C0162309[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644432	NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)	ABCD1 (A170T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1724026	NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)	ABCD1 (N318fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 1726535	NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)	ABCD1 (P350fs)	Indel (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 1724351	NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)	ABCD1 (E359*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GLikely pathogenic
Select item 1724267	NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)	ABCD1 (K373*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GLikely pathogenic
Select item 1726839	NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)	ABCD1 (L504fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 1726921	NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)	ABCD1 (K513*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GLikely pathogenic

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