"GeneDx"[submitter] AND "MYO1A"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1318916	NM_005379.4(MYO1A):c.*19A>G	MYO1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 309895	NM_005379.4(MYO1A):c.3095A>C (p.Lys1032Thr)	MYO1A (K1032T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 178621	NM_005379.4(MYO1A):c.3026A>C (p.Glu1009Ala)	MYO1A (E1009A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1257585	NM_005379.4(MYO1A):c.3006-63T>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317624	NM_005379.4(MYO1A):c.3005+94C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 45311	NM_005379.4(MYO1A):c.2987C>T (p.Thr996Ile)	MYO1A (T996I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 309896	NM_005379.4(MYO1A):c.2985T>C (p.Leu995=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178845	NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)	MYO1A (E974K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 164578	NM_005379.4(MYO1A):c.2919C>T (p.Ser973=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1326653	NM_005379.4(MYO1A):c.2878-45G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289007	NM_005379.4(MYO1A):c.2877+22A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676684	NM_005379.4(MYO1A):c.2724+28C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452920	NM_005379.4(MYO1A):c.2662G>A (p.Gly888Arg)	MYO1A (G888R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316208	NM_005379.4(MYO1A):c.2592-55G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228542	NM_005379.4(MYO1A):c.2592-58G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227184	NM_005379.4(MYO1A):c.2591+146A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270231	NM_005379.4(MYO1A):c.2591+62G>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317916	NM_005379.4(MYO1A):c.2591+22C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682253	NM_005379.4(MYO1A):c.2530C>T (p.Leu844=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175634	NM_005379.4(MYO1A):c.2485-45C>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178620	NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)	MYO1A (S797F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1278954	NM_005379.4(MYO1A):c.2350-188G>A	LOC130008108, MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271685	NM_005379.4(MYO1A):c.2349+116A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 45309	NM_005379.4(MYO1A):c.2302C>T (p.Arg768Trp)	MYO1A (R768W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1257837	NM_005379.4(MYO1A):c.2275-156G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181530	NM_005379.4(MYO1A):c.2274+121G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250385	NM_005379.4(MYO1A):c.2274+16AG[2]	MYO1A	Microsatellite (intron variant)	not provided	GBenign
Select item 45308	NM_005379.4(MYO1A):c.2238C>G (p.Ser746=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 668394	NM_005379.4(MYO1A):c.2130C>A (p.Gly710=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 683283	NM_005379.4(MYO1A):c.2055+82G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316207	NM_005379.4(MYO1A):c.2055+20A>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 164588	NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe)	MYO1A (I678F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 8150	NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu)	MYO1A (G662E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 499788	NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln)	MYO1A (R654Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 514407	NM_005379.4(MYO1A):c.1882C>T (p.Arg628Cys)	MYO1A (R628C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 164590	NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)	MYO1A (R628G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 515258	NM_005379.4(MYO1A):c.1775A>G (p.Asn592Ser)	MYO1A (N592S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1262484	NM_005379.4(MYO1A):c.1761-164G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 259761	NM_005379.4(MYO1A):c.1533+17G>A	MYO1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 164594	NM_005379.4(MYO1A):c.1517G>C (p.Cys506Ser)	MYO1A (C506S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 309914	NM_005379.4(MYO1A):c.1367A>G (p.Glu456Gly)	MYO1A (E456G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 227655	NM_005379.4(MYO1A):c.1340G>A (p.Arg447Gln)	MYO1A (R447Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 45307	NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu)	MYO1A (P426L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 45306	NM_005379.4(MYO1A):c.1185T>C (p.Phe395=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1251102	NM_005379.4(MYO1A):c.1165-50C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316206	NM_005379.4(MYO1A):c.1099-69G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227041	NM_005379.4(MYO1A):c.1098+111G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8148	NM_005379.4(MYO1A):c.916G>A (p.Val306Met)	MYO1A (V306M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 682258	NM_005379.4(MYO1A):c.905T>C (p.Ile302Thr)	MYO1A (I302T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1320595	NM_005379.4(MYO1A):c.892+51T>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 8146	NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)	LOC126861538, MYO1A (R93*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45312	NM_005379.4(MYO1A):c.49G>C (p.Glu17Gln)	MYO1A (E17Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 164601	NM_005379.4(MYO1A):c.-11C>T	MYO1A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1227996	NM_005379.4(MYO1A):c.-20-12T>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182971	NM_005379.4(MYO1A):c.-20-54T>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 57