"Ambry Genetics"[submitter] AND "IST1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2411826	NM_001270975.2(IST1):c.355A>G (p.Ile119Val)	IST1 (I132V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542358	NM_001270975.2(IST1):c.568G>C (p.Gly190Arg)	IST1 (G190R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521238	NM_001270975.2(IST1):c.625C>T (p.Pro209Ser)	IST1 (P222S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551784	NM_001270975.2(IST1):c.784G>C (p.Gly262Arg)	IST1 (G114R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351233	NM_001270975.2(IST1):c.785G>C (p.Gly262Ala)	IST1 (G114A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374807	NM_001270975.2(IST1):c.842C>G (p.Ser281Trp)	IST1 (S294W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617998	NM_001270975.2(IST1):c.938C>T (p.Pro313Leu)	IST1 (L312F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396777	NM_001270975.2(IST1):c.953A>G (p.Asp318Gly)	IST1 (D170G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612750	NM_001270975.2(IST1):c.960T>C (p.Tyr320=)	IST1 (M319T)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2558289	NM_001270975.2(IST1):c.1013C>T (p.Ala338Val)	IST1 (H337Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance