ClinVar for MedGen (Select 356389) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 210

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679435	NM_153676.4(USH1C):c.110_113del (p.Met37fs)	USH1C (M37fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679434	NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)	USH1C (W355* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679433	NM_153676.4(USH1C):c.2381-7_2381del	USH1C	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679432	NM_153676.4(USH1C):c.356_365del (p.Lys119fs)	USH1C (K119fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679431	NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)	USH1C (C521* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679430	NM_153676.4(USH1C):c.1039del (p.Gln347fs)	USH1C (Q328fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679429	NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)	USH1C (Q315* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679428	NM_153676.4(USH1C):c.2420del (p.Gly807fs)	USH1C (G488fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679427	NM_153676.4(USH1C):c.249-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679426	NM_153676.4(USH1C):c.70del (p.Asp24fs)	USH1C (D24fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679425	NM_153676.4(USH1C):c.1096del (p.Glu366fs)	USH1C (E347fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679424	NM_153676.4(USH1C):c.1086-1G>T	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679423	NM_153676.4(USH1C):c.877-2A>G	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679422	NM_153676.4(USH1C):c.541del (p.Thr181fs)	USH1C (T181fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679421	NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)	USH1C (Q321* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679420	NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)	USH1C (E349fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679419	NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)	USH1C (Y526* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679418	NM_153676.4(USH1C):c.2185-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2679417	NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)	USH1C (Q257*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2679416	NM_153676.4(USH1C):c.2546+1G>A	USH1C	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2671697	NM_153676.4(USH1C):c.876T>C (p.Ala292=)	USH1C	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 18A	GUncertain significance
Select item 2579696	NM_153676.4(USH1C):c.105-2A>G	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 2197225	NM_153676.4(USH1C):c.579+1G>A	USH1C	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2039338	NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)	USH1C (E287fs +1 more)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1942848	NM_153676.4(USH1C):c.37-1G>C	USH1C	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1705648	NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)	USH1C (C145Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1705618	NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr)	USH1C (C224Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GUncertain significance
Select item 1698964	NM_153676.4(USH1C):c.388-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GPathogenic/Likely pathogenic
Select item 1426729	NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)	USH1C (R220*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1422631	NM_153676.4(USH1C):c.348_373del (p.His116fs)	USH1C (H116fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1334119	NM_153676.4(USH1C):c.104+5G>C	USH1C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1315460	NM_153676.4(USH1C):c.1793G>A (p.Arg598His)	USH1C (R598H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 1209665	NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)	USH1C (R438C +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1180585	NM_153676.4(USH1C):c.1413+52C>T	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GBenign
Select item 1180573	NM_153676.4(USH1C):c.2546+125A>G	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +2 more	GBenign
Select item 1180560	NM_153676.4(USH1C):c.521+56A>G	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +2 more	GBenign
Select item 1180559	NM_153676.4(USH1C):c.579+61G>A	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GBenign
Select item 1118904	NM_153676.4(USH1C):c.204G>T (p.Leu68=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1076666	NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)	USH1C (E325* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1074506	NM_153676.4(USH1C):c.375del (p.Ser125fs)	USH1C (S125fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GPathogenic/Likely pathogenic
Select item 1069904	NM_153676.4(USH1C):c.238del (p.Arg80fs)	USH1C (R80fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GPathogenic
Select item 1069539	NM_153676.4(USH1C):c.36+1G>A	USH1C	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065977	NM_005709.4(USH1C):c.1211-3_1232del	USH1C	Deletion (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1031570	NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)	USH1C (R196*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GPathogenic
Select item 1030295	NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser)	USH1C (T637S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GUncertain significance
Select item 992079	NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)	USH1C (H376Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 992075	NM_153676.4(USH1C):c.2270G>A (p.Arg757His)	USH1C (R438H +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 992072	NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)	USH1C (R473W +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GUncertain significance
Select item 968559	NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)	USH1C (G121S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +4 more	GUncertain significance
Select item 958803	NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)	USH1C (E801* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929922	NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)	USH1C (H793Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 880385	NM_153676.4(USH1C):c.-60T>G	USH1C	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1C +2 more	GUncertain significance
Select item 741286	NM_153676.4(USH1C):c.135C>T (p.Asp45=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 678905	NM_153676.4(USH1C):c.36+214C>T	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GBenign
Select item 678879	NM_153676.4(USH1C):c.760-66T>C	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +2 more	GBenign
Select item 670420	NM_153676.4(USH1C):c.2226+197G>A	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670417	NM_153676.4(USH1C):c.1261-34C>T	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670416	NM_153676.4(USH1C):c.1086-42G>A	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670415	NM_153676.4(USH1C):c.1086-45A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670414	NM_153676.4(USH1C):c.1086-108A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670411	NM_153676.4(USH1C):c.37-61A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670410	NM_153676.4(USH1C):c.-183T>G	USH1C	Single nucleotide variant	Usher syndrome type 1C +2 more	GBenign
Select item 667875	NM_153676.4(USH1C):c.2656-260A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 640495	NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)	USH1C (W359* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 627490	NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer)	USH1C	Microsatellite (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 627489	NM_153676.4(USH1C):c.2491-1G>T	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GPathogenic
Select item 599072	NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)	USH1C (E149K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
Select item 558515	NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter)	USH1C (E455*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 558103	NM_153676.4(USH1C):c.1413+2T>C	USH1C	Single nucleotide variant (intron variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 558049	NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)	USH1C (S624*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 558029	NM_153676.4(USH1C):c.819+1G>A	USH1C	Single nucleotide variant (splice donor variant)	Usher syndrome type 1C +1 more	GLikely pathogenic
Select item 558021	NM_153676.4(USH1C):c.1824del (p.Pro609fs)	USH1C (P609fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 558011	NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)	USH1C (T669fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 557880	NM_153676.4(USH1C):c.2490+1G>T	USH1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 557217	NM_153676.4(USH1C):c.2381-2A>G	USH1C	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1C +1 more	GLikely pathogenic
Select item 557049	NM_153676.4(USH1C):c.2487C>T (p.Gly829=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556943	NM_153676.4(USH1C):c.1414-2_1414-1insCTG	USH1C	Insertion (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 556942	NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer)	USH1C	Insertion (intron variant +2 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556884	NM_153676.4(USH1C):c.1806del (p.Ile603fs)	USH1C (I603fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556802	NM_153676.4(USH1C):c.2490+2T>C	USH1C	Single nucleotide variant (splice donor variant)	Usher syndrome type 1C +1 more	GLikely pathogenic
Select item 556540	NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup)	USH1C	Microsatellite (inframe_insertion +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556479	NM_153676.4(USH1C):c.1806dup (p.Ile603fs)	USH1C (I603fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556412	NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)	USH1C (G406*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556381	NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)	USH1C (C224*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +2 more	GPathogenic/Likely pathogenic
Select item 556183	NM_153676.4(USH1C):c.1265del (p.Gly422fs)	USH1C (G422fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556139	NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs)	USH1C (P573fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556060	NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del)	USH1C	Deletion (inframe_deletion +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 556011	NM_153676.4(USH1C):c.104+1G>A	USH1C	Single nucleotide variant (splice donor variant)	Usher syndrome type 1C +2 more	GLikely pathogenic
Select item 555988	NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)	USH1C (Y430*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GConflicting classifications of pathogenicity
Select item 555875	NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)	USH1C (G200S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 555804	NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1])	USH1C	Microsatellite (inframe_deletion +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 555472	NM_153676.4(USH1C):c.248+1G>A	USH1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 555436	NM_153676.4(USH1C):c.1146dup (p.Gln383fs)	USH1C (Q364fs +1 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1C +2 more	GPathogenic/Likely pathogenic
Select item 555308	NM_153676.4(USH1C):c.388-8T>A	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 555137	NM_153676.4(USH1C):c.2326dup (p.Ile776fs)	USH1C (I457fs +2 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 555084	NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)	USH1C (R899fs)	Duplication (3 prime UTR variant +2 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 555064	NM_005709.4(USH1C):c.1220del (p.Gly407fs)	USH1C (G388fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 555054	NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)	USH1C	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 554676	NM_153676.4(USH1C):c.2490+1del	USH1C	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GConflicting classifications of pathogenicity
Select item 554349	NM_153676.4(USH1C):c.674+1del	USH1C	Deletion (splice donor variant)	Usher syndrome type 1C +1 more	GLikely pathogenic

<< First< Prev

Page of 3