TEKTL1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2285277	NM_173482.3(TEKTL1):c.247A>G (p.Thr83Ala)	TEKTL1 (T83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340996	NM_173482.3(TEKTL1):c.329C>A (p.Pro110Gln)	TEKTL1 (P110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306884	NM_173482.3(TEKTL1):c.398C>T (p.Ala133Val)	TEKTL1 (A133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243541	NM_173482.3(TEKTL1):c.511G>A (p.Gly171Ser)	TEKTL1 (G171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320747	NM_173482.3(TEKTL1):c.533G>T (p.Ser178Ile)	TEKTL1 (S178I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	LOC130063834, LOC130063835 +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2264801	NM_173482.3(TEKTL1):c.709T>C (p.Cys237Arg)	TEKTL1 (C237R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384116	NM_173482.3(TEKTL1):c.712T>C (p.Phe238Leu)	TEKTL1 (F238L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294172	NM_173482.3(TEKTL1):c.722G>A (p.Arg241Gln)	TEKTL1 (R241Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382399	NM_173482.3(TEKTL1):c.779G>C (p.Arg260Thr)	TEKTL1 (R260T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238202	NM_173482.3(TEKTL1):c.1280C>T (p.Thr427Met)	TEKTL1 (T427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326849	NM_173482.3(TEKTL1):c.1361A>T (p.His454Leu)	TEKTL1 (H454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 24