C1832475[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 306146	NM_000260.4(MYO7A):c.-211A>G	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 306147	NM_000260.4(MYO7A):c.-196C>T	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 306148	NM_000260.4(MYO7A):c.-170C>T	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 306150	NM_000260.4(MYO7A):c.-154G>A	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 884039	NM_000260.4(MYO7A):c.-52C>G	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 306151	NM_000260.4(MYO7A):c.-20G>A	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 748880	NM_000260.4(MYO7A):c.19-9C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43258	NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)	MYO7A (L16S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign
Select item 43344	NM_000260.4(MYO7A):c.93C>T (p.Cys31=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 178476	NM_000260.4(MYO7A):c.133-14C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 43141	NM_000260.4(MYO7A):c.133-7C>T	MYO7A	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 306152	NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys)	MYO7A (N52K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 306153	NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)	MYO7A (T54A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 306154	NM_000260.4(MYO7A):c.186G>A (p.Thr62=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 306155	NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu)	MYO7A (R72L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 306156	NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)	MYO7A (D75E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 306157	NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp)	MYO7A (G80D +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 43192	NM_000260.4(MYO7A):c.286-5C>T	MYO7A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 306158	NM_000260.4(MYO7A):c.288G>T (p.Thr96=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43195	NM_000260.4(MYO7A):c.288G>A (p.Thr96=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 43201	NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)	MYO7A	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 306159	NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp)	MYO7A (E117D +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 43224	NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)	MYO7A (I127T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 884158	NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)	MYO7A (P121S +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 164656	NM_000260.4(MYO7A):c.397C>A (p.His133Asn)	MYO7A (H133N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 178475	NM_000260.4(MYO7A):c.448C>A (p.Arg150=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43244	NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)	MYO7A (R150Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43252	NM_000260.4(MYO7A):c.468C>T (p.Ile156=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 504713	NM_000260.4(MYO7A):c.486C>T (p.Ala162=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 882251	NM_000260.4(MYO7A):c.495G>A (p.Thr165=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43272	NM_000260.4(MYO7A):c.510G>A (p.Leu170=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 179841	NM_000260.4(MYO7A):c.514C>T (p.Leu172=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 306160	NM_000260.4(MYO7A):c.549G>A (p.Ser183=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 306161	NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)	MYO7A (Q188E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 306162	NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln)	MYO7A (E191Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 43307	NM_000260.4(MYO7A):c.593-5C>T	MYO7A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 505248	NM_000260.4(MYO7A):c.618C>T (p.Arg206=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 291005	NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)	MYO7A (A226T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GConflicting classifications of pathogenicity
Select item 43339	NM_000260.4(MYO7A):c.687C>T (p.Gly229=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 882288	NM_000260.4(MYO7A):c.741G>A (p.Leu247=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 796037	NM_000260.4(MYO7A):c.759C>T (p.His253=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 43343	NM_000260.4(MYO7A):c.783T>C (p.Gly261=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 178477	NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)	MYO7A (K268R +1 more)	Single nucleotide variant (missense variant)	MYO7A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 882559	NM_000260.4(MYO7A):c.813C>T (p.Gly271=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 306163	NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)	MYO7A (R292W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 306164	NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)	MYO7A (A299T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 11852	NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	MYO7A (R302H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 164665	NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)	MYO7A (R336C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +5 more	GConflicting classifications of pathogenicity
Select item 43134	NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	MYO7A (R336H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 178478	NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)	MYO7A (I376V +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +6 more	GConflicting classifications of pathogenicity
Select item 43135	NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)	MYO7A (R378C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +5 more	GConflicting classifications of pathogenicity
Select item 552693	NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)	MYO7A (T381M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 882606	NM_000260.4(MYO7A):c.1201-12A>G	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 306165	NM_000260.4(MYO7A):c.1242C>T (p.Ile414=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 228999	NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)	MYO7A (R430C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 517205	NM_000260.4(MYO7A):c.1343+8G>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +5 more	GConflicting classifications of pathogenicity
Select item 43142	NM_000260.4(MYO7A):c.1343+8G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 306166	NM_000260.4(MYO7A):c.1344-7C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 306167	NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)	MYO7A (C453Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 227677	NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +5 more	GConflicting classifications of pathogenicity
Select item 179865	NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)	MYO7A (K515Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 306168	NM_000260.4(MYO7A):c.1554G>A (p.Lys518=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 178480	NM_000260.4(MYO7A):c.1554+7C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43150	NM_000260.4(MYO7A):c.1554+8G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43153	NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 228279	NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)	MYO7A (P540H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 883430	NM_000260.4(MYO7A):c.1690+4C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 306169	NM_000260.4(MYO7A):c.1690+9G>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 881075	NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881076	NM_000260.4(MYO7A):c.1797+13C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 306170	NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)	MYO7A (A601T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 517357	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)	MYO7A (R606H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 43161	NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 882707	NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)	MYO7A (T613M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 882708	NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)	MYO7A (D637N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 229000	NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)	MYO7A (R649W +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 883481	NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)	MYO7A (R646Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 43170	NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)	MYO7A (V679I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign/Likely benign
Select item 306171	NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)	MYO7A (R686H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 164678	NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2 +5 more	GConflicting classifications of pathogenicity
Select item 306172	NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)	MYO7A (G703R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 839837	NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)	MYO7A (R696H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 306173	NM_000260.4(MYO7A):c.2146C>G (p.His716Asp)	MYO7A (H716D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 227679	NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 43176	NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)	MYO7A (R740W +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43177	NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)	MYO7A (D746N +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 306174	NM_000260.4(MYO7A):c.2282+5G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 43179	NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2 +6 more	GConflicting classifications of pathogenicity
Select item 43180	NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)	MYO7A (L765M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +5 more	GConflicting classifications of pathogenicity
Select item 306175	NM_000260.4(MYO7A):c.2372G>A (p.Arg791His)	MYO7A (R791H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 881167	NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)	MYO7A (R793W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GUncertain significance
Select item 306176	NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)	MYO7A (R804Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 43183	NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)	MYO7A (R816H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 788602	NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 177732	NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	MYO7A (A826T +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 191024	NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)	MYO7A (R830H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GConflicting classifications of pathogenicity
Select item 229003	NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)	MYO7A (R836C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 306177	NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)	MYO7A (R836H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43185	NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	MYO7A (V843M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 883582	NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity

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