C1846784[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 299638	NM_017433.5(MYO3A):c.-189C>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely benign
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 299639	NM_017433.5(MYO3A):c.-132A>G	MYO3A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 30	GLikely benign
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 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 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 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 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 45791	NM_017433.5(MYO3A):c.-15T>A	MYO3A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
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 45800	NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)	MYO3A (D57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 164603	NM_017433.5(MYO3A):c.177C>T (p.Asp59=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 45817	NM_017433.5(MYO3A):c.480G>T (p.Thr160=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 45819	NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile)	MYO3A (T178I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 178460	NM_017433.5(MYO3A):c.546G>T (p.Arg182=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 178622	NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)	MYO3A (A317P)	Single nucleotide variant (missense variant)	not provided +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 631632	NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter)	MYO3A (R331*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 45793	NM_017433.5(MYO3A):c.1053+11C>T	MYO3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45794	NM_017433.5(MYO3A):c.1053+12A>G	MYO3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 45798	NM_017433.5(MYO3A):c.1170+7C>T	MYO3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 228974	NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly)	MYO3A (S403G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +3 more	GUncertain significance
Select item 178459	NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)	MYO3A	Single nucleotide variant (synonymous variant)	MYO3A-related condition +3 more	GConflicting classifications of pathogenicity
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 45799	NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)	MYO3A (A520V)	Single nucleotide variant (missense variant)	MYO3A-related condition +3 more	GConflicting classifications of pathogenicity
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 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 631633	NM_017433.5(MYO3A):c.1588dup (p.Tyr530fs)	MYO3A (Y530fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance
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 178465	NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)	MYO3A (P548H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 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 164618	NM_017433.5(MYO3A):c.1777-14G>T	MYO3A	Single nucleotide variant (intron variant)	MYO3A-related condition +3 more	GConflicting classifications of pathogenicity
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 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 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 164617	NM_017433.5(MYO3A):c.1971T>C (p.Thr657=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 281591	NM_017433.5(MYO3A):c.1991G>T (p.Arg664Leu)	MYO3A (R664L)	Single nucleotide variant (missense variant)	not provided +1 more	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 228979	NM_017433.5(MYO3A):c.2115-10A>G	MYO3A	Single nucleotide variant (intron variant)	not specified +2 more	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 164619	NM_017433.5(MYO3A):c.2133G>A (p.Leu711=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45802	NM_017433.5(MYO3A):c.2169T>C (p.Asn723=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 164620	NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr)	MYO3A (N759Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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)	MYO3A-related condition +3 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 228981	NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)	MYO3A (N902T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 805065	NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met)	MYO3A (T925M)	Single nucleotide variant (missense variant)	not provided +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 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)	Autosomal recessive nonsyndromic hearing loss 30 +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 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 45805	NM_017433.5(MYO3A):c.3000-11T>C	MYO3A	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178466	NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)	MYO3A (E1010K)	Single nucleotide variant (missense variant)	not specified +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 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 45806	NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)	MYO3A (A1032T)	Single nucleotide variant (missense variant)	not specified +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 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 77914	NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln)	MYO3A (R1052Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 30 +2 more	GUncertain significance
Select item 299667	NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 178467	NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala)	MYO3A (T1118A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 164625	NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=)	MYO3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 178468	NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)	MYO3A (E1180K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 178469	NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala)	MYO3A (V1195A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 164628	NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys)	MYO3A (E1197K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 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 227666	NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=)	MYO3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227667	NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)	MYO3A (Y1244H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 879858	NM_017433.5(MYO3A):c.3774A>T (p.Leu1258=)	MYO3A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 30	GUncertain significance

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