"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806241	NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)	TAFAZZIN (L50Q +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 177794	NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	TAFAZZIN (G116D +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2500766	NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)	TAFAZZIN (F148I +3 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 11103	NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	TAFAZZIN (W164fs +1 more)	Duplication (frameshift variant +2 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 202096	NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)	TAFAZZIN (E255K +4 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +2 more	GUncertain significance
Select item 1722764	GRCh37/hg19 Xq28(chrX:153560562-153864851)x3	CTAG1A, CTAG1B +15 more	Copy number gain	Septo-optic dysplasia sequence	GLikely pathogenic

ClinVar