Related gene-specific medical variations for Gene (Select 60676) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208505	NM_020318.3(PAPPA2):c.770A>G (p.Gln257Arg)	LOC126805929, PAPPA2 (Q257R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065293	NM_020318.3(PAPPA2):c.2431+46del	PAPPA2 (G826fs)	Deletion (frameshift variant +1 more)	Short stature, Dauber-Argente type	GUncertain significance
Select item 2559189	NM_020318.3(PAPPA2):c.626G>A (p.Gly209Glu)	LOC126805929, PAPPA2 (G209E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509724	NM_020318.3(PAPPA2):c.593G>A (p.Arg198His)	LOC126805929, PAPPA2 (R198H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484391	NM_020318.3(PAPPA2):c.623A>G (p.Asp208Gly)	LOC126805929, PAPPA2 (D208G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477209	NM_020318.3(PAPPA2):c.641G>T (p.Gly214Val)	LOC126805929, PAPPA2 (G214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434576	NM_020318.3(PAPPA2):c.3798+10C>A	PAPPA2	Single nucleotide variant (intron variant)	Short stature, Dauber-Argente type	GUncertain significance
Select item 2387853	NM_020318.3(PAPPA2):c.856G>A (p.Ala286Thr)	LOC126805929, PAPPA2 (A286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381068	NM_020318.3(PAPPA2):c.722A>G (p.Gln241Arg)	LOC126805929, PAPPA2 (Q241R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309106	NM_020318.3(PAPPA2):c.842A>C (p.Glu281Ala)	LOC126805929, PAPPA2 (E281A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265928	NM_020318.3(PAPPA2):c.805C>T (p.Arg269Trp)	LOC126805929, PAPPA2 (R269W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255220	NM_020318.3(PAPPA2):c.602T>C (p.Val201Ala)	LOC126805929, PAPPA2 (V201A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723215	NM_020318.3(PAPPA2):c.543C>T (p.Asn181=)	LOC126805929, PAPPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685631	GRCh37/hg19 1q25.2(chr1:176376431-176611702)x1	PAPPA2	Copy number loss	not provided	GUncertain significance
Select item 394708	GRCh37/hg19 1q25.2(chr1:176468508-176565098)x1	PAPPA2	Copy number loss	See cases	GLikely benign