SOAT1[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228061	NM_003101.6(SOAT1):c.18G>T (p.Lys6Asn)	SOAT1 (K6N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2363581	NM_003101.6(SOAT1):c.25C>G (p.Leu9Val)	SOAT1 (L9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268488	NM_003101.6(SOAT1):c.85C>T (p.Pro29Ser)	SOAT1 (P29S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167363	NM_003101.6(SOAT1):c.97T>A (p.Ser33Thr)	SOAT1 (S33T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 746440	NM_003101.6(SOAT1):c.105G>A (p.Glu35=)	SOAT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3167359	NM_003101.6(SOAT1):c.155T>C (p.Ile52Thr)	SOAT1 (I52T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167360	NM_003101.6(SOAT1):c.311A>G (p.Lys104Arg)	SOAT1 (K104R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245647	NM_003101.6(SOAT1):c.352C>A (p.Gln118Lys)	SOAT1 (Q53K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478453	NM_003101.6(SOAT1):c.479A>G (p.Asp160Gly)	SOAT1 (D102G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410770	NM_003101.6(SOAT1):c.550G>A (p.Val184Ile)	SOAT1 (V119I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319838	NM_003101.6(SOAT1):c.556T>G (p.Trp186Gly)	SOAT1 (W128G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767731	NM_003101.6(SOAT1):c.579G>A (p.Leu193=)	SOAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2222740	NM_003101.6(SOAT1):c.581C>G (p.Ser194Cys)	SOAT1 (S194C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780280	NM_003101.6(SOAT1):c.610C>G (p.Gln204Glu)	SOAT1 (Q146E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767732	NM_003101.6(SOAT1):c.648G>A (p.Pro216=)	SOAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3167361	NM_003101.6(SOAT1):c.655C>T (p.Arg219Cys)	SOAT1 (R154C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483477	NM_003101.6(SOAT1):c.794T>C (p.Met265Thr)	SOAT1 (M265T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167362	NM_003101.6(SOAT1):c.836T>C (p.Leu279Pro)	SOAT1 (L214P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773819	NM_003101.6(SOAT1):c.855A>G (p.Lys285=)	SOAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2215259	NM_003101.6(SOAT1):c.857C>T (p.Ser286Leu)	SOAT1 (S228L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495282	NM_003101.6(SOAT1):c.877A>G (p.Thr293Ala)	SOAT1 (T235A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352899	NM_003101.6(SOAT1):c.973A>G (p.Met325Val)	SOAT1 (M260V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530983	NM_003101.6(SOAT1):c.1029G>C (p.Arg343Ser)	SOAT1 (R285S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167356	NM_003101.6(SOAT1):c.1124T>C (p.Leu375Pro)	SOAT1 (L317P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213345	NM_003101.6(SOAT1):c.1181A>T (p.Glu394Val)	SOAT1 (E329V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254793	NM_003101.6(SOAT1):c.1249T>G (p.Tyr417Asp)	SOAT1 (Y417D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167357	NM_003101.6(SOAT1):c.1366T>C (p.Ser456Pro)	SOAT1 (S391P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167358	NM_003101.6(SOAT1):c.1372G>A (p.Val458Ile)	SOAT1 (V400I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519601	NM_003101.6(SOAT1):c.1640G>A (p.Arg547His)	SOAT1 (R489H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611085	NM_003101.6(SOAT1):c.1645G>A (p.Val549Met)	SOAT1 (V484M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 30