HPN-AS1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 3284720	NM_001384133.1(HPN):c.208G>A (p.Glu70Lys)	HPN, HPN-AS1 (E70K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 781466	NM_001384133.1(HPN):c.288C>G (p.Leu96=)	HPN, HPN-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3284721	NM_001384133.1(HPN):c.368G>A (p.Gly123Glu)	HPN, HPN-AS1 (G123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 787571	NM_001384133.1(HPN):c.714C>T (p.Val238=)	HPN, HPN-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 157441	NR_024561.1(HPN-AS1):n.-3335_43+9498del	HPN-AS1	Deletion	Normal pregnancy	Gnot provided
Select item 157440	NR_024561.1(HPN-AS1):n.-40_43+9498del	HPN-AS1	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided

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Items: 20