"Ambry Genetics"[submitter] AND "TSPAN11"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478805	NM_001370302.1(TSPAN11):c.80T>C (p.Phe27Ser)	TSPAN11 (F27S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496102	NM_001370302.1(TSPAN11):c.256C>T (p.Arg86Trp)	TSPAN11 (R76W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545938	NM_001370302.1(TSPAN11):c.257G>A (p.Arg86Gln)	TSPAN11 (R86Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2482659	NM_001370302.1(TSPAN11):c.312G>C (p.Glu104Asp)	TSPAN11 (E104D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391404	NM_001370302.1(TSPAN11):c.412G>A (p.Gly138Arg)	TSPAN11 (G128R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2284802	NM_001370302.1(TSPAN11):c.469G>A (p.Gly157Arg)	TSPAN11 (G147R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468589	NM_001370302.1(TSPAN11):c.518G>A (p.Arg173Gln)	TSPAN11 (R163Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368395	NM_001370302.1(TSPAN11):c.523G>A (p.Ala175Thr)	TSPAN11 (A175T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240476	NM_001370302.1(TSPAN11):c.556A>G (p.Lys186Glu)	TSPAN11 (K186E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462952	NM_001370302.1(TSPAN11):c.652G>A (p.Asp218Asn)	TSPAN11 (D208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance