ClinVar for Gene (Select 53904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382343	NM_017433.5(MYO3A):c.2260C>T (p.Gln754Ter)	MYO3A (Q754*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 3379952	NM_017433.5(MYO3A):c.1627G>C (p.Ala543Pro)	MYO3A (A543P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378281	NM_017433.5(MYO3A):c.3736G>A (p.Glu1246Lys)	MYO3A (E1246K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375928	NM_017433.5(MYO3A):c.4241C>T (p.Ser1414Leu)	MYO3A (S1414L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375082	NM_017433.5(MYO3A):c.4583_4586del (p.Asp1528fs)	MYO3A (D1528fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 3372283	NM_017433.5(MYO3A):c.1575T>A (p.Asn525Lys)	MYO3A (N525K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369121	NM_017433.5(MYO3A):c.4411C>T (p.Arg1471Ter)	MYO3A (R1471*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3366147	NM_017433.5(MYO3A):c.4568G>A (p.Arg1523Gln)	MYO3A (R1523Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363699	NM_017433.5(MYO3A):c.178G>A (p.Glu60Lys)	MYO3A (E60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360977	NM_017433.5(MYO3A):c.2954G>A (p.Arg985Lys)	MYO3A (R985K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360961	NM_017433.5(MYO3A):c.1508G>A (p.Gly503Glu)	MYO3A (G503E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360006	NM_017433.5(MYO3A):c.2867_2868inv (p.Ser956Asn)	MYO3A (S956N)	Inversion (missense variant)	not provided	GUncertain significance
Select item 3356845	NM_017433.5(MYO3A):c.2734A>G (p.Thr912Ala)	MYO3A (T912A)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 3355415	NM_017433.5(MYO3A):c.117G>T (p.Leu39Phe)	MYO3A (L39F)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 3354798	NM_017433.5(MYO3A):c.4613A>G (p.Asp1538Gly)	MYO3A (D1538G)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 3348399	NM_017433.5(MYO3A):c.2737C>G (p.Arg913Gly)	MYO3A (R913G)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 3348347	NM_017433.5(MYO3A):c.439A>G (p.Ile147Val)	MYO3A (I147V)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 3347192	NM_017433.5(MYO3A):c.4583A>G (p.Asp1528Gly)	MYO3A (D1528G)	Single nucleotide variant (missense variant)	MYO3A-related disorder	GUncertain significance
Select item 3338258	NM_017433.5(MYO3A):c.2105C>G (p.Ser702Ter)	MYO3A (S702*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 3338134	NM_017433.5(MYO3A):c.954-13684A>G	MYO3A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3297847	NM_017433.5(MYO3A):c.3876G>C (p.Arg1292Ser)	MYO3A (R1292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297846	NM_017433.5(MYO3A):c.3430G>T (p.Ala1144Ser)	MYO3A (A1144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297845	NM_017433.5(MYO3A):c.574A>G (p.Met192Val)	MYO3A (M192V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297844	NM_017433.5(MYO3A):c.2477G>A (p.Ser826Asn)	MYO3A (S826N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297843	NM_017433.5(MYO3A):c.2738G>A (p.Arg913His)	MYO3A (R913H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297842	NM_017433.5(MYO3A):c.158A>T (p.Asp53Val)	MYO3A (D53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297841	NM_017433.5(MYO3A):c.4057A>C (p.Ile1353Leu)	MYO3A (I1353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297840	NM_017433.5(MYO3A):c.214C>A (p.Leu72Ile)	MYO3A (L72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297839	NM_017433.5(MYO3A):c.625G>T (p.Ala209Ser)	MYO3A (A209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257257	NM_017433.5(MYO3A):c.1464A>G (p.Gly488=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253419	NM_017433.5(MYO3A):c.3643C>G (p.Gln1215Glu)	MYO3A (Q1215E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252978	NM_017433.5(MYO3A):c.210A>T (p.Lys70Asn)	MYO3A (K70N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252838	NM_017433.5(MYO3A):c.1286T>C (p.Ile429Thr)	MYO3A (I429T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251237	GRCh37/hg19 10p12.1(chr10:26355904-26385611)x3	MYO3A	Copy number gain	not provided	GLikely pathogenic
Select item 3244994	NC_000010.10:g.(?_26285399)_(26286207_?)del	MYO3A	Deletion	not provided	GPathogenic
Select item 3242023	NM_017433.5(MYO3A):c.1543C>T (p.Arg515Ter)	MYO3A (R515*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 3164521	NM_017433.5(MYO3A):c.3996A>T (p.Lys1332Asn)	MYO3A (K1332N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164507	NM_017433.5(MYO3A):c.3678T>G (p.Asn1226Lys)	MYO3A (N1226K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3164502	NM_017433.5(MYO3A):c.3578A>T (p.Asn1193Ile)	MYO3A (N1193I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164493	NM_017433.5(MYO3A):c.3521A>G (p.Glu1174Gly)	MYO3A (E1174G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164428	NM_017433.5(MYO3A):c.2469G>C (p.Met823Ile)	MYO3A (M823I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164425	NM_017433.5(MYO3A):c.2420A>T (p.Lys807Ile)	MYO3A (K807I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164360	NM_017433.5(MYO3A):c.1421G>A (p.Gly474Asp)	MYO3A (G474D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164357	NM_017433.5(MYO3A):c.1355G>A (p.Gly452Glu)	MYO3A (G452E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075927	NM_017433.5(MYO3A):c.2421dup (p.Phe808fs)	MYO3A (F808fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075926	NM_017433.5(MYO3A):c.192del (p.Glu65fs)	MYO3A (E65fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075880	NM_017433.5(MYO3A):c.4335dup (p.Leu1446fs)	MYO3A (L1446fs)	Duplication (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 3063147	GRCh37/hg19 10p12.1(chr10:25747082-26352575)x3	GPR158, MYO3A	Copy number gain	not specified	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 3051784	NM_017433.5(MYO3A):c.3045C>T (p.Ser1015=)	MYO3A	Single nucleotide variant (synonymous variant)	MYO3A-related disorder	GLikely benign
Select item 3029456	NM_017433.5(MYO3A):c.3274+5T>G	MYO3A	Single nucleotide variant (intron variant)	MYO3A-related disorder	GLikely benign
Select item 3026306	NM_017433.5(MYO3A):c.4545+2T>G	MYO3A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3023399	NM_017433.5(MYO3A):c.4714A>G (p.Ile1572Val)	MYO3A (I1572V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022443	NM_017433.5(MYO3A):c.2114+15A>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017243	NM_017433.5(MYO3A):c.2054G>A (p.Arg685His)	MYO3A (R685H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012469	NM_017433.5(MYO3A):c.2390C>T (p.Pro797Leu)	MYO3A (P797L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012441	NM_017433.5(MYO3A):c.2917C>T (p.Arg973Trp)	MYO3A (R973W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010518	NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)	MYO3A (N1447fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3008142	NM_017433.5(MYO3A):c.953+2T>C	MYO3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3004509	NM_017433.5(MYO3A):c.2196G>A (p.Leu732=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000684	NM_017433.5(MYO3A):c.2017G>C (p.Asp673His)	MYO3A (D673H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999901	NM_017433.5(MYO3A):c.2416+10C>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998846	NM_017433.5(MYO3A):c.832G>A (p.Val278Met)	MYO3A (V278M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998455	NM_017433.5(MYO3A):c.743dup (p.Leu250fs)	MYO3A (L250fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2996525	NM_017433.5(MYO3A):c.3876del (p.Arg1292fs)	MYO3A (R1292fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2986008	NM_017433.5(MYO3A):c.3860C>G (p.Pro1287Arg)	MYO3A (P1287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984428	NM_017433.5(MYO3A):c.3787A>G (p.Ile1263Val)	MYO3A (I1263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983756	NM_017433.5(MYO3A):c.3240G>C (p.Glu1080Asp)	MYO3A (E1080D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981304	NM_017433.5(MYO3A):c.1251T>C (p.Ser417=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978474	NM_017433.5(MYO3A):c.508+19G>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971191	NM_017433.5(MYO3A):c.1256T>C (p.Ile419Thr)	MYO3A (I419T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2966405	NM_017433.5(MYO3A):c.25A>G (p.Ile9Val)	MYO3A (I9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962079	NM_017433.5(MYO3A):c.844T>C (p.Leu282=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961046	NM_017433.5(MYO3A):c.2092T>C (p.Leu698=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959214	NM_017433.5(MYO3A):c.2989T>G (p.Phe997Val)	MYO3A (F997V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958983	NM_017433.5(MYO3A):c.4737G>A (p.Trp1579Ter)	MYO3A (W1579*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2958962	NM_017433.5(MYO3A):c.594A>C (p.Ala198=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956967	NM_017433.5(MYO3A):c.4453G>A (p.Glu1485Lys)	MYO3A (E1485K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921297	NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)	MYO3A (L239P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 30	GPathogenic
Select item 2917710	NM_017433.5(MYO3A):c.4516G>C (p.Glu1506Gln)	MYO3A (E1506Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912454	NM_017433.5(MYO3A):c.1950C>T (p.Leu650=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910822	NM_017433.5(MYO3A):c.1344G>T (p.Leu448=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909553	NM_017433.5(MYO3A):c.992G>A (p.Arg331Gln)	MYO3A (R331Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905302	NM_017433.5(MYO3A):c.4047A>G (p.Ala1349=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898460	NM_017433.5(MYO3A):c.2971C>T (p.Arg991Trp)	MYO3A (R991W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897208	NM_017433.5(MYO3A):c.2873G>A (p.Arg958His)	MYO3A (R958H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895330	NM_017433.5(MYO3A):c.3433A>G (p.Ile1145Val)	MYO3A (I1145V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894177	NM_017433.5(MYO3A):c.3501C>G (p.Ser1167=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894054	NM_017433.5(MYO3A):c.1432A>G (p.Thr478Ala)	MYO3A (T478A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892050	NM_017433.5(MYO3A):c.1804G>A (p.Ala602Thr)	MYO3A (A602T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2890669	NM_017433.5(MYO3A):c.2079C>T (p.Cys693=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888978	NM_017433.5(MYO3A):c.2017G>A (p.Asp673Asn)	MYO3A (D673N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886656	NM_017433.5(MYO3A):c.168+8A>T	MYO3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876806	NM_017433.5(MYO3A):c.168+3A>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876592	NM_017433.5(MYO3A):c.4293+22_4293+25del	MYO3A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2872132	NM_017433.5(MYO3A):c.2281G>A (p.Asp761Asn)	MYO3A (D761N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872083	NM_017433.5(MYO3A):c.243C>A (p.Phe81Leu)	MYO3A (F81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870032	NM_017433.5(MYO3A):c.4293+4T>G	MYO3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868467	NC_000010.11:g.26016820del	MYO3A	Deletion	not provided	GPathogenic

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