"ATE1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059476	NM_001001976.3(ATE1):c.*8A>G	ATE1	Single nucleotide variant (3 prime UTR variant +1 more)	ATE1-related disorder	GBenign
Select item 3060412	NM_001001976.3(ATE1):c.1371A>C (p.Pro457=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GBenign
Select item 3060294	NM_001001976.3(ATE1):c.1236A>G (p.Ser412=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GBenign
Select item 3060051	NM_001001976.3(ATE1):c.1157+7T>C	ATE1	Single nucleotide variant (intron variant)	ATE1-related disorder	GBenign
Select item 3058116	NM_001001976.3(ATE1):c.1071C>T (p.Asp357=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 3037699	NM_001001976.3(ATE1):c.942+1004C>T	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 3036331	NM_001001976.3(ATE1):c.369T>A (p.Ala123=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 3059291	NM_001001976.3(ATE1):c.303A>G (p.Leu101=)	ATE1	Single nucleotide variant (synonymous variant +2 more)	ATE1-related disorder	GBenign
Select item 3061001	NM_001001976.3(ATE1):c.9C>T (p.Phe3=)	ATE1	Single nucleotide variant (synonymous variant +2 more)	ATE1-related disorder	GBenign

ClinVar