"Revvity Omics, Revvity"[submitter] AND "ABCD4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587476	NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)	ABCD4 (T449M +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2438772	NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)	ABCD4 (R179W +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 932674	NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)	ABCD4 (T284M +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 390396	NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)	ABCD4 (G365C +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 574740	NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)	ABCD4 (R136W +1 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1432158	NM_005050.4(ABCD4):c.362G>A (p.Arg121His)	ABCD4 (R121H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance

ClinVar