8546[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580961.	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 GRCh37: Chr5:73459011-110145153 GRCh38: Chr5:74163186-110809453	ENC1, ERAP1, ERAP2, F2R, F2RL1, F2RL2, FAM151B, FAM151B-DT, FAM169A, FAM169A-AS1, FAM174A, FAM174A-DT, FAM81B, FBXL17, FER, GCNT4, GFM2, GIN1, GLRX, GPR150, HAPLN1, HEXB, HMGCR, HOMER1, IQGAP2, JMY, KIAA0825, LHFPL2, LINC00491, LINC00492, LINC01023, LINC01157, LINC01331, LINC01333, LINC01335, LINC01337, LINC01338, LINC01339, LINC01340, LINC01455, LINC01554, LINC01846, LINC01848, LINC01949, LINC01950, LINC02059, LINC02060, LINC02113, LINC02115, LINC02144, LINC02234, LINC02488, LIX1, LIX1-AS1, LNPEP, LOC100289230, LOC101929109, LOC101929154, LOC101929380, LOC101929710, LOC102724637, LOC102724720, LOC105379051, LOC105379082, LOC105379109, LOC108175351, LOC110120605, LOC110120636, LOC110120637, LOC110120638, LOC110120640, LOC110120641, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120789, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121101, LOC110121147, LOC110121176, LOC110121194, LOC111556141, LOC111562375, LOC111591505, LOC112997552, LOC113002592, LOC113002593, LOC113002594, LOC113002595, LOC113002596, LOC114004395, LOC116158519, LOC116158520, LOC116158521, LOC121079946, LOC121079947, LOC121079948, LOC121079949, LOC121079950, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121725208, LOC121725209, LOC121725210, LOC121725211, LOC121725212, LOC121725213, LOC123497910, LOC123497911, LOC123497912, LOC123497913, LOC123497914, LOC123497915, LOC123497916, LOC123497917, LOC123497918, LOC123497919, LOC123497920, LOC123497921, LOC123497922, LOC123497923, LOC123497924, LOC123497925, LOC123497926, LOC123497928, LOC123497929, LOC123497930, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC126807422, LOC126807423, LOC126807424, LOC126807425, LOC126807426, LOC126807427, LOC126807428, LOC126807429, LOC126807430, LOC126807431, LOC126807432, LOC126807433, LOC126807434, LOC126807435, LOC126807436, LOC126807437, LOC126807438, LOC126807439, LOC126807440, LOC126807441, LOC126807442, LOC126807443, LOC126807444, LOC126807445, LOC126807446, LOC126807447, LOC126807448, 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, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389299, LOC129389300, LOC129389301, LOC129389302, LOC129389303, LOC129389304, LOC129389305, LOC129389306, LOC129389307, LOC129389308, LOC129389309, LOC129389310, LOC129389311, LOC129389312, LOC129389313, LOC129389314, LOC129389315, LOC129389316, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129389322, LOC129389323, LOC129389324, LOC129389325, LOC129389326, LOC129389327, LOC129389328, LOC129389329, LOC129389330, LOC129389331, LOC129389332, LOC129389333, LOC129389334, LOC129389335, LOC129389336, LOC129389337, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129994047, LOC129994048, LOC129994049, LOC129994050, LOC129994051, LOC129994052, LOC129994053, LOC129994054, LOC129994055, LOC129994056, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062, LOC129994063, LOC129994064, LOC129994065, LOC129994066, LOC129994067, LOC129994068, LOC129994069, LOC129994070, LOC129994071, LOC129994072, LOC129994073, LOC129994074, LOC129994075, LOC129994076, LOC129994077, LOC129994078, LOC129994079, LOC129994080, LOC129994081, LOC129994082, LOC129994083, LOC129994084, LOC129994085, LOC129994086, LOC129994087, LOC129994088, LOC129994089, LOC129994090, LOC129994091, LOC129994092, LOC129994093, LOC129994094, LOC129994095, LOC129994096, LOC129994097, LOC129994098, LOC129994099, LOC129994100, LOC129994101, LOC129994102, LOC129994103, LOC129994104, LOC129994105, LOC129994106, LOC129994107, LOC129994108, LOC129994109, LOC129994110, LOC129994111, LOC129994112, LOC129994113, LOC129994114, LOC129994115, LOC129994116, LOC129994117, LOC129994118, LOC129994119, LOC129994120, LOC129994121, LOC129994122, LOC129994123, LOC129994124, LOC129994125, LOC129994126, LOC129994127, LOC129994128, LOC129994129, LOC129994130, LOC129994131, LOC129994132, LOC129994133, LOC129994134, LOC129994135, LOC129994136, LOC129994137, LOC129994138, LOC129994139, LOC129994140, LOC129994141, LOC129994142, LOC129994143, LOC129994144, LOC129994145, LOC129994146, LOC129994147, LOC129994148, LOC129994149, LOC129994150, LOC129994151, LOC129994152, LOC129994153, LOC129994154, LOC129994155, LOC129994156, LOC129994157, LOC129994158, LOC129994159, LOC129994160, LOC129994161, LOC129994162, LOC129994163, LOC129994164, LOC129994165, LOC129994166, LOC129994167, LOC129994168, LOC129994169, LOC129994170, LOC129994171, LOC129994172, LOC129994173, LOC129994174, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, 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, 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, ACOT12, ADGRV1, AGGF1, ANKDD1B, ANKRD31, ANKRD34B, AP3B1, ARB2A, ARRDC3, ARRDC3-AS1, ARSB, ARSK, ATG10, ATP6AP1L, BHMT, BHMT2, CAST, CCNH, CERT1, CETN3, CHD1, CHD1-DT, CKMT2, CKMT2-AS1, CMYA5, COX7C, CRE1, CRHBP, DHFR, DMGDH, EDIL3, EDIL3-DT, EFNA5, ELL2, 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, LOC132089159, LOC132089160, LOC132089304, LOC285638, LOC441087, LOC644285, LOC645261, LOC731157, LUCAT1, LYSMD3, MACIR, MAN2A1, MAN2A1-DT, MBLAC2, MCTP1, MEF2C, MEF2C-AS1, MEF2C-AS2, MIR2277, MIR3660, MIR3977, MIR4280, MIR4280HG, MIR548F3, MIR548P, MIR583, MIR9-2, MIR9-2HG, MSH3, MTRNR2L2, MTX3, NCRUPAR, NR2F1, NR2F1-AS1, NSA2, NUDT12, OTP, PAM, PCSK1, PDE8B, PJA2, POC5, POLK, POLR3G, POU5F2, PPIP5K2, RASA1, RASGRF2, RASGRF2-AS1, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, RPS23, S100Z, SCAMP1, SCAMP1-AS1, SCARNA18, SERINC5, SKIC3, SLC25A46, SLCO4C1, SLCO6A1, SLF1, SNORA47, SNORD138, SPATA9, SPZ1, SSBP2, ST8SIA4, SV2C, SV2C-AS1, TBCA, TENT2, THBS4, THBS4-AS1, TMEM161B, TMEM161B-DT, TMEM167A, TMEM232, VCAN, VCAN-AS1, WDR41, XRCC4, ZBED3, ZBED3-AS1, ZCCHC9, ZFYVE16		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 596272.	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1 GRCh37: Chr5:76313934-77485892 GRCh38: Chr5:77018109-78190068	AGGF1, AP3B1, LOC101929154, LOC108175351, LOC110120636, LOC121079946, LOC126807429, LOC129994095, LOC129994096, LOC129994097, LOC129994098, LOC129994099, LOC129994100, LOC129994101, LOC129994102, LOC129994103, LOC129994104, LOC129994105, OTP, PDE8B, SNORA47, TBCA, WDR41, ZBED3, ZBED3-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3695083.	NM_001271769.2(AP3B1):c.*588A>G GRCh37: Chr5:77298138 GRCh38: Chr5:78002314	AP3B1		Hermansky-Pudlak syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3542124.	NM_003664.5(AP3B1):c.*552TAAA[1] GRCh37: Chr5:77298167-77298170 GRCh38: Chr5:78002343-78002346	AP3B1		Hermansky-Pudlak syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3542135.	NM_003664.5(AP3B1):c.*507G>A GRCh37: Chr5:77298219 GRCh38: Chr5:78002395	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9048426.	NM_003664.5(AP3B1):c.*482C>T GRCh37: Chr5:77298244 GRCh38: Chr5:78002420	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3542147.	NM_003664.5(AP3B1):c.*447C>T GRCh37: Chr5:77298279 GRCh38: Chr5:78002455	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9048448.	NM_003664.5(AP3B1):c.*380G>A GRCh37: Chr5:77298346 GRCh38: Chr5:78002522	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9048439.	NM_003664.5(AP3B1):c.*380G>C GRCh37: Chr5:77298346 GRCh38: Chr5:78002522	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35421510.	NM_003664.5(AP3B1):c.*379A>G GRCh37: Chr5:77298347 GRCh38: Chr5:78002523	AP3B1		Hermansky-Pudlak syndrome 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90645811.	NM_003664.5(AP3B1):c.*191C>G GRCh37: Chr5:77298535 GRCh38: Chr5:78002711	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35421612.	NM_003664.5(AP3B1):c.*141T>C GRCh37: Chr5:77298585 GRCh38: Chr5:78002761	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35421713.	NM_003664.5(AP3B1):c.*107T>A GRCh37: Chr5:77298619 GRCh38: Chr5:78002795	AP3B1		not specified, not provided, Hermansky-Pudlak syndrome	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35421814.	NM_003664.5(AP3B1):c.*101T>C GRCh37: Chr5:77298625 GRCh38: Chr5:78002801	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35421915.	NM_003664.5(AP3B1):c.*69dup GRCh37: Chr5:77298656-77298657 GRCh38: Chr5:78002832-78002833	AP3B1		Hermansky-Pudlak syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90645916.	NM_003664.5(AP3B1):c.*44G>A GRCh37: Chr5:77298682 GRCh38: Chr5:78002858	AP3B1		Hermansky-Pudlak syndrome 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 120798417.	NM_003664.5(AP3B1):c.*41A>G GRCh37: Chr5:77298685 GRCh38: Chr5:78002861	AP3B1		not provided	Likely benign (Nov 10, 2018)	criteria provided, single submitter
Select item 106245018.	NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala) GRCh37: Chr5:77298746 GRCh38: Chr5:78002922	AP3B1	P1040A, P1089A	Hermansky-Pudlak syndrome 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95096719.	NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) GRCh37: Chr5:77298757 GRCh38: Chr5:78002933	AP3B1	R1085Q, R1036Q	Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108695420.	NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=) GRCh37: Chr5:77298774 GRCh38: Chr5:78002950	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Feb 6, 2020)	criteria provided, single submitter
Select item 94793421.	NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) GRCh37: Chr5:77298781 GRCh38: Chr5:78002957	AP3B1	T1028I, T1077I	Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2	Uncertain significance (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141597122.	NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu) GRCh37: Chr5:77298785 GRCh38: Chr5:78002961	AP3B1	K1027E, K1076E	Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 105715923.	NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val) GRCh37: Chr5:77298797 GRCh38: Chr5:78002973	AP3B1	I1023V, I1072V	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 35422024.	NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) GRCh37: Chr5:77298804 GRCh38: Chr5:78002980	AP3B1		Hermansky-Pudlak syndrome 2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 119141325.	NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) GRCh37: Chr5:77298814 GRCh38: Chr5:78002990	AP3B1	S1017F, S1066F	not provided, Hermansky-Pudlak syndrome 2, not specified	Conflicting interpretations of pathogenicity (May 11, 2023)	criteria provided, conflicting interpretations
Select item 159827826.	NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=) GRCh37: Chr5:77298816 GRCh38: Chr5:78002992	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 100208727.	NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp) GRCh37: Chr5:77298817 GRCh38: Chr5:78002993	AP3B1	G1016D, G1065D	Hermansky-Pudlak syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 139323528.	NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys) GRCh37: Chr5:77298821 GRCh38: Chr5:78002997	AP3B1	E1015K, E1064K	Hermansky-Pudlak syndrome 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 212132629.	NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg) GRCh37: Chr5:77298823 GRCh38: Chr5:78002999	AP3B1	K1063R, K1014R	Hermansky-Pudlak syndrome 2	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 83627630.	NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) GRCh37: Chr5:77298843 GRCh38: Chr5:78003019	AP3B1	M1056I, M1007I	Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110277031.	NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=) GRCh37: Chr5:77298848 GRCh38: Chr5:78003024	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Mar 26, 2019)	criteria provided, single submitter
Select item 263356732.	NM_003664.5(AP3B1):c.3154del (p.Ser1052fs) GRCh37: Chr5:77298857 GRCh38: Chr5:78003033	AP3B1	S1003fs, S1052fs	AP3B1-related condition	Likely pathogenic (Mar 29, 2023)	criteria provided, single submitter
Select item 146356433.	NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr) GRCh37: Chr5:77298875 GRCh38: Chr5:78003051	AP3B1	A1046T, A997T	Hermansky-Pudlak syndrome 2	Uncertain significance (Oct 28, 2021)	criteria provided, single submitter
Select item 166448134.	NM_003664.5(AP3B1):c.3132-5T>C GRCh37: Chr5:77298884 GRCh38: Chr5:78003060	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jun 16, 2021)	criteria provided, single submitter
Select item 212134035.	NM_003664.5(AP3B1):c.3132-16C>T GRCh37: Chr5:77298895 GRCh38: Chr5:78003071	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 134357536.	NM_003664.5(AP3B1):c.3132-22G>A GRCh37: Chr5:77298901 GRCh38: Chr5:78003077	AP3B1		not specified	Benign (Feb 16, 2022)	criteria provided, single submitter
Select item 117950537.	NM_003664.5(AP3B1):c.3132-299A>C GRCh37: Chr5:77299178 GRCh38: Chr5:78003354	AP3B1		not provided	Likely benign (Aug 21, 2019)	criteria provided, single submitter
Select item 128566938.	NM_003664.5(AP3B1):c.3131+282T>A GRCh37: Chr5:77310952 GRCh38: Chr5:78015128	AP3B1		not provided	Benign (Dec 24, 2018)	criteria provided, single submitter
Select item 120877839.	NM_003664.5(AP3B1):c.3131+104TA[7] GRCh37: Chr5:77311118-77311119 GRCh38: Chr5:78015294-78015295	AP3B1		not provided	Likely benign (Aug 21, 2019)	criteria provided, single submitter
Select item 167436740.	NM_003664.5(AP3B1):c.3131+19G>C GRCh37: Chr5:77311215 GRCh38: Chr5:78015391	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jun 6, 2021)	criteria provided, single submitter
Select item 208342041.	NM_003664.5(AP3B1):c.3131+18C>T GRCh37: Chr5:77311216 GRCh38: Chr5:78015392	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 35422142.	NM_003664.5(AP3B1):c.3131+5G>T GRCh37: Chr5:77311229 GRCh38: Chr5:78015405	AP3B1		not specified, Hermansky-Pudlak syndrome 2	Uncertain significance (Feb 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149380843.	NM_003664.5(AP3B1):c.3131+1G>A GRCh37: Chr5:77311233 GRCh38: Chr5:78015409	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 139174744.	NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg) GRCh37: Chr5:77311237 GRCh38: Chr5:78015413	AP3B1	H1043R, H994R	Hermansky-Pudlak syndrome 2	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 114634345.	NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=) GRCh37: Chr5:77311242 GRCh38: Chr5:78015418	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Sep 7, 2020)	criteria provided, single submitter
Select item 94749846.	NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His) GRCh37: Chr5:77311247 GRCh38: Chr5:78015423	AP3B1	D1040H, D991H	Inborn genetic diseases, Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 242919747.	NM_003664.5(AP3B1):c.3090del (p.Asn1031fs) GRCh37: Chr5:77311275 GRCh38: Chr5:78015451	AP3B1	N1031fs, N982fs	not specified	Uncertain significance (Jan 20, 2023)	criteria provided, single submitter
Select item 199711948.	NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val) GRCh37: Chr5:77311301 GRCh38: Chr5:78015477	AP3B1	I1022V, I973V	Hermansky-Pudlak syndrome 2	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 151160349.	NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala) GRCh37: Chr5:77311303 GRCh38: Chr5:78015479	AP3B1	V1021A, V972A	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 203593950.	NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=) GRCh37: Chr5:77311305 GRCh38: Chr5:78015481	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 74405051.	NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) GRCh37: Chr5:77311311 GRCh38: Chr5:78015487	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 150857352.	NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg) GRCh37: Chr5:77311321 GRCh38: Chr5:78015497	AP3B1	Q966R, Q1015R	Hermansky-Pudlak syndrome 2, Inborn genetic diseases	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22645953.	NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) GRCh37: Chr5:77311340-77311342 GRCh38: Chr5:78015516-78015518	AP3B1	A1008del, A959del	Autoinflammatory syndrome, not specified, Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19596254.	NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) GRCh37: Chr5:77311370 GRCh38: Chr5:78015546	AP3B1	V999M, V950M	Autoinflammatory syndrome, not specified, not provided, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 2	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 97201655.	NM_003664.5(AP3B1):c.2993-3C>T GRCh37: Chr5:77311375 GRCh38: Chr5:78015551	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 196851556.	NM_003664.5(AP3B1):c.2993-12T>C GRCh37: Chr5:77311384 GRCh38: Chr5:78015560	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jan 8, 2022)	criteria provided, single submitter
Select item 117036957.	NM_003664.5(AP3B1):c.2993-15C>A GRCh37: Chr5:77311387 GRCh38: Chr5:78015563	AP3B1		Hermansky-Pudlak syndrome 2	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 166772558.	NM_003664.5(AP3B1):c.2992+20T>C GRCh37: Chr5:77316496 GRCh38: Chr5:78020672	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Feb 1, 2021)	criteria provided, single submitter
Select item 161849159.	NM_003664.5(AP3B1):c.2992+10G>A GRCh37: Chr5:77316506 GRCh38: Chr5:78020682	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 103615060.	NM_003664.5(AP3B1):c.2992+3G>A GRCh37: Chr5:77316513 GRCh38: Chr5:78020689	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 139323861.	NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly) GRCh37: Chr5:77316521 GRCh38: Chr5:78020697	AP3B1	E947G, E996G	Hermansky-Pudlak syndrome 2	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 169623262.	NM_003664.5(AP3B1):c.2968_2969delinsTT (p.Glu990Leu) GRCh37: Chr5:77316539-77316540 GRCh38: Chr5:78020715-78020716	AP3B1	E941L, E990L	not specified	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 169416463.	NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val) GRCh37: Chr5:77316539 GRCh38: Chr5:78020715	AP3B1	E941V, E990V	Autoinflammatory syndrome	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 169415964.	NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter) GRCh37: Chr5:77316540 GRCh38: Chr5:78020716	AP3B1	E941, E990	Autoinflammatory syndrome	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 191234565.	NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr) GRCh37: Chr5:77316545 GRCh38: Chr5:78020721	AP3B1	M988T, M939T	Hermansky-Pudlak syndrome 2	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 146541866.	NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile) GRCh37: Chr5:77316561 GRCh38: Chr5:78020737	AP3B1	L983I, L934I	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 64880067.	NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser) GRCh37: Chr5:77316576 GRCh38: Chr5:78020752	AP3B1	P978S, P929S	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 76329168.	NM_003664.5(AP3B1):c.2928G>A (p.Gln976=) GRCh37: Chr5:77316580 GRCh38: Chr5:78020756	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Aug 10, 2018)	criteria provided, single submitter
Select item 116169869.	NM_003664.5(AP3B1):c.2922T>C (p.Asn974=) GRCh37: Chr5:77316586 GRCh38: Chr5:78020762	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Feb 23, 2019)	criteria provided, single submitter
Select item 46488470.	NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) GRCh37: Chr5:77316593 GRCh38: Chr5:78020769	AP3B1	N972S, N923S	not provided, Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, not specified, Hermansky-Pudlak syndrome	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 35422271.	NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) GRCh37: Chr5:77316602 GRCh38: Chr5:78020778	AP3B1	D969G, D920G	Hermansky-Pudlak syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 64500072.	NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg) GRCh37: Chr5:77316608 GRCh38: Chr5:78020784	AP3B1	K967R, K918R	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 95211473.	NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile) GRCh37: Chr5:77316611 GRCh38: Chr5:78020787	AP3B1	T917I, T966I	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 110534474.	NM_003664.5(AP3B1):c.2895-19T>A GRCh37: Chr5:77316632 GRCh38: Chr5:78020808	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jan 2, 2021)	criteria provided, single submitter
Select item 122490475.	NM_003664.5(AP3B1):c.2895-210A>G GRCh37: Chr5:77316823 GRCh38: Chr5:78020999	AP3B1		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 215936576.	NM_003664.5(AP3B1):c.2894+10A>G GRCh37: Chr5:77330175 GRCh38: Chr5:78034351	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 105192177.	NM_003664.5(AP3B1):c.2894+4A>G GRCh37: Chr5:77330181 GRCh38: Chr5:78034357	AP3B1		Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 149029578.	NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg) GRCh37: Chr5:77330186 GRCh38: Chr5:78034362	AP3B1	C916R, C965R	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 211411679.	NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser) GRCh37: Chr5:77330188 GRCh38: Chr5:78034364	AP3B1	L915S, L964S	Hermansky-Pudlak syndrome 2	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 169623180.	NM_003664.5(AP3B1):c.2890T>G (p.Leu964Val) GRCh37: Chr5:77330189 GRCh38: Chr5:78034365	AP3B1	L915V, L964V	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 62588881.	NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) GRCh37: Chr5:77330189 GRCh38: Chr5:78034365	AP3B1		Hermansky-Pudlak syndrome 2	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 35422382.	NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) GRCh37: Chr5:77330199 GRCh38: Chr5:78034375	AP3B1		Autoinflammatory syndrome, Hermansky-Pudlak syndrome, not specified, Hermansky-Pudlak syndrome 2	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 107760183.	NM_003664.5(AP3B1):c.2856C>T (p.Asp952=) GRCh37: Chr5:77330223 GRCh38: Chr5:78034399	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jun 15, 2020)	criteria provided, single submitter
Select item 73957284.	NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) GRCh37: Chr5:77330226 GRCh38: Chr5:78034402	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 146156685.	NM_003664.5(AP3B1):c.2822C>A (p.Pro941His) GRCh37: Chr5:77330257 GRCh38: Chr5:78034433	AP3B1	P892H, P941H	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 57622886.	NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) GRCh37: Chr5:77330267 GRCh38: Chr5:78034443	AP3B1	S938P, S889P	Hermansky-Pudlak syndrome 2	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35422487.	NM_003664.5(AP3B1):c.2810-4C>T GRCh37: Chr5:77330273 GRCh38: Chr5:78034449	AP3B1		Autoinflammatory syndrome, not provided, Hermansky-Pudlak syndrome 2	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93711688.	NM_003664.5(AP3B1):c.2810-7T>A GRCh37: Chr5:77330276 GRCh38: Chr5:78034452	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 119034989.	NM_003664.5(AP3B1):c.2810-227T>C GRCh37: Chr5:77330496 GRCh38: Chr5:78034672	AP3B1		not provided	Likely benign (Nov 10, 2018)	criteria provided, single submitter
Select item 170694490.	NM_003664.5(AP3B1):c.2809+120A>G GRCh37: Chr5:77334747 GRCh38: Chr5:78038923	AP3B1		not provided	Likely benign (Nov 24, 2020)	criteria provided, single submitter
Select item 160497291.	NM_003664.5(AP3B1):c.2809+20T>G GRCh37: Chr5:77334847 GRCh38: Chr5:78039023	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 162221492.	NM_003664.5(AP3B1):c.2809+16C>T GRCh37: Chr5:77334851 GRCh38: Chr5:78039027	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 213366493.	NM_003664.5(AP3B1):c.2809+15T>C GRCh37: Chr5:77334852 GRCh38: Chr5:78039028	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 156902694.	NM_003664.5(AP3B1):c.2809+14C>A GRCh37: Chr5:77334853 GRCh38: Chr5:78039029	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 96675695.	NM_003664.5(AP3B1):c.2809+4A>G GRCh37: Chr5:77334863 GRCh38: Chr5:78039039	AP3B1		Hermansky-Pudlak syndrome 2, not provided	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145559896.	NM_003664.5(AP3B1):c.2801del (p.Asn934fs) GRCh37: Chr5:77334875 GRCh38: Chr5:78039051	AP3B1	N885fs, N934fs	Hermansky-Pudlak syndrome 2	Pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 149953197.	NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu) GRCh37: Chr5:77334877 GRCh38: Chr5:78039053	AP3B1	F933L, F884L	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 155757298.	NM_003664.5(AP3B1):c.2793T>C (p.His931=) GRCh37: Chr5:77334883 GRCh38: Chr5:78039059	AP3B1		Hermansky-Pudlak syndrome 2	Likely benign (May 7, 2021)	criteria provided, single submitter
Select item 200248399.	NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr) GRCh37: Chr5:77334893 GRCh38: Chr5:78039069	AP3B1	M928T, M879T	Hermansky-Pudlak syndrome 2	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 1376119100.	NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp) GRCh37: Chr5:77334896 GRCh38: Chr5:78039072	AP3B1	G878D, G927D	Hermansky-Pudlak syndrome 2	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter

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