"OMIM"[submitter] AND "ABCD1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11317	NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)	ABCD1 (M1fs)	Deletion (frameshift variant +1 more)	Adrenoleukodystrophy	GPathogenic
Select item 11297	NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)	ABCD1 (N148S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11298	NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)	ABCD1 (Y174D)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic
Select item 11299	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	ABCD1 (G266R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 11314	NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)	ABCD1 (E292del)	Microsatellite (inframe_deletion)	Adrenoleukodystrophy	GPathogenic
Select item 11292	NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)	ABCD1 (E291K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic
Select item 11316	NM_000033.4(ABCD1):c.900G>A (p.Glu300=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 11296	NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)	ABCD1 (R389G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11300	NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	ABCD1 (R401Q)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic
Select item 11301	NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	ABCD1 (R418W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11302	NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	ABCD1 (R464*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 11303	NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	ABCD1 (Q472fs)	Deletion (frameshift variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 11304	NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter)	ABCD1 (E477*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy	GPathogenic
Select item 11293	NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)	ABCD1 (P484R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic
Select item 11305	NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)	ABCD1 (S515F)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic
Select item 11306	NM_000033.4(ABCD1):c.1552del (p.Arg518fs)	ABCD1 (R518fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
Select item 11307	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1 (R518W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11308	NM_000033.4(ABCD1):c.1634+1G>A	ABCD1	Single nucleotide variant (splice donor variant)	Adrenoleukodystrophy	GPathogenic
Select item 11294	NM_000033.4(ABCD1):c.1635-2A>G	ABCD1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 11309	NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)	ABCD1 (M598fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
Select item 11310	NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	ABCD1 (S606L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 11311	NM_000033.4(ABCD1):c.1820del (p.Gly607fs)	ABCD1 (G607fs)	Deletion (frameshift variant)	Primary adrenocortical insufficiency	GPathogenic
Select item 11313	NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	ABCD1 (R617C)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 11312	NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	ABCD1 (R617H)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 11315	NM_000033.4(ABCD1):c.1865+1G>A	ABCD1	Single nucleotide variant (splice donor variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 92323	NM_000033.4(ABCD1):c.1866-10G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy +5 more	GPathogenic/Likely pathogenic

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Items: 26