"Ambry Genetics"[submitter] AND "SLC7A11"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2589606	NM_014331.4(SLC7A11):c.1388C>T (p.Ala463Val)	SLC7A11 (A463V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348878	NM_014331.4(SLC7A11):c.1366A>C (p.Ile456Leu)	SLC7A11 (I456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527969	NM_014331.4(SLC7A11):c.1363G>A (p.Val455Ile)	SLC7A11 (V455I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514069	NM_014331.4(SLC7A11):c.1319C>T (p.Ala440Val)	SLC7A11 (A440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344149	NM_014331.4(SLC7A11):c.1232G>A (p.Arg411Gln)	SLC7A11 (R411Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529713	NM_014331.4(SLC7A11):c.1192C>T (p.Leu398Phe)	SLC7A11 (L398F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319743	NM_014331.4(SLC7A11):c.1105G>A (p.Val369Ile)	SLC7A11 (V369I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233836	NM_014331.4(SLC7A11):c.1063C>T (p.Leu355Phe)	SLC7A11 (L355F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247235	NM_014331.4(SLC7A11):c.956T>C (p.Val319Ala)	SLC7A11 (V319A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520919	NM_014331.4(SLC7A11):c.869C>T (p.Thr290Met)	SLC7A11 (T290M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611038	NM_014331.4(SLC7A11):c.835A>G (p.Ile279Val)	SLC7A11 (I279V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220405	NM_014331.4(SLC7A11):c.665A>G (p.Lys222Arg)	SLC7A11 (K222R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623167	NM_014331.4(SLC7A11):c.502A>G (p.Ile168Val)	SLC7A11 (I168V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400643	NM_014331.4(SLC7A11):c.487C>T (p.Leu163Phe)	SLC7A11 (L163F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543599	NM_014331.4(SLC7A11):c.460T>C (p.Phe154Leu)	SLC7A11 (F154L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385880	NM_014331.4(SLC7A11):c.443G>A (p.Arg148His)	SLC7A11 (R148H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616263	NM_014331.4(SLC7A11):c.403C>G (p.Arg135Gly)	SLC7A11 (R135G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308138	NM_014331.4(SLC7A11):c.397A>G (p.Ile133Val)	SLC7A11 (I133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540032	NM_014331.4(SLC7A11):c.385G>A (p.Val129Met)	SLC7A11 (V129M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411477	NM_014331.4(SLC7A11):c.373G>C (p.Val125Leu)	SLC7A11 (V125L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350615	NM_014331.4(SLC7A11):c.355G>T (p.Gly119Cys)	SLC7A11 (G119C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462757	NM_014331.4(SLC7A11):c.173T>C (p.Ile58Thr)	LOC126807163, SLC7A11 (I58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312638	NM_014331.4(SLC7A11):c.110A>C (p.Lys37Thr)	LOC126807163, SLC7A11 (K37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225536	NM_014331.4(SLC7A11):c.94C>A (p.Pro32Thr)	LOC126807163, SLC7A11 (P32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311348	NM_014331.4(SLC7A11):c.56A>G (p.Asn19Ser)	LOC126807163, SLC7A11 (N19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25