"GeneDx"[submitter] AND "C2orf88"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 1285648	NM_005259.3(MSTN):c.748-128C>T	C2orf88, MSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 65688	NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)	C2orf88, MSTN (K153R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1258180	NM_005259.3(MSTN):c.374-84A>T	C2orf88, MSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181797	NM_005259.3(MSTN):c.374-130G>A	C2orf88, MSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182266	NM_005259.3(MSTN):c.373+90del	MSTN, C2orf88	Deletion (intron variant)	not provided	GBenign

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