ClinVar for MedGen (Select 1678385) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13274401.	NM_017917.4(PPP2R3C):c.-9A>G GRCh37: Chr14:35591174 GRCh38: Chr14:35121968	PRORP, PRORP-PSMA6, LOC126861916, PPP2R3C		Spermatogenic failure 36, Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 6274252.	NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro) GRCh37: Chr14:35579121 GRCh38: Chr14:35109915	LOC101927178, PPP2R3C	L103P	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Pathogenic	criteria provided, single submitter
Select item 6274243.	NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser) GRCh37: Chr14:35568586 GRCh38: Chr14:35099380	LOC101927178, PPP2R3C	L193S, L83S	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Pathogenic	criteria provided, single submitter
Select item 6274234.	NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser) GRCh37: Chr14:35560340 GRCh38: Chr14:35091134	LOC101927178, PPP2R3C	F350S, F240S	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Pathogenic	criteria provided, single submitter

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