"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	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 434063	NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)	ABCD1 (T14A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 458643	NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	ABCD1 (T14R)	Single nucleotide variant (missense variant)	ABCD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 368045	NM_000033.4(ABCD1):c.258C>T (p.Val86=)	ABCD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 377034	NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	ABCD1 (L253V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 518415	NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)	ABCD1 (E421K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GConflicting classifications of pathogenicity
Select item 458630	NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val)	ABCD1 (A445V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 92315	NM_000033.4(ABCD1):c.1489-6del	ABCD1	Deletion (intron variant)	Adrenoleukodystrophy +2 more	GBenign/Likely benign
Select item 915334	NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)	ABCD1 (Q567*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +1 more	GPathogenic