ClinVar for MedGen (Select 1794144) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705528	NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)	SLC10A2 (C106*)	Single nucleotide variant (nonsense)	Bile acid malabsorption, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1705368	NM_000452.3(SLC10A2):c.752C>T (p.Pro251Leu)	SLC10A2 (P251L)	Single nucleotide variant (missense variant)	Bile acid malabsorption, primary, 1 +1 more	GUncertain significance
Select item 1332971	NM_000452.3(SLC10A2):c.761+28A>G	SLC10A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1332970	NM_000452.3(SLC10A2):c.920-20G>A	SLC10A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1030808	NM_000452.3(SLC10A2):c.398C>G (p.Ser133Cys)	SLC10A2 (S133C)	Single nucleotide variant (missense variant)	Bile acid malabsorption, primary, 1 +1 more	GUncertain significance
Select item 1030807	NM_000452.3(SLC10A2):c.313T>C (p.Cys105Arg)	SLC10A2 (C105R)	Single nucleotide variant (missense variant)	Bile acid malabsorption, primary, 1 +1 more	GUncertain significance
Select item 872454	NM_000452.3(SLC10A2):c.197G>A (p.Trp66Ter)	SLC10A2 (W66*)	Single nucleotide variant (nonsense)	Bile acid malabsorption, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 598413	NM_000452.3(SLC10A2):c.389C>T (p.Thr130Ile)	SLC10A2 (T130I)	Single nucleotide variant (missense variant)	Bile acid malabsorption, primary, 1 +2 more	GUncertain significance
Select item 501874	NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)	SLC10A2 (L44F)	Single nucleotide variant (missense variant)	Bile acid malabsorption, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 501421	NM_000452.3(SLC10A2):c.230G>A (p.Gly77Glu)	SLC10A2 (G77E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500243	NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)	SLC10A2 (F304L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242727	NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)	SLC10A2 (T262M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8242	NM_000452.3(SLC10A2):c.584_585+1inv	SLC10A2	Inversion (splice donor variant)	Bile acid malabsorption, primary, 1	GPathogenic
Select item 8241	NM_000452.2(SLC10A2):c.[728T>C;785C>T]	SLC10A2 (T262M +1 more)	Single nucleotide variant (missense variant)	Bile acid malabsorption, primary, 1	GPathogenic