10083[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 878500	NM_153676.4(USH1C):c.*427T>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 303793	NM_153676.4(USH1C):c.419_420insAACA	USH1C	Insertion (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive +1 more	GBenign
Select item 303794	NM_153676.4(USH1C):c.*405C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GLikely benign
Select item 303795	NM_153676.4(USH1C):c.*376A>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 879077	NM_153676.4(USH1C):c.*241C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 303796	NM_153676.4(USH1C):c.*211A>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 303797	NM_153676.4(USH1C):c.*186C>T	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 303798	NM_153676.4(USH1C):c.*140C>T	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 879078	NM_153676.4(USH1C):c.*131G>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GLikely benign
Select item 879079	NM_153676.4(USH1C):c.*117C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 879080	NM_153676.4(USH1C):c.*110C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 303799	NM_153676.4(USH1C):c.*95C>T	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 262730	NM_153676.4(USH1C):c.*46T>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 303800	NM_153676.4(USH1C):c.*42C>T	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1188218	NM_153676.4(USH1C):c.*1G>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1706397	NM_153676.4(USH1C):c.2696G>A (p.Arg899His)	USH1C (R899H)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 734763	NM_153676.4(USH1C):c.2696G>T (p.Arg899Leu)	USH1C (R899L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 618472	NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly)	USH1C (R899G)	Single nucleotide variant (missense variant +2 more)	not provided	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 1141175	NM_153676.4(USH1C):c.2667G>A (p.Leu889=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 554232	NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)	USH1C (F552del +2 more)	Microsatellite (inframe_deletion +1 more)	Usher syndrome type 1C +2 more	GUncertain significance
Select item 1104700	NM_153676.4(USH1C):c.2665C>T (p.Leu889=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059319	NM_153676.4(USH1C):c.2657A>G (p.Asp886Gly)	USH1C (T550A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1409379	NM_153676.4(USH1C):c.2656-3C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2031932	NM_153676.4(USH1C):c.2656-6C>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1090163	NM_153676.4(USH1C):c.2656-8C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414583	NM_153676.4(USH1C):c.2656-11C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834070	NM_153676.4(USH1C):c.2656-12A>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904749	NM_153676.4(USH1C):c.2656-14C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932815	NM_153676.4(USH1C):c.2656-15T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036057	NM_153676.4(USH1C):c.2656-18G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080281	NM_153676.4(USH1C):c.2656-20C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262733	NM_153676.4(USH1C):c.2656-47C>T	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +3 more	GBenign
Select item 675783	NM_153676.4(USH1C):c.2656-106T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233407	NM_153676.4(USH1C):c.2656-115G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242209	NM_153676.4(USH1C):c.2656-159del	USH1C	Deletion (intron variant)	not provided	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 1283894	NM_153676.4(USH1C):c.2655+264T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249987	NM_153676.4(USH1C):c.2655+180C>A	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196671	NM_153676.4(USH1C):c.2655+33T>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 753841	NM_153676.4(USH1C):c.2655G>A (p.Thr885=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 793785	NM_153676.4(USH1C):c.2635C>T (p.Leu879Phe)	USH1C (L879F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 504697	NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)	USH1C (G877E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 504696	NM_153676.4(USH1C):c.2616C>T (p.Ala872=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 48009	NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)	USH1C (A871T)	Single nucleotide variant (missense variant +1 more)	USH1C-related condition +4 more	GConflicting classifications of pathogenicity
Select item 764488	NM_153676.4(USH1C):c.2609G>A (p.Arg870His)	USH1C (R870H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 180086	NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln)	USH1C (R864Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 451345	NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)	USH1C (R864*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +2 more	GConflicting classifications of pathogenicity
Select item 750680	NM_153676.4(USH1C):c.2585C>T (p.Pro862Leu)	USH1C (P862L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 229606	NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu)	USH1C (P860L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 667353	NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg)	USH1C (S859R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505367	NM_153676.4(USH1C):c.2568A>G (p.Val856=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 730376	NM_153676.4(USH1C):c.2566G>A (p.Val856Ile)	USH1C (V856I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 505000	NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)	USH1C (S851A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550966	NM_153676.4(USH1C):c.2547-1G>T	USH1C	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GLikely benign
Select item 178560	NM_153676.4(USH1C):c.2547-8A>G	USH1C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 48008	NM_153676.4(USH1C):c.2547-11T>C	USH1C	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1208721	NM_153676.4(USH1C):c.2547-46G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678908	NM_153676.4(USH1C):c.2547-159_2547-158del	USH1C	Deletion (intron variant)	not provided	GBenign
Select item 678883	NM_153676.4(USH1C):c.2547-183C>G	USH1C	Single nucleotide variant (intron variant)	not provided	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 2954631	NM_153676.4(USH1C):c.2546+19C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882242	NM_153676.4(USH1C):c.2546+19del	USH1C	Deletion (intron variant)	not provided	GLikely benign
Select item 2916794	NM_153676.4(USH1C):c.2546+15G>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914230	NM_153676.4(USH1C):c.2546+14A>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1109694	NM_153676.4(USH1C):c.2546+9G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1154498	NM_153676.4(USH1C):c.2546+8T>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903395	NM_153676.4(USH1C):c.2546+4A>C	USH1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 1555148	NM_153676.4(USH1C):c.2544G>A (p.Glu848=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 880302	NM_153676.4(USH1C):c.2541T>C (p.Asp847=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2192422	NM_153676.4(USH1C):c.2540A>G (p.Asp847Gly)	USH1C (D528G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 950695	NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)	USH1C (D847N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 178561	NM_153676.4(USH1C):c.2538C>T (p.Asp846=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 3001658	NM_153676.4(USH1C):c.2529G>A (p.Lys843=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1942413	NM_153676.4(USH1C):c.2525C>G (p.Pro842Arg)	USH1C (P542R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1049716	NM_153676.4(USH1C):c.2525del (p.Pro842fs)	USH1C (P523fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1440197	NM_153676.4(USH1C):c.2522C>A (p.Pro841His)	USH1C (P541H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1157872	NM_153676.4(USH1C):c.2520C>T (p.Cys840=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	USH1C-related condition +1 more	GLikely benign
Select item 1617524	NM_153676.4(USH1C):c.2514C>T (p.Ala838=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2269822	NM_153676.4(USH1C):c.2513C>T (p.Ala838Val)	USH1C (A538V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2738778	NM_153676.4(USH1C):c.2508G>A (p.Val836=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082549	NM_153676.4(USH1C):c.2503C>T (p.Leu835Phe)	USH1C (L516F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2810585	NM_153676.4(USH1C):c.2502C>T (p.Asp834=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2143365	NM_153676.4(USH1C):c.2500G>A (p.Asp834Asn)	USH1C (D515N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 48007	NM_153676.4(USH1C):c.2499C>T (p.Ile833=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2841077	NM_153676.4(USH1C):c.2491-1G>C	USH1C	Single nucleotide variant (splice acceptor variant)	not provided	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 2851985	NM_153676.4(USH1C):c.2491-5C>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036566	NM_153676.4(USH1C):c.2491-5C>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655147	NM_153676.4(USH1C):c.2491-5C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign

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