| - GRCh37:
- Chr5:89670423-127412115
- GRCh38:
- Chr5:90374606-128076423
| ADGRV1, ALDH7A1, AP3S1, APC, ARB2A, ARL14EPL, ARRDC3, ARRDC3-AS1, ARSK, ATG12, C5orf63, CAMK4, CAST, CCDC112, CCDC192, CDO1, CEP120, CETN3, CHD1, CHD1-DT, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DMXL1-DT, DTWD2, EFNA5, ELL2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, ERAP1, ERAP2, FAM170A, FAM174A, FAM174A-DT, FAM81B, FBXL17, FEM1C, FER, FTMT, GIN1, GLRX, GPR150, GRAMD2B, HSD17B4, KCNN2, KIAA0825, LINC00491, LINC00492, LINC00992, LINC01023, LINC01170, LINC01340, LINC01554, LINC01846, LINC01848, LINC01950, LINC01957, LINC02039, LINC02113, LINC02115, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02234, LINC02240, LINCADL, LIX1, LIX1-AS1, LMNB1, LMNB1-DT, LNPEP, LOC100289230, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929710, LOC102467216, LOC102467217, LOC102467226, LOC102724720, LOC105379082, LOC105379109, LOC105379157, LOC110120605, LOC110120640, LOC110120641, LOC110120699, LOC110120744, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121082, LOC110121084, LOC110121147, LOC110121173, LOC110121176, LOC110121194, LOC110121303, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC113002596, LOC114004395, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389321, LOC129389322, LOC129389323, LOC129389324, LOC129389325, LOC129389326, LOC129389327, LOC129389328, LOC129994235, LOC129994236, LOC129994237, LOC129994238, LOC129994239, LOC129994240, LOC129994241, LOC129994242, LOC129994243, LOC129994244, LOC129994245, LOC129994246, LOC129994247, LOC129994248, LOC129994249, LOC129994250, LOC129994251, LOC129994252, LOC129994253, LOC129994254, LOC129994255, LOC129994256, LOC129994257, LOC129994258, LOC129994259, LOC129994260, LOC129994261, LOC129994262, LOC129994263, LOC129994264, LOC129994265, LOC129994266, LOC129994267, LOC129994268, LOC129994269, LOC129994270, LOC129994271, LOC129994272, LOC129994273, LOC129994274, LOC129994275, LOC129994276, LOC129994277, LOC129994278, LOC129994279, LOC129994280, LOC129994281, LOC129994282, LOC129994283, LOC129994284, LOC129994285, LOC129994286, LOC129994287, LOC129994288, LOC129994289, LOC129994290, LOC129994291, LOC129994292, LOC129994293, LOC129994294, LOC129994295, LOC129994296, LOC129994297, LOC129994298, LOC129994299, LOC129994300, LOC129994301, LOC129994302, LOC129994303, LOC129994304, LOC129994305, LOC129994306, LOC129994307, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC132089159, LOC132089160, LOC132089162, LOC132090732, LOC285638, LOC731157, LOX, LUCAT1, LVRN, LYSMD3, MACIR, MAN2A1, MAN2A1-DT, MARCHF3, MBLAC2, MCC, MCTP1, MEGF10, MGC32805, MIR12130, MIR1244-2, MIR2277, MIR548F3, MIR548P, MIR5706, MIR583, NR2F1, NR2F1-AS1, NREP, NREP-AS1, NUDT12, PAM, PCSK1, PGGT1B, PHAX, PJA2, POLR3G, POU5F2, PPIC, PPIP5K2, PRDM6, PRDM6-AS1, PRR16, PRRC1, REEP5, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SKIC3, SLC12A2-DT, SLC25A46, SLCO4C1, SLCO6A1, SLF1, SNCAIP, SNORA13, SNX2, SNX24, SPATA9, SPMIP10, SRFBP1, SRP19, ST8SIA4, STARD4, STARD4-AS1, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF475, ZNF608, LOC129389329, LOC129389330, LOC129389331, LOC129389332, LOC129389333, LOC129389334, LOC129389335, LOC129389336, LOC129389337, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129389344, LOC129389345, LOC129389346, LOC129389347, LOC129389348, LOC129389349, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129389360, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC129994217, LOC129994218, LOC129994219, LOC129994220, LOC129994221, LOC129994222, LOC129994223, LOC129994224, LOC129994225, LOC129994226, LOC129994227, LOC129994228, LOC129994229, LOC129994230, LOC129994231, LOC129994232, LOC129994233, LOC129994234 | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:90707525-130655256
- GRCh38:
- Chr5:91411708-131319563
| ADAMTS19, ADAMTS19-AS1, ALDH7A1, AP3S1, APC, ARB2A, ARL14EPL, ARRDC3-AS1, ARSK, ATG12, C5orf63, CAMK4, CAST, CCDC112, CCDC192, CDC42SE2, CDO1, CEP120, CHD1, CHD1-DT, CHSY3, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DMXL1-DT, DTWD2, EFNA5, ELL2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, ERAP1, ERAP2, FAM170A, FAM174A, FAM174A-DT, FAM81B, FBN2, FBXL17, FEM1C, FER, FTMT, GIN1, GLRX, GPR150, GRAMD2B, HINT1, HSD17B4, ISOC1, KCNN2, KIAA0825, LINC00491, LINC00492, LINC00992, LINC01023, LINC01170, LINC01340, LINC01554, LINC01846, LINC01848, LINC01950, LINC01957, LINC02039, LINC02113, LINC02115, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02234, LINC02240, LINCADL, LIX1, LIX1-AS1, LMNB1, LMNB1-DT, LNPEP, LOC100289230, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929710, LOC102467216, LOC102467217, LOC102467226, LOC102724720, LOC105379082, LOC105379109, LOC105379157, LOC110120605, LOC110120640, LOC110120641, LOC110120699, LOC110120744, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121082, LOC110121084, LOC110121147, LOC110121173, LOC110121176, LOC110121194, LOC110121303, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC113002596, LOC114004395, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC129389322, LOC129389323, LOC129389324, LOC129389325, LOC129389326, LOC129389327, LOC129389328, LOC129389329, LOC129389330, LOC129389331, LOC129389332, LOC129389333, LOC129389334, LOC129389335, LOC129389336, LOC129389337, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129389344, LOC129389345, LOC129389346, LOC129389347, LOC129389348, LOC129389349, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129389360, LOC129389361, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC129994217, LOC129994218, LOC129994219, LOC129994220, LOC129994221, LOC129994222, LOC129994223, LOC129994224, LOC129994225, LOC129994226, LOC129994227, LOC129994228, LOC129994229, LOC129994230, LOC129994231, LOC129994232, LOC129994233, LOC129994234, LOC129994235, LOC129994236, LOC129994237, LOC129994238, LOC129994239, LOC129994240, LOC129994241, LOC129994242, LOC129994243, LOC129994244, LOC129994245, LOC129994246, LOC129994247, LOC129994248, LOC129994249, LOC129994250, LOC129994251, LOC129994252, LOC129994253, LOC129994254, LOC129994255, LOC129994256, LOC129994257, LOC129994258, LOC129994259, LOC129994260, LOC129994261, LOC129994262, LOC129994263, LOC129994264, LOC129994265, LOC129994266, LOC129994267, LOC129994268, LOC129994269, LOC129994270, LOC129994271, LOC129994272, LOC129994273, LOC129994274, LOC129994275, LOC129994276, LOC129994277, LOC129994278, LOC129994279, LOC129994280, LOC129994281, LOC129994282, LOC129994283, LOC129994284, LOC129994285, LOC129994286, LOC129994287, LOC129994288, LOC129994289, LOC129994290, LOC129994291, LOC129994292, LOC129994293, LOC129994294, LOC129994295, LOC129994296, LOC129994297, LOC129994298, LOC129994299, LOC129994300, LOC129994301, LOC129994302, LOC129994303, LOC129994304, LOC129994305, LOC129994306, LOC129994307, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC132089159, LOC132089160, LOC132089162, LOC132089163, LOC132090732, LOC285638, LOX, LVRN, LYRM7, MACIR, MAN2A1, MAN2A1-DT, MARCHF3, MCC, MCTP1, MEGF10, MGC32805, MINAR2, MIR12130, MIR1244-2, MIR2277, MIR4460, MIR4633, MIR548F3, MIR548P, MIR5706, MIR583, NR2F1, NR2F1-AS1, NREP, NREP-AS1, NUDT12, PAM, PCSK1, PGGT1B, PHAX, PJA2, POU5F2, PPIC, PPIP5K2, PRDM6, PRDM6-AS1, PRR16, PRRC1, REEP5, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SKIC3, SLC12A2, SLC12A2-DT, SLC25A46, SLC27A6, SLCO4C1, SLCO6A1, SLF1, SNCAIP, SNORA13, SNX2, SNX24, SPATA9, SPMIP10, SRFBP1, SRP19, ST8SIA4, STARD4, STARD4-AS1, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF475, ZNF608 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:105955289-155551397
- GRCh38:
- Chr5:106619588-156124387
| ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ALDH7A1, ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARL14EPL, ARSI, ATG12, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CARMN, CATSPER3, CCDC112, CCDC192, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CHSY3, CLMAT3, CNOT8, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CTXN3, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DMXL1, DMXL1-DT, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM170A, FAM53C, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXO38-DT, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, ISOC1, JADE2, JAKMIP2, JAKMIP2-AS1, KCNN2, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC00992, LINC01023, LINC01170, LINC01470, LINC01843, LINC01844, LINC01848, LINC01861, LINC01933, LINC01950, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LINC02900, LINC02999, LINCADL, LMNB1, LMNB1-DT, LOC100128966, LOC100652758, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929719, LOC102467216, LOC102467217, LOC102467226, LOC105378230, LOC105379157, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121070, LOC110121082, LOC110121084, LOC110121107, LOC110121118, LOC110121171, LOC110121173, LOC110121194, LOC110121202, LOC110121271, LOC110121303, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC121725217, LOC121740630, LOC121740631, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5197, MIR548F3, MIR5692C1, MIR5706, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NREP, NREP-AS1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PITX1-AS1, PJA2, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPIC, PPP2CA, PPP2CA-DT, PPP2R2B, PPP2R2B-IT1, PRDM6, PRDM6-AS1, PRELID2, PROB1, PRR16, PRRC1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, REEP5, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SEPTIN8, SGCD, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC25A48-AS1, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNCAIP, SNHG4, SNORA13, SNORA74A, SNORA74D, SNORD63, SNORD63B, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, SRFBP1, SRP19, STARD4, STARD4-AS1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TICAM2, TICAM2-AS1, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TRPC7-AS1, TRPC7-AS2, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, WSPAR, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF474-AS1, ZNF475, ZNF608, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, 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LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129389379, LOC129389380, LOC129389381, LOC129389382, LOC129389383, LOC129389384, LOC129389385, LOC129389386, LOC129389387, LOC129389388, LOC129389389, LOC129389390, LOC129389391, LOC129389392, LOC129389393, LOC129389394, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC129994598, LOC129994599, LOC129994600, LOC129994601, LOC129994602, LOC129994603, LOC129994604, LOC129994605, LOC129994606, LOC129994607, LOC129994608, LOC129994609, LOC129994610, LOC129994611, LOC129994612, LOC129994613, LOC129994614, LOC129994615, LOC129994616, LOC129994617, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:110023143-129439531
- GRCh38:
- Chr5:110687442-130103838
| ADAMTS19, ADAMTS19-AS1, ALDH7A1, AP3S1, APC, ARL14EPL, ATG12, C5orf63, CAMK4, CCDC112, CCDC192, CDO1, CEP120, CHSY3, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DMXL1-DT, DTWD2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, FAM170A, FBN2, FEM1C, FTMT, GRAMD2B, HSD17B4, ISOC1, KCNN2, LINC00992, LINC01170, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINCADL, LMNB1, LMNB1-DT, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC102467216, LOC102467217, LOC102467226, LOC105379157, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725214, LOC121725215, LOC121725216, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC129389344, LOC129389345, LOC129389346, LOC129389347, LOC129389348, LOC129389349, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129389360, LOC129389361, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC132089162, LOC132089163, LOC132090732, LOX, LVRN, MARCHF3, MCC, MEGF10, MGC32805, MINAR2, MIR12130, MIR1244-2, MIR4460, MIR4633, MIR5706, NREP, NREP-AS1, PGGT1B, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, PRRC1, REEP5, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SLC12A2, SLC12A2-DT, SLC25A46, SLC27A6, SNCAIP, SNORA13, SNX2, SNX24, SPMIP10, SRFBP1, SRP19, STARD4, STARD4-AS1, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF475, ZNF608 | | See cases | Pathogenic (Aug 20, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:110798714-126528730
- GRCh38:
- Chr5:111463016-127193038
| ALDH7A1, AP3S1, APC, ARL14EPL, ATG12, C5orf63, CAMK4, CCDC112, CDO1, CEP120, COMMD10, CSNK1G3, DCP2, DMXL1, DMXL1-DT, DTWD2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, FAM170A, FEM1C, FTMT, GRAMD2B, HSD17B4, KCNN2, LINC00992, LINC01170, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINCADL, LMNB1, LMNB1-DT, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC102467216, LOC102467217, LOC102467226, LOC105379157, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725214, LOC121725215, LOC121725216, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC129389344, LOC129389345, LOC129389346, LOC129389347, LOC129389348, LOC129389349, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC132089162, LOC132090732, LOX, LVRN, MARCHF3, MCC, MGC32805, MIR12130, MIR1244-2, MIR5706, NREP, NREP-AS1, PGGT1B, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, REEP5, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SNCAIP, SNORA13, SNX2, SNX24, SPMIP10, SRFBP1, SRP19, STARD4, STARD4-AS1, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TNFAIP8, TRIM36, TSSK1B, YTHDC2, ZNF474, ZNF474-AS1, ZNF475, ZNF608 | | See cases | Pathogenic (Jan 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr5:116012818-132021855
- GRCh38:
- Chr5:116677122-132686163
| LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC132089162, LOC132089163, LOC132090732, LOX, LYRM7, MARCHF3, MEGF10, MEIKIN, MGC32805, MINAR2, MIR1244-2, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5706, MIR6830, P4HA2, P4HA2-AS1, PDLIM4, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, PRRC1, RAD50, RAPGEF6, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC27A6, SNCAIP, SNX2, SNX24, SPMIP10, SRFBP1, TH2-LCR, TH2LCRR, TNFAIP8, ZNF474, ZNF474-AS1, ZNF475, ZNF608, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ALDH7A1, C5orf63, CCDC192, CDC42SE2, CEP120, CHSY3, CSF2, CSNK1G3, CTXN3, DMXL1, DMXL1-DT, DTWD2, FAM170A, FBN2, FNIP1, FTMT, GRAMD2B, HINT1, HSD17B4, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, ISOC1, LINC00992, LINC01170, LINC02039, LINC02147, LINC02148, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LMNB1, LMNB1-DT, LOC101927357, LOC101927421, LOC101927488, LOC102467226, LOC105379157, LOC105379176, LOC107198087, LOC108281143, LOC108449898, LOC110121082, LOC110121084, LOC110121107, LOC110121173, LOC110121303, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC121079959, LOC121079960, LOC121079961, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129389360, LOC129389361, LOC129389362, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:120075325-126159676
- GRCh38:
- Chr5:120739630-126823984
| ALDH7A1, CEP120, CSNK1G3, FTMT, GRAMD2B, LINC01170, LINC02039, LINC02201, LINC02240, LMNB1, LMNB1-DT, LOC101927357, LOC101927421, LOC101927488, LOC102467226, LOC105379157, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997555, LOC121079959, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC132090732, LOX, MGC32805, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, SNCAIP, SNX2, SNX24, SPMIP10, SRFBP1, ZNF474, ZNF474-AS1, ZNF475, ZNF608 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:121814963-126168860
- GRCh38:
- Chr5:122479268-126833168
| ALDH7A1, CEP120, CSNK1G3, GRAMD2B, LINC01170, LINC02039, LINC02201, LINC02240, LMNB1, LMNB1-DT, LOC101927357, LOC101927421, LOC101927488, LOC105379157, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997555, LOC123497962, LOC123497963, LOC123497964, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC132090732, PHAX, PPIC, PRDM6, PRDM6-AS1, SNX2, SNX24, SPMIP10, ZNF608 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:124708550-126174706
- GRCh38:
- Chr5:125372857-126839014
| ALDH7A1, GRAMD2B, LINC02039, LINC02240, LMNB1, LMNB1-DT, LOC101927488, LOC110121082, LOC110121303, LOC112997555, LOC123497964, LOC126807496, LOC126807497, LOC126807498, LOC129389357, LOC129389358, LOC129389359, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, PHAX, SPMIP10 | | See cases | Uncertain significance (Dec 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr5:125774098-132209659
- GRCh38:
- Chr5:126438406-132873967
| ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ALDH7A1, C5orf63, CCDC192, CCNI2, CDC42SE2, CHSY3, CSF2, CTXN3, FBN2, FNIP1, GDF9, GRAMD2B, HINT1, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, ISOC1, KIF3A, LEAP2, LINC02863, LMNB1, LMNB1-DT, LOC105379176, LOC107198087, LOC108281143, LOC108449898, LOC110121107, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC121079960, LOC121079961, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC129389358, LOC129389359, LOC129389360, LOC129389361, LOC129389362, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC129994598, LOC129994599, LOC129994600, LOC129994601, LOC129994602, LOC129994603, LOC129994604, LOC129994605, LOC129994606, LOC129994607, LOC129994608, LOC129994609, LOC129994610, LOC129994611, LOC129994612, LOC132089163, LYRM7, MARCHF3, MEGF10, MEIKIN, MINAR2, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR6830, P4HA2, P4HA2-AS1, PDLIM4, PHAX, PRRC1, RAD50, RAPGEF6, SEPTIN8, SHROOM1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC27A6, SOWAHA, SPMIP10, TH2-LCR, TH2LCRR, UQCRQ | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125794639-127873679
- GRCh38:
- Chr5:126458947-128537986
| ALDH7A1, C5orf63, CCDC192, CTXN3, FBN2, GRAMD2B, LMNB1, LMNB1-DT, LOC112997555, LOC112997556, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC129389358, LOC129389359, LOC129389360, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, MARCHF3, MEGF10, PHAX, PRRC1, SLC12A2, SLC12A2-DT, SPMIP10 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr5:126508361-126769360
| ALDH7A1, LMNB1, LMNB1-DT, LOC112997555, LOC129389358, LOC129389359, LOC129994503, LOC129994504, LOC129994505, PHAX, SPMIP10 | | Adult-onset autosomal dominant demyelinating leukodystrophy | Pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877533
- GRCh38:
- Chr5:126541841
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877576
- GRCh38:
- Chr5:126541884
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877635
- GRCh38:
- Chr5:126541943
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877659-125877660
- GRCh38:
- Chr5:126541967-126541968
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877659-125877660
- GRCh38:
- Chr5:126541967-126541968
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877690
- GRCh38:
- Chr5:126541998
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877743
- GRCh38:
- Chr5:126542051
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877836-125877837
- GRCh38:
- Chr5:126542144-126542145
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877839
- GRCh38:
- Chr5:126542147
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877876
- GRCh38:
- Chr5:126542184
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125877957
- GRCh38:
- Chr5:126542265
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878054
- GRCh38:
- Chr5:126542362
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878073
- GRCh38:
- Chr5:126542381
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878082
- GRCh38:
- Chr5:126542390
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878087-125878088
- GRCh38:
- Chr5:126542395-126542396
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878093
- GRCh38:
- Chr5:126542401
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878108
- GRCh38:
- Chr5:126542416
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878145
- GRCh38:
- Chr5:126542453
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878158
- GRCh38:
- Chr5:126542466
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878159
- GRCh38:
- Chr5:126542467
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878163
- GRCh38:
- Chr5:126542471
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878165
- GRCh38:
- Chr5:126542473
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878192-125878193
- GRCh38:
- Chr5:126542500-126542501
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878234
- GRCh38:
- Chr5:126542542
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878248
- GRCh38:
- Chr5:126542556
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878270
- GRCh38:
- Chr5:126542578
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878287
- GRCh38:
- Chr5:126542595
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878292
- GRCh38:
- Chr5:126542600
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878343
- GRCh38:
- Chr5:126542651
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878403
- GRCh38:
- Chr5:126542711
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878467
- GRCh38:
- Chr5:126542775
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878531
- GRCh38:
- Chr5:126542839
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878813
- GRCh38:
- Chr5:126543121
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878818
- GRCh38:
- Chr5:126543126
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878821
- GRCh38:
- Chr5:126543129
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878853
- GRCh38:
- Chr5:126543161
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878908-125878909
- GRCh38:
- Chr5:126543216-126543217
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878908
- GRCh38:
- Chr5:126543216
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878909
- GRCh38:
- Chr5:126543217
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878916
- GRCh38:
- Chr5:126543224
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878927
- GRCh38:
- Chr5:126543235
| ALDH7A1 | | Pyridoxine-dependent epilepsy, not provided | Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:125878955
- GRCh38:
- Chr5:126543263
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878964
- GRCh38:
- Chr5:126543272
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125878985
- GRCh38:
- Chr5:126543293
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879128
- GRCh38:
- Chr5:126543436
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879161
- GRCh38:
- Chr5:126543469
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879165
- GRCh38:
- Chr5:126543473
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879173
- GRCh38:
- Chr5:126543481
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879182
- GRCh38:
- Chr5:126543490
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879211
- GRCh38:
- Chr5:126543519
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879216
- GRCh38:
- Chr5:126543524
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879241
- GRCh38:
- Chr5:126543549
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879289
- GRCh38:
- Chr5:126543597
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879367
- GRCh38:
- Chr5:126543675
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879369
- GRCh38:
- Chr5:126543677
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879370
- GRCh38:
- Chr5:126543678
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879448
- GRCh38:
- Chr5:126543756
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879481
- GRCh38:
- Chr5:126543789
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879501
- GRCh38:
- Chr5:126543809
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879545
- GRCh38:
- Chr5:126543853
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879549
- GRCh38:
- Chr5:126543857
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879598
- GRCh38:
- Chr5:126543906
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879599
- GRCh38:
- Chr5:126543907
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879604
- GRCh38:
- Chr5:126543912
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879652-125879653
- GRCh38:
- Chr5:126543960-126543961
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879654-125879655
- GRCh38:
- Chr5:126543962-126543963
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879655
- GRCh38:
- Chr5:126543963
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879656-125879657
- GRCh38:
- Chr5:126543964-126543965
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879656-125879657
- GRCh38:
- Chr5:126543964-126543965
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879656-125879657
- GRCh38:
- Chr5:126543964-126543965
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879677
- GRCh38:
- Chr5:126543985
| ALDH7A1, LOC112997555 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879726
- GRCh38:
- Chr5:126544034
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879757-125879759
- GRCh38:
- Chr5:126544065-126544067
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879839
- GRCh38:
- Chr5:126544147
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879850
- GRCh38:
- Chr5:126544158
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879931
- GRCh38:
- Chr5:126544239
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879940
- GRCh38:
- Chr5:126544248
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879953
- GRCh38:
- Chr5:126544261
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125879967
- GRCh38:
- Chr5:126544275
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880016
- GRCh38:
- Chr5:126544324
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880109
- GRCh38:
- Chr5:126544417
| ALDH7A1, LOC129994503 | | Pyridoxine-dependent epilepsy | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880248
- GRCh38:
- Chr5:126544556
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880253
- GRCh38:
- Chr5:126544561
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880254
- GRCh38:
- Chr5:126544562
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880305
- GRCh38:
- Chr5:126544613
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880332
- GRCh38:
- Chr5:126544640
| ALDH7A1 | | not provided, Pyridoxine-dependent epilepsy | Likely benign (May 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:125880338
- GRCh38:
- Chr5:126544646
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:125880501
- GRCh38:
- Chr5:126544809
| ALDH7A1 | | Pyridoxine-dependent epilepsy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |