ClinVar for MedGen (Select 1794190) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1878661	NM_004837.4(GGPS1):c.764G>A (p.Gly255Asp)	GGPS1 (G201D +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GUncertain significance
Select item 1232305	NM_004837.4(GGPS1):c.854T>G (p.Val285Gly)	GGPS1 (V231G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 1232303	NM_004837.4(GGPS1):c.43C>T (p.Pro15Ser)	GGPS1	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 1232302	NM_004837.4(GGPS1):c.776A>G (p.Tyr259Cys)	GGPS1 (Y205C)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 1232301	NM_004837.4(GGPS1):c.781C>G (p.Arg261Gly)	GGPS1 (R207G)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 869200	NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	GGPS1 (R207H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome +3 more	GConflicting classifications of pathogenicity

ClinVar