Related gene-specific medical variations for Gene (Select 333926) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217355	NM_005167.7(PPM1J):c.115G>T (p.Ala39Ser)	LOC120893153, PPM1J (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539434	NM_005167.7(PPM1J):c.42C>G (p.Ser14Arg)	LOC120893153, PPM1J (S14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521671	NM_005167.7(PPM1J):c.95C>T (p.Ala32Val)	LOC120893153, PPM1J (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480386	NM_005167.7(PPM1J):c.175A>G (p.Lys59Glu)	LOC120893153, PPM1J (K59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395123	NM_005167.7(PPM1J):c.58C>A (p.Pro20Thr)	LOC120893153, PPM1J (P20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391756	NM_005167.7(PPM1J):c.56C>G (p.Pro19Arg)	LOC120893153, PPM1J (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379077	NM_005167.7(PPM1J):c.79G>A (p.Asp27Asn)	LOC120893153, PPM1J (D27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293569	NM_005167.7(PPM1J):c.103C>T (p.Pro35Ser)	LOC120893153, PPM1J (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243113	NM_005167.7(PPM1J):c.305C>T (p.Pro102Leu)	LOC120893153, PPM1J (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207490	NM_005167.7(PPM1J):c.32A>C (p.His11Pro)	LOC120893153, PPM1J (H11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549573	NC_000001.11:g.112796384_112887499dup	LINC01356, CAPZA1 +12 more	Duplication	Primary amenorrhea	GUncertain significance