C5231463[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342228	NM_014698.3(TMEM63A):c.1378-49C>T	TMEM63A	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 19, transient infantile +1 more	GBenign
Select item 1342229	NM_014698.3(TMEM63A):c.1086-48del	TMEM63A	Deletion (intron variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GBenign
Select item 1342230	NM_014698.3(TMEM63A):c.507C>T (p.Asp169=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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