"Baylor Genetics"[submitter] AND "TBCD"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028460	NM_005993.5(TBCD):c.29G>A (p.Gly10Asp)	TBCD (G10D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1028461	NM_005993.5(TBCD):c.320A>G (p.Tyr107Cys)	TBCD (Y107C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2582324	NM_005993.5(TBCD):c.345_346del (p.Tyr115_Lys116delinsTer)	TBCD	Microsatellite (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 1034238	NM_005993.5(TBCD):c.390G>C (p.Glu130Asp)	TBCD (E130D)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 692021	NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)	TBCD (R323*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1030989	NM_005993.5(TBCD):c.1126G>A (p.Val376Met)	TBCD (V376M)	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 1034234	NM_005993.5(TBCD):c.1324G>A (p.Ala442Thr)	TBCD (A442T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 392122	NM_005993.5(TBCD):c.1615G>A (p.Val539Ile)	TBCD (V539I)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more	GUncertain significance
Select item 801003	NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)	TBCD (K571R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030991	NM_005993.5(TBCD):c.1957C>T (p.Gln653Ter)	TBCD (Q653*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 1034235	NM_005993.5(TBCD):c.2239G>A (p.Glu747Lys)	TBCD (E747K)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1034236	NM_005993.5(TBCD):c.2273C>T (p.Thr758Met)	TBCD (T758M)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 268167	NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	TBCD (R772C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 1034237	NM_005993.5(TBCD):c.2429G>C (p.Ser810Thr)	TBCD (S810T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030993	NM_005993.5(TBCD):c.2464A>G (p.Ile822Val)	TBCD (I822V)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 723059	NM_005993.5(TBCD):c.2566A>G (p.Met856Val)	TBCD (M856V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030994	NM_005993.5(TBCD):c.2579C>T (p.Thr860Ile)	TBCD (T860I)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030995	NM_005993.5(TBCD):c.2690A>G (p.His897Arg)	TBCD (H897R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030996	NM_005993.5(TBCD):c.2764G>A (p.Ala922Thr)	TBCD (A922T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1028462	NM_005993.5(TBCD):c.3511C>T (p.Arg1171Cys)	TBCD (R1171C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028463	NM_005993.5(TBCD):c.3512G>T (p.Arg1171Leu)	TBCD (R1171L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028464	NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile)	TBCD (V1180I)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance

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Items: 24