"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYO3A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199644	NM_017433.5(MYO3A):c.113T>C (p.Val38Ala)	MYO3A (V38A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45800	NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)	MYO3A (D57A)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 45819	NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile)	MYO3A (T178I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GBenign/Likely benign
Select item 45821	NM_017433.5(MYO3A):c.656C>T (p.Thr219Met)	MYO3A (T219M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 445495	NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val)	MYO3A (I610V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GUncertain significance
Select item 164620	NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr)	MYO3A (N759Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 299665	NM_017433.5(MYO3A):c.2870A>G (p.Glu957Gly)	MYO3A (E957G)	Single nucleotide variant (missense variant)	MYO3A-related disorder +1 more	GUncertain significance
Select item 45806	NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)	MYO3A (A1032T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 179176	NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)	MYO3A (R1523G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 228985	NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter)	MYO3A (Q1614*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance