C1865870[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2679433	NM_153676.4(USH1C):c.2381-7_2381del	USH1C	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A	GLikely pathogenic
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 551392	NM_153676.4(USH1C):c.2227-1G>T	USH1C	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1C +3 more	GPathogenic/Likely 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 47990	NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)	USH1C (Q723*)	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 1065977	NM_005709.4(USH1C):c.1211-3_1232del	USH1C	Deletion (splice acceptor variant +1 more)	not provided +1 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 553726	NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)	USH1C	Deletion (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 551676	NM_153676.4(USH1C):c.1020-2A>C	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	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 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 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 553769	NM_153676.4(USH1C):c.877-1G>A	USH1C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GPathogenic/Likely 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 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 553618	NM_153676.4(USH1C):c.760-1G>T	USH1C	Single nucleotide variant (splice acceptor 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)	Autosomal recessive nonsyndromic hearing loss 18A +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)	Usher syndrome type 1C +2 more	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 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 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 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 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 5140	NM_153676.4(USH1C):c.497-2del	USH1C	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 18A +1 more	GPathogenic
Select item 551814	NM_153676.4(USH1C):c.496+1G>T	USH1C	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GPathogenic
Select item 371732	NM_153676.4(USH1C):c.496+1G>A	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)	not provided +2 more	GPathogenic/Likely pathogenic
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 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 1422631	NM_153676.4(USH1C):c.348_373del (p.His116fs)	USH1C (H116fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 554093	NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)	USH1C (G104D)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +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 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 5141	NM_153676.4(USH1C):c.238dup (p.Arg80fs)	USH1C (R80fs)	Duplication (frameshift variant +1 more)	Rare genetic deafness +6 more	GPathogenic
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 5143	NM_153676.4(USH1C):c.216G>A (p.Val72=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Rare genetic deafness +5 more	GPathogenic
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 5146	NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)	USH1C (R31*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +3 more	GPathogenic
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 1942848	NM_153676.4(USH1C):c.37-1G>C	USH1C	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
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

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Items: 58