"Ambry Genetics"[submitter] AND "SH2D6"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2510500	NM_001394463.1(SH2D6):c.590-87C>T	SH2D6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2333634	NM_001394463.1(SH2D6):c.590-51C>T	SH2D6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2492331	NM_001394463.1(SH2D6):c.649G>A (p.Asp217Asn)	SH2D6 (D217N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372499	NM_001394463.1(SH2D6):c.752G>A (p.Arg251His)	SH2D6 (R59H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277128	NM_001394463.1(SH2D6):c.781C>T (p.Pro261Ser)	SH2D6 (P261S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594954	NM_001394463.1(SH2D6):c.851G>A (p.Arg284His)	SH2D6 (R284H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2215622	NM_001394463.1(SH2D6):c.869G>A (p.Arg290Gln)	SH2D6 (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490017	NM_001394463.1(SH2D6):c.884G>A (p.Arg295His)	SH2D6 (R295H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2484592	NM_001394463.1(SH2D6):c.889G>A (p.Glu297Lys)	SH2D6 (E297K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335292	NM_001394463.1(SH2D6):c.964G>A (p.Gly322Ser)	SH2D6 (G130S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance