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Items: 1 to 100 of 2186

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:10795576-17867596
GRCh38:
Chr17:10892259-17964282
LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SHISA6, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928350, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390836, LOC129390837, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh38:
Chr17:11915997-17892664
ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
not specifiedPathogenic
(Sep 28, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr17:14970116-17375771
GRCh38:
Chr17:15066799-17472457
ADORA2B, CCDC144A, CDRT3, CDRT4, CDRT8, CENPV, COPS3, FAM106C, FBXW10B, FLCN, LINC02087, LINC02090, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC125177427, LOC125177428, LOC125177429, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC132090457, LOC132090458, LOC284191, LRRC75A, MIR1288, MIR4731, MPRIP, NCOR1, NT5M, PIGL, PLD6, PMP22, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr17:15113717-18184130
GRCh38:
Chr17:15210400-18280816
ADORA2B, ALKBH5, ATPAF2, CCDC144A, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, FAM106C, FBXW10B, FLCN, FLII, GID4, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR4731, MIR6777, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr17:15138002-20524013
GRCh38:
Chr17:15234685-20620700
LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR4731, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr17:15162481-20828612
GRCh38:
Chr17:15259164-20925299
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CCDC144NL-AS1, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC106020712, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC130060482, LOC130060483, LOC130060484, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr17:15455676-18917513
GRCh38:
Chr17:15552362-19014200
ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC132090457, LOC132090458, LOC132090459, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, SHMT1, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRIM16L, TRPV2, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Nov 5, 2013)
no assertion criteria provided
8.
GRCh37:
Chr17:15633207-20413564
GRCh38:
Chr17:15729893-20510251
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
9.
GRCh37:
Chr17:15680229-18675066
GRCh38:
Chr17:15776915-18771753
ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FBXW10, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02087, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr17:15754173-20552548
GRCh38:
Chr17:15850859-20649235
LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7, ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408
See casesPathogenic
(Oct 22, 2013)
no assertion criteria provided
11.
GRCh37:
Chr17:15786351-20561331
GRCh38:
Chr17:15883037-20658018
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
12.
GRCh37:
Chr17:15786351-20524013
GRCh38:
Chr17:15883037-20620700
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Jun 20, 2011)
no assertion criteria provided
13.
GRCh37:
Chr17:15801346-20524013
GRCh38:
Chr17:15898032-20620700
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr17:15855385-18266133
GRCh38:
Chr17:15952071-18362819
ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TNFRSF13B, TOM1L2, TOP3A, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr17:16021199-18266133
GRCh38:
Chr17:16117885-18362819
ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587578, LOC121587579, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC129390842, LOC129390843, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TNFRSF13B, TOM1L2, TOP3A, TRPV2, UBB, ZNF287, ZNF624
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr17:16329947-20901901
GRCh38:
Chr17:16426633-20998588
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CCDC144NL-AS1, CDRT15L2, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC106020712, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC125177440, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390842, LOC129390843, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC130060482, LOC130060483, LOC130060484, LOC130060485, LOC130060486, LOC130060487, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC339260, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TVP23B, ULK2, ZNF287, ZNF624
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
17.
GRCh37:
Chr17:16559476-20294010
GRCh38:
Chr17:16656162-20390697
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC129390842, LOC129390843, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
18.
GRCh37:
Chr17:16559482-20294038
GRCh38:
Chr17:16656168-20390725
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC129390842, LOC129390843, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr17:16595776-20294038
GRCh38:
Chr17:16692462-20390725
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC129390842, LOC129390843, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr17:16600022-20396173
GRCh38:
Chr17:16696708-20492860
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC129390842, LOC129390843, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
21.
GRCh37:
Chr17:16603008-20433959
GRCh38:
Chr17:16699694-20530646
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862515, LOC126862516, LOC126862517, LOC129390842, LOC129390843, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1,