"GeneDx"[submitter] AND "LOC126861365"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	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 1228126	NM_005422.4(TECTA):c.2368-135T>G	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227994	NM_005422.4(TECTA):c.2418G>A (p.Leu806=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 1310424	NM_005422.4(TECTA):c.2429G>T (p.Arg810Leu)	TECTA, LOC126861365 +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)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GConflicting classifications of pathogenicity
Select item 681870	NM_005422.4(TECTA):c.2496A>G (p.Leu832=)	LOC126861365, TBCEL-TECTA +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)	Inborn genetic diseases +1 more	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 452349	NM_005422.4(TECTA):c.2544G>A (p.Leu848=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	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 229294	NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys)	LOC126861365, TBCEL-TECTA +1 more (E859K +1 more)	Single nucleotide variant (missense variant)	not specified +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 227996	NM_005422.4(TECTA):c.2604G>T (p.Thr868=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 229296	NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)	TECTA, TBCEL-TECTA +1 more (N886S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3365531	NM_005422.4(TECTA):c.2672A>G (p.Asp891Gly)	LOC126861365, TBCEL-TECTA +1 more (D1210G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877662	NM_005422.4(TECTA):c.2674C>A (p.Leu892Met)	LOC126861365, TBCEL-TECTA +1 more (L892M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 667169	NM_005422.4(TECTA):c.2700G>A (p.Ser900=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1197840	NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys)	TBCEL-TECTA, TECTA +1 more (R1228C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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	GConflicting classifications of pathogenicity
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)	not provided	GUncertain significance
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 806752	NM_005422.4(TECTA):c.2793C>T (p.Asn931=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45322	NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)	LOC126861365, TBCEL-TECTA +1 more (V932A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 165358	NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)	LOC126861365, TBCEL-TECTA +1 more (L943M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 667170	NM_005422.4(TECTA):c.2886C>T (p.Ser962=)	TECTA, LOC126861365 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1303344	NM_005422.4(TECTA):c.2890T>G (p.Cys964Gly)	LOC126861365, TBCEL-TECTA +1 more (C1283G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663030	NM_005422.4(TECTA):c.2900C>T (p.Ala967Val)	LOC126861365, TBCEL-TECTA +1 more (A1286V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7015	NM_005422.4(TECTA):c.2941+1G>A	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1237592	NM_005422.4(TECTA):c.2941+119T>C	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 36