LOC126861365[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 154156	GRCh38/hg38 11q23.3(chr11:120453168-121182251)x3	ARHGEF12, GRIK4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 1228126	NM_005422.4(TECTA):c.2368-135T>G	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 165355	NM_005422.4(TECTA):c.2378A>G (p.Gln793Arg)	LOC126861365, TBCEL-TECTA +1 more (Q793R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1489594	NM_005422.4(TECTA):c.2398T>G (p.Phe800Val)	LOC126861365, TBCEL-TECTA +1 more (F800V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3175660	NM_005422.4(TECTA):c.2402A>G (p.His801Arg)	LOC126861365, TBCEL-TECTA +1 more (H1120R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498288	NM_005422.4(TECTA):c.2408C>T (p.Ser803Leu)	TBCEL-TECTA, LOC126861365 +1 more (S803L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333509	NM_005422.4(TECTA):c.2409G>A (p.Ser803=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21	GUncertain significance
Select item 227994	NM_005422.4(TECTA):c.2418G>A (p.Leu806=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2972195	NM_005422.4(TECTA):c.2421A>C (p.Glu807Asp)	LOC126861365, TECTA +1 more (E1126D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374299	NM_005422.4(TECTA):c.2429G>A (p.Arg810Gln)	LOC126861365, TBCEL-TECTA +1 more (R1129Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310424	NM_005422.4(TECTA):c.2429G>T (p.Arg810Leu)	LOC126861365, TBCEL-TECTA +1 more (R1129L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288521	NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)	LOC126861365, TBCEL-TECTA +1 more (T815M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227995	NM_005422.4(TECTA):c.2445G>A (p.Thr815=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1799538	NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)	LOC126861365, TBCEL-TECTA +1 more (K1139* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 21	GLikely pathogenic
Select item 1912079	NM_005422.4(TECTA):c.2464G>A (p.Val822Met)	LOC126861365, TBCEL-TECTA +1 more (V822M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2908889	NM_005422.4(TECTA):c.2487C>T (p.Asp829=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973553	NM_005422.4(TECTA):c.2489T>C (p.Ile830Thr)	LOC126861365, TBCEL-TECTA +1 more (I830T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 681870	NM_005422.4(TECTA):c.2496A>G (p.Leu832=)	TECTA, LOC126861365 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307289	NM_005422.4(TECTA):c.2503A>C (p.Ile835Leu)	LOC126861365, TBCEL-TECTA +1 more (I1154L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309948	NM_005422.4(TECTA):c.2504T>C (p.Ile835Thr)	LOC126861365, TBCEL-TECTA +1 more (I1154T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2735777	NM_005422.4(TECTA):c.2507G>A (p.Arg836Gln)	LOC126861365, TBCEL-TECTA +1 more (R836Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45321	NM_005422.4(TECTA):c.2511G>A (p.Leu837=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2630495	NM_005422.4(TECTA):c.2522A>G (p.Tyr841Cys)	LOC126861365, TBCEL-TECTA +1 more (Y1160C +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 1215675	NM_005422.4(TECTA):c.2528A>G (p.Asn843Ser)	LOC126861365, TBCEL-TECTA +1 more (N1162S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 229289	NM_005422.4(TECTA):c.2537G>A (p.Gly846Glu)	LOC126861365, TBCEL-TECTA +1 more (G846E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452349	NM_005422.4(TECTA):c.2544G>A (p.Leu848=)	TECTA, LOC126861365 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712725	NM_005422.4(TECTA):c.2548G>A (p.Gly850Ser)	LOC126861365, TBCEL-TECTA +1 more (G1169S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985687	NM_005422.4(TECTA):c.2558A>G (p.Asn853Ser)	LOC126861365, TBCEL-TECTA +1 more (N1172S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1422009	NM_005422.4(TECTA):c.2566G>A (p.Ala856Thr)	LOC126861365, TBCEL-TECTA +1 more (A1175T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 199106	NM_005422.4(TECTA):c.2566G>T (p.Ala856Ser)	LOC126861365, TBCEL-TECTA +1 more (A856S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 178537	NM_005422.4(TECTA):c.2574C>T (p.Asp858=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 229294	NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys)	LOC126861365, TBCEL-TECTA +1 more (E859K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310436	NM_005422.4(TECTA):c.2578T>A (p.Phe860Ile)	LOC126861365, TBCEL-TECTA +1 more (F1179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303008	NM_005422.4(TECTA):c.2586C>G (p.Leu862=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +2 more	GConflicting classifications of pathogenicity
Select item 3234482	NM_005422.4(TECTA):c.2592C>T (p.Asn864=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938608	NM_005422.4(TECTA):c.2600G>A (p.Cys867Tyr)	LOC126861365, TBCEL-TECTA +1 more (C867Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2290459	NM_005422.4(TECTA):c.2603C>T (p.Thr868Met)	LOC126861365, TBCEL-TECTA +1 more (T868M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227996	NM_005422.4(TECTA):c.2604G>T (p.Thr868=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3250404	NM_005422.4(TECTA):c.2614G>T (p.Ala872Ser)	LOC126861365, TBCEL-TECTA +1 more (A1191S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21	GLikely pathogenic
Select item 750385	NM_005422.4(TECTA):c.2637A>G (p.Thr879=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 229295	NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala)	LOC126861365, TBCEL-TECTA +1 more (T880A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 303009	NM_005422.4(TECTA):c.2643C>T (p.Phe881=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 930247	NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys)	LOC126861365, TBCEL-TECTA +1 more (E882K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 229296	NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)	LOC126861365, TBCEL-TECTA +1 more (N886S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 877662	NM_005422.4(TECTA):c.2674C>A (p.Leu892Met)	LOC126861365, TBCEL-TECTA +1 more (L892M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3026450	NM_005422.4(TECTA):c.2695G>A (p.Asp899Asn)	TECTA, LOC126861365 +1 more (D1218N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388621	NM_005422.4(TECTA):c.2699C>T (p.Ser900Leu)	LOC126861365, TBCEL-TECTA +1 more (S1219L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667169	NM_005422.4(TECTA):c.2700G>A (p.Ser900=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 1651883	NM_005422.4(TECTA):c.2703G>A (p.Glu901=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517590	NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter)	LOC126861365, TBCEL-TECTA +1 more (R907* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 1447772	NM_005422.4(TECTA):c.2720G>A (p.Arg907Gln)	LOC126861365, TBCEL-TECTA +1 more (R907Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197840	NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys)	LOC126861365, TBCEL-TECTA +1 more (R1228C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 517481	NM_005422.4(TECTA):c.2726G>A (p.Arg909His)	TBCEL-TECTA, TECTA +1 more (R909H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 562089	NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)	TECTA, LOC126861365 +1 more (C912* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 21 +1 more	GPathogenic/Likely pathogenic
Select item 2901240	NM_005422.4(TECTA):c.2737G>A (p.Gly913Ser)	LOC126861365, TBCEL-TECTA +1 more (G913S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 165357	NM_005422.4(TECTA):c.2739C>T (p.Gly913=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 505362	NM_005422.4(TECTA):c.2740A>G (p.Ile914Val)	LOC126861365, TBCEL-TECTA +1 more (I914V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175662	NM_005422.4(TECTA):c.2748C>A (p.Asn916Lys)	LOC126861365, TBCEL-TECTA +1 more (N916K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 666927	NM_005422.4(TECTA):c.2749G>A (p.Asp917Asn)	LOC126861365, TBCEL-TECTA +1 more (D917N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630828	NM_005422.4(TECTA):c.2750A>G (p.Asp917Gly)	LOC126861365, TBCEL-TECTA +1 more (D1236G +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 229297	NM_005422.4(TECTA):c.2752C>G (p.Pro918Ala)	LOC126861365, TBCEL-TECTA +1 more (P918A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2805787	NM_005422.4(TECTA):c.2761del (p.Ser921fs)	LOC126861365, TBCEL-TECTA +1 more (S1240fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 178636	NM_005422.4(TECTA):c.2781T>C (p.His927=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 1065050	NM_005422.4(TECTA):c.2785del (p.Val929fs)	LOC126861365, TBCEL-TECTA +1 more (V1248fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 806752	NM_005422.4(TECTA):c.2793C>T (p.Asn931=)	TBCEL-TECTA, TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666930	NM_005422.4(TECTA):c.2794G>C (p.Val932Leu)	LOC126861365, TBCEL-TECTA +1 more (V932L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 45322	NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)	LOC126861365, TECTA +1 more (V932A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2013554	NM_005422.4(TECTA):c.2801C>G (p.Ala934Gly)	LOC126861365, TBCEL-TECTA +1 more (A1253G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45323	NM_005422.4(TECTA):c.2805T>C (p.Tyr935=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2243361	NM_005422.4(TECTA):c.2809C>T (p.Arg937Cys)	LOC126861365, TBCEL-TECTA +1 more (R937C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506958	NM_005422.4(TECTA):c.2813C>A (p.Thr938Asn)	LOC126861365, TBCEL-TECTA +1 more (T1257N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446402	NM_005422.4(TECTA):c.2825G>A (p.Arg942His)	LOC126861365, TBCEL-TECTA +1 more (R942H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1409760	NM_005422.4(TECTA):c.2825G>T (p.Arg942Leu)	LOC126861365, TBCEL-TECTA +1 more (R1261L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 165358	NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)	LOC126861365, TBCEL-TECTA +1 more (L943M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2611593	NM_005422.4(TECTA):c.2835G>C (p.Gln945His)	LOC126861365, TBCEL-TECTA +1 more (Q1264H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303010	NM_005422.4(TECTA):c.2835G>A (p.Gln945=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 2399680	NM_005422.4(TECTA):c.2843G>A (p.Gly948Asp)	LOC126861365, TBCEL-TECTA +1 more (G1267D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034175	NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys)	LOC126861365, TBCEL-TECTA +1 more (E950K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 1700904	NM_005422.4(TECTA):c.2866T>C (p.Ser956Pro)	LOC126861365, TBCEL-TECTA +1 more (S1275P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303011	NM_005422.4(TECTA):c.2876G>A (p.Arg959Gln)	LOC126861365, TBCEL-TECTA +1 more (R959Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 667170	NM_005422.4(TECTA):c.2886C>T (p.Ser962=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	TECTA-related disorder +2 more	GBenign/Likely benign
Select item 236059	NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr)	LOC126861365, TBCEL-TECTA +1 more (A963T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GPathogenic
Select item 879283	NM_005422.4(TECTA):c.2889C>A (p.Ala963=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +1 more	GUncertain significance

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