6736[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488031	Single allele	LOC106128902, LOC106144556 +160 more	Duplication	Autism	GLikely pathogenic
Select item 146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	AKAP17A, AMELY +88 more	Copy number loss	See cases	GPathogenic
Select item 148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	AKAP17A, AMELY +101 more	Copy number loss	See cases	GPathogenic
Select item 146390	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 146389	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 155352	GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3	AKAP17A, AMELY +83 more	Copy number gain	See cases	GLikely pathogenic
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 more	Copy number loss	See cases	GPathogenic
Select item 150476	GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0	AMELY, BPY2 +129 more	Copy number loss	See cases	GPathogenic
Select item 151963	GRCh38/hg38 Yp11.2-q11.222(chrY:2782272-17454794)x2	FAM197Y7, FAM197Y8 +64 more	Copy number gain	See cases	GPathogenic
Select item 58795	GRCh38/hg38 Yp11.2(chrY:2783624-5104946)x2	LINC00278, LOC108178989 +7 more	Copy number gain	See cases	GPathogenic
Select item 58793	GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2	AMELY, DDX3Y +54 more	Copy number gain	See cases	GPathogenic
Select item 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 144551	GRCh38/hg38 Yp11.2(chrY:2785763-3026851)x2	LINC00278, LOC108178989 +4 more	Copy number gain	See cases	GPathogenic
Select item 146874	GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0	AMELY, BPY2 +124 more	Copy number loss	See cases	GPathogenic
Select item 153054	GRCh38/hg38 Yp11.2(chrY:2786811-2863458)x3	LOC108178989, RPS4Y1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 58799	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 58798	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 57321	GRCh38/hg38 Yp11.2(chrY:2786811-9007152)x2	AMELY, FAM197Y9 +26 more	Copy number gain	See cases	GPathogenic
Select item 57270	GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2	AMELY, CDY2A +100 more	Copy number gain	See cases	GPathogenic
Select item 58800	GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2	LOC108178989, RPS4Y1 +3 more	Copy number gain	See cases	GPathogenic
Select item 258964	NM_003140.3(SRY):c.*13A>G	SRY	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1806680	NM_003140.3(SRY):c.603G>A (p.Trp201Ter)	SRY (W201*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1505389	NM_003140.3(SRY):c.589C>A (p.Arg197Ser)	SRY (R197S)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 652674	NM_003140.3(SRY):c.570del (p.Ser191fs)	SRY (S191fs)	Deletion (frameshift variant)	46,XY sex reversal 1	GUncertain significance
Select item 2699642	NM_003140.3(SRY):c.472C>T (p.Gln158Ter)	SRY (Q158*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GUncertain significance
Select item 703672	NM_003140.3(SRY):c.465C>T (p.Ser155=)	SRY	Single nucleotide variant (synonymous variant)	46,XY sex reversal 1 +1 more	GBenign
Select item 9752	NM_003140.3(SRY):c.397C>T (p.Arg133Trp)	SRY (R133W)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 60442	GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2	AMELY, CDY2A +100 more	Copy number gain	See cases	GPathogenic
Select item 470196	NM_003140.3(SRY):c.380A>G (p.Tyr127Cys)	SRY (Y127C)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9756	NM_003140.3(SRY):c.380A>T (p.Tyr127Phe)	SRY (Y127F)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9737	NM_003140.3(SRY):c.364_367del (p.Glu122fs)	SRY (E122fs)	Microsatellite (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 752209	NM_003140.3(SRY):c.346T>C (p.Leu116=)	SRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752210	NM_003140.3(SRY):c.339A>G (p.Ala113=)	SRY	Single nucleotide variant (synonymous variant)	46,XY sex reversal 1	GLikely benign
Select item 9744	NM_003140.3(SRY):c.337G>A (p.Ala113Thr)	SRY (A113T)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 436871	NM_003140.3(SRY):c.331C>T (p.Gln111Ter)	SRY (Q111*)	Single nucleotide variant (nonsense)	46,XX sex reversal 1 +1 more	GPathogenic
Select item 9738	NM_003140.3(SRY):c.326T>C (p.Phe109Ser)	SRY (F109S)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9743	NM_003140.3(SRY):c.324del (p.Phe109fs)	SRY (F109fs)	Deletion (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 1045315	NM_003140.3(SRY):c.321G>T (p.Trp107Cys)	SRY (W107C)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 9745	NM_003140.3(SRY):c.320G>A (p.Trp107Ter)	SRY (W107*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9742	NM_003140.3(SRY):c.317A>T (p.Lys106Ile)	SRY (K106I)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 1338445	NM_003140.3(SRY):c.313G>A (p.Glu105Lys)	SRY (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506477	NM_003140.3(SRY):c.305C>T (p.Thr102Ile)	SRY (T102I)	Single nucleotide variant (missense variant)	46,XX sex reversal 1	GLikely pathogenic
Select item 3040170	NM_003140.3(SRY):c.294G>A (p.Trp98Ter)	SRY (W98*)	Single nucleotide variant (nonsense)	SRY-related disorder	GPathogenic
Select item 537738	NM_003140.3(SRY):c.288C>G (p.Tyr96Ter)	SRY (Y96*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9755	NM_003140.3(SRY):c.284G>A (p.Gly95Glu)	SRY (G95E)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9750	NM_003140.3(SRY):c.283G>C (p.Gly95Arg)	SRY (G95R)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9740	NM_003140.3(SRY):c.277C>T (p.Gln93Ter)	SRY (Q93*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9749	NM_003140.3(SRY):c.274A>T (p.Lys92Ter)	SRY (K92*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 3053582	NM_003140.3(SRY):c.272G>C (p.Ser91Thr)	SRY (S91T)	Single nucleotide variant (missense variant)	SRY-related disorder	GLikely pathogenic
Select item 2842353	NM_003140.3(SRY):c.272G>A (p.Ser91Asn)	SRY (S91N)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 9741	NM_003140.3(SRY):c.270C>G (p.Ile90Met)	SRY (I90M)	Single nucleotide variant (missense variant)	46,XY true hermaphroditism, SRY-related +1 more	GPathogenic
Select item 492907	NM_003140.3(SRY):c.266A>C (p.Glu89Ala)	SRY (E89A)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 470195	NM_003140.3(SRY):c.264dup (p.Glu89fs)	SRY (E89fs)	Duplication (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 2431744	NM_003140.3(SRY):c.263C>G (p.Ser88Ter)	SRY (S88*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GLikely pathogenic
Select item 537739	NM_003140.3(SRY):c.263C>A (p.Ser88Ter)	SRY (S88*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 1369014	NM_003140.3(SRY):c.253A>G (p.Met85Val)	SRY (M85V)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 1411113	NM_003140.3(SRY):c.251G>C (p.Arg84Thr)	SRY (R84T)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 949914	NM_003140.3(SRY):c.248C>A (p.Pro83His)	SRY (P83H)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 393470	NM_003140.3(SRY):c.227G>T (p.Arg76Leu)	SRY (R76L)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GLikely pathogenic
Select item 1490028	NM_003140.3(SRY):c.226C>T (p.Arg76Cys)	SRY (R76C)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GUncertain significance
Select item 1470948	NM_003140.3(SRY):c.212C>A (p.Ser71Tyr)	SRY (S71Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GLikely pathogenic
Select item 9748	NM_003140.3(SRY):c.209G>A (p.Trp70Ter)	SRY (W70*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 9746	NM_003140.3(SRY):c.203T>C (p.Ile68Thr)	SRY (I68T)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 1177296	NM_003140.3(SRY):c.196G>C (p.Ala66Pro)	SRY (A66P)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GLikely pathogenic
Select item 9747	NM_003140.3(SRY):c.192G>A (p.Met64Ile)	SRY (M64I)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9739	NM_003140.3(SRY):c.178G>C (p.Val60Leu)	SRY (V60L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2693711	NM_003140.3(SRY):c.174_175insC (p.Arg59fs)	SRY (R59fs)	Insertion (frameshift variant)	46,XY sex reversal 1	GPathogenic
Select item 664404	NM_003140.3(SRY):c.169C>T (p.Gln57Ter)	SRY (Q57*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 2829588	NM_003140.3(SRY):c.145G>T (p.Gly49Ter)	SRY (G49*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 492908	NM_003140.3(SRY):c.89G>T (p.Arg30Ile)	SRY (R30I)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 9754	NM_003140.3(SRY):c.53G>A (p.Ser18Asn)	SRY (S18N)	Single nucleotide variant (missense variant)	46,XY sex reversal 1	GPathogenic
Select item 3031667	NM_003140.3(SRY):c.28A>G (p.Ser10Gly)	SRY (S10G)	Single nucleotide variant (missense variant)	SRY-related disorder	GUncertain significance
Select item 9751	NM_003140.3(SRY):c.12T>A (p.Tyr4Ter)	SRY (Y4*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 1337639	NM_003140.3(SRY):c.11A>G (p.Tyr4Cys)	SRY (Y4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 9753	NM_003140.3(SRY):c.4C>T (p.Gln2Ter)	SRY (Q2*)	Single nucleotide variant (nonsense)	46,XY sex reversal 1	GPathogenic
Select item 1433108	NC_000024.10:g.2787734C>T	LOC108178989, SRY	Single nucleotide variant	46,XY sex reversal 1	GUncertain significance
Select item 3148873	GRCh37/hg19 Yp11.31-q11.222(chrY:2650425-20609790)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 2685199	GRCh37/hg19 Yp11.31-11.2(chrY:2650141-6312530)x0	FAM197Y9, PCDH11Y +9 more	Copy number loss	not provided	GPathogenic
Select item 2424632	NC_000024.9:g.(?_2654792)_(2655895_?)dup	SRY	Duplication	46,XY sex reversal 1	GUncertain significance
Select item 1708270	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1	AMELY, FAM197Y1P +32 more	Copy number loss	Klinefelter syndrome	GPathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	NLGN4Y, PCDH11Y +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703656	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7114097)	AMELY, FAM197Y9 +13 more	Copy number gain	46,XX sex reversal 1	GPathogenic
Select item 1676302	GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654)	NLGN4Y, PCDH11Y +81 more	Copy number loss	not provided	GPathogenic
Select item 1339966	GRCh37/hg19 Yp11.31(chrY:2650140-2691749)x0	SRY	Copy number loss	not provided	GPathogenic
Select item 1048614	GRCh37/hg19 Yp11.32-11.2(chrY:10701-5080415)x2	PCDH11Y, RPS4Y1 +3 more	Copy number gain	See cases	GPathogenic
Select item 979250	GRCh37/hg19 Yp11.32-11.31(chrY:1873925-2800880)x2	SRY, RPS4Y1	Copy number gain	not provided	GUncertain significance
Select item 870524	GRCh37/hg19 Yp11.31(chrY:2650140-2777517)x1	RPS4Y1, SRY	Copy number gain	Sex reversal	GPathogenic
Select item 870523	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1	FAM197Y9, PCDH11Y +11 more	Copy number gain	Sex reversal	GPathogenic
Select item 870517	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7019586)x1	AMELY, FAM197Y9 +13 more	Copy number gain	Sex reversal	GPathogenic
Select item 870516	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6172892)x1	FAM197Y9, PCDH11Y +6 more	Copy number gain	Sex reversal	GPathogenic
Select item 816423	GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2	FAM197Y9, HSFY1 +81 more	Copy number gain	not provided	GPathogenic
Select item 816422	GRCh37/hg19 Yp11.32-q11.221(chrY:1-16095773)x2	AMELY, DDX3Y +38 more	Copy number gain	not provided	GPathogenic
Select item 686903	GRCh37/hg19 Yp11.32-q11.221(chrY:201704-15182563)x2	AMELY, DDX3Y +36 more	Copy number gain	not provided	GPathogenic
Select item 686297	GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 685272	GRCh37/hg19 Yp11.32-q11.222(chrY:118546-20603124)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 625648	GRCh37/hg19 Yp11.32-q11.221(chrY:1640371-19565713)	AMELY, DDX3Y +41 more	Copy number gain	not provided	GPathogenic
Select item 625647	GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713)	AMELY, DDX3Y +41 more	Copy number gain	not provided	GPathogenic
Select item 625646	GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033)	DDX3Y, CDY2A +62 more	Copy number gain	not provided	GPathogenic
Select item 564969	GRCh37/hg19 Yp11.31-q11.223(chrY:2650140-24070172)x2	AMELY, CDY2A +58 more	Copy number gain	not provided	GPathogenic
Select item 564968	GRCh37/hg19 Yp11.32-q11.1(chrY:168807-13134517)x1,2	AMELY, FAM197Y1P +33 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2