C0162309[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1444548	NM_000033.4(ABCD1):c.102del (p.Leu35fs)	ABCD1 (L35fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic/Likely pathogenic
Select item 11299	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	ABCD1 (G266R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic
Select item 1210345	NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)	ABCD1 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1339238	NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)	ABCD1 (Q311*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GPathogenic/Likely pathogenic
Select item 11300	NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	ABCD1 (R401Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 3024112	NM_000033.4(ABCD1):c.1508del (p.Leu503fs)	ABCD1 (L503fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 166625	NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)	ABCD1 (R554H)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 585302	NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	ABCD1 (R660W)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic

ClinVar