"GeneDx"[submitter] AND "MYSM1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 1169493	NM_001085487.3(MYSM1):c.2262C>T (p.Leu754=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1328722	NM_001085487.3(MYSM1):c.836G>A (p.Cys279Tyr)	MYSM1 (C279Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169781	NM_001085487.3(MYSM1):c.790A>G (p.Thr264Ala)	MYSM1 (T264A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1514144	NM_001085487.3(MYSM1):c.427A>G (p.Ile143Val)	MYSM1 (I143V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar