93953[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	VAMP7, VBP1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068159, LOC130068160 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC111365170, LOC111365174 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC110120679, LOC110120680 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	GK, GK-AS1 +1475 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	ABCB7, ACE2 +1628 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068277, LOC130068278 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	ABCB7, ACE2 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC126863344, LOC126863345 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC125467792, LOC125467793 +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ABCB7, ABCD1 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	VCX3B, VEGFD +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	CENPVL1, CENPVL2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	CT47A6, CT47A7 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	CTPS2, CUL4B +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC130068611, LOC130068612 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	ABCB7, ACE2 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC109396974, LOC109504725 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	WDR13, WDR44 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LINC00629, LINC00630 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	MIR1321, MIR1468 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	TSR2, TXLNG +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	DMRTC1, DMRTC1B +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	DLG3, DLG3-AS1 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC116309156, LOC116309157 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130068344, LOC130068345 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC129391311, LOC129391312 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	SYTL4, SYTL5 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	LOC130068430, LOC130068431 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068386, LOC130068387 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +410 more	Copy number loss	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	LOC126863296, LOC126863297 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	LOC126863270, LOC126863271 +263 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	ABCB7, ABCD1 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068371, LOC130068372 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	TEX11, TSIX +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	MIR421, MIR545 +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 155458	GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2	LOC130068418, LOC130068419 +44 more	Copy number gain	See cases	GUncertain significance
Select item 155235	GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2	CXCR3, CXorf49 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3099104	NM_052957.5(GCNA):c.40C>T (p.Pro14Ser)	GCNA (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099111	NM_052957.5(GCNA):c.62A>G (p.Tyr21Cys)	GCNA (Y21C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099114	NM_052957.5(GCNA):c.84C>G (p.Ser28Arg)	GCNA (S28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454344	NM_052957.5(GCNA):c.89A>G (p.Asp30Gly)	GCNA (D30G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3099095	NM_052957.5(GCNA):c.143G>A (p.Cys48Tyr)	GCNA (C48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599340	NM_052957.5(GCNA):c.202G>C (p.Ala68Pro)	GCNA (A68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099102	NM_052957.5(GCNA):c.263A>G (p.His88Arg)	GCNA (H88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099103	NM_052957.5(GCNA):c.307G>A (p.Asp103Asn)	GCNA (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244252	NM_052957.5(GCNA):c.343del (p.Ala115fs)	GCNA (A115fs)	Deletion (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2469497	NM_052957.5(GCNA):c.421G>A (p.Asp141Asn)	GCNA (D141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024732	NM_052957.5(GCNA):c.438A>G (p.Ser146=)	GCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024813	NM_052957.5(GCNA):c.477T>C (p.Pro159=)	GCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529435	NM_052957.5(GCNA):c.491A>G (p.Asp164Gly)	GCNA (D164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099105	NM_052957.5(GCNA):c.510C>A (p.Asp170Glu)	GCNA (D170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660886	NM_052957.5(GCNA):c.540C>T (p.Asp180=)	GCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099106	NM_052957.5(GCNA):c.541G>A (p.Asp181Asn)	GCNA (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099107	NM_052957.5(GCNA):c.565C>T (p.Pro189Ser)	GCNA (P189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099108	NM_052957.5(GCNA):c.568G>A (p.Asp190Asn)	GCNA (D190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458388	NM_052957.5(GCNA):c.616G>A (p.Asp206Asn)	GCNA (D206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099109	NM_052957.5(GCNA):c.619G>A (p.Asp207Asn)	GCNA (D207N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099110	NM_052957.5(GCNA):c.624C>G (p.Asn208Lys)	GCNA (N208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099112	NM_052957.5(GCNA):c.635C>T (p.Ser212Leu)	GCNA (S212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601641	NM_052957.5(GCNA):c.654G>C (p.Lys218Asn)	GCNA (K218N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3099113	NM_052957.5(GCNA):c.701T>A (p.Val234Asp)	GCNA (V234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469905	NM_052957.5(GCNA):c.793C>T (p.Pro265Ser)	GCNA (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548079	NM_052957.5(GCNA):c.815C>T (p.Ser272Leu)	GCNA (S272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099115	NM_052957.5(GCNA):c.856G>A (p.Asp286Asn)	GCNA (D286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025388	NM_052957.5(GCNA):c.871G>T (p.Asp291Tyr)	GCNA (D291Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099116	NM_052957.5(GCNA):c.984T>G (p.Asn328Lys)	GCNA (N328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099091	NM_052957.5(GCNA):c.1040T>C (p.Ile347Thr)	GCNA (I347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099092	NM_052957.5(GCNA):c.1043C>T (p.Ala348Val)	GCNA (A348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099093	NM_052957.5(GCNA):c.1070C>G (p.Ala357Gly)	GCNA (A357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180854	NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter)	GCNA (E394*)	Single nucleotide variant (nonsense)	Spermatogenic failure, X-linked, 4 +1 more	GPathogenic
Select item 2618228	NM_052957.5(GCNA):c.1235A>C (p.Lys412Thr)	GCNA (K412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466309	NM_052957.5(GCNA):c.1285A>T (p.Thr429Ser)	GCNA (T429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099094	NM_052957.5(GCNA):c.1342A>G (p.Ile448Val)	GCNA (I448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591406	NM_052957.5(GCNA):c.1412G>A (p.Arg471His)	GCNA (R471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660887	NM_052957.5(GCNA):c.1489G>A (p.Gly497Arg)	GCNA (G497R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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