"Invitae"[submitter] AND "GPR50"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 721171	NM_004224.3(GPR50):c.507C>T (p.Ile169=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789366	NM_004224.3(GPR50):c.555C>T (p.Asn185=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784999	NM_004224.3(GPR50):c.1689G>A (p.Ser563=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2423473	NC_000023.10:g.(?_149613783)_(150573536_?)dup	CD99L2, GPR50 +6 more	Duplication	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2422668	NC_000023.10:g.(?_149613783)_(150573536_?)del	CD99L2, GPR50 +6 more	Deletion	X-linked myopathy with excessive autophagy +1 more	GConflicting classifications of pathogenicity
Select item 831242	NC_000023.10:g.(?_149761067)_(150573540_?)dup	CD99L2, GPR50 +5 more	Duplication	Severe X-linked myotubular myopathy	GUncertain significance

ClinVar