"Clinical Genetics, Academic Medical Center"[submitter] AND "ABCD1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368044	NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)	ABCD1 (N13T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 92329	NM_000033.4(ABCD1):c.901-16C>T	ABCD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 92315	NM_000033.4(ABCD1):c.1489-6del	ABCD1	Deletion (intron variant)	Adrenoleukodystrophy +2 more	GBenign/Likely benign
Select item 92316	NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +3 more	GBenign
Select item 166627	NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)	ABCD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 92313	NM_000033.4(ABCD1):c.*8G>C	ABCD1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign

ClinVar