ClinVar for Gene (Select 126402) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325281	NM_173482.3(TEKTL1):c.304C>T (p.Pro102Ser)	TEKTL1 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325280	NM_173482.3(TEKTL1):c.763G>A (p.Val255Ile)	TEKTL1 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235542	NM_173482.3(TEKTL1):c.866A>G (p.Tyr289Cys)	TEKTL1 (Y289C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235541	NM_173482.3(TEKTL1):c.821G>A (p.Arg274His)	TEKTL1 (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235540	NM_173482.3(TEKTL1):c.820C>T (p.Arg274Cys)	TEKTL1 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235539	NM_173482.3(TEKTL1):c.809C>G (p.Ala270Gly)	TEKTL1 (A270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235538	NM_173482.3(TEKTL1):c.751C>T (p.Pro251Ser)	TEKTL1 (P251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235537	NM_173482.3(TEKTL1):c.605A>G (p.Glu202Gly)	TEKTL1 (E202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235536	NM_173482.3(TEKTL1):c.604G>C (p.Glu202Gln)	TEKTL1 (E202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235535	NM_173482.3(TEKTL1):c.544C>T (p.Arg182Trp)	TEKTL1 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235533	NM_173482.3(TEKTL1):c.511G>C (p.Gly171Arg)	TEKTL1 (G171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235532	NM_173482.3(TEKTL1):c.415C>T (p.Arg139Cys)	TEKTL1 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235531	NM_173482.3(TEKTL1):c.370G>C (p.Glu124Gln)	TEKTL1 (E124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235530	NM_173482.3(TEKTL1):c.343C>G (p.Arg115Gly)	TEKTL1 (R115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235529	NM_173482.3(TEKTL1):c.343C>A (p.Arg115Ser)	TEKTL1 (R115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235528	NM_173482.3(TEKTL1):c.342C>A (p.His114Gln)	TEKTL1 (H114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235527	NM_173482.3(TEKTL1):c.203T>A (p.Ile68Asn)	TEKTL1 (I68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235526	NM_173482.3(TEKTL1):c.171C>G (p.Asn57Lys)	TEKTL1 (N57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235525	NM_173482.3(TEKTL1):c.1468C>T (p.Pro490Ser)	TEKTL1 (P490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235524	NM_173482.3(TEKTL1):c.1435C>A (p.Arg479Ser)	TEKTL1 (R479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235523	NM_173482.3(TEKTL1):c.1367T>C (p.Val456Ala)	TEKTL1 (V456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235522	NM_173482.3(TEKTL1):c.1354A>G (p.Ile452Val)	TEKTL1 (I452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235521	NM_173482.3(TEKTL1):c.1345T>G (p.Cys449Gly)	TEKTL1 (C449G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235520	NM_173482.3(TEKTL1):c.1330A>G (p.Ser444Gly)	TEKTL1 (S444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235519	NM_173482.3(TEKTL1):c.1301A>T (p.Asp434Val)	TEKTL1 (D434V)	Single nucleotide variant (missense variant)	not specified	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 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2384116	NM_173482.3(TEKTL1):c.712T>C (p.Phe238Leu)	TEKTL1 (F238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382399	NM_173482.3(TEKTL1):c.779G>C (p.Arg260Thr)	TEKTL1 (R260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340996	NM_173482.3(TEKTL1):c.329C>A (p.Pro110Gln)	TEKTL1 (P110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326849	NM_173482.3(TEKTL1):c.1361A>T (p.His454Leu)	TEKTL1 (H454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320747	NM_173482.3(TEKTL1):c.533G>T (p.Ser178Ile)	TEKTL1 (S178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306884	NM_173482.3(TEKTL1):c.398C>T (p.Ala133Val)	TEKTL1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294172	NM_173482.3(TEKTL1):c.722G>A (p.Arg241Gln)	TEKTL1 (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285277	NM_173482.3(TEKTL1):c.247A>G (p.Thr83Ala)	TEKTL1 (T83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264801	NM_173482.3(TEKTL1):c.709T>C (p.Cys237Arg)	TEKTL1 (C237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243541	NM_173482.3(TEKTL1):c.511G>A (p.Gly171Ser)	TEKTL1 (G171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238202	NM_173482.3(TEKTL1):c.1280C>T (p.Thr427Met)	TEKTL1 (T427M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
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 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
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 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52