TBCD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	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 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	B3GNTL1, CCDC57 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 153487	GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3	CYBC1, FN3K +54 more	Copy number gain	See cases	GUncertain significance
Select item 146404	GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3	B3GNTL1, FN3K +48 more	Copy number gain	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 151145	GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1	B3GNTL1, FN3K +40 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 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	FN3K, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 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 153662	GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1	B3GNTL1, FN3K +35 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 1049447	NC_000017.11:g.82751577_82751580C[5]GCCCCC[1]	LOC130062061, TBCD	Microsatellite	not provided	GUncertain significance
Select item 1236292	NC_000017.11:g.82751954C>T	TBCD	Single nucleotide variant	not provided	GBenign
Select item 1259319	NM_005993.5(TBCD):c.-33del	TBCD	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 2648499	NM_005993.5(TBCD):c.-6G>T	TBCD	Single nucleotide variant (5 prime UTR variant)	TBCD-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1366937	NM_005993.5(TBCD):c.5C>T (p.Ala2Val)	TBCD (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982100	NM_005993.5(TBCD):c.7C>T (p.Leu3=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918302	NM_005993.5(TBCD):c.9G>C (p.Leu3=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805370	NM_005993.5(TBCD):c.10A>T (p.Ser4Cys)	TBCD (S4C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2716645	NM_005993.5(TBCD):c.16G>T (p.Glu6Ter)	TBCD (E6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2773217	NM_005993.5(TBCD):c.18A>G (p.Glu6=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965653	NM_005993.5(TBCD):c.21G>A (p.Pro7=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760625	NM_005993.5(TBCD):c.27G>A (p.Ala9=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753842	NM_005993.5(TBCD):c.29del (p.Gly10fs)	TBCD (G10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1167727	NM_005993.5(TBCD):c.28G>T (p.Gly10Cys)	TBCD (G10C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1028460	NM_005993.5(TBCD):c.29G>A (p.Gly10Asp)	TBCD (G10D)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1570656	NM_005993.5(TBCD):c.30C>T (p.Gly10=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 762032	NM_005993.5(TBCD):c.36C>G (p.Pro12=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470127	NM_005993.5(TBCD):c.38AGG[2] (p.Glu15del)	TBCD (E15del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2779055	NM_005993.5(TBCD):c.42G>A (p.Glu14=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725130	NM_005993.5(TBCD):c.48G>A (p.Ala16=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831020	NM_005993.5(TBCD):c.51G>A (p.Glu17=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816871	NM_005993.5(TBCD):c.54C>T (p.Asp18=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306470	NM_005993.5(TBCD):c.54C>G (p.Asp18Glu)	TBCD (D18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2906895	NM_005993.5(TBCD):c.57G>A (p.Glu19=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852707	NM_005993.5(TBCD):c.60A>T (p.Thr20=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733629	NM_005993.5(TBCD):c.61C>T (p.Leu21=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962668	NM_005993.5(TBCD):c.66C>T (p.Ala22=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975949	NM_005993.5(TBCD):c.72C>A (p.Gly24=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968637	NM_005993.5(TBCD):c.72C>T (p.Gly24=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895619	NM_005993.5(TBCD):c.82G>A (p.Glu28Lys)	TBCD (E28K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2978975	NM_005993.5(TBCD):c.84A>G (p.Glu28=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422305	NM_005993.5(TBCD):c.92G>A (p.Gly31Asp)	TBCD (G31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914846	NM_005993.5(TBCD):c.99C>T (p.Ser33=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817442	NM_005993.5(TBCD):c.108C>G (p.Thr36=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517461	NM_005993.5(TBCD):c.110G>A (p.Arg37Gln)	TBCD (R37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2890755	NM_005993.5(TBCD):c.111G>A (p.Arg37=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564131	NM_005993.5(TBCD):c.115C>G (p.Leu39Val)	LOC130062062, TBCD (L39V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1606095	NM_005993.5(TBCD):c.117G>A (p.Leu39=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970632	NM_005993.5(TBCD):c.118C>T (p.Leu40=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966786	NM_005993.5(TBCD):c.120G>C (p.Leu40=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899527	NM_005993.5(TBCD):c.123C>T (p.Gly41=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2898981	NM_005993.5(TBCD):c.127C>T (p.Leu43=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498696	NM_005993.5(TBCD):c.127C>A (p.Leu43Met)	LOC130062062, TBCD (L43M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030990	NM_005993.5(TBCD):c.131G>C (p.Arg44Pro)	LOC130062062, TBCD (R44P)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 748392	NM_005993.5(TBCD):c.135G>A (p.Glu45=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2748669	NM_005993.5(TBCD):c.138G>T (p.Val46=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413705	NM_005993.5(TBCD):c.139C>T (p.His47Tyr)	LOC130062062, TBCD (H47Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578878	NM_005993.5(TBCD):c.141C>T (p.His47=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988616	NM_005993.5(TBCD):c.144C>T (p.Gly48=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868853	NM_005993.5(TBCD):c.144C>A (p.Gly48=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690221	NM_005993.5(TBCD):c.146G>C (p.Gly49Ala)	LOC130062062, TBCD (G49A)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2776803	NM_005993.5(TBCD):c.160G>T (p.Glu54Ter)	LOC130062062, TBCD (E54*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2704471	NM_005993.5(TBCD):c.162G>A (p.Glu54=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172152	NM_005993.5(TBCD):c.168C>T (p.Ala56=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 445490	NM_005993.5(TBCD):c.176G>A (p.Arg59Gln)	LOC130062062, TBCD (R59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962145	NM_005993.5(TBCD):c.180C>T (p.Phe60=)	LOC130062062, TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186364	NM_005993.5(TBCD):c.184+8_184+21del	LOC130062062, TBCD	Deletion (intron variant)	not provided	GLikely benign
Select item 2874664	NM_005993.5(TBCD):c.184+7G>A	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960831	NM_005993.5(TBCD):c.184+9G>C	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007398	NM_005993.5(TBCD):c.184+11G>T	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692629	NM_005993.5(TBCD):c.184+13C>T	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674147	NM_005993.5(TBCD):c.184+14G>A	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1913136	NM_005993.5(TBCD):c.184+18C>T	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728265	NM_005993.5(TBCD):c.184+19G>C	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018360	NM_005993.5(TBCD):c.184+19G>A	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252457	NM_005993.5(TBCD):c.184+25G>C	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2787909	NM_005993.5(TBCD):c.185-18T>C	TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817716	NM_005993.5(TBCD):c.185-17G>A	TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963539	NM_005993.5(TBCD):c.185-13T>C	TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792994	NM_005993.5(TBCD):c.185-12A>G	TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966237	NM_005993.5(TBCD):c.186A>G (p.Val62=)	TBCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562926	NM_005993.5(TBCD):c.195C>T (p.Asp65=)	TBCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742949	NM_005993.5(TBCD):c.210G>A (p.Gln70=)	TBCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1030992	NM_005993.5(TBCD):c.214C>T (p.His72Tyr)	TBCD (H72Y)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2829796	NM_005993.5(TBCD):c.219G>C (p.Leu73=)	TBCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828461	NM_005993.5(TBCD):c.225C>T (p.Asp75=)	TBCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2429433	NM_005993.5(TBCD):c.227C>T (p.Pro76Leu)	TBCD (P76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846581	NM_005993.5(TBCD):c.228G>A (p.Pro76=)	TBCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 624104	NM_005993.5(TBCD):c.230A>G (p.His77Arg)	TBCD (H77R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2778064	NM_005993.5(TBCD):c.235+8T>C	TBCD	Single nucleotide variant (intron variant)	not provided	GLikely benign

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