"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179560	NM_004999.4(MYO6):c.-12CCT[1]	MYO6	Microsatellite (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 227674	NM_004999.4(MYO6):c.18C>T (p.Pro6=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 227675	NM_004999.4(MYO6):c.27G>A (p.Ala9=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 504641	NM_004999.4(MYO6):c.52A>G (p.Met18Val)	MYO6 (M18V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 930134	NM_004999.4(MYO6):c.78del (p.Asp27fs)	MYO6 (D27fs)	Deletion (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 666726	NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)	MYO6 (I31T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 667281	NM_004999.4(MYO6):c.178G>C (p.Glu60Gln)	MYO6 (E60Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 227673	NM_004999.4(MYO6):c.188-3T>C	MYO6	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 505686	NM_004999.4(MYO6):c.217C>G (p.Leu73Val)	MYO6 (L73V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 178957	NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)	MYO6 (R80*)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 667412	NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs)	MYO6 (Y87fs)	Indel (frameshift variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 228993	NM_004999.4(MYO6):c.292A>G (p.Asn98Asp)	MYO6 (N98D)	Single nucleotide variant (missense variant +1 more)	not specified	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 228376	NM_004999.4(MYO6):c.458C>G (p.Ser153Ter)	MYO6 (S153*)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness	GPathogenic
Select item 164633	NM_004999.4(MYO6):c.465C>T (p.Ala155=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 45162	NM_004999.4(MYO6):c.470A>G (p.Lys157Arg)	MYO6 (K157R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 517508	NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr)	MYO6 (D179Y)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 45164	NM_004999.4(MYO6):c.553+11T>C	MYO6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 227676	NM_004999.4(MYO6):c.553+13T>A	MYO6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 45165	NM_004999.4(MYO6):c.558C>A (p.Asn186Lys)	MYO6 (N186K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 8581	NM_004999.4(MYO6):c.737A>G (p.His246Arg)	MYO6 (H246R +1 more)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 164634	NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)	MYO6 (R276* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45167	NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)	MYO6 (L292S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 517276	NM_004999.4(MYO6):c.887A>G (p.Lys296Arg)	MYO6 (K296R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 45168	NM_004999.4(MYO6):c.951T>C (p.Phe317=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 228989	NM_004999.4(MYO6):c.1079-5A>G	MYO6	Single nucleotide variant (intron variant)	not specified	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 provided +3 more	GBenign/Likely benign
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 45135	NM_004999.4(MYO6):c.1212A>G (p.Gly404=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 504979	NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser)	MYO6 (N417S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 667278	NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr)	MYO6 (A417T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 178931	NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp)	MYO6 (E461D +1 more)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 227672	NM_004999.4(MYO6):c.1473+10A>G	MYO6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 517209	NM_004999.4(MYO6):c.1516G>T (p.Val506Leu)	MYO6 (V506L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 45137	NM_004999.4(MYO6):c.1546+7_1546+8del	MYO6	Microsatellite (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +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)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GConflicting classifications of pathogenicity
Select item 178623	NM_004999.4(MYO6):c.1674+13A>G	MYO6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 37 +3 more	GConflicting classifications of pathogenicity
Select item 45139	NM_004999.4(MYO6):c.1695G>C (p.Leu565=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 45140	NM_004999.4(MYO6):c.1722C>T (p.Asp574=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 517639	NM_004999.4(MYO6):c.1748C>T (p.Ala583Val)	MYO6 (A583V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 228990	NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln)	MYO6 (R618Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505227	NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del)	MYO6 (N628del +1 more)	Microsatellite (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 228991	NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg)	MYO6 (G703R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 45141	NM_004999.4(MYO6):c.2111dup (p.Tyr705fs)	MYO6 (Y700fs +1 more)	Duplication	Rare genetic deafness	GLikely pathogenic
Select item 45142	NM_004999.4(MYO6):c.2170G>C (p.Asp724His)	MYO6 (D724H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 504642	NM_004999.4(MYO6):c.2175A>G (p.Lys725=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 505187	NM_004999.4(MYO6):c.2286+8T>C	MYO6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 45143	NM_004999.4(MYO6):c.2472T>G (p.Ile824Met)	MYO6 (I824M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 228992	NM_004999.4(MYO6):c.2507G>A (p.Arg836His)	MYO6 (R836H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 45144	NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)	MYO6 (T845I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 8582	NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)	MYO6 (R849* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness +1 more	GPathogenic
Select item 45145	NM_004999.4(MYO6):c.2548C>G (p.Leu850Val)	MYO6 (L850V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 667279	NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys)	MYO6 (N849K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 178474	NM_004999.4(MYO6):c.2595C>T (p.Pro865=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GConflicting classifications of pathogenicity
Select item 504643	NM_004999.4(MYO6):c.2616G>T (p.Lys872Asn)	MYO6 (K872N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 45146	NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)	MYO6 (D879N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 45149	NM_004999.4(MYO6):c.2658+8A>G	MYO6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 45147	NM_004999.4(MYO6):c.2658+17C>T	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GBenign
Select item 45148	NM_004999.4(MYO6):c.2658+20A>C	MYO6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 179744	NM_004999.4(MYO6):c.2665A>G (p.Met889Val)	MYO6 (M889V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 179679	NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro)	MYO6 (S906P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505405	NM_004999.4(MYO6):c.2733T>C (p.Ser911=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 667280	NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly)	MYO6 (R922G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 228375	NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs)	MYO6 (R934fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 357999	NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys)	MYO6 (R940C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +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 504988	NM_004999.4(MYO6):c.2837G>A (p.Arg946His)	MYO6 (R946H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 179255	NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)	MYO6 (E970del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45150	NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly)	MYO6 (R971G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 517605	NM_004999.4(MYO6):c.2926G>T (p.Asp976Tyr)	MYO6 (D976Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 179747	NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln)	MYO6 (R991Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 45152	NM_004999.4(MYO6):c.3137+5G>A	MYO6	Single nucleotide variant (intron variant)	not provided +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)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 179684	NM_004999.4(MYO6):c.3207T>C (p.Ala1069=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 179643	NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs)	MYO6 (A1079fs +4 more)	Indel (frameshift variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 929909	NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg)	MYO6 (K1051R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 164645	NM_004999.4(MYO6):c.3270T>C (p.Asn1090=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 505414	NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro)	MYO6 (L1109P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 228994	NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp)	MYO6 (N1123D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 45156	NM_004999.4(MYO6):c.3384A>G (p.Gln1128=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 667282	NM_004999.4(MYO6):c.3386G>A (p.Arg1129His)	MYO6 (R1106H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 164646	NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser)	MYO6 (P1131S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 666727	NM_004999.4(MYO6):c.3393A>G (p.Pro1131=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 164647	NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys)	MYO6 (R1169C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 228995	NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)	MYO6 (R1177C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 289702	NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)	MYO6 (R1177H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45157	NM_004999.4(MYO6):c.3537C>T (p.Ala1179=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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

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