ClinVar for MedGen (Select 335521) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690482	NM_017433.5(MYO3A):c.115T>C (p.Leu39=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2664930	NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)	MYO3A (N1128fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 1805771	NM_017433.5(MYO3A):c.905C>T (p.Thr302Met)	MYO3A (T302M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GConflicting classifications of pathogenicity
Select item 1687422	NM_017433.5(MYO3A):c.892C>T (p.Gln298Ter)	MYO3A (Q298*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1364384	NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln)	MYO3A (R991Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324767	NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu)	MYO3A (G488E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324766	NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs)	MYO3A (Y1002fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 1323315	NM_017433.5(MYO3A):c.4587-1G>A	MYO3A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 1314052	NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter)	MYO3A (S928*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GConflicting classifications of pathogenicity
Select item 1283500	NM_017433.5(MYO3A):c.2716-29G>A	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GBenign
Select item 1272109	NM_017433.5(MYO3A):c.586-22T>C	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GBenign
Select item 1255117	NM_017433.5(MYO3A):c.586-28A>G	MYO3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231013	NM_017433.5(MYO3A):c.586-29C>T	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GBenign
Select item 1224976	NM_017433.5(MYO3A):c.954-32A>G	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GBenign
Select item 1199644	NM_017433.5(MYO3A):c.113T>C (p.Val38Ala)	MYO3A (V38A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GUncertain significance
Select item 1185653	NM_017433.5(MYO3A):c.3737_3738del (p.Glu1246fs)	MYO3A (E1246fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 1185069	NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter)	MYO3A (W1031*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 1127897	NM_017433.5(MYO3A):c.426T>G (p.His142Gln)	MYO3A (H142Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GConflicting classifications of pathogenicity
Select item 879906	NM_017433.5(MYO3A):c.*538G>T	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879905	NM_017433.5(MYO3A):c.*476G>A	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879904	NM_017433.5(MYO3A):c.*354A>G	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879858	NM_017433.5(MYO3A):c.3774A>T (p.Leu1258=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879857	NM_017433.5(MYO3A):c.3763G>A (p.Ala1255Thr)	MYO3A (A1255T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879812	NM_017433.5(MYO3A):c.2188G>A (p.Glu730Lys)	MYO3A (E730K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879769	NM_017433.5(MYO3A):c.1111G>A (p.Val371Met)	MYO3A (V371M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879709	NM_017433.5(MYO3A):c.-109C>T	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879708	NM_017433.5(MYO3A):c.-146G>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879543	NM_017433.5(MYO3A):c.*239C>T	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879542	NM_017433.5(MYO3A):c.*195C>T	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879443	NM_017433.5(MYO3A):c.1975G>A (p.Gly659Arg)	MYO3A (G659R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879442	NM_017433.5(MYO3A):c.1899G>T (p.Glu633Asp)	MYO3A (E633D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 879383	NM_017433.5(MYO3A):c.912C>A (p.Phe304Leu)	MYO3A (F304L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 878796	NM_017433.5(MYO3A):c.509-15T>C	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 878795	NM_017433.5(MYO3A):c.233T>G (p.Val78Gly)	MYO3A (V78G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 878032	NM_017433.5(MYO3A):c.3085G>A (p.Asp1029Asn)	MYO3A (D1029N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 877917	NM_017433.5(MYO3A):c.4140C>T (p.Val1380=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GConflicting classifications of pathogenicity
Select item 877869	NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln)	MYO3A (R1000Q)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 90 +2 more	GUncertain significance
Select item 877816	NM_017433.5(MYO3A):c.1561A>C (p.Ile521Leu)	MYO3A (I521L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 877766	NM_017433.5(MYO3A):c.-30A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 805065	NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met)	MYO3A (T925M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 802566	NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)	MYO3A (C1317fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 655296	NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	MYO3A (R457fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 632133	NM_017433.5(MYO3A):c.4849T>C (p.Ter1617Gln)	MYO3A	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 631635	NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)	MYO3A (R1561*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GConflicting classifications of pathogenicity
Select item 631634	NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter)	MYO3A (L1502*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631633	NM_017433.5(MYO3A):c.1588dup (p.Tyr530fs)	MYO3A (Y530fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 631632	NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter)	MYO3A (R331*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 631631	NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer)	MYO3A	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 627464	NM_017433.5(MYO3A):c.2636-1G>T	MYO3A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely pathogenic
Select item 627463	NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter)	MYO3A (E578*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 627462	NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter)	MYO3A (R562*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 618746	NM_017433.5(MYO3A):c.3499del (p.Ser1167fs)	MYO3A (S1167fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 452379	NM_017433.5(MYO3A):c.2701A>G (p.Ile901Val)	MYO3A (I901V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 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 299690	NM_017433.5(MYO3A):c.*493G>A	MYO3A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299689	NM_017433.5(MYO3A):c.*435G>T	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299688	NM_017433.5(MYO3A):c.*422C>G	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299685	NM_017433.5(MYO3A):c.*327G>A	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299684	NM_017433.5(MYO3A):c.*270A>G	MYO3A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299683	NM_017433.5(MYO3A):c.*246C>T	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GBenign/Likely benign
Select item 299682	NM_017433.5(MYO3A):c.*233C>T	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299681	NM_017433.5(MYO3A):c.*2C>G	MYO3A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299680	NM_017433.5(MYO3A):c.4743G>A (p.Ala1581=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299679	NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299678	NM_017433.5(MYO3A):c.4489C>T (p.Arg1497Trp)	MYO3A (R1497W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299677	NM_017433.5(MYO3A):c.4407T>C (p.Asn1469=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299676	NM_017433.5(MYO3A):c.3993C>T (p.Val1331=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299675	NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)	MYO3A (I1294V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 299674	NM_017433.5(MYO3A):c.3862A>G (p.Thr1288Ala)	MYO3A (T1288A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299673	NM_017433.5(MYO3A):c.3757T>C (p.Ser1253Pro)	MYO3A (S1253P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299672	NM_017433.5(MYO3A):c.3661C>G (p.Leu1221Val)	MYO3A (L1221V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299671	NM_017433.5(MYO3A):c.3537G>A (p.Val1179=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299670	NM_017433.5(MYO3A):c.3398+3A>G	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 299669	NM_017433.5(MYO3A):c.3337G>A (p.Val1113Ile)	MYO3A (V1113I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 299668	NM_017433.5(MYO3A):c.3256G>A (p.Ala1086Thr)	MYO3A (A1086T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299667	NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GConflicting classifications of pathogenicity
Select item 299666	NM_017433.5(MYO3A):c.3035C>T (p.Pro1012Leu)	MYO3A (P1012L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299665	NM_017433.5(MYO3A):c.2870A>G (p.Glu957Gly)	MYO3A (E957G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 299664	NM_017433.5(MYO3A):c.2854A>C (p.Ile952Leu)	MYO3A (I952L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299663	NM_017433.5(MYO3A):c.2263-3T>G	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299662	NM_017433.5(MYO3A):c.2115-7C>A	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299660	NM_017433.5(MYO3A):c.2016C>T (p.Thr672=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299659	NM_017433.5(MYO3A):c.1792T>C (p.Tyr598His)	MYO3A (Y598H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299658	NM_017433.5(MYO3A):c.1746A>G (p.Gln582=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299657	NM_017433.5(MYO3A):c.1662-9T>A	MYO3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299656	NM_017433.5(MYO3A):c.1583T>C (p.Ile528Thr)	MYO3A (I528T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299655	NM_017433.5(MYO3A):c.1562T>C (p.Ile521Thr)	MYO3A (I521T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299653	NM_017433.5(MYO3A):c.1276-5T>C	MYO3A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299652	NM_017433.5(MYO3A):c.1170+15G>A	MYO3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299650	NM_017433.5(MYO3A):c.938G>A (p.Gly313Asp)	MYO3A (G313D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 299649	NM_017433.5(MYO3A):c.906G>A (p.Thr302=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 299648	NM_017433.5(MYO3A):c.859A>C (p.Ile287Leu)	MYO3A (I287L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 299647	NM_017433.5(MYO3A):c.706A>G (p.Met236Val)	MYO3A (M236V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +1 more	GUncertain significance
Select item 299646	NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)	MYO3A (D204N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299645	NM_017433.5(MYO3A):c.332T>C (p.Leu111Pro)	MYO3A (L111P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299644	NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn)	MYO3A (I51N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 299643	NM_017433.5(MYO3A):c.-18G>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GBenign
Select item 299642	NM_017433.5(MYO3A):c.-37A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299641	NM_017433.5(MYO3A):c.-50A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
Select item 299639	NM_017433.5(MYO3A):c.-132A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely benign

<< First< Prev

Page of 2