"GeneDx"[submitter] AND "LOC126862494"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	GUncertain significance
Select item 60133	GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3	GAS7, LOC112529894 +14 more	Copy number gain	See cases	GUncertain significance
Select item 710105	NM_002472.3(MYH8):c.3513G>A (p.Glu1171=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3343149	NM_002472.3(MYH8):c.3364G>C (p.Gly1122Arg)	LOC126862494, MYH8 +1 more (G1122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283964	NM_002472.3(MYH8):c.3345+36A>G	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129674	NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign
Select item 129673	NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)	MYHAS, LOC126862494 +1 more	Single nucleotide variant (synonymous variant)	Hecht syndrome +2 more	GBenign

ClinVar