C3553915[trait identifier] AND "Institute of Human Genetics Munich, Kl - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976682	NM_005050.4(ABCD4):c.719+2T>G	ABCD4	Single nucleotide variant (splice donor variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely pathogenic
Select item 976683	NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)	ABCD4 (G186R +3 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GConflicting classifications of pathogenicity