"Ambry Genetics"[submitter] AND "PIN1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2318736	NM_006221.4(PIN1):c.22C>T (p.Pro8Ser)	PIN1 (P8S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357943	NM_006221.4(PIN1):c.23C>T (p.Pro8Leu)	PIN1 (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310600	NM_006221.4(PIN1):c.114C>A (p.Ser38Arg)	PIN1 (S38R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336961	NM_006221.4(PIN1):c.157G>T (p.Ala53Ser)	PIN1 (A53S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556030	NM_006221.4(PIN1):c.419C>T (p.Ala140Val)	PIN1 (A140V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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