"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137447	NM_021167.5(GATAD1):c.48G>A (p.Ser16=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +2 more	GBenign/Likely benign
Select item 45828	NM_021167.5(GATAD1):c.558G>A (p.Thr186=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 137448	NM_021167.5(GATAD1):c.762G>A (p.Gly254=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +3 more	GBenign/Likely benign
Select item 286992	NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +1 more	GBenign/Likely benign
Select item 596889	NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)	PEX1, GATAD1	Deletion (inframe_deletion)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 291261	NM_000466.3(PEX1):c.2926+8T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	PEX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 93109	NM_000466.3(PEX1):c.2901G>A (p.Gln967=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

ClinVar