C4310671[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 268173	NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)	TBCD (L229R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 268175	NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln)	TBCD (R377Q)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268169	NM_005993.5(TBCD):c.1160T>G (p.Met387Arg)	TBCD (M387R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268166	NM_005993.5(TBCD):c.1564-12C>G	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268174	NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr)	TBCD (A626T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 268170	NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter)	TBCD (Y760*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 268168	NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr)	TBCD (A921T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268172	NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg)	TBCD (P937R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268171	NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)	TBCD (P1122L)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity