ClinVar for Gene (Select 5502) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309395	NM_006741.4(PPP1R1A):c.130G>C (p.Asp44His)	PPP1R1A (D44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217556	NM_006741.4(PPP1R1A):c.64G>C (p.Asp22His)	PPP1R1A (D22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217554	NM_006741.4(PPP1R1A):c.462A>T (p.Lys154Asn)	PPP1R1A (K154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217553	NM_006741.4(PPP1R1A):c.367G>A (p.Val123Met)	PPP1R1A (V123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217552	NM_006741.4(PPP1R1A):c.340C>T (p.Arg114Cys)	PPP1R1A (R114C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217551	NM_006741.4(PPP1R1A):c.196A>G (p.Met66Val)	PPP1R1A (M66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552323	NM_006741.4(PPP1R1A):c.457A>G (p.Thr153Ala)	PPP1R1A (T153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534487	NM_006741.4(PPP1R1A):c.13A>C (p.Asn5His)	PPP1R1A (N5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385944	NM_006741.4(PPP1R1A):c.74C>T (p.Ala25Val)	PPP1R1A (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207247	NM_006741.4(PPP1R1A):c.395C>G (p.Thr132Arg)	PPP1R1A (T132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684595	NM_006741.4(PPP1R1A):c.310G>A (p.Ala104Thr)	PPP1R1A (A104T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 782780	NM_006741.4(PPP1R1A):c.404-4C>T	PPP1R1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 424630	NM_006741.4(PPP1R1A):c.372_373delinsCA (p.Glu124_Ser125delinsAspThr)	PPP1R1A	Indel (missense variant)	Rosette-forming glioneuronal tumor	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic