ClinVar for Gene (Select 6456) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318088	NM_003026.5(SH3GL2):c.697C>A (p.Leu233Met)	SH3GL2 (L233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318087	NM_003026.5(SH3GL2):c.409C>G (p.Gln137Glu)	SH3GL2 (Q137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318086	NM_003026.5(SH3GL2):c.130A>G (p.Ser44Gly)	SH3GL2 (S44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161313	NM_003026.5(SH3GL2):c.836A>T (p.His279Leu)	SH3GL2 (H279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161312	NM_003026.5(SH3GL2):c.619A>G (p.Met207Val)	SH3GL2 (M207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161311	NM_003026.5(SH3GL2):c.610C>T (p.Leu204Phe)	SH3GL2 (L204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161310	NM_003026.5(SH3GL2):c.416T>G (p.Phe139Cys)	SH3GL2 (F139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161309	NM_003026.5(SH3GL2):c.379G>C (p.Val127Leu)	SH3GL2 (V127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685342	GRCh37/hg19 9p22.2-22.1(chr9:16814127-19131921)x1	ADAMTSL1, BNC2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2619209	NM_003026.5(SH3GL2):c.959C>G (p.Thr320Ser)	SH3GL2 (T320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614644	NM_003026.5(SH3GL2):c.830T>C (p.Leu277Pro)	SH3GL2 (L277P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554269	NM_003026.5(SH3GL2):c.833C>A (p.Ser278Tyr)	SH3GL2 (S278Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533409	NM_003026.5(SH3GL2):c.564G>C (p.Glu188Asp)	SH3GL2 (E188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526189	NM_003026.5(SH3GL2):c.125T>C (p.Val42Ala)	SH3GL2 (V42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475626	NM_003026.5(SH3GL2):c.851A>G (p.Lys284Arg)	SH3GL2 (K284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404538	NM_003026.5(SH3GL2):c.790G>C (p.Glu264Gln)	SH3GL2 (E264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398580	NM_003026.5(SH3GL2):c.551G>A (p.Arg184His)	SH3GL2 (R184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379725	NM_003026.5(SH3GL2):c.364C>T (p.Arg122Trp)	SH3GL2 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371059	NM_003026.5(SH3GL2):c.833C>T (p.Ser278Phe)	SH3GL2 (S278F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314989	NM_003026.5(SH3GL2):c.991A>G (p.Met331Val)	SH3GL2 (M331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291493	NM_003026.5(SH3GL2):c.334C>T (p.Pro112Ser)	SH3GL2 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269969	NM_003026.5(SH3GL2):c.178C>G (p.Pro60Ala)	SH3GL2 (P60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206557	NM_003026.5(SH3GL2):c.710C>T (p.Thr237Met)	SH3GL2 (T237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808046	GRCh37/hg19 9p22.3-21.3(chr9:15328600-20821644)x3	ACER2, ADAMTSL1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527509	GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960)	ADAMTSL1, BNC2 +20 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	PTPRD, PUM3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	TTC39B, TYRP1 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 980893	GRCh37/hg19 9p22.2(chr9:17165697-17708155)x3	CNTLN, SH3GL2	Copy number gain	not provided	GLikely benign
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	not provided	GPathogenic
Select item 708102	NM_003026.5(SH3GL2):c.237C>T (p.Gly79=)	SH3GL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	CCDC171, ACER2 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	ZDHHC21, ACER2 +61 more	Copy number gain	not provided	GPathogenic
Select item 563658	GRCh37/hg19 9p22.2(chr9:16728616-17602939)x3	BNC2, SH3GL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563614	GRCh37/hg19 9p22.2(chr9:17600135-17842094)x1	SH3GL2	Copy number loss	not provided	GUncertain significance
Select item 562132	GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1	NFIB, PSIP1 +9 more	Copy number loss	Oxycephaly +1 more	GPathogenic
Select item 562131	GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1	CCDC171, CER1 +10 more	Copy number loss	Turricephaly +1 more	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442304	GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1	AK3, BNC2 +51 more	Copy number loss	See cases	GPathogenic
Select item 442255	GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3	ACER2, ADAMTSL1 +46 more	Copy number gain	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 441536	GRCh37/hg19 9p22.2(chr9:17788590-17999378)x1	SH3GL2	Copy number loss	See cases	GLikely benign
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC130001652, LOC130001653 +581 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 147568	GRCh38/hg38 9p22.2-22.1(chr9:17502887-18681091)x3	ADAMTSL1, CNTLN +6 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic

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