ClinVar for MedGen (Select 1642659) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1601366	NM_001321967.2(ATAD1):c.657C>G (p.Leu219=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	ATAD1-related condition +2 more	GBenign/Likely benign
Select item 1496458	NM_001321967.2(ATAD1):c.767A>T (p.His256Leu)	ATAD1 (H137L +1 more)	Single nucleotide variant (missense variant +2 more)	Hyperekplexia 4 +2 more	GUncertain significance
Select item 1364221	NM_001321967.2(ATAD1):c.121A>G (p.Ile41Val)	ATAD1 (I41V)	Single nucleotide variant (missense variant +2 more)	Hyperekplexia 4 +2 more	GUncertain significance
Select item 545497	NM_001321967.2(ATAD1):c.162G>C (p.Gln54His)	ATAD1 (Q54H)	Single nucleotide variant (missense variant +2 more)	Hyperekplexia 4	GUncertain significance
Select item 545496	NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)	ATAD1 (H238fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 545495	NM_001321967.2(ATAD1):c.826G>T (p.Glu276Ter)	ATAD1 (E276* +2 more)	Single nucleotide variant (nonsense +1 more)	Hyperekplexia 4 +1 more	GPathogenic/Likely pathogenic

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