"Ambry Genetics"[submitter] AND "HPN-AS1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106801	NM_001384133.1(HPN):c.382A>G (p.Thr128Ala)	HPN, HPN-AS1 (T128A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255575	NM_001384133.1(HPN):c.390G>T (p.Arg130Ser)	HPN, HPN-AS1 (R130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106802	NM_001384133.1(HPN):c.518G>A (p.Arg173Gln)	HPN, HPN-AS1 (R173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106806	NM_001384133.1(HPN):c.664G>A (p.Val222Met)	HPN, HPN-AS1 (V222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255136	NM_001384133.1(HPN):c.704A>T (p.Gln235Leu)	HPN, HPN-AS1 (Q235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245861	NM_001384133.1(HPN):c.706G>T (p.Ala236Ser)	HPN, HPN-AS1 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308961	NM_001384133.1(HPN):c.815A>G (p.Tyr272Cys)	HPN, HPN-AS1 (Y272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106800	NM_001384133.1(HPN):c.1060G>A (p.Gly354Ser)	HPN, HPN-AS1 (G354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232872	NM_001384133.1(HPN):c.1087A>G (p.Ile363Val)	HPN, HPN-AS1 (I363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603715	NM_001384133.1(HPN):c.1088T>G (p.Ile363Ser)	HPN, HPN-AS1 (I363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance