TECTA[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1151

<< First< Prev

Page of 12

	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 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +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	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +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	ABCG4, ACAD8 +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 1296878	NM_005422.4(TECTA):c.-1-310A>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209193	NM_005422.4(TECTA):c.-1-100C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244654	NM_005422.4(TECTA):c.-1-78A>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227093	NM_005422.4(TECTA):c.-1-12T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive +3 more	GBenign/Likely benign
Select item 3075938	NM_005422.4(TECTA):c.12dup (p.Ser5fs)	TBCEL-TECTA, TECTA (S324fs +1 more)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2631677	NM_005422.4(TECTA):c.25del (p.Ile9fs)	TBCEL-TECTA, TECTA (I328fs +1 more)	Deletion (frameshift variant)	TECTA-related disorder	GLikely pathogenic
Select item 689604	NM_005422.4(TECTA):c.29G>C (p.Trp10Ser)	TBCEL-TECTA, TECTA (W10S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GLikely benign
Select item 667166	NM_005422.4(TECTA):c.33C>A (p.Val11=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 1702948	NM_005422.4(TECTA):c.36T>G (p.Ser12=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21	GUncertain significance
Select item 1189299	NM_005422.4(TECTA):c.45C>T (p.Phe15=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3325240	NM_005422.4(TECTA):c.46G>A (p.Ala16Thr)	TBCEL-TECTA, TECTA (A16T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313097	NM_005422.4(TECTA):c.47C>T (p.Ala16Val)	TBCEL-TECTA, TECTA (A16V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45339	NM_005422.4(TECTA):c.56A>G (p.Gln19Arg)	TBCEL-TECTA, TECTA (Q19R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1194220	NM_005422.4(TECTA):c.64+26C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283274	NM_005422.4(TECTA):c.64+78C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213091	NM_005422.4(TECTA):c.65-331A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229784	NM_005422.4(TECTA):c.65-229A>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228332	NM_005422.4(TECTA):c.65-127G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287175	NM_005422.4(TECTA):c.65-112A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196730	NM_005422.4(TECTA):c.65-80G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987976	NM_005422.4(TECTA):c.65-19C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 179842	NM_005422.4(TECTA):c.65-14A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 2539010	NM_005422.4(TECTA):c.74G>C (p.Arg25Thr)	TBCEL-TECTA, TECTA (R25T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 302989	NM_005422.4(TECTA):c.80T>C (p.Leu27Pro)	TBCEL-TECTA, TECTA (L27P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +2 more	GUncertain significance
Select item 2614647	NM_005422.4(TECTA):c.84G>A (p.Met28Ile)	TBCEL-TECTA, TECTA (M347I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667171	NM_005422.4(TECTA):c.90A>T (p.Pro30=)	TECTA, TBCEL-TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1329694	NM_005422.4(TECTA):c.102del (p.Asn34fs)	TBCEL-TECTA, TECTA (N34fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 12 +2 more	GPathogenic/Likely pathogenic
Select item 2501579	NM_005422.4(TECTA):c.113C>T (p.Thr38Ile)	TBCEL-TECTA, TECTA (T357I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175656	NM_005422.4(TECTA):c.122T>C (p.Val41Ala)	TBCEL-TECTA, TECTA (V360A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3377233	NM_005422.4(TECTA):c.126T>A (p.Asp42Glu)	TBCEL-TECTA, TECTA (D361E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 2581039	NM_005422.4(TECTA):c.140C>G (p.Ser47Cys)	TBCEL-TECTA, TECTA (S366C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 2855747	NM_005422.4(TECTA):c.141T>A (p.Ser47=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622086	NM_005422.4(TECTA):c.160C>G (p.Pro54Ala)	TBCEL-TECTA, TECTA (P373A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1620183	NM_005422.4(TECTA):c.186C>T (p.Tyr62=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 229292	NM_005422.4(TECTA):c.187C>T (p.Arg63Cys)	TBCEL-TECTA, TECTA (R63C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 758236	NM_005422.4(TECTA):c.192T>C (p.Thr64=)	TECTA, TBCEL-TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1214171	NM_005422.4(TECTA):c.198+34G>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218203	NM_005422.4(TECTA):c.199-304G>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198299	NM_005422.4(TECTA):c.199-79C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759787	NM_005422.4(TECTA):c.199-12T>C	TECTA, TBCEL-TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3233502	NM_005422.4(TECTA):c.199-10A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3354034	NM_005422.4(TECTA):c.199-5C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder	GLikely benign
Select item 929982	NM_005422.4(TECTA):c.199-4G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3051930	NM_005422.4(TECTA):c.199-3T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder	GLikely benign
Select item 2716911	NM_005422.4(TECTA):c.199G>C (p.Val67Leu)	TBCEL-TECTA, TECTA (V386L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530085	NM_005422.4(TECTA):c.210C>T (p.Asn70=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3383142	NM_005422.4(TECTA):c.211G>A (p.Gly71Arg)	TBCEL-TECTA, TECTA (G390R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21	GUncertain significance
Select item 2617455	NM_005422.4(TECTA):c.227A>G (p.Asn76Ser)	TBCEL-TECTA, TECTA (N76S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1213490	NM_005422.4(TECTA):c.229G>T (p.Val77Leu)	TBCEL-TECTA, TECTA (V396L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490311	NM_005422.4(TECTA):c.230T>C (p.Val77Ala)	TBCEL-TECTA, TECTA (V396A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574978	NM_005422.4(TECTA):c.232C>G (p.Leu78Val)	TBCEL-TECTA, TECTA (L397V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45320	NM_005422.4(TECTA):c.240C>T (p.Ser80=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 813831	NM_005422.4(TECTA):c.248C>T (p.Thr83Met)	TBCEL-TECTA, TECTA (T83M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044928	NM_005422.4(TECTA):c.249G>A (p.Thr83=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 3248562	NM_005422.4(TECTA):c.260T>G (p.Phe87Cys)	TBCEL-TECTA, TECTA (F406C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 2446207	NM_005422.4(TECTA):c.275_286del (p.Gly92_Phe95del)	TBCEL-TECTA, TECTA	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3378287	NM_005422.4(TECTA):c.286G>A (p.Val96Ile)	TBCEL-TECTA, TECTA (V415I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712278	NM_005422.4(TECTA):c.286G>C (p.Val96Leu)	TBCEL-TECTA, TECTA (V415L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21	GUncertain significance
Select item 1930246	NM_005422.4(TECTA):c.288C>T (p.Val96=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347029	NM_005422.4(TECTA):c.298T>C (p.Trp100Arg)	TBCEL-TECTA, TECTA (W100R +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 3347485	NM_005422.4(TECTA):c.304G>A (p.Asp102Asn)	TBCEL-TECTA, TECTA (D102N +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 1065007	NM_005422.4(TECTA):c.314A>G (p.Asn105Ser)	TBCEL-TECTA, TECTA (N105S +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1703368	NM_005422.4(TECTA):c.323G>A (p.Arg108Gln)	TBCEL-TECTA, TECTA (R108Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179381	NM_005422.4(TECTA):c.327C>T (p.Gly109=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 286513	NM_005422.4(TECTA):c.336T>C (p.Tyr112=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2909868	NM_005422.4(TECTA):c.349A>G (p.Met117Val)	TBCEL-TECTA, TECTA (M117V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2093695	NM_005422.4(TECTA):c.354del (p.Glu118fs)	TBCEL-TECTA, TECTA (E437fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2963446	NM_005422.4(TECTA):c.355C>T (p.Pro119Ser)	TBCEL-TECTA, TECTA (P119S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1307773	NM_005422.4(TECTA):c.355C>A (p.Pro119Thr)	TBCEL-TECTA, TECTA (P119T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930098	NM_005422.4(TECTA):c.358G>T (p.Ala120Ser)	TBCEL-TECTA, TECTA (A439S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2762909	NM_005422.4(TECTA):c.366G>A (p.Leu122=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880299	NM_005422.4(TECTA):c.377C>T (p.Thr126Ile)	TBCEL-TECTA, TECTA (T126I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 880300	NM_005422.4(TECTA):c.420T>C (p.Ser140=)	TECTA, TBCEL-TECTA	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 666932	NM_005422.4(TECTA):c.430G>A (p.Val144Ile)	TBCEL-TECTA, TECTA (V144I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807530	NM_005422.4(TECTA):c.448G>C (p.Glu150Gln)	TBCEL-TECTA, TECTA (E150Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958419	NM_005422.4(TECTA):c.454G>C (p.Val152Leu)	TBCEL-TECTA, TECTA (V152L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 546450	NM_005422.4(TECTA):c.458C>T (p.Thr153Met)	TBCEL-TECTA, TECTA (T153M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2981432	NM_005422.4(TECTA):c.459G>A (p.Thr153=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347091	NM_005422.4(TECTA):c.470dup (p.Ser158fs)	TBCEL-TECTA, TECTA (S158fs +1 more)	Duplication (frameshift variant)	TECTA-related disorder	GLikely pathogenic
Select item 1507207	NM_005422.4(TECTA):c.470G>A (p.Gly157Asp)	TBCEL-TECTA, TECTA (G157D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111898	NM_005422.4(TECTA):c.480C>G (p.Thr160=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1248528	NM_005422.4(TECTA):c.486+249del	TECTA, TBCEL-TECTA	Deletion (intron variant)	not provided	GBenign

<< First< Prev

Page of 12