"Eurofins Ntd Llc (ga)"[submitter] AND "SLC10A1"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594294	NM_003049.4(SLC10A1):c.1030T>A (p.Cys344Ser)	SLC10A1 (C344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597414	NM_003049.4(SLC10A1):c.1024G>A (p.Glu342Lys)	SLC10A1 (E342K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593911	NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)	SLC10A1 (G332R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500558	NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile)	SLC10A1 (M319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597939	NM_003049.4(SLC10A1):c.936T>G (p.Thr312=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501705	NM_003049.4(SLC10A1):c.907A>G (p.Ile303Val)	SLC10A1 (I303V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595899	NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu)	SLC10A1 (Q293E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502752	NM_003049.4(SLC10A1):c.870G>A (p.Met290Ile)	SLC10A1 (M290I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595331	NM_003049.4(SLC10A1):c.869T>G (p.Met290Arg)	SLC10A1 (M290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501711	NM_003049.4(SLC10A1):c.868A>G (p.Met290Val)	SLC10A1 (M290V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597069	NM_003049.4(SLC10A1):c.846T>C (p.Leu282=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595170	NM_003049.4(SLC10A1):c.839G>T (p.Gly280Val)	SLC10A1 (G280V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501470	NM_003049.4(SLC10A1):c.836T>C (p.Ile279Thr)	SLC10A1 (I279T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594512	NM_003049.4(SLC10A1):c.821T>C (p.Phe274Ser)	SLC10A1 (F274S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597593	NM_003049.4(SLC10A1):c.812A>G (p.Asn271Ser)	SLC10A1 (N271S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501461	NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)	SLC10A1 (S267F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 598182	NM_003049.4(SLC10A1):c.778T>C (p.Cys260Arg)	SLC10A1 (C260R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597843	NM_003049.4(SLC10A1):c.767T>G (p.Met256Arg)	SLC10A1 (M256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501945	NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	SLC10A1 (R252H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 501707	NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)	SLC10A1 (R252S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 501465	NM_003049.4(SLC10A1):c.746+5del	SLC10A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 598599	NM_003049.4(SLC10A1):c.746G>A (p.Arg249Gln)	SLC10A1 (R249Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500594	NM_003049.4(SLC10A1):c.745C>T (p.Arg249Trp)	SLC10A1 (R249W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501077	NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)	SLC10A1 (F234L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502734	NM_003049.4(SLC10A1):c.664_665del (p.Leu222fs)	SLC10A1 (L222fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 500563	NM_003049.4(SLC10A1):c.630G>A (p.Val210=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594286	NM_003049.4(SLC10A1):c.608_609del (p.Thr203fs)	SLC10A1 (T203fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 598171	NM_003049.4(SLC10A1):c.604G>A (p.Val202Ile)	SLC10A1 (V202I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593564	NM_003049.4(SLC10A1):c.599T>A (p.Val200Glu)	SLC10A1 (V200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500648	NM_003049.4(SLC10A1):c.589T>C (p.Leu197=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 596344	NM_003049.4(SLC10A1):c.587T>C (p.Leu196Pro)	SLC10A1 (L196P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593428	NM_003049.4(SLC10A1):c.583A>C (p.Ile195Leu)	SLC10A1 (I195L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500856	NM_003049.4(SLC10A1):c.575T>G (p.Met192Arg)	SLC10A1 (M192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596943	NM_003049.4(SLC10A1):c.573G>C (p.Gly191=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594061	NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu)	SLC10A1 (V187L)	Single nucleotide variant (missense variant)	Hypercholanemia, familial, 2 +2 more	GUncertain significance
Select item 598098	NM_003049.4(SLC10A1):c.553C>T (p.Arg185Cys)	SLC10A1 (R185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597704	NM_003049.4(SLC10A1):c.541C>A (p.Pro181Thr)	SLC10A1 (P181T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502770	NM_003049.4(SLC10A1):c.518G>C (p.Gly173Ala)	SLC10A1 (G173A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502018	NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)	SLC10A1 (G173R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597153	NM_003049.4(SLC10A1):c.515T>C (p.Ile172Thr)	SLC10A1 (I172T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 597926	NM_003049.4(SLC10A1):c.512C>T (p.Thr171Ile)	SLC10A1 (T171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597846	NM_003049.4(SLC10A1):c.506C>T (p.Pro169Leu)	SLC10A1 (P169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595386	NM_003049.4(SLC10A1):c.503T>C (p.Ile168Thr)	SLC10A1 (I168T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501327	NM_003049.4(SLC10A1):c.481A>T (p.Ile161Leu)	SLC10A1 (I161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597978	NM_003049.4(SLC10A1):c.473G>A (p.Gly158Asp)	SLC10A1 (G158D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595141	NM_003049.4(SLC10A1):c.472G>A (p.Gly158Ser)	SLC10A1 (G158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593674	NM_003049.4(SLC10A1):c.453G>A (p.Lys151=)	SLC10A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 501359	NM_003049.4(SLC10A1):c.437A>G (p.Tyr146Cys)	SLC10A1 (Y146C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597591	NM_003049.4(SLC10A1):c.432G>A (p.Gly144=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 593998	NM_003049.4(SLC10A1):c.393T>G (p.Leu131=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500746	NM_003049.4(SLC10A1):c.359T>C (p.Ile120Thr)	SLC10A1 (I120T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597482	NM_003049.4(SLC10A1):c.343G>T (p.Asp115Tyr)	SLC10A1 (D115Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502769	NM_003049.4(SLC10A1):c.343G>A (p.Asp115Asn)	SLC10A1 (D115N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502767	NM_003049.4(SLC10A1):c.340G>A (p.Gly114Arg)	SLC10A1 (G114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595272	NM_003049.4(SLC10A1):c.296C>T (p.Ser99Leu)	SLC10A1 (S99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501466	NM_003049.4(SLC10A1):c.293G>A (p.Cys98Tyr)	SLC10A1 (C98Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598530	NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr)	SLC10A1 (I88T)	Single nucleotide variant (missense variant)	Hypercholanemia, familial, 2 +1 more	GLikely benign
Select item 500632	NM_003049.4(SLC10A1):c.189C>T (p.Ile63=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 593345	NM_003049.4(SLC10A1):c.178G>A (p.Gly60Arg)	SLC10A1 (G60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598016	NM_003049.4(SLC10A1):c.147C>T (p.Ser49=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595168	NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter)	SLC10A1 (C44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 597217	NM_003049.4(SLC10A1):c.122C>T (p.Ser41Leu)	SLC10A1 (S41L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594674	NM_003049.4(SLC10A1):c.109T>C (p.Phe37Leu)	SLC10A1 (F37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594009	NM_003049.4(SLC10A1):c.106T>C (p.Phe36Leu)	SLC10A1 (F36L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500821	NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter)	SLC10A1 (L35*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502037	NM_003049.4(SLC10A1):c.85G>A (p.Val29Ile)	SLC10A1 (V29I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594132	NM_003049.4(SLC10A1):c.84C>T (p.Ser28=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595651	NM_003049.4(SLC10A1):c.61C>T (p.Arg21Cys)	SLC10A1 (R21C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594495	NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs)	SLC10A1 (F12fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 594875	NM_003049.4(SLC10A1):c.16G>A (p.Ala6Thr)	SLC10A1 (A6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 70