ClinVar for MedGen (Select 57667) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1343

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391300	NM_000033.4(ABCD1):c.7G>C (p.Val3Leu)	ABCD1 (V3L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3391299	NM_000033.4(ABCD1):c.900+1G>C	ABCD1	Single nucleotide variant (splice donor variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3381950	NM_000033.4(ABCD1):c.1394G>A (p.Gly465Asp)	ABCD1 (G465D)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3377356	NM_000033.4(ABCD1):c.1036A>G (p.Met346Val)	ABCD1 (M346V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 3358972	NM_000033.4(ABCD1):c.828_829insAAT (p.Lys276_Gly277insAsn)	ABCD1	Insertion (inframe_insertion)	Adrenoleukodystrophy	GLikely pathogenic
Select item 3336215	NM_000033.4(ABCD1):c.1111del (p.Glu371fs)	ABCD1 (E371fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
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	Creatine transporter deficiency +6 more	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 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 3030005	NM_000033.4(ABCD1):c.1255G>A (p.Val419Met)	ABCD1 (V419M)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
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
Select item 2864184	NM_000033.4(ABCD1):c.233T>A (p.Leu78His)	ABCD1 (L78H)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2862981	NM_000033.4(ABCD1):c.1615A>C (p.Met539Leu)	ABCD1 (M539L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely benign
Select item 2862070	NM_000033.4(ABCD1):c.244C>T (p.Leu82=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2861649	NM_000033.4(ABCD1):c.975G>T (p.Leu325=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2860786	NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)	ABCD1 (P243R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2860279	NM_000033.4(ABCD1):c.408G>A (p.Gln136=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2859742	NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)	ABCD1 (L78R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2858105	NM_000033.4(ABCD1):c.900+18G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2856657	NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)	ABCD1 (L220R)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GLikely pathogenic
Select item 2855301	NM_000033.4(ABCD1):c.1082-15T>C	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2854223	NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)	ABCD1 (L684G)	Indel (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2851904	NM_000033.4(ABCD1):c.1394-18G>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GBenign
Select item 2850893	NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)	ABCD1 (R381F)	Indel (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2850415	NM_000033.4(ABCD1):c.1992-9C>A	ABCD1	Single nucleotide variant (intron variant)	Adrenoleukodystrophy	GLikely benign
Select item 2849441	NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)	ABCD1 (A255P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2848892	NM_000033.4(ABCD1):c.1788G>A (p.Glu596=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2848464	NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)	ABCD1 (A29P)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2847588	NM_000033.4(ABCD1):c.1824C>A (p.Gly608=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2846522	NM_000033.4(ABCD1):c.45G>A (p.Leu15=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2844264	NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)	ABCD1 (M403V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2844155	NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)	ABCD1 (M566V)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2843345	NM_000033.4(ABCD1):c.450C>T (p.Ala150=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2840463	NM_000033.4(ABCD1):c.1554G>A (p.Arg518=)	ABCD1	Single nucleotide variant (synonymous variant)	Adrenoleukodystrophy	GLikely benign
Select item 2840126	NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)	ABCD1 (K367E)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2839779	NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)	ABCD1 (F252L)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance
Select item 2839477	NM_000033.4(ABCD1):c.1530del (p.Cys511fs)	ABCD1 (C511fs)	Deletion (frameshift variant)	Adrenoleukodystrophy	GPathogenic
Select item 2839325	NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)	ABCD1 (D674H)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy	GUncertain significance

<< First< Prev

Page of 14