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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 9306331.	NM_198576.4(AGRN):c.1177+4_1177+50del GRCh37: Chr1:977059-977105 GRCh38: Chr1:1041679-1041725	AGRN		Congenital myasthenic syndrome 8	Likely pathogenic (Oct 24, 2018)	criteria provided, single submitter	VCV000930633
Select item 12842562.	NM_198576.4(AGRN):c.1385-42G>C GRCh37: Chr1:978577 GRCh38: Chr1:1043197	AGRN		Congenital myasthenic syndrome 8	Pathogenic (Sep 22, 2021)	no assertion criteria provided	VCV001284256
Select item 6236643.	NM_198576.4(AGRN):c.1507G>A (p.Gly503Ser) GRCh37: Chr1:978741 GRCh38: Chr1:1043361	AGRN	G503S, G398S	not provided	Uncertain significance (Jun 1, 2018)	criteria provided, single submitter	VCV000623664
Select item 9323164.	NM_198576.4(AGRN):c.2590G>A (p.Gly864Arg) GRCh37: Chr1:981166 GRCh38: Chr1:1045786	AGRN	G864R, G759R	not provided	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter	VCV000932316
Select item 8060275.	NM_198576.4(AGRN):c.3194G>A (p.Gly1065Glu) GRCh37: Chr1:982059 GRCh38: Chr1:1046679	AGRN	G1065E, G960E	not provided	Uncertain significance (May 1, 2016)	criteria provided, single submitter	VCV000806027
Select item 2631806.	NM_198576.4(AGRN):c.3388+19G>A GRCh37: Chr1:982356 GRCh38: Chr1:1046976	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263180
Select item 8726887.	NM_198576.4(AGRN):c.3568C>A (p.Arg1190Ser) GRCh37: Chr1:983004 GRCh38: Chr1:1047624	AGRN	R1190S, R1085S	not provided	Uncertain significance (Jul 1, 2019)	criteria provided, single submitter	VCV000872688
Select item 13229378.	NM_198576.4(AGRN):c.4217_4218del (p.Gln1406fs) GRCh37: Chr1:984358-984359 GRCh38: Chr1:1048978-1048979	AGRN	Q1301fs, Q1406fs	Congenital myasthenic syndrome 8	Pathogenic (Nov 9, 2021)	no assertion criteria provided	VCV001322937
Select item 12842579.	NM_198576.4(AGRN):c.4999G>A (p.Val1667Met) GRCh37: Chr1:985829 GRCh38: Chr1:1050449	AGRN	V1562M, V1667M	Congenital myasthenic syndrome 8	Pathogenic (Sep 22, 2021)	no assertion criteria provided	VCV001284257
Select item 26320110.	NM_198576.4(AGRN):c.6054G>A (p.Arg2018=) GRCh37: Chr1:990277 GRCh38: Chr1:1054897	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263201
Select item 132396711.	NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs) GRCh37: Chr1:1167855-1167864 GRCh38: Chr1:1232475-1232484	B3GALT6	R68fs	not provided	Likely pathogenic (Jun 23, 2020)	no assertion criteria provided	VCV001323967
Select item 42488512.	NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg) GRCh37: Chr1:1167996 GRCh38: Chr1:1232616	B3GALT6	Q113R	not provided	Uncertain significance (Mar 1, 2017)	criteria provided, single submitter	VCV000424885
Select item 101271813.	NM_080605.4(B3GALT6):c.688_708dup (p.Leu230_Arg236dup) GRCh37: Chr1:1168334-1168335 GRCh38: Chr1:1232954-1232955	B3GALT6		not provided	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter	VCV001012718
Select item 80603014.	NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter) GRCh37: Chr1:1168339 GRCh38: Chr1:1232959	B3GALT6	Y227*	not provided	Likely pathogenic (Jul 1, 2019)	criteria provided, single submitter	VCV000806030
Select item 80603115.	NM_080605.4(B3GALT6):c.693C>G (p.Ser231Arg) GRCh37: Chr1:1168351 GRCh38: Chr1:1232971	B3GALT6	S231R	not provided	Uncertain significance (Jul 1, 2019)	criteria provided, single submitter	VCV000806031
Select item 132396616.	NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) GRCh37: Chr1:1168556-1168557 GRCh38: Chr1:1233176-1233177	B3GALT6	R302fs	not provided	Likely pathogenic (Nov 1, 2021)	no assertion criteria provided	VCV001323966
Select item 133044817.	NM_001130413.4(SCNN1D):c.736C>T (p.Arg246Cys) GRCh37: Chr1:1221483 GRCh38: Chr1:1286103	SCNN1D	R246C	not provided	Uncertain significance (Feb 5, 2021)	criteria provided, single submitter	VCV001330448
Select item 133053718.	NM_153339.3(PUSL1):c.693T>G (p.Tyr231Ter) GRCh37: Chr1:1246062 GRCh38: Chr1:1310682	PUSL1	Y231*	not provided	Uncertain significance (Feb 4, 2021)	criteria provided, single submitter	VCV001330537
Select item 93159219.	NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa) GRCh37: Chr1:1271515-1271532 GRCh38: Chr1:1336135-1336152	DVL1		Autosomal dominant Robinow syndrome 1	Uncertain significance (Sep 23, 2019)	criteria provided, single submitter	VCV000931592
Select item 122434620.	NM_001330311.2(DVL1):c.2005G>A (p.Val669Ile) GRCh37: Chr1:1271605 GRCh38: Chr1:1336225	DVL1	V644I, V669I	not provided	Uncertain significance (Nov 30, 2019)	criteria provided, single submitter	VCV001224346
Select item 93163021.	NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) GRCh37: Chr1:1273387-1273388 GRCh38: Chr1:1338007-1338008	DVL1	S537fs, S562fs	Autosomal dominant Robinow syndrome 1	Likely pathogenic (Aug 9, 2019)	criteria provided, single submitter	VCV000931630
Select item 20818922.	NM_001330311.2(DVL1):c.1507+1_1508-1del GRCh37: Chr1:1273564-1273648 GRCh38: Chr1:1338184-1338268	DVL1		not provided	not provided	no assertion provided	VCV000208189
Select item 117649023.	NM_001330311.2(DVL1):c.1278C>T (p.Asp426=) GRCh37: Chr1:1273963 GRCh38: Chr1:1338583	DVL1		not provided	Likely benign (Jun 1, 2021)	criteria provided, single submitter	VCV001176490
Select item 122440724.	NM_001330311.2(DVL1):c.165C>G (p.Asp55Glu) GRCh37: Chr1:1284281 GRCh38: Chr1:1348901	DVL1	D55E	not provided	Uncertain significance (Dec 30, 2019)	criteria provided, single submitter	VCV001224407
Select item 83032925.	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del) GRCh37: Chr1:1372416-1372439 GRCh38: Chr1:1437036-1437059	VWA1		Neuromuscular disease	Likely pathogenic (Jan 1, 2020)	no assertion criteria provided	VCV000830329
Select item 167533126.	NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter) GRCh37: Chr1:1374916-1374917 GRCh38: Chr1:1439536-1439537	VWA1	Y364*	not provided	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter	VCV001675331
Select item 167533227.	NM_001170535.3(ATAD3A):c.19A>G (p.Ile7Val) GRCh37: Chr1:1447667 GRCh38: Chr1:1512287	ATAD3A	I7V	not provided	Benign (Mar 1, 2022)	criteria provided, single submitter	VCV001675332
Select item 117649128.	NM_001170535.3(ATAD3A):c.234A>G (p.Ala78=) GRCh37: Chr1:1451420 GRCh38: Chr1:1516040	ATAD3A		not provided	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter	VCV001176491
Select item 129839529.	NM_001170535.3(ATAD3A):c.298G>A (p.Val100Met) GRCh37: Chr1:1452706 GRCh38: Chr1:1517326	ATAD3A	V100M, V148M, V21M	not provided	Likely benign (Aug 1, 2021)	criteria provided, single submitter	VCV001298395
Select item 101271930.	NM_001170535.3(ATAD3A):c.360C>T (p.Ser120=) GRCh37: Chr1:1452768 GRCh38: Chr1:1517388	ATAD3A		not provided	Likely benign (Nov 1, 2020)	criteria provided, single submitter	VCV001012719
Select item 117649231.	NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=) GRCh37: Chr1:1452792 GRCh38: Chr1:1517412	ATAD3A		not provided	Likely benign (May 1, 2021)	criteria provided, single submitter	VCV001176492
Select item 98683332.	NM_001170535.3(ATAD3A):c.384+1G>A GRCh37: Chr1:1452793 GRCh38: Chr1:1517413	ATAD3A		not provided	Likely pathogenic (Oct 23, 2020)	criteria provided, single submitter	VCV000986833
Select item 80603233.	NM_001170535.3(ATAD3A):c.419G>A (p.Arg140His) GRCh37: Chr1:1453130 GRCh38: Chr1:1517750	ATAD3A	R61H, R188H, R140H	not provided	Uncertain significance (Oct 1, 2018)	criteria provided, single submitter	VCV000806032
Select item 133494034.	NM_001170535.3(ATAD3A):c.462G>T (p.Glu154Asp) GRCh37: Chr1:1454318 GRCh38: Chr1:1518938	ATAD3A	E154D, E202D, E75D	not provided	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter	VCV001334940
Select item 134324735.	NM_001170535.3(ATAD3A):c.574_591dup (p.Glu192_Ala197dup) GRCh37: Chr1:1455576-1455577 GRCh38: Chr1:1520196-1520197	ATAD3A			no interpretation for the single variant	no interpretation for the single variant	VCV001343247
Select item 80603336.	NM_001170535.3(ATAD3A):c.571G>A (p.Ala191Thr) GRCh37: Chr1:1455577 GRCh38: Chr1:1520197	ATAD3A	A191T, A112T, A239T	not provided	Uncertain significance (Oct 1, 2018)	criteria provided, single submitter	VCV000806033
Select item 167533337.	NM_001170535.3(ATAD3A):c.616ATC[1] (p.Ile207del) GRCh37: Chr1:1455621-1455623 GRCh38: Chr1:1520241-1520243	ATAD3A	I128del, I207del, I255del	not provided	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter	VCV001675333
Select item 117649338.	NM_001170535.3(ATAD3A):c.792C>T (p.Ala264=) GRCh37: Chr1:1458165 GRCh38: Chr1:1522785	ATAD3A		not provided	Likely benign (May 1, 2021)	criteria provided, single submitter	VCV001176493
Select item 129839639.	NM_001170535.3(ATAD3A):c.928C>T (p.Arg310Ter) GRCh37: Chr1:1458912 GRCh38: Chr1:1523532	ATAD3A	R231, R310, R358*	not provided	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter	VCV001298396
Select item 167533540.	NM_001170535.3(ATAD3A):c.1227T>C (p.Phe409=) GRCh37: Chr1:1460632 GRCh38: Chr1:1525252	ATAD3A		not provided	Likely benign (Feb 1, 2022)	criteria provided, single submitter	VCV001675335
Select item 133494141.	NM_001170535.3(ATAD3A):c.1703A>T (p.Lys568Met) GRCh37: Chr1:1469394 GRCh38: Chr1:1534014	ATAD3A	K489M, K568M, K616M	not provided	Likely benign (Nov 1, 2021)	criteria provided, single submitter	VCV001334941
Select item 80603442.	NM_001170535.3(ATAD3A):c.1725A>G (p.Glu575=) GRCh37: Chr1:1469416 GRCh38: Chr1:1534036	ATAD3A		not provided	Likely benign (Dec 1, 2018)	criteria provided, single submitter	VCV000806034
Select item 134241143.	NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe) GRCh37: Chr1:1469442 GRCh38: Chr1:1534062	ATAD3A	S505F, S584F, S632F	Harel-Yoon syndrome	Uncertain significance (Mar 12, 2021)	criteria provided, single submitter	VCV001342411
Select item 80603544.	NM_001114748.2(TMEM240):c.408C>A (p.Ser136Arg) GRCh37: Chr1:1470853 GRCh38: Chr1:1535473	TMEM240	S136R	not provided	Uncertain significance (Jun 1, 2019)	criteria provided, single submitter	VCV000806035
Select item 80603645.	NM_001114748.2(TMEM240):c.264C>T (p.Ile88=) GRCh37: Chr1:1471078 GRCh38: Chr1:1535698	TMEM240		not provided	Uncertain significance (Oct 1, 2017)	criteria provided, single submitter	VCV000806036
Select item 129559146.	NM_001114748.2(TMEM240):c.164+193C>G GRCh37: Chr1:1474871 GRCh38: Chr1:1539491	LOC121967044, TMEM240		not provided	Benign (Sep 25, 2019)	criteria provided, single submitter	VCV001295591
Select item 101272047.	NM_001114748.2(TMEM240):c.143T>G (p.Val48Gly) GRCh37: Chr1:1475085 GRCh38: Chr1:1539705	TMEM240	V48G	not provided	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter	VCV001012720
Select item 52344448.	NM_033486.3(CDK11B):c.119A>G (p.Asp40Gly) GRCh37: Chr1:1586931 GRCh38: Chr1:1655477	CDK11B	D40G, D6G	Seizure	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter	VCV000523444
Select item 99596349.	NM_002074.5(GNB1):c.727A>G (p.Thr243Ala) GRCh37: Chr1:1720681 GRCh38: Chr1:1789242	GNB1	T143A, T243A	Intellectual disability, autosomal dominant 42	Pathogenic (Feb 26, 2020)	no assertion criteria provided	VCV000995963
Select item 80603750.	NM_002074.5(GNB1):c.582T>C (p.Pro194=) GRCh37: Chr1:1721951 GRCh38: Chr1:1790512	GNB1		not provided	Likely benign (Apr 1, 2018)	criteria provided, single submitter	VCV000806037
Select item 99679751.	NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) GRCh37: Chr1:1735941 GRCh38: Chr1:1804502	GNB1	G116D, G16D	not provided	Likely pathogenic (Feb 1, 2021)	criteria provided, single submitter	VCV000996797
Select item 133494252.	NM_002074.5(GNB1):c.286C>T (p.Arg96Cys) GRCh37: Chr1:1736002 GRCh38: Chr1:1804563	GNB1	R96C	not provided	Likely pathogenic (Nov 1, 2021)	criteria provided, single submitter	VCV001334942
Select item 80603853.	NM_002074.5(GNB1):c.12T>G (p.Leu4=) GRCh37: Chr1:1756881 GRCh38: Chr1:1825442	GNB1		not provided	Likely benign (Dec 1, 2018)	criteria provided, single submitter	VCV000806038
Select item 167962154.	NM_000815.5(GABRD):c.69-4C>T GRCh37: Chr1:1956377 GRCh38: Chr1:2024938	GABRD		Epilepsy, idiopathic generalized, susceptibility to, 10	Uncertain significance (Jun 4, 2021)	criteria provided, single submitter	VCV001679621
Select item 80603955.	NM_000815.5(GABRD):c.167G>A (p.Arg56Gln) GRCh37: Chr1:1956479 GRCh38: Chr1:2025040	GABRD	R56Q	not provided	Uncertain significance (May 1, 2016)	criteria provided, single submitter	VCV000806039
Select item 93115556.	NM_000815.5(GABRD):c.337A>G (p.Ser113Gly) GRCh37: Chr1:1957044 GRCh38: Chr1:2025605	GABRD	S113G	Epilepsy, idiopathic generalized, susceptibility to, 10	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter	VCV000931155
Select item 134191757.	NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg) GRCh37: Chr1:1961477 GRCh38: Chr1:2030038	GABRD	Q372R	Epilepsy, idiopathic generalized, susceptibility to, 10	Uncertain significance (Jun 12, 2020)	criteria provided, single submitter	VCV001341917
Select item 134262758.	NM_000815.5(GABRD):c.1355T>C (p.Met452Thr) GRCh37: Chr1:1961717 GRCh38: Chr1:2030278	GABRD	M452T	Epilepsy, idiopathic generalized, susceptibility to, 10	Uncertain significance (Mar 5, 2021)	criteria provided, single submitter	VCV001342627
Select item 72357359.	NM_002744.6(PRKCZ):c.1764C>T (p.Thr588=) GRCh37: Chr1:2116433 GRCh38: Chr1:2184994	FAAP20, PRKCZ		not provided	Benign (Dec 31, 2019)	criteria provided, single submitter	VCV000723573
Select item 131916760.	NM_003036.4(SKI):c.41A>C (p.His14Pro) GRCh37: Chr1:2160246 GRCh38: Chr1:2228807	SKI	H14P	Shprintzen-Goldberg syndrome	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter	VCV001319167
Select item 129839861.	NM_003036.4(SKI):c.137C>G (p.Ala46Gly) GRCh37: Chr1:2160342 GRCh38: Chr1:2228903	SKI	A46G	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter	VCV001298398
Select item 97854062.	NM_003036.4(SKI):c.163G>C (p.Ala55Pro) GRCh37: Chr1:2160368 GRCh38: Chr1:2228929	SKI	A55P	not provided	Uncertain significance (Mar 11, 2018)	criteria provided, single submitter	VCV000978540
Select item 134172363.	NM_003036.4(SKI):c.623C>T (p.Ala208Val) GRCh37: Chr1:2160828 GRCh38: Chr1:2229389	SKI	A208V	Shprintzen-Goldberg syndrome	Uncertain significance (Jun 18, 2020)	criteria provided, single submitter	VCV001341723
Select item 133494364.	NM_003036.4(SKI):c.851A>G (p.Tyr284Cys) GRCh37: Chr1:2161056 GRCh38: Chr1:2229617	SKI	Y284C	not provided	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter	VCV001334943
Select item 131916665.	NM_003036.4(SKI):c.953dup (p.Arg319fs) GRCh37: Chr1:2161156-2161157 GRCh38: Chr1:2229717-2229718	SKI	R319fs	Shprintzen-Goldberg syndrome	Pathogenic (Nov 3, 2021)	criteria provided, single submitter	VCV001319166
Select item 49301466.	NM_003036.4(SKI):c.1025A>G (p.Gln342Arg) GRCh37: Chr1:2234472 GRCh38: Chr1:2303033	SKI	Q342R	not provided	Uncertain significance (Oct 1, 2017)	criteria provided, single submitter	VCV000493014
Select item 167533667.	NM_003036.4(SKI):c.1096-7T>G GRCh37: Chr1:2234717 GRCh38: Chr1:2303278	SKI		not provided	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter	VCV001675336
Select item 133063368.	NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) GRCh37: Chr1:2234724 GRCh38: Chr1:2303285	SKI	S366R	Shprintzen-Goldberg syndrome	Uncertain significance (Jan 31, 2021)	criteria provided, single submitter	VCV001330633
Select item 44415069.	NM_003036.4(SKI):c.1124G>A (p.Arg375His) GRCh37: Chr1:2234752 GRCh38: Chr1:2303313	SKI	R375H	not provided	Uncertain significance (Jun 1, 2017)	criteria provided, single submitter	VCV000444150
Select item 93231870.	NM_003036.4(SKI):c.1128C>T (p.Leu376=) GRCh37: Chr1:2234756 GRCh38: Chr1:2303317	SKI		not provided	Likely benign (Apr 1, 2020)	criteria provided, single submitter	VCV000932318
Select item 81144171.	NM_003036.4(SKI):c.1317C>T (p.Val439=) GRCh37: Chr1:2235384 GRCh38: Chr1:2303945	SKI		Shprintzen-Goldberg syndrome	Likely benign (May 23, 2019)	criteria provided, single submitter	VCV000811441
Select item 63697972.	NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) GRCh37: Chr1:2235403 GRCh38: Chr1:2303964	SKI	L446F	not provided	Uncertain significance (Mar 5, 2019)	criteria provided, single submitter	VCV000636979
Select item 133494473.	NM_003036.4(SKI):c.1521C>T (p.Ser507=) GRCh37: Chr1:2235778 GRCh38: Chr1:2304339	SKI		not provided	Likely benign (Dec 1, 2021)	criteria provided, single submitter	VCV001334944
Select item 93231974.	NM_003036.4(SKI):c.1687C>T (p.Leu563=) GRCh37: Chr1:2235944 GRCh38: Chr1:2304505	SKI		not provided	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter	VCV000932319
Select item 49301575.	NM_003036.4(SKI):c.1968G>T (p.Ala656=) GRCh37: Chr1:2237659 GRCh38: Chr1:2306220	SKI		not provided	Likely benign (Jul 1, 2017)	criteria provided, single submitter	VCV000493015
Select item 62366676.	NM_003036.4(SKI):c.1994C>T (p.Ala665Val) GRCh37: Chr1:2237685 GRCh38: Chr1:2306246	SKI	A665V	not provided	Uncertain significance (Jul 1, 2018)	criteria provided, single submitter	VCV000623666
Select item 93232077.	NM_003036.4(SKI):c.2057C>T (p.Ala686Val) GRCh37: Chr1:2238074 GRCh38: Chr1:2306635	SKI	A686V	not provided	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter	VCV000932320
Select item 87638578.	NM_002617.4(PEX10):c.*951G>C GRCh37: Chr1:2336254 GRCh38: Chr1:2404815	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000876385
Select item 87638679.	NM_002617.4(PEX10):c.*905A>C GRCh37: Chr1:2336300 GRCh38: Chr1:2404861	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000876386
Select item 29625280.	NM_002617.4(PEX10):c.*854G>A GRCh37: Chr1:2336351 GRCh38: Chr1:2404912	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296252
Select item 29625381.	NM_002617.4(PEX10):c.*838C>T GRCh37: Chr1:2336367 GRCh38: Chr1:2404928	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296253
Select item 29625482.	NM_002617.4(PEX10):c.*835C>T GRCh37: Chr1:2336370 GRCh38: Chr1:2404931	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296254
Select item 87443483.	NM_002617.4(PEX10):c.*824G>A GRCh37: Chr1:2336381 GRCh38: Chr1:2404942	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000874434
Select item 29625584.	NM_002617.4(PEX10):c.*798C>T GRCh37: Chr1:2336407 GRCh38: Chr1:2404968	RER1, PEX10		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296255
Select item 29625685.	NM_002617.4(PEX10):c.*782C>A GRCh37: Chr1:2336423 GRCh38: Chr1:2404984	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000296256
Select item 29625786.	NM_002617.4(PEX10):c.*744dup GRCh37: Chr1:2336460-2336461 GRCh38: Chr1:2405021-2405022	RER1, PEX10		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000296257
Select item 29625887.	NM_002617.4(PEX10):c.*732G>A GRCh37: Chr1:2336473 GRCh38: Chr1:2405034	RER1, PEX10		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296258
Select item 29625988.	NM_002617.4(PEX10):c.*688G>T GRCh37: Chr1:2336517 GRCh38: Chr1:2405078	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296259
Select item 87534189.	NM_002617.4(PEX10):c.*686C>G GRCh37: Chr1:2336519 GRCh38: Chr1:2405080	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000875341
Select item 87534290.	NM_002617.4(PEX10):c.*676C>T GRCh37: Chr1:2336529 GRCh38: Chr1:2405090	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Likely benign (Jan 13, 2018)	criteria provided, single submitter	VCV000875342
Select item 87534391.	NM_002617.4(PEX10):c.*643C>T GRCh37: Chr1:2336562 GRCh38: Chr1:2405123	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000875343
Select item 29626092.	NM_002617.4(PEX10):c.*627C>T GRCh37: Chr1:2336578 GRCh38: Chr1:2405139	RER1, PEX10		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296260
Select item 87534493.	NM_002617.4(PEX10):c.*595G>A GRCh37: Chr1:2336610 GRCh38: Chr1:2405171	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Likely benign (Jan 12, 2018)	criteria provided, single submitter	VCV000875344
Select item 29626194.	NM_002617.4(PEX10):c.*594C>T GRCh37: Chr1:2336611 GRCh38: Chr1:2405172	RER1, PEX10		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296261
Select item 29626295.	NM_002617.4(PEX10):c.*499G>A GRCh37: Chr1:2336706 GRCh38: Chr1:2405267	RER1, PEX10		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000296262
Select item 87534596.	NM_002617.4(PEX10):c.*445G>A GRCh37: Chr1:2336760 GRCh38: Chr1:2405321	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter	VCV000875345
Select item 29626397.	NM_002617.4(PEX10):c.*420G>A GRCh37: Chr1:2336785 GRCh38: Chr1:2405346	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296263
Select item 29626498.	NM_002617.4(PEX10):c.*410G>A GRCh37: Chr1:2336795 GRCh38: Chr1:2405356	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296264
Select item 87539899.	NM_002617.4(PEX10):c.*401A>C GRCh37: Chr1:2336804 GRCh38: Chr1:2405365	PEX10, RER1		Peroxisome biogenesis disorder 6A (Zellweger)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000875398
Select item 296265100.	NM_002617.4(PEX10):c.*352G>A GRCh37: Chr1:2336853 GRCh38: Chr1:2405414	RER1, PEX10		Peroxisome biogenesis disorder 6A (Zellweger)	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000296265

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