"Athena Diagnostics Inc"[submitter] AND "MYO3A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805064	NM_017433.5(MYO3A):c.1935G>T (p.Glu645Asp)	MYO3A (E645D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287164	NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 805065	NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met)	MYO3A (T925M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 178466	NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)	MYO3A (E1010K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 994694	NM_017433.5(MYO3A):c.3232A>T (p.Ile1078Leu)	MYO3A (I1078L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 299667	NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 164625	NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45810	NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr)	MYO3A (P1287T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45813	NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile)	MYO3A (T1417I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45818	NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign