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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033981	NM_003193.5(TBCE):c.71G>A (p.Arg24His)	TBCE (R24H)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, progressive, with amyotrophy and optic atrophy +3 more	GUncertain significance
Select item 1030640	NM_003193.5(TBCE):c.527A>T (p.Asp176Val)	TBCE (D63V +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, with amyotrophy and optic atrophy	GUncertain significance
Select item 1030641	NM_003193.5(TBCE):c.529C>A (p.Gln177Lys)	TBCE (Q177K +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, with amyotrophy and optic atrophy	GUncertain significance
Select item 1033980	NM_003193.5(TBCE):c.1189G>A (p.Gly397Ser)	TBCE (G397S +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, with amyotrophy and optic atrophy +1 more	GUncertain significance
Select item 625534	GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)	ACTN2, ARID4B +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 625533	GRCh37/hg19 1q42.3-43(chr1:234742890-239475761)	ACTN2, ARID4B +19 more	Copy number loss	not provided	GPathogenic

ClinVar