C5567454[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167727	NM_005993.5(TBCD):c.28G>T (p.Gly10Cys)	TBCD (G10C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1265397	NM_005993.5(TBCD):c.1319-43G>A	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266366	NM_005993.5(TBCD):c.1475+25C>T	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167401	NM_005993.5(TBCD):c.1850T>C (p.Met617Thr)	TBCD (M617T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1273381	NM_005993.5(TBCD):c.2038+41C>G	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	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 1243104	NM_005993.5(TBCD):c.2853-44G>A	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167402	NM_005993.5(TBCD):c.2859T>C (p.Asp953=)	TBCD	Single nucleotide variant (synonymous variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1258578	NM_005993.5(TBCD):c.3191+27T>C	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170179	NM_005993.5(TBCD):c.3281+17G>A	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167403	NM_005993.5(TBCD):c.3290A>G (p.Glu1097Gly)	TBCD (E1097G)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1167404	NM_005993.5(TBCD):c.3486G>A (p.Ala1162=)	TBCD	Single nucleotide variant (synonymous variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign