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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213205	NM_001018109.3(PIR):c.847A>T (p.Thr283Ser)	PIR, PIR-FIGF (T283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307072	NM_001018109.3(PIR):c.616G>A (p.Asp206Asn)	PIR, PIR-FIGF (D206N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306707	NM_001018109.3(PIR):c.587C>T (p.Thr196Met)	PIR, PIR-FIGF (T196M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213204	NM_001018109.3(PIR):c.433G>A (p.Asp145Asn)	PIR, PIR-FIGF (D145N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337699	NM_001018109.3(PIR):c.424C>T (p.Pro142Ser)	PIR, PIR-FIGF (P142S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353898	NM_001018109.3(PIR):c.398A>G (p.Glu133Gly)	PIR, PIR-FIGF (E133G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213203	NM_001018109.3(PIR):c.265G>A (p.Asp89Asn)	PIR, PIR-FIGF (D89N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306708	NM_001018109.3(PIR):c.106C>A (p.Leu36Met)	PIR, PIR-FIGF (L36M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306710	NM_001018109.3(PIR):c.98T>C (p.Leu33Ser)	PIR, PIR-FIGF (L33S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance