ClinVar for Gene (Select 9524) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068819	NM_138501.6(TECR):c.489G>A (p.Lys163=)	TECR	Single nucleotide variant (synonymous 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 3059960	NM_138501.6(TECR):c.754-6C>T	TECR	Single nucleotide variant (intron variant)	TECR-related condition	GLikely benign
Select item 3051115	NM_138501.6(TECR):c.67-5C>T	TECR	Single nucleotide variant (intron variant)	TECR-related condition	GLikely benign
Select item 3048317	NM_138501.6(TECR):c.926G>A (p.Ter309=)	TECR	Single nucleotide variant (synonymous variant)	TECR-related condition	GLikely benign
Select item 2691607	NM_138501.6(TECR):c.384-15G>A	TECR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2626883	NM_138501.6(TECR):c.800-3C>T	TECR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2570229	NM_138501.6(TECR):c.497C>T (p.Thr166Ile)	TECR (T181I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402204	NM_138501.6(TECR):c.566A>G (p.Tyr189Cys)	TECR (Y204C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340786	NM_138501.6(TECR):c.680A>G (p.Lys227Arg)	TECR (K242R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260047	NM_138501.6(TECR):c.898C>T (p.Arg300Cys)	TECR (R300C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249686	NM_138501.6(TECR):c.571G>A (p.Ala191Thr)	TECR (A206T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245049	NM_138501.6(TECR):c.791G>C (p.Cys264Ser)	TECR (C264S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764160	NM_138501.6(TECR):c.864C>T (p.Ser288=)	TECR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1759092	NM_138501.6(TECR):c.747C>A (p.Thr249=)	TECR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 1298746	NM_138501.6(TECR):c.490-8C>A	TECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1029131	NM_138501.6(TECR):c.161C>G (p.Pro54Arg)	TECR (P54R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 14	GUncertain significance
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 739108	NM_138501.6(TECR):c.799+10C>T	TECR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733840	NM_138501.6(TECR):c.774C>T (p.Phe258=)	TECR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 436974	NM_138501.6(TECR):c.606+8G>A	TECR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 436973	NM_138501.6(TECR):c.552C>T (p.Tyr184=)	TECR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 436972	NM_138501.6(TECR):c.117C>T (p.Thr39=)	TECR	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 436971	NM_138501.6(TECR):c.30C>T (p.Asp10=)	TECR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 436970	NM_138501.6(TECR):c.15+10G>A	DNAJB1, TECR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 436969	NM_138501.6(TECR):c.15+6_15+8del	DNAJB1, TECR	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic
Select item 395074	GRCh37/hg19 19p13.12(chr19:14674870-14693947)x3	CLEC17A, NDUFB7 +1 more	Copy number gain	See cases	GLikely benign
Select item 376921	NM_138501.6(TECR):c.262G>T (p.Val88Leu)	TECR (V88L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 212397	NM_138501.6(TECR):c.873G>A (p.Lys291=)	TECR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 212396	NM_138501.6(TECR):c.813C>T (p.Ser271=)	TECR	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 212395	NM_138501.6(TECR):c.606+7A>C	TECR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 212394	NM_138501.6(TECR):c.177G>A (p.Leu59=)	TECR	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 212393	NM_138501.6(TECR):c.16-15G>A	TECR	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 14 +2 more	GLikely benign
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	ADGRE2, ADGRE3 +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 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRL1, ADGRL1-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	LOC126862869, LOC126862870 +41 more	Copy number gain	See cases	GUncertain significance
Select item 130583	NM_138501.6(TECR):c.822C>T (p.Gly274=)	TECR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 130582	NM_138501.6(TECR):c.799+6C>T	TECR	Single nucleotide variant (intron variant)	TECR-related condition	GBenign
Select item 130581	NM_138501.6(TECR):c.618C>T (p.Leu206=)	TECR	Single nucleotide variant (synonymous variant)	TECR-related condition	GBenign
Select item 130580	NM_138501.6(TECR):c.462C>A (p.Gly154=)	TECR	Single nucleotide variant (synonymous variant)	TECR-related condition	GBenign
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 30810	NM_138501.6(TECR):c.545C>T (p.Pro182Leu)	TECR (P182L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 14	GPathogenic

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Links from Gene

Items: 53