"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYO3A"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45791	NM_017433.5(MYO3A):c.-15T>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 164604	NM_017433.5(MYO3A):c.409-21TA[2]	MYO3A	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 45817	NM_017433.5(MYO3A):c.480G>T (p.Thr160=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45820	NM_017433.5(MYO3A):c.624C>T (p.Asp208=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 45822	NM_017433.5(MYO3A):c.660C>T (p.Ala220=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 260812	NM_017433.5(MYO3A):c.731+20G>A	MYO3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 178622	NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)	MYO3A (A317P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45823	NM_017433.5(MYO3A):c.956G>A (p.Arg319His)	MYO3A (R319H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 45792	NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val)	MYO3A (I348V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 299651	NM_017433.5(MYO3A):c.1053+11_1053+12inv	MYO3A	Inversion	Nonsyndromic Hearing Loss, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 260810	NM_017433.5(MYO3A):c.1104_1105delinsTA (p.Val369Ile)	MYO3A (V369I)	Indel (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 45796	NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 45797	NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile)	MYO3A (V369I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 45798	NM_017433.5(MYO3A):c.1170+7C>T	MYO3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2443380	NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter)	MYO3A (S398*)	Single nucleotide variant (nonsense)	MYO3A-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 178459	NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2971191	NM_017433.5(MYO3A):c.1256T>C (p.Ile419Thr)	MYO3A (I419T)	Single nucleotide variant (missense variant)	MYO3A-related disorder +1 more	GLikely benign
Select item 178463	NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45799	NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)	MYO3A (A520V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227663	NM_017433.5(MYO3A):c.1566A>C (p.Gly522=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 45801	NM_017433.5(MYO3A):c.1743G>A (p.Glu581=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 164618	NM_017433.5(MYO3A):c.1777-14G>T	MYO3A	Single nucleotide variant (intron variant)	MYO3A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 737252	NM_017433.5(MYO3A):c.1777-4T>G	MYO3A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 515585	NM_017433.5(MYO3A):c.1941A>G (p.Gln647=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 287164	NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1369945	NM_017433.5(MYO3A):c.2228A>G (p.Tyr743Cys)	MYO3A (Y743C)	Single nucleotide variant (missense variant)	MYO3A-related disorder +1 more	GUncertain significance
Select item 3051862	NM_017433.5(MYO3A):c.2340G>T (p.Leu780=)	MYO3A	Single nucleotide variant (synonymous variant)	MYO3A-related disorder	GLikely benign
Select item 45803	NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser)	MYO3A (A833S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 179937	NM_017433.5(MYO3A):c.2625G>C (p.Leu875=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30 +3 more	GConflicting classifications of pathogenicity
Select item 45804	NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn)	MYO3A (S956N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 164624	NM_017433.5(MYO3A):c.2973G>T (p.Arg991=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3051784	NM_017433.5(MYO3A):c.3045C>T (p.Ser1015=)	MYO3A	Single nucleotide variant (synonymous variant)	MYO3A-related disorder	GLikely benign
Select item 45806	NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)	MYO3A (A1032T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 45807	NM_017433.5(MYO3A):c.3112-4T>C	MYO3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2635313	NM_017433.5(MYO3A):c.3112-2A>G	MYO3A	Single nucleotide variant (splice acceptor variant)	MYO3A-related disorder	GLikely pathogenic
Select item 226795	NM_017433.5(MYO3A):c.3133G>A (p.Val1045Met)	MYO3A (V1045M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +3 more	GConflicting classifications of pathogenicity
Select item 3029456	NM_017433.5(MYO3A):c.3274+5T>G	MYO3A	Single nucleotide variant (intron variant)	MYO3A-related disorder	GLikely benign
Select item 45808	NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 45809	NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser)	MYO3A (T1284S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 45811	NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser)	MYO3A (R1313S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 164629	NM_017433.5(MYO3A):c.4335A>G (p.Lys1445=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3010518	NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)	MYO3A (N1447fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2633638	NM_017433.5(MYO3A):c.4399_4409del (p.Pro1467fs)	MYO3A (P1467fs)	Deletion (frameshift variant)	MYO3A-related disorder	GLikely pathogenic
Select item 260811	NM_017433.5(MYO3A):c.4438+18T>C	MYO3A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 45815	NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu)	MYO3A (K1488E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 45816	NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)	MYO3A (I1489V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178472	NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu)	MYO3A (Q1530L)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49