"Baylor Genetics"[submitter] AND "TALDO1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306127	NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)	TALDO1 (L61V)	Single nucleotide variant (missense variant)	Deficiency of transaldolase +1 more	GUncertain significance
Select item 306129	NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)	TALDO1 (K98M)	Single nucleotide variant (missense variant)	Deficiency of transaldolase	GUncertain significance
Select item 1034304	NM_006755.2(TALDO1):c.330-10_330delinsAGA	TALDO1	Indel (splice acceptor variant)	Deficiency of transaldolase	GUncertain significance
Select item 381759	NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)	LOC126861110, TALDO1 (R192C)	Single nucleotide variant (missense variant)	Deficiency of transaldolase +1 more	GPathogenic
Select item 162622	NM_006755.2(TALDO1):c.793del (p.Gln265fs)	TALDO1 (Q265fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1028548	NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)	TALDO1 (W296*)	Single nucleotide variant (nonsense)	Deficiency of transaldolase	GUncertain significance
Select item 1028549	NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)	TALDO1 (E328K)	Single nucleotide variant (missense variant)	Deficiency of transaldolase	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic

ClinVar