"Revvity Omics, Revvity"[submitter] AND "TBCD"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 268173	NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)	TBCD (L229R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 732683	NM_005993.5(TBCD):c.1057G>A (p.Asp353Asn)	TBCD (D353N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2436968	NM_005993.5(TBCD):c.1318+23870C>T	TBCD, ZNF750	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1693373	NM_005993.5(TBCD):c.1327G>A (p.Val443Met)	TBCD (V443M)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 279953	NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr)	TBCD (A475T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GPathogenic
Select item 2436971	NM_005993.5(TBCD):c.1604A>C (p.Asp535Ala)	TBCD (D518A +1 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2436970	NM_005993.5(TBCD):c.1927G>A (p.Val643Ile)	TBCD (V616I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1372626	NM_005993.5(TBCD):c.2582C>T (p.Thr861Met)	TBCD (T861M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2436972	NM_005993.5(TBCD):c.2701_2718dup (p.Val906_Ala907insArgIleMetCysCysVal)	TBCD	Duplication (inframe_indel +1 more)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1985756	NM_005993.5(TBCD):c.2770G>A (p.Val924Met)	TBCD (V907M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2382541	NM_005993.5(TBCD):c.2780C>T (p.Thr927Met)	TBCD (T900M +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 2436967	NM_005993.5(TBCD):c.2804C>G (p.Pro935Arg)	TBCD (P908R +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2633532	NM_005993.5(TBCD):c.2983del (p.Glu995fs)	TBCD (E968fs +2 more)	Deletion (frameshift variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GLikely pathogenic
Select item 1580600	NM_005993.5(TBCD):c.2991+8G>A	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2436969	NM_005993.5(TBCD):c.3121G>A (p.Val1041Met)	TBCD (V1014M +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 976674	NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)	TBCD (G1103S)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GConflicting classifications of pathogenicity
Select item 1632424	NM_005993.5(TBCD):c.3447C>T (p.Asp1149=)	TBCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2078923	NM_005993.5(TBCD):c.3483C>T (p.Asp1161=)	TBCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1516885	NM_005993.5(TBCD):c.3550C>T (p.Gln1184Ter)	TBCD (Q1184*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance

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Items: 22