C1843028[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 171

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357985	NM_004999.4(MYO6):c.-225G>C	MYO6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357986	NM_004999.4(MYO6):c.-185G>T	MYO6	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 357987	NM_004999.4(MYO6):c.-49C>G	MYO6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 911670	NM_004999.4(MYO6):c.-19C>A	MYO6	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911671	NM_004999.4(MYO6):c.26C>T (p.Ala9Val)	MYO6 (A9V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 227673	NM_004999.4(MYO6):c.188-3T>C	MYO6	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 908721	NM_004999.4(MYO6):c.189T>G (p.Cys63Trp)	MYO6 (C63W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 357988	NM_004999.4(MYO6):c.262-12T>G	MYO6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357989	NM_004999.4(MYO6):c.262-9C>T	MYO6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 908722	NM_004999.4(MYO6):c.406C>A (p.Arg136=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909577	NM_004999.4(MYO6):c.438T>C (p.Ser146=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 180087	NM_004999.4(MYO6):c.441C>T (p.Ile147=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45163	NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)	MYO6 (E159K)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 909578	NM_004999.4(MYO6):c.553+10A>G	MYO6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 45164	NM_004999.4(MYO6):c.553+11T>C	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 357990	NM_004999.4(MYO6):c.564C>T (p.Leu188=)	MYO6	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45166	NM_004999.4(MYO6):c.600C>T (p.Asn200=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 357991	NM_004999.4(MYO6):c.605A>G (p.Asn202Ser)	MYO6 (N202S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 8580	NM_004999.4(MYO6):c.647A>T (p.Glu216Val)	MYO6 (E216V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GUncertain significance
Select item 357992	NM_004999.4(MYO6):c.755G>A (p.Cys252Tyr)	MYO6 (C252Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911740	NM_004999.4(MYO6):c.798T>G (p.Ser266Arg)	MYO6 (S261R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911741	NM_004999.4(MYO6):c.908C>T (p.Ala303Val)	MYO6 (A303V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911742	NM_004999.4(MYO6):c.966G>A (p.Thr322=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 45131	NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)	MYO6 (A342V +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 908783	NM_004999.4(MYO6):c.1029C>T (p.Gly343=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 45132	NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)	MYO6 (V344I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 908784	NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr)	MYO6 (I345T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GUncertain significance
Select item 45133	NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)	MYO6 (Y374H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 259604	NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)	MYO6 (D382N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 357993	NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln)	MYO6 (R387Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 45134	NM_004999.4(MYO6):c.1176A>G (p.Thr392=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 357994	NM_004999.4(MYO6):c.1180G>A (p.Val394Ile)	MYO6 (V394I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357995	NM_004999.4(MYO6):c.1199G>A (p.Gly400Glu)	MYO6 (G400E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 45136	NM_004999.4(MYO6):c.1224-4A>G	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45137	NM_004999.4(MYO6):c.1546+7_1546+8del	MYO6	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 45138	NM_004999.4(MYO6):c.1656G>A (p.Lys552=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178623	NM_004999.4(MYO6):c.1674+13A>G	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 911799	NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn)	MYO6 (K559N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 45140	NM_004999.4(MYO6):c.1722C>T (p.Asp574=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 911800	NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile)	MYO6 (S672I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 357996	NM_004999.4(MYO6):c.2284A>G (p.Lys762Glu)	MYO6 (K762E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 908844	NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg)	MYO6 (W782R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908845	NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg)	MYO6 (Q816R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 259605	NM_004999.4(MYO6):c.2517T>C (p.Gly839=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45144	NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)	MYO6 (T845I +1 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related condition +4 more	GConflicting classifications of pathogenicity
Select item 178473	NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala)	MYO6 (D851A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 178474	NM_004999.4(MYO6):c.2595C>T (p.Pro865=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 909699	NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr)	MYO6 (S887T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 357997	NM_004999.4(MYO6):c.2672C>T (p.Thr891Met)	MYO6 (T891M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 357998	NM_004999.4(MYO6):c.2787T>G (p.Ile929Met)	MYO6 (I929M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 357999	NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys)	MYO6 (R940C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 164639	NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)	MYO6 (R946C +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 228278	NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)	MYO6 (R947* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 358000	NM_004999.4(MYO6):c.2946+10T>C	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 911844	NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu)	MYO6 (R986L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GConflicting classifications of pathogenicity
Select item 45151	NM_004999.4(MYO6):c.2982G>A (p.Glu994=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 911845	NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln)	MYO6 (R1005Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 45153	NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)	MYO6 (R1059T +1 more)	Single nucleotide variant (missense variant +1 more)	Infertility disorder +6 more	GConflicting classifications of pathogenicity
Select item 164644	NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45154	NM_004999.4(MYO6):c.3303C>T (p.Cys1101=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 45155	NM_004999.4(MYO6):c.3333G>A (p.Val1111=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 909765	NM_004999.4(MYO6):c.3439+13G>T	MYO6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909766	NM_004999.4(MYO6):c.3483G>A (p.Glu1161=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 909767	NM_004999.4(MYO6):c.3515G>A (p.Arg1172His)	MYO6 (R1140H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 909768	NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn)	MYO6 (D1189N +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 45158	NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg)	MYO6 (K1188R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 910675	NM_004999.4(MYO6):c.3597A>G (p.Gly1199=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910676	NM_004999.4(MYO6):c.3659-10A>G	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 45159	NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn)	MYO6 (D1223N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 911907	NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn)	MYO6 (I1224N +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 45160	NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)	MYO6 (Y1275C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45130	NM_004999.4(MYO6):c.*12C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 911908	NM_004999.4(MYO6):c.*34T>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 358001	NM_004999.4(MYO6):c.*148T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 908966	NM_004999.4(MYO6):c.*186A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 908967	NM_004999.4(MYO6):c.*263T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908968	NM_004999.4(MYO6):c.*301G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 909840	NM_004999.4(MYO6):c.*303A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 909841	NM_004999.4(MYO6):c.*305T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 358002	NM_004999.4(MYO6):c.*311T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358003	NM_004999.4(MYO6):c.*350T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 358004	NM_004999.4(MYO6):c.*362A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 910739	NM_004999.4(MYO6):c.*401A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910740	NM_004999.4(MYO6):c.*429T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 358005	NM_004999.4(MYO6):c.*459A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 358006	NM_004999.4(MYO6):c.*511G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358007	NM_004999.4(MYO6):c.*650G>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 911958	NM_004999.4(MYO6):c.*692C>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911959	NM_004999.4(MYO6):c.*860G>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 358008	NM_004999.4(MYO6):c.*875C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909028	NM_004999.4(MYO6):c.*1011T>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358009	NM_004999.4(MYO6):c.*1030T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358011	NM_004999.4(MYO6):c.*1181G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358012	NM_004999.4(MYO6):c.*1232C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GConflicting classifications of pathogenicity
Select item 358013	NM_004999.4(MYO6):c.*1284T>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 909888	NM_004999.4(MYO6):c.*1287T>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 909889	NM_004999.4(MYO6):c.*1324A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910792	NM_004999.4(MYO6):c.*1335G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 358015	NM_004999.4(MYO6):c.*1469G>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GBenign/Likely benign
Select item 358016	NM_004999.4(MYO6):c.*1522C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance

<< First< Prev

Page of 2