"Ambry Genetics"[submitter] AND "SLC9C1"[gene] - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42