SLC9C1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 2620334	NM_183061.3(SLC9C1):c.3512T>C (p.Leu1171Pro)	SLC9C1 (L1123P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209745	NM_183061.3(SLC9C1):c.3436G>A (p.Ala1146Thr)	SLC9C1 (A1146T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249138	NM_183061.3(SLC9C1):c.3422G>A (p.Gly1141Glu)	SLC9C1 (G1141E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769278	NM_183061.3(SLC9C1):c.3365-20dup	SLC9C1	Duplication (intron variant)	not provided	GBenign
Select item 2531923	NM_183061.3(SLC9C1):c.3336T>A (p.His1112Gln)	SLC9C1 (H1112Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512403	NM_183061.3(SLC9C1):c.3284C>T (p.Pro1095Leu)	SLC9C1 (P1095L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	ATG3, ATP6V1A +126 more	Copy number loss	See cases	GPathogenic
Select item 2462005	NM_183061.3(SLC9C1):c.3225A>G (p.Ile1075Met)	SLC9C1 (I1027M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290376	NM_183061.3(SLC9C1):c.3203G>C (p.Arg1068Thr)	SLC9C1 (R1068T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598397	NM_183061.3(SLC9C1):c.3185T>C (p.Leu1062Pro)	SLC9C1 (L1062P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605136	NM_183061.3(SLC9C1):c.3160A>C (p.Ile1054Leu)	SLC9C1 (I1006L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206975	NM_183061.3(SLC9C1):c.3043T>C (p.Ser1015Pro)	SLC9C1 (S1015P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 771856	NM_183061.3(SLC9C1):c.2965T>C (p.Cys989Arg)	SLC9C1 (C941R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 774845	NM_183061.3(SLC9C1):c.2958T>A (p.Phe986Leu)	SLC9C1 (F938L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2405051	NM_183061.3(SLC9C1):c.2890T>G (p.Tyr964Asp)	SLC9C1 (Y916D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405431	NM_183061.3(SLC9C1):c.2778T>G (p.Ile926Met)	SLC9C1 (I878M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589153	NM_183061.3(SLC9C1):c.2410A>G (p.Thr804Ala)	SLC9C1 (T756A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787585	NM_183061.3(SLC9C1):c.2310A>G (p.Lys770=)	SLC9C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2387251	NM_183061.3(SLC9C1):c.2161C>T (p.Arg721Cys)	SLC9C1 (R673C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381218	NM_183061.3(SLC9C1):c.2153G>A (p.Arg718His)	SLC9C1 (R670H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358055	NM_183061.3(SLC9C1):c.2017C>A (p.His673Asn)	SLC9C1 (H625N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244788	NM_183061.3(SLC9C1):c.1896G>T (p.Trp632Cys)	SLC9C1 (W584C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374251	NM_183061.3(SLC9C1):c.1805G>A (p.Arg602His)	SLC9C1 (R602H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2336926	NM_183061.3(SLC9C1):c.1780G>C (p.Gly594Arg)	SLC9C1 (G546R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605774	NM_183061.3(SLC9C1):c.1753G>T (p.Val585Leu)	SLC9C1 (V585L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236918	NM_183061.3(SLC9C1):c.1742T>A (p.Leu581Gln)	SLC9C1 (L581Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381927	NM_183061.3(SLC9C1):c.1671A>T (p.Lys557Asn)	SLC9C1 (K509N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525062	NM_183061.3(SLC9C1):c.1616G>A (p.Ser539Asn)	SLC9C1 (S491N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526632	NM_183061.3(SLC9C1):c.1548C>A (p.Asn516Lys)	SLC9C1 (N468K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354286	NM_183061.3(SLC9C1):c.1526C>G (p.Thr509Ser)	SLC9C1 (T509S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404502	NM_183061.3(SLC9C1):c.1525A>G (p.Thr509Ala)	SLC9C1 (T509A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526567	NM_183061.3(SLC9C1):c.1336T>C (p.Phe446Leu)	SLC9C1 (F446L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269137	NM_183061.3(SLC9C1):c.1324A>G (p.Thr442Ala)	SLC9C1 (T442A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276454	NM_183061.3(SLC9C1):c.1311A>C (p.Lys437Asn)	SLC9C1 (K437N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457134	NM_183061.3(SLC9C1):c.1286G>A (p.Arg429His)	SLC9C1 (R381H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610028	NM_183061.3(SLC9C1):c.1196A>G (p.Gln399Arg)	SLC9C1 (Q351R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604256	NM_183061.3(SLC9C1):c.1091T>C (p.Ile364Thr)	SLC9C1 (I316T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024744	NM_183061.3(SLC9C1):c.1080T>C (p.Ser360=)	SLC9C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609224	NM_183061.3(SLC9C1):c.982T>C (p.Tyr328His)	SLC9C1 (Y328H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241019	NM_183061.3(SLC9C1):c.764T>G (p.Ile255Ser)	SLC9C1 (I255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527571	NM_183061.3(SLC9C1):c.650T>C (p.Ile217Thr)	SLC9C1 (I217T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770888	NM_183061.3(SLC9C1):c.608C>T (p.Thr203Ile)	SLC9C1 (T203I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2398856	NM_183061.3(SLC9C1):c.599G>T (p.Arg200Ile)	SLC9C1 (R200I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299646	NM_183061.3(SLC9C1):c.584G>A (p.Arg195Lys)	SLC9C1 (R195K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297491	NM_183061.3(SLC9C1):c.518G>C (p.Gly173Ala)	SLC9C1 (G173A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243125	NM_183061.3(SLC9C1):c.349G>C (p.Val117Leu)	SLC9C1 (V117L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519697	NM_183061.3(SLC9C1):c.241C>T (p.Arg81Cys)	SLC9C1 (R81C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2313607	NM_183061.3(SLC9C1):c.148C>T (p.Leu50Phe)	SLC9C1 (L50F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470161	NM_183061.3(SLC9C1):c.121A>G (p.Ile41Val)	SLC9C1 (I41V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685929	GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3	ATG3, BTLA +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1809017	GRCh37/hg19 3q13.2(chr3:111919475-112389338)x3	ATG3, BTLA +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 686372	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 686136	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 71