C1865870[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 552608	NM_153676.4(USH1C):c.2681del (p.Gly894fs)	USH1C (G894fs)	Deletion (3 prime UTR variant +2 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 554232	NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)	USH1C (F552del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 552949	NM_153676.4(USH1C):c.2656-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GUncertain significance
Select item 178938	NM_153676.4(USH1C):c.2655+12G>A	USH1C	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 48010	NM_153676.4(USH1C):c.2617G>A (p.Val873Met)	USH1C (V873M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GLikely benign
Select item 451345	NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)	USH1C (R864*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550966	NM_153676.4(USH1C):c.2547-1G>T	USH1C	Single nucleotide variant (intron variant +1 more)	Usher syndrome type 1C +2 more	GLikely benign
Select item 549987	NM_153676.4(USH1C):c.2546+1G>T	USH1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553391	NM_153676.4(USH1C):c.2528dup (p.Glu844fs)	USH1C (E844fs +2 more)	Duplication (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 557880	NM_153676.4(USH1C):c.2490+1G>T	USH1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 554676	NM_153676.4(USH1C):c.2490+1del	USH1C	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GUncertain significance
Select item 557049	NM_153676.4(USH1C):c.2487C>T (p.Gly829=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1C +2 more	GConflicting classifications of pathogenicity
Select item 48004	NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)	USH1C (A520T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 555054	NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)	USH1C	Deletion (inframe_deletion +1 more)	Usher syndrome type 1C +2 more	GUncertain significance
Select item 48002	NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)	USH1C (T514N +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +4 more	GUncertain significance
Select item 229603	NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)	USH1C (N506K +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 48001	NM_153676.4(USH1C):c.2418C>T (p.Asn806=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
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 47998	NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)	USH1C (V481I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 555137	NM_153676.4(USH1C):c.2326dup (p.Ile776fs)	USH1C (I457fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GPathogenic/Likely pathogenic
Select item 552730	NM_153676.4(USH1C):c.2281-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GLikely pathogenic
Select item 553146	NM_153676.4(USH1C):c.2281-2A>G	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GLikely pathogenic
Select item 554114	NM_153676.4(USH1C):c.2280+2T>C	USH1C	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GLikely pathogenic
Select item 178564	NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)	USH1C (Q447R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 551392	NM_153676.4(USH1C):c.2227-1G>T	USH1C	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 47994	NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)	USH1C (K432E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 229602	NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)	USH1C (R431Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 47993	NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)	USH1C (R431W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 554334	NM_153676.4(USH1C):c.2185-2A>G	USH1C	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1C +1 more	GLikely pathogenic
Select item 47990	NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)	USH1C (Q723*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 228194	NM_153676.4(USH1C):c.2124T>C (p.Ser708=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GConflicting classifications of pathogenicity
Select item 553666	NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)	USH1C (E697*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 550266	NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)	USH1C (R681*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 554284	NM_153676.4(USH1C):c.1956_1957del (p.His652fs)	USH1C (H652fs)	Microsatellite (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 179877	NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)	USH1C (A625V)	Single nucleotide variant (missense variant +1 more)	not specified +2 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 552744	NM_153676.4(USH1C):c.1840del (p.Gln614fs)	USH1C (Q614fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GLikely benign
Select item 550414	NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter)	USH1C (Q614*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +1 more	GLikely benign
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 179964	NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)	USH1C (P608S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GConflicting classifications of pathogenicity
Select item 553549	NM_153676.4(USH1C):c.1807dup (p.Ile603fs)	USH1C (I603fs)	Duplication (frameshift variant +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 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 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 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 551281	NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs)	USH1C (Y552fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +1 more	GUncertain significance
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 553953	NM_153676.4(USH1C):c.1559dup (p.Ser521fs)	USH1C (S521fs)	Duplication (frameshift variant +1 more)	not specified +3 more	GUncertain significance
Select item 550528	NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)	USH1C (P519L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GConflicting classifications of pathogenicity
Select item 228193	NM_153676.4(USH1C):c.1548G>A (p.Pro516=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1C +2 more	GLikely benign
Select item 47980	NM_153676.4(USH1C):c.1531-11A>G	USH1C	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 554122	NM_005709.4(USH1C):c.1284+6880del	USH1C	Deletion (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GUncertain significance
Select item 556943	NM_153676.4(USH1C):c.1414-2_1414-1insCTG	USH1C	Insertion (intron variant +1 more)	Usher syndrome type 1C +2 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 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 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 550384	NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)	USH1C (G431V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GConflicting classifications of pathogenicity
Select item 555988	NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)	USH1C (Y430*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 166386	NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
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 555064	NM_005709.4(USH1C):c.1220del (p.Gly407fs)	USH1C (G388fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C +2 more	GPathogenic
Select item 236494	NM_153676.4(USH1C):c.1210+5G>A	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +1 more	GUncertain significance
Select item 555436	NM_153676.4(USH1C):c.1146dup (p.Gln383fs)	USH1C (Q364fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553726	NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)	USH1C	Deletion (nonsense +1 more)	Usher syndrome type 1C +2 more	GPathogenic/Likely pathogenic
Select item 194234	NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)	USH1C (R357W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GUncertain significance
Select item 500413	NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)	USH1C (Q347* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GPathogenic/Likely pathogenic
Select item 551676	NM_153676.4(USH1C):c.1020-2A>C	USH1C	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1C +2 more	GLikely pathogenic
Select item 551086	NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)	USH1C (R339Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 229598	NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)	USH1C (E338A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 553236	NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)	USH1C	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 553769	NM_153676.4(USH1C):c.877-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GLikely pathogenic
Select item 424972	NM_153676.4(USH1C):c.841_848del (p.Ser281fs)	USH1C (S281fs)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GPathogenic/Likely pathogenic
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 553053	NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)	USH1C (D265N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +2 more	GUncertain significance
Select item 553618	NM_153676.4(USH1C):c.760-1G>T	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GLikely pathogenic
Select item 437936	NM_153676.4(USH1C):c.748_759+5del	USH1C	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GPathogenic/Likely pathogenic
Select item 554188	NM_153676.4(USH1C):c.674+2T>G	USH1C	Single nucleotide variant (splice donor variant)	Usher syndrome type 1C +2 more	GPathogenic/Likely pathogenic
Select item 554349	NM_153676.4(USH1C):c.674+1del	USH1C	Deletion (splice donor variant)	Usher syndrome type 1C +1 more	GLikely pathogenic
Select item 553492	NM_153676.4(USH1C):c.674+1G>A	USH1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556381	NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)	USH1C (C224*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 166393	NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)	USH1C (K210T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
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 48019	NM_153676.4(USH1C):c.582C>T (p.Gly194=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 551520	NM_153676.4(USH1C):c.579+1G>C	USH1C	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GPathogenic/Likely pathogenic
Select item 91968	NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)	USH1C (S190L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 48018	NM_153676.4(USH1C):c.497-4G>A	USH1C	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 551814	NM_153676.4(USH1C):c.496+1G>T	USH1C	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 371731	NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)	USH1C (R155*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +2 more	GPathogenic/Likely pathogenic
Select item 437935	NM_153676.4(USH1C):c.440A>G (p.His147Arg)	USH1C (H147R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 229607	NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)	USH1C (G127R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 554093	NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)	USH1C (G104D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 39427	NM_153676.4(USH1C):c.308G>A (p.Arg103His)	USH1C (R103H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 553785	NM_153676.4(USH1C):c.266G>A (p.Arg89His)	USH1C (R89H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 555472	NM_153676.4(USH1C):c.248+1G>A	USH1C	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GLikely pathogenic

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