"GeneDx"[submitter] AND "MYO6"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 311

<< First< Prev

Page of 4

	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 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 1181480	NM_004999.4(MYO6):c.-48+42G>T	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281046	NM_004999.4(MYO6):c.-47-247A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287413	NM_004999.4(MYO6):c.-47-182_-47-179dup	MYO6	Duplication (intron variant)	not provided	GBenign
Select item 1227004	NM_004999.4(MYO6):c.-47-179dup	MYO6	Duplication (intron variant)	not provided	GBenign
Select item 1195543	NM_004999.4(MYO6):c.-47-197C>A	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187980	NM_004999.4(MYO6):c.-47-183_-47-179dup	MYO6	Duplication (intron variant)	not provided	GLikely benign
Select item 1296413	NM_004999.4(MYO6):c.-47-182A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216398	NM_004999.4(MYO6):c.-47-175G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296428	NM_004999.4(MYO6):c.-47-166G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199034	NM_004999.4(MYO6):c.-47-157C>T	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662650	NM_004999.4(MYO6):c.-47-3C>G	MYO6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1697148	NM_004999.4(MYO6):c.4G>A (p.Glu2Lys)	MYO6 (E2K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1188569	NM_004999.4(MYO6):c.45A>G (p.Gly15=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1304852	NM_004999.4(MYO6):c.61A>G (p.Ile21Val)	MYO6 (I21V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1213156	NM_004999.4(MYO6):c.61A>T (p.Ile21Phe)	MYO6 (I21F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1279252	NM_004999.4(MYO6):c.118-261_118-259del	MYO6	Microsatellite (intron variant)	not provided	GBenign
Select item 1524704	NM_004999.4(MYO6):c.140A>G (p.Gln47Arg)	MYO6 (Q47R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450251	NM_004999.4(MYO6):c.163A>G (p.Ser55Gly)	MYO6 (S55G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321569	NM_004999.4(MYO6):c.166A>G (p.Lys56Glu)	MYO6 (K56E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1267120	NM_004999.4(MYO6):c.187+67T>C	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244534	NM_004999.4(MYO6):c.187+151G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227673	NM_004999.4(MYO6):c.188-3T>C	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2504262	NM_004999.4(MYO6):c.221T>C (p.Leu74Pro)	MYO6 (L74P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1204060	NM_004999.4(MYO6):c.222C>T (p.Leu74=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3363520	NM_004999.4(MYO6):c.247A>G (p.Lys83Glu)	MYO6 (K83E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1248365	NM_004999.4(MYO6):c.261+31G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288194	NM_004999.4(MYO6):c.261+73G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199612	NM_004999.4(MYO6):c.261+129G>C	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286686	NM_004999.4(MYO6):c.262-21G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
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 dominant nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 512843	NM_004999.4(MYO6):c.270C>T (p.Val90=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1065090	NM_004999.4(MYO6):c.271G>A (p.Ala91Thr)	MYO6 (A91T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1304513	NM_004999.4(MYO6):c.287C>T (p.Ala96Val)	MYO6 (A96V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451624	NM_004999.4(MYO6):c.344_345del (p.Tyr115fs)	MYO6 (Y115fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 3008503	NM_004999.4(MYO6):c.359T>C (p.Leu120Pro)	MYO6 (L120P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310547	NM_004999.4(MYO6):c.391+3_391+6del	MYO6	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1190630	NM_004999.4(MYO6):c.391+158A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723555	NM_004999.4(MYO6):c.412A>G (p.Met138Val)	MYO6 (M138V)	Single nucleotide variant (missense variant +1 more)	not provided	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 1265070	NM_004999.4(MYO6):c.498-239C>T	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 909578	NM_004999.4(MYO6):c.553+10A>G	MYO6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45164	NM_004999.4(MYO6):c.553+11T>C	MYO6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1297357	NM_004999.4(MYO6):c.553+185A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215765	NM_004999.4(MYO6):c.554-261G>T	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215628	NM_004999.4(MYO6):c.554-191C>T	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187897	NM_004999.4(MYO6):c.554-79A>C	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246740	NM_004999.4(MYO6):c.554-65A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215040	NM_004999.4(MYO6):c.554-42C>G	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3342352	NM_004999.4(MYO6):c.596G>T (p.Arg199Leu)	MYO6 (R194L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378001	NM_004999.4(MYO6):c.608G>A (p.Ser203Asn)	MYO6 (S198N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided +2 more	GUncertain significance
Select item 1189913	NM_004999.4(MYO6):c.652-223G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202149	NM_004999.4(MYO6):c.652-216G>T	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179495	NM_004999.4(MYO6):c.652-201G>A	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244426	NM_004999.4(MYO6):c.652-92_652-91insT	MYO6	Insertion (intron variant)	not provided	GBenign
Select item 3364612	NM_004999.4(MYO6):c.719A>G (p.Lys240Arg)	MYO6 (K235R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 523990	NM_004999.4(MYO6):c.790_795delinsAA (p.His264fs)	MYO6 (H264fs +1 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 1193090	NM_004999.4(MYO6):c.816+157del	MYO6	Deletion (intron variant +2 more)	not provided	GLikely benign
Select item 1200613	NM_004999.4(MYO6):c.816+257A>G	MYO6	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1266025	NM_004999.4(MYO6):c.817-218T>C	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181071	NM_004999.4(MYO6):c.817-21G>A	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GBenign
Select item 390632	NM_004999.4(MYO6):c.817-1G>A	MYO6	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely 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 1064988	NM_004999.4(MYO6):c.866_869del (p.Lys289fs)	MYO6 (K284fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 45167	NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)	MYO6 (L292S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3165774	NM_004999.4(MYO6):c.883C>T (p.Arg295Cys)	MYO6 (R290C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2967876	NM_004999.4(MYO6):c.884G>A (p.Arg295His)	MYO6 (R290H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430682	NM_004999.4(MYO6):c.897+177_897+179del	MYO6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1200935	NM_004999.4(MYO6):c.897+238C>T	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246167	NM_004999.4(MYO6):c.898-239A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201425	NM_004999.4(MYO6):c.898-51T>A	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313481	NM_004999.4(MYO6):c.993T>A (p.Asp331Glu)	MYO6 (D326E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1207965	NM_004999.4(MYO6):c.1015C>T (p.Arg339Trp)	MYO6 (R334W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 259603	NM_004999.4(MYO6):c.1078+19dup	MYO6	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1296342	NM_004999.4(MYO6):c.1078+110A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232213	NM_004999.4(MYO6):c.1078+132A>C	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264814	NM_004999.4(MYO6):c.1078+184del	MYO6	Deletion (intron variant)	not provided	GBenign
Select item 1272516	NM_004999.4(MYO6):c.1078+237T>G	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
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 259604	NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)	MYO6 (D382N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 620495	NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)	MYO6 (R387* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
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 1223163	NM_004999.4(MYO6):c.1178G>T (p.Arg393Ile)	MYO6 (R388I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 1804452	NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)	MYO6 (V401L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1208702	NM_004999.4(MYO6):c.1224-316A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4