"Ambry Genetics"[submitter] AND "MYO1A"[gene] - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2307159	NM_005379.4(MYO1A):c.3110G>C (p.Cys1037Ser)	MYO1A (C1037S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163027	NM_005379.4(MYO1A):c.3085C>T (p.Arg1029Cys)	MYO1A (R1029C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213635	NM_005379.4(MYO1A):c.3076A>G (p.Ser1026Gly)	MYO1A (S1026G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383466	NM_005379.4(MYO1A):c.3072C>A (p.Asp1024Glu)	MYO1A (D1024E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223451	NM_005379.4(MYO1A):c.3030C>G (p.Asn1010Lys)	MYO1A (N1010K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163016	NM_005379.4(MYO1A):c.2995G>A (p.Val999Met)	MYO1A (V999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390544	NM_005379.4(MYO1A):c.2972C>T (p.Thr991Met)	MYO1A (T991M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295484	NM_005379.4(MYO1A):c.2918G>A (p.Ser973Asn)	MYO1A (S973N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297771	NM_005379.4(MYO1A):c.2885C>T (p.Ser962Leu)	MYO1A (S962L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163006	NM_005379.4(MYO1A):c.2840G>T (p.Ser947Ile)	MYO1A (S947I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297768	NM_005379.4(MYO1A):c.2830T>G (p.Ser944Ala)	MYO1A (S944A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163002	NM_005379.4(MYO1A):c.2821G>T (p.Ala941Ser)	MYO1A (A941S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297774	NM_005379.4(MYO1A):c.2771C>T (p.Thr924Ile)	MYO1A (T924I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162993	NM_005379.4(MYO1A):c.2734C>T (p.Arg912Trp)	MYO1A (R912W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297773	NM_005379.4(MYO1A):c.2723A>C (p.Lys908Thr)	MYO1A (K908T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297761	NM_005379.4(MYO1A):c.2695G>A (p.Val899Met)	MYO1A (V899M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297762	NM_005379.4(MYO1A):c.2621T>C (p.Ile874Thr)	MYO1A (I874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 439957	NM_005379.4(MYO1A):c.2513C>T (p.Pro838Leu)	MYO1A (P838L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2374297	NM_005379.4(MYO1A):c.2497C>T (p.Arg833Trp)	MYO1A (R833W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162975	NM_005379.4(MYO1A):c.2363T>A (p.Leu788Gln)	MYO1A (L788Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164583	NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu)	MYO1A (K781E)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 2462809	NM_005379.4(MYO1A):c.2335A>G (p.Ile779Val)	MYO1A (I779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162968	NM_005379.4(MYO1A):c.2309A>C (p.Glu770Ala)	MYO1A (E770A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283581	NM_005379.4(MYO1A):c.2294A>G (p.Lys765Arg)	MYO1A (K765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594044	NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu)	MYO1A (R764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291576	NM_005379.4(MYO1A):c.2214A>T (p.Lys738Asn)	MYO1A (K738N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615516	NM_005379.4(MYO1A):c.2141G>T (p.Arg714Leu)	MYO1A (R714L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292963	NM_005379.4(MYO1A):c.1996A>G (p.Met666Val)	MYO1A (M666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487838	NM_005379.4(MYO1A):c.1994G>A (p.Ser665Asn)	MYO1A (S665N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162955	NM_005379.4(MYO1A):c.1916G>A (p.Arg639Gln)	MYO1A (R639Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297769	NM_005379.4(MYO1A):c.1871G>C (p.Gly624Ala)	MYO1A (G624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297763	NM_005379.4(MYO1A):c.1856G>A (p.Arg619Gln)	MYO1A (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569705	NM_005379.4(MYO1A):c.1792G>A (p.Gly598Ser)	MYO1A (G598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297758	NM_005379.4(MYO1A):c.1682C>T (p.Pro561Leu)	MYO1A (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518890	NM_005379.4(MYO1A):c.1679C>T (p.Pro560Leu)	MYO1A (P560L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297766	NM_005379.4(MYO1A):c.1675C>T (p.Arg559Cys)	MYO1A (R559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164593	NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe)	MYO1A (S556F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3297760	NM_005379.4(MYO1A):c.1660C>G (p.Gln554Glu)	MYO1A (Q554E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251675	NM_005379.4(MYO1A):c.1636T>G (p.Leu546Val)	MYO1A (L546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255033	NM_005379.4(MYO1A):c.1616A>T (p.Gln539Leu)	MYO1A (Q539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162945	NM_005379.4(MYO1A):c.1600G>A (p.Ala534Thr)	MYO1A (A534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387537	NM_005379.4(MYO1A):c.1526C>T (p.Ala509Val)	MYO1A (A509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162934	NM_005379.4(MYO1A):c.1495G>A (p.Gly499Ser)	MYO1A (G499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334425	NM_005379.4(MYO1A):c.1467T>A (p.Asn489Lys)	MYO1A (N489K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334374	NM_005379.4(MYO1A):c.1411A>G (p.Lys471Glu)	MYO1A (K471E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372477	NM_005379.4(MYO1A):c.1378C>T (p.Pro460Ser)	MYO1A (P460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545473	NM_005379.4(MYO1A):c.1375C>T (p.Arg459Trp)	MYO1A (R459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297767	NM_005379.4(MYO1A):c.1300G>C (p.Asp434His)	MYO1A (D434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383054	NM_005379.4(MYO1A):c.1287G>T (p.Lys429Asn)	MYO1A (K429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558528	NM_005379.4(MYO1A):c.1274T>C (p.Ile425Thr)	MYO1A (I425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297772	NM_005379.4(MYO1A):c.1062T>G (p.Phe354Leu)	MYO1A (F354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297765	NM_005379.4(MYO1A):c.960G>T (p.Arg320Ser)	MYO1A (R320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402366	NM_005379.4(MYO1A):c.956C>T (p.Ser319Leu)	MYO1A (S319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462872	NM_005379.4(MYO1A):c.785G>A (p.Arg262Gln)	MYO1A (R262Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297764	NM_005379.4(MYO1A):c.755C>A (p.Ala252Glu)	MYO1A (A252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401217	NM_005379.4(MYO1A):c.721G>A (p.Ala241Thr)	MYO1A (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163049	NM_005379.4(MYO1A):c.533T>C (p.Ile178Thr)	LOC126861538, MYO1A (I178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163044	NM_005379.4(MYO1A):c.491A>C (p.Asp164Ala)	LOC126861538, MYO1A (D164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328485	NM_005379.4(MYO1A):c.358G>C (p.Ala120Pro)	LOC126861538, MYO1A (A120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615517	NM_005379.4(MYO1A):c.352G>A (p.Val118Met)	LOC126861538, MYO1A (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701204	NM_005379.4(MYO1A):c.278G>A (p.Arg93Gln)	LOC126861538, MYO1A (R93Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2349668	NM_005379.4(MYO1A):c.247G>A (p.Val83Met)	LOC126861538, MYO1A (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465521	NM_005379.4(MYO1A):c.122T>C (p.Ile41Thr)	MYO1A (I41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689512	NM_005379.4(MYO1A):c.58G>A (p.Val20Met)	MYO1A (V20M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2298423	NM_005379.4(MYO1A):c.32A>C (p.Glu11Ala)	MYO1A (E11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219609	NM_005379.4(MYO1A):c.23T>C (p.Val8Ala)	MYO1A (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 66