ClinVar for Gene (Select 215) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353509	NM_000033.4(ABCD1):c.154dup (p.Glu52fs)	ABCD1 (E52fs)	Duplication (frameshift variant)	ABCD1-related disorder	GLikely pathogenic
Select item 3347388	NM_000033.4(ABCD1):c.1441A>T (p.Ile481Phe)	ABCD1 (I481F)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GUncertain significance
Select item 3347149	NM_000033.4(ABCD1):c.1673T>C (p.Ile558Thr)	ABCD1 (I558T)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GLikely pathogenic
Select item 3346584	NM_000033.4(ABCD1):c.1504C>T (p.His502Tyr)	ABCD1 (H502Y)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GUncertain significance
Select item 3345260	NM_000033.4(ABCD1):c.647C>G (p.Thr216Ser)	ABCD1 (T216S)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GUncertain significance
Select item 3342836	NM_000033.4(ABCD1):c.1256T>G (p.Val419Gly)	ABCD1 (V419G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340680	NM_000033.4(ABCD1):c.1428C>A (p.Cys476Ter)	ABCD1 (C476*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339274	NM_000033.4(ABCD1):c.1082-697G>A	ABCD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338971	NM_000033.4(ABCD1):c.2000A>C (p.His667Pro)	ABCD1 (H667P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338821	NM_000033.4(ABCD1):c.1533C>A (p.Cys511Ter)	ABCD1 (C511*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338820	NM_000033.4(ABCD1):c.893G>T (p.Gly298Val)	ABCD1 (G298V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3336580	NM_000033.4(ABCD1):c.1948G>T (p.Ala650Ser)	ABCD1 (A650S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336215	NM_000033.4(ABCD1):c.1111del (p.Glu371fs)	ABCD1 (E371fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
Select item 3252611	NM_000033.4(ABCD1):c.1504dup (p.His502fs)	ABCD1 (H502fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3245014	NC_000023.10:g.(?_152482081)_(153416424_?)del	ABCD1, ARHGAP4 +27 more	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3244871	NC_000023.10:g.(?_152954030)_(153009189_?)dup	ABCD1, BCAP31 +1 more	Duplication	Creatine transporter deficiency	GUncertain significance
Select item 3243803	NC_000023.10:g.(?_153006133)_(153007471_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243792	NC_000023.10:g.(?_152994830)_(153000530_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243781	NC_000023.10:g.(?_152991389)_(152991912_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243770	NC_000023.10:g.(?_153005526)_(153009189_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243759	NC_000023.10:g.(?_152994667)_(152994887_?)del	ABCD1	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Adrenoleukodystrophy +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3240119	NM_000033.4(ABCD1):c.413_416dup (p.Ile140fs)	ABCD1 (I140fs)	Duplication (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3240094	NM_000033.4(ABCD1):c.686T>C (p.Leu229Pro)	ABCD1 (L229P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GPathogenic
Select item 3235990	NM_000033.4(ABCD1):c.997T>A (p.Phe333Ile)	ABCD1 (F333I)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3234644	NM_000033.4(ABCD1):c.247_264dup (p.Cys88_Arg89insPheProArgValLeuCys)	ABCD1	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 3233474	NM_000033.4(ABCD1):c.1898G>A (p.Ser633Asn)	ABCD1 (S633N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3129039	NM_000033.4(ABCD1):c.731C>T (p.Ser244Leu)	ABCD1 (S244L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129023	NM_000033.4(ABCD1):c.1872G>C (p.Lys624Asn)	ABCD1 (K624N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068243	NM_000033.4(ABCD1):c.926C>T (p.Ser309Phe)	ABCD1 (S309F)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3068231	NM_000033.4(ABCD1):c.1866-2A>T	ABCD1	Single nucleotide variant (splice acceptor variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3068082	NM_000033.4(ABCD1):c.1774G>A (p.Glu592Lys)	ABCD1 (E592K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3068003	NM_000033.4(ABCD1):c.1850G>T (p.Arg617Leu)	ABCD1 (R617L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3067174	NM_000033.4(ABCD1):c.8del (p.Val3fs)	ABCD1 (V3fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3061600	NM_000033.4(ABCD1):c.668_669del (p.Ala223fs)	ABCD1 (A223fs)	Deletion (frameshift variant)	ABCD1-related disorder	GPathogenic
Select item 3054663	NM_000033.4(ABCD1):c.1156A>G (p.Thr386Ala)	ABCD1 (T386A)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GUncertain significance
Select item 3052289	NM_000033.4(ABCD1):c.1159del (p.Ile387fs)	ABCD1 (I387fs)	Deletion (frameshift variant)	ABCD1-related disorder	GPathogenic
Select item 3046466	NM_000033.4(ABCD1):c.934G>T (p.Asp312Tyr)	ABCD1 (D312Y)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GUncertain significance
Select item 3039965	NM_000033.4(ABCD1):c.1913A>C (p.Asp638Ala)	ABCD1 (D638A)	Single nucleotide variant (missense variant)	ABCD1-related disorder	GUncertain significance
Select item 3030005	NM_000033.4(ABCD1):c.1255G>A (p.Val419Met)	ABCD1 (V419M)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3026941	NM_000033.4(ABCD1):c.201del (p.Met67fs)	ABCD1 (M67fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CPXCR1, MAGEE2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3024112	NM_000033.4(ABCD1):c.1508del (p.Leu503fs)	ABCD1 (L503fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3023752	NM_000033.4(ABCD1):c.1299C>T (p.His433=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GBenign
Select item 3021877	NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GBenign
Select item 3020310	NM_000033.4(ABCD1):c.1082-7T>G	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 3017276	NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)	ABCD1 (A50T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3016991	NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)	ABCD1 (A168V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3014105	NM_000033.4(ABCD1):c.1094T>A (p.Val365Glu)	ABCD1 (V365E)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 3012932	NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser)	ABCD1 (P7S)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 3006062	NM_000033.4(ABCD1):c.324G>T (p.Ser108=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 3005902	NM_000033.4(ABCD1):c.66G>C (p.Leu22=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2996273	NM_000033.4(ABCD1):c.546G>A (p.Arg182=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2994977	NM_000033.4(ABCD1):c.750G>A (p.Val250=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2982430	NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)	ABCD1 (E682K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2980868	NM_000033.4(ABCD1):c.924C>T (p.Arg308=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2971826	NM_000033.4(ABCD1):c.324G>C (p.Ser108=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2971691	NM_000033.4(ABCD1):c.1081+13G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2965566	NM_000033.4(ABCD1):c.1394-15G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2919665	NM_000033.4(ABCD1):c.1991+14C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2917914	NM_000033.4(ABCD1):c.378C>T (p.Asp126=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2917886	NM_000033.4(ABCD1):c.351G>A (p.Arg117=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2916854	NM_000033.4(ABCD1):c.6G>T (p.Pro2=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2915206	NM_000033.4(ABCD1):c.732G>T (p.Ser244=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2915021	NM_000033.4(ABCD1):c.1866-18C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2914235	NM_000033.4(ABCD1):c.1146A>G (p.Thr382=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2912651	NM_000033.4(ABCD1):c.900+20C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2911578	NM_000033.4(ABCD1):c.741C>T (p.Ala247=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2911467	NM_000033.4(ABCD1):c.1093G>C (p.Val365Leu)	ABCD1 (V365L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 2910687	NM_000033.4(ABCD1):c.402G>A (p.Leu134=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GBenign
Select item 2909598	NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2905805	NM_000033.4(ABCD1):c.1866-19T>C	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2903136	NM_000033.4(ABCD1):c.1781-16C>G	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2902660	NM_000033.4(ABCD1):c.1965C>G (p.Leu655=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2900646	NM_000033.4(ABCD1):c.1780+14G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2899802	NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr)	ABCD1 (A57T)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 2897575	NM_000033.4(ABCD1):c.174C>T (p.Ser58=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2896138	NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys)	ABCD1 (W10C)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 2894619	NM_000033.4(ABCD1):c.1394-18G>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2890946	NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)	ABCD1 (A727fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2890420	NM_000033.4(ABCD1):c.1634+17G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2890237	NM_000033.4(ABCD1):c.1393+9G>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2889590	NM_000033.4(ABCD1):c.1489-17G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2888961	NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)	ABCD1 (L703fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2885675	NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)	ABCD1 (E376K)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2885577	NM_000033.4(ABCD1):c.901-7C>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2884134	NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)	ABCD1 (A647S)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 2883809	NM_000033.4(ABCD1):c.151G>A (p.Gly51Arg)	ABCD1 (G51R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 2882336	NM_000033.4(ABCD1):c.1489-14T>C	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2878846	NM_000033.4(ABCD1):c.1224+20A>C	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2875750	NM_000033.4(ABCD1):c.1992-4C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2866506	NM_000033.4(ABCD1):c.603G>T (p.Val201=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2865178	NM_000033.4(ABCD1):c.609C>G (p.Ala203=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2864238	NM_000033.4(ABCD1):c.1488+7C>T	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign

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