"Ambry Genetics"[submitter] AND "SLC27A2"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2530698	NM_003645.4(SLC27A2):c.152C>T (p.Pro51Leu)	SLC27A2 (P51L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333125	NM_003645.4(SLC27A2):c.177C>G (p.Phe59Leu)	SLC27A2 (F59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249208	NM_003645.4(SLC27A2):c.263G>A (p.Ser88Asn)	SLC27A2 (S88N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465888	NM_003645.4(SLC27A2):c.280G>A (p.Ala94Thr)	SLC27A2, LOC130057037 (A94T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280975	NM_003645.4(SLC27A2):c.295C>G (p.Leu99Val)	LOC130057037, SLC27A2 (L99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512460	NM_003645.4(SLC27A2):c.357G>T (p.Trp119Cys)	LOC130057037, SLC27A2 (W119C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464007	NM_003645.4(SLC27A2):c.445T>A (p.Cys149Ser)	SLC27A2 (C149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479989	NM_003645.4(SLC27A2):c.581T>C (p.Phe194Ser)	SLC27A2 (F194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316464	NM_003645.4(SLC27A2):c.613C>G (p.Pro205Ala)	SLC27A2 (P205A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284240	NM_003645.4(SLC27A2):c.706A>G (p.Met236Val)	SLC27A2 (M236V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2617309	NM_003645.4(SLC27A2):c.728G>T (p.Trp243Leu)	SLC27A2 (W243L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246826	NM_003645.4(SLC27A2):c.746C>T (p.Thr249Ile)	SLC27A2 (T249I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220355	NM_003645.4(SLC27A2):c.757G>A (p.Gly253Arg)	SLC27A2 (G253R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595163	NM_003645.4(SLC27A2):c.808G>A (p.Ala270Thr)	SLC27A2 (A270T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388579	NM_003645.4(SLC27A2):c.838A>G (p.Ile280Val)	SLC27A2 (I280V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512664	NM_003645.4(SLC27A2):c.839T>C (p.Ile280Thr)	SLC27A2 (I280T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548566	NM_003645.4(SLC27A2):c.865C>T (p.Arg289Trp)	SLC27A2 (R236W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526873	NM_003645.4(SLC27A2):c.930G>T (p.Gln310His)	SLC27A2 (Q310H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343533	NM_003645.4(SLC27A2):c.1124C>T (p.Ala375Val)	SLC27A2 (A375V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219464	NM_003645.4(SLC27A2):c.1139C>T (p.Ala380Val)	SLC27A2 (A380V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609411	NM_003645.4(SLC27A2):c.1210G>A (p.Asp404Asn)	SLC27A2 (D351N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272085	NM_003645.4(SLC27A2):c.1223G>C (p.Arg408Pro)	SLC27A2 (R355P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222290	NM_003645.4(SLC27A2):c.1379A>G (p.Tyr460Cys)	SLC27A2 (Y460C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237592	NM_003645.4(SLC27A2):c.1508T>C (p.Leu503Pro)	SLC27A2 (L450P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461606	NM_003645.4(SLC27A2):c.1670G>A (p.Arg557Gln)	SLC27A2 (R504Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474684	NM_003645.4(SLC27A2):c.1700T>A (p.Ile567Asn)	SLC27A2 (I514N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569671	NM_003645.4(SLC27A2):c.1720C>T (p.Arg574Cys)	SLC27A2 (R521C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543867	NM_003645.4(SLC27A2):c.1724A>G (p.Lys575Arg)	SLC27A2 (K575R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 28