ClinVar for Gene (Select 126862673) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3004412	NM_005993.5(TBCD):c.2040G>C (p.Val680=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996916	NM_005993.5(TBCD):c.2064A>G (p.Ser688=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978748	NM_005993.5(TBCD):c.2101+8C>T	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961578	NM_005993.5(TBCD):c.2039-13T>A	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912086	NM_005993.5(TBCD):c.2039-10_2039-9insC	TBCD, LOC126862673	Insertion (intron variant)	not provided +1 more	GLikely benign
Select item 2894678	NM_005993.5(TBCD):c.2097A>C (p.Val699=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866319	NM_005993.5(TBCD):c.2079C>T (p.Pro693=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853290	NM_005993.5(TBCD):c.2039-4C>T	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848103	NM_005993.5(TBCD):c.2043T>C (p.Cys681=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798840	NM_005993.5(TBCD):c.2082T>C (p.Phe694=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785027	NM_005993.5(TBCD):c.2040G>T (p.Val680=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772367	NM_005993.5(TBCD):c.2039-17T>C	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711633	NM_005993.5(TBCD):c.2039-13_2039-12insG	LOC126862673, TBCD	Insertion (intron variant)	not provided	GLikely benign
Select item 2570653	NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)	LOC126862673, TBCD (P676T +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2066101	NM_005993.5(TBCD):c.2095G>A (p.Val699Ile)	LOC126862673, TBCD (V672I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1898257	NM_005993.5(TBCD):c.2091C>T (p.Asp697=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897347	NM_005993.5(TBCD):c.2101+13G>A	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539146	NM_005993.5(TBCD):c.2039-5T>C	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1345634	NM_005993.5(TBCD):c.2039-1G>A	LOC126862673, TBCD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1294984	NM_005993.5(TBCD):c.2039-5dup	LOC126862673, TBCD	Duplication (intron variant)	not provided	GBenign
Select item 1275421	NM_005993.5(TBCD):c.2101+178_2101+179del	LOC126862673, TBCD	Deletion (intron variant)	not provided	GBenign
Select item 1270321	NM_005993.5(TBCD):c.2101+175_2101+176del	LOC126862673, TBCD	Deletion (intron variant)	not provided	GBenign
Select item 1259332	NM_005993.5(TBCD):c.2101+114A>G	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251185	NM_005993.5(TBCD):c.2101+179C>T	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231926	NM_005993.5(TBCD):c.2039-43A>G	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224258	NM_005993.5(TBCD):c.2039-169G>C	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	FN3K, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 986373	NM_005993.5(TBCD):c.2100del (p.Ile700fs)	LOC126862673, TBCD (I700fs)	Deletion (frameshift variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 777263	NM_005993.5(TBCD):c.2039-3C>T	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 765013	NM_005993.5(TBCD):c.2083A>C (p.Arg695=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749274	NM_005993.5(TBCD):c.2094C>T (p.Thr698=)	LOC126862673, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624105	NM_005993.5(TBCD):c.2048_2052dup (p.Glu685Ter)	LOC126862673, TBCD (E685*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 154564	GRCh38/hg38 17q25.3(chr17:82911614-83048826)x1	B3GNTL1, LOC121852957 +3 more	Copy number loss	See cases	GUncertain significance
Select item 154076	GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 153662	GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 151496	GRCh38/hg38 17q25.3(chr17:82911614-83048767)x3	B3GNTL1, LOC121852957 +3 more	Copy number gain	See cases	GBenign
Select item 151145	GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1	B3GNTL1, FN3K +40 more	Copy number loss	See cases	GUncertain significance
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 149532	GRCh38/hg38 17q25.3(chr17:82884871-83102552)x1	B3GNTL1, LOC121852957 +5 more	Copy number loss	See cases	GUncertain significance
Select item 149274	GRCh38/hg38 17q25.3(chr17:82625521-83056395)x1	B3GNTL1, FN3K +31 more	Copy number loss	See cases	GUncertain significance
Select item 148397	GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1	B3GNTL1, FN3K +32 more	Copy number loss	See cases	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	B3GNTL1, CCDC57 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 146404	GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3	B3GNTL1, FN3K +48 more	Copy number gain	See cases	GUncertain significance
Select item 145627	GRCh38/hg38 17q25.3(chr17:82911614-83086677)x1	B3GNTL1, LOC121852957 +4 more	Copy number loss	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 more	Copy number loss	See cases	GUncertain significance
Select item 58300	GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 57460	GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 57371	GRCh38/hg38 17q25.3(chr17:82884871-83086677)x3	B3GNTL1, LOC121852957 +5 more	Copy number gain	See cases	GUncertain significance
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55