ClinVar for MedGen (Select 1780531) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065639	NM_003049.4(SLC10A1):c.71A>C (p.Asp24Ala)	SLC10A1 (D24A)	Single nucleotide variant (missense variant)	Hypercholanemia, familial, 2	GUncertain significance
Select item 2634835	NM_003049.4(SLC10A1):c.102GTT[1] (p.Leu35del)	SLC10A1 (L35del)	Microsatellite (inframe_deletion)	SLC10A1-related disorder +1 more	GUncertain significance
Select item 2444366	NM_003049.4(SLC10A1):c.806T>G (p.Ile269Ser)	SLC10A1 (I269S)	Single nucleotide variant (missense variant)	Hypercholanemia, familial, 2	GUncertain significance
Select item 2435962	NM_003049.4(SLC10A1):c.603C>T (p.Ala201=)	SLC10A1	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial, 2	GUncertain significance
Select item 1705419	NM_003049.4(SLC10A1):c.713_717del (p.Tyr238fs)	SLC10A1 (Y238fs)	Deletion (frameshift variant)	Hypercholanemia, familial, 2	GLikely pathogenic
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 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 594061	NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu)	SLC10A1 (V187L)	Single nucleotide variant (missense variant)	not specified +2 more	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 501461	NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)	SLC10A1 (S267F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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