"GeneDx"[submitter] AND "PAPPA2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 3208506	NM_020318.3(PAPPA2):c.977G>A (p.Arg326His)	PAPPA2 (R326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1707725	NM_020318.3(PAPPA2):c.1120C>T (p.Arg374Trp)	PAPPA2 (R374W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339833	NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter)	PAPPA2 (R578*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3208480	NM_020318.3(PAPPA2):c.1850G>A (p.Arg617His)	PAPPA2 (R617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3342438	NM_020318.3(PAPPA2):c.1967G>A (p.Cys656Tyr)	PAPPA2 (C656Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2066135	NM_020318.3(PAPPA2):c.3376G>T (p.Glu1126Ter)	PAPPA2 (E1126*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1675295	NM_020318.3(PAPPA2):c.4126G>A (p.Glu1376Lys)	PAPPA2 (E1376K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 144798	GRCh38/hg38 1q25.2(chr1:176743655-176811980)x1	LOC129388643, PAPPA2	Copy number loss	See cases	GBenign
Select item 2442702	NM_020318.3(PAPPA2):c.4701G>A (p.Glu1567=)	PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic