"Eurofins Ntd Llc (ga)"[submitter] AND "ABCD1"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92324	NM_000033.4(ABCD1):c.31_46del (p.Arg11fs)	ABCD1 (R11fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 162148	NM_000033.4(ABCD1):c.253dup (p.Arg85fs)	ABCD1 (R85fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 166623	NM_000033.4(ABCD1):c.249C>T (p.Phe83=)	ABCD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92325	NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	ABCD1 (G116R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 92326	NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)	ABCD1 (Q136*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 35642	NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	ABCD1 (A141T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 92327	NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	ABCD1 (V167fs)	Deletion (frameshift variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 369726	NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)	ABCD1 (Q177*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 92328	NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)	ABCD1 (A205E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 592198	NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala)	ABCD1 (D221A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 193034	NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	ABCD1 (R236H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 193032	NM_000033.4(ABCD1):c.750G>C (p.Val250=)	ABCD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 193035	NM_000033.4(ABCD1):c.886T>C (p.Tyr296His)	ABCD1 (Y296H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 496882	NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser)	ABCD1 (Y296S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 193033	NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	ABCD1 (Y296C)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 92329	NM_000033.4(ABCD1):c.901-16C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy +1 more	GBenign/Likely benign
Select item 291177	NM_000033.4(ABCD1):c.901-10C>T	ABCD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 596275	NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs)	ABCD1 (E359fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 196200	NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)	ABCD1 (K373del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 281336	NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	ABCD1 (R389H)	Single nucleotide variant (missense variant)	ABCD1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 166624	NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly)	ABCD1 (R401G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 594664	NM_000033.4(ABCD1):c.1203del (p.Ile402fs)	ABCD1 (I402fs)	Deletion (frameshift variant)	not provided	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 197096	NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	ABCD1 (Q430*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 92314	NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)	ABCD1 (Q466*)	Single nucleotide variant (nonsense)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 11303	NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	ABCD1 (Q472fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 496873	NM_000033.4(ABCD1):c.1489-24C>G	ABCD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92315	NM_000033.4(ABCD1):c.1489-6del	ABCD1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 198035	NM_000033.4(ABCD1):c.1516A>C (p.Thr506Pro)	ABCD1 (T506P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92316	NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)	ABCD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
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 92317	NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	ABCD1 (R518Q)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic
Select item 92318	NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp)	ABCD1 (G529D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 528341	NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	ABCD1 (P543L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 92319	NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)	ABCD1 (R554S)	Single nucleotide variant (missense variant)	not provided	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 92320	NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	ABCD1 (P560L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 92321	NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	ABCD1 (R591W)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 198687	NM_000033.4(ABCD1):c.1781-1G>A	ABCD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 198689	NM_000033.4(ABCD1):c.1792A>G (p.Met598Val)	ABCD1 (M598V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92322	NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)	ABCD1 (W601*)	Single nucleotide variant (nonsense)	not provided +1 more	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 198688	NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 166626	NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	ABCD1 (E609K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GPathogenic
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 92323	NM_000033.4(ABCD1):c.1866-10G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy +5 more	GPathogenic/Likely pathogenic
Select item 282253	NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	ABCD1 (A634T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198984	NM_000033.4(ABCD1):c.1904T>C (p.Val635Ala)	ABCD1 (V635A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289278	NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)	ABCD1 (D638H)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GUncertain significance
Select item 198983	NM_000033.4(ABCD1):c.1955T>A (p.Ile652Asn)	ABCD1 (I652N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288780	NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)	ABCD1 (L663P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 193549	NM_000033.4(ABCD1):c.1992-15C>T	ABCD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287767	NM_000033.4(ABCD1):c.1992-7T>A	ABCD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 193547	NM_000033.4(ABCD1):c.1992-2A>G	ABCD1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193546	NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)	ABCD1 (H669fs)	Microsatellite (frameshift variant)	Adrenoleukodystrophy +1 more	GPathogenic
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 193548	NM_000033.4(ABCD1):c.2237G>C (p.Ter746Ser)	ABCD1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 92313	NM_000033.4(ABCD1):c.*8G>C	ABCD1	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign

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Items: 59