7605[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 758

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146557	GRCh38/hg38 6q14.1(chr6:75548198-75783637)x3	LOC123775375, LOC129996733 +7 more	Copy number gain	See cases	GUncertain significance
Select item 152284	GRCh38/hg38 6q14.1(chr6:75655832-76509933)x3	IMPG1, LOC129996735 +7 more	Copy number gain	See cases	GUncertain significance
Select item 357984	NM_004999.3(MYO6):c.-261G>A	LOC129996737, MYO6	Single nucleotide variant	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
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 1181480	NM_004999.4(MYO6):c.-48+42G>T	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 154120	GRCh38/hg38 6q14.1(chr6:75787242-76453312)x3	IMPG1, LOC129996739 +2 more	Copy number gain	See cases	GLikely benign
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 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 179560	NM_004999.4(MYO6):c.-12CCT[1]	MYO6	Microsatellite (5 prime UTR variant +1 more)	not specified	Gnot provided
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 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 8578	NM_004999.4(MYO6):c.36dup (p.Thr13fs)	MYO6 (T13fs)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GPathogenic
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 504641	NM_004999.4(MYO6):c.52A>G (p.Met18Val)	MYO6 (M18V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
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 930134	NM_004999.4(MYO6):c.78del (p.Asp27fs)	MYO6 (D27fs)	Deletion (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1479136	NM_004999.4(MYO6):c.91A>G (p.Ile31Val)	MYO6 (I31V)	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 2274662	NM_004999.4(MYO6):c.103A>T (p.Asn35Tyr)	MYO6 (N35Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2727890	NM_004999.4(MYO6):c.117+11C>T	MYO6	Single nucleotide variant (intron variant)	not provided	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 2547045	NM_004999.4(MYO6):c.162C>G (p.Asp54Glu)	MYO6 (D54E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 specified +2 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 2713189	NM_004999.4(MYO6):c.188-19T>G	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2445628	NM_004999.4(MYO6):c.188-1G>T	MYO6	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 22	GLikely pathogenic
Select item 908721	NM_004999.4(MYO6):c.189T>G (p.Cys63Trp)	MYO6 (C63W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 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 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 2726583	NM_004999.4(MYO6):c.222C>G (p.Leu74=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2707703	NM_004999.4(MYO6):c.256del (p.Ile86fs)	MYO6 (I86fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 1926197	NM_004999.4(MYO6):c.264A>G (p.Thr88=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2071168	NM_004999.4(MYO6):c.275A>G (p.Asn92Ser)	MYO6 (N92S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 547006	NM_004999.4(MYO6):c.286G>A (p.Ala96Thr)	MYO6 (A96T)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 764297	NM_004999.4(MYO6):c.297A>G (p.Pro99=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 451624	NM_004999.4(MYO6):c.344_345del (p.Tyr115fs)	MYO6 (Y115fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2557035	NM_004999.4(MYO6):c.352A>G (p.Lys118Glu)	MYO6 (K118E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2704534	NM_004999.4(MYO6):c.392-20A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1677722	NM_004999.4(MYO6):c.392C>T (p.Ala131Val)	MYO6 (A131V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 2762992	NM_004999.4(MYO6):c.467G>A (p.Gly156Asp)	MYO6 (G156D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2971496	NM_004999.4(MYO6):c.473C>G (p.Thr158Arg)	MYO6 (T158R)	Single nucleotide variant (missense variant +1 more)	not provided	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 1265070	NM_004999.4(MYO6):c.498-239C>T	MYO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592369	NM_004999.4(MYO6):c.498-11A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876545	NM_004999.4(MYO6):c.522A>G (p.Thr174=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2487166	NM_004999.4(MYO6):c.536A>G (p.Asp179Gly)	MYO6 (D179G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2872560	NM_004999.4(MYO6):c.539A>C (p.Asp180Ala)	MYO6 (D180A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656711	NM_004999.4(MYO6):c.542G>A (p.Arg181Lys)	MYO6 (R181K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 397508	NM_004999.4(MYO6):c.548T>A (p.Val183Asp)	MYO6 (V183D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22	GUncertain significance
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 227676	NM_004999.4(MYO6):c.553+13T>A	MYO6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2194517	NM_004999.4(MYO6):c.553+17A>G	MYO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

<< First< Prev

Page of 8