CN239329[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637955	NM_002470.4(MYH3):c.3976G>C (p.Ala1326Pro)	MYH3 (A1326P)	Single nucleotide variant (missense variant)	MYH3-Related Disorders	GUncertain significance
Select item 2637954	NM_002470.4(MYH3):c.3593C>A (p.Ala1198Glu)	MYH3 (A1198E)	Single nucleotide variant (missense variant)	MYH3-Related Disorders	GUncertain significance
Select item 321761	NM_002470.4(MYH3):c.1309T>A (p.Phe437Ile)	MYH3 (F437I)	Single nucleotide variant (missense variant)	MYH3-Related Disorders +1 more	GUncertain significance
Select item 989268	NM_002470.4(MYH3):c.523A>C (p.Ile175Leu)	MYH3 (I175L)	Single nucleotide variant (missense variant)	MYH3-Related Disorders	GUncertain significance
Select item 321773	NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)	MYH3 (P83R)	Single nucleotide variant (missense variant)	MYH3-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 587706	NM_002470.4(MYH3):c.-9+1G>A	MYH3	Single nucleotide variant (splice donor variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more	GPathogenic/Likely pathogenic

ClinVar