ClinVar for Gene (Select 116442) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 328

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367858	NM_171998.4(RAB39B):c.266T>G (p.Phe89Cys)	RAB39B (F89C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366605	NM_171998.4(RAB39B):c.-1dup (p.Met1fs)	LOC130068896, RAB39B (M1fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 3363240	NM_171998.4(RAB39B):c.139T>A (p.Ser47Thr)	RAB39B (S47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360743	NM_171998.4(RAB39B):c.361G>A (p.Val121Met)	RAB39B (V121M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360579	NM_171998.4(RAB39B):c.464G>A (p.Arg155Gln)	RAB39B (R155Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359304	NM_171998.4(RAB39B):c.514T>G (p.Tyr172Asp)	RAB39B (Y172D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3312146	NM_171998.4(RAB39B):c.314A>G (p.Glu105Gly)	RAB39B (E105G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312145	NM_171998.4(RAB39B):c.439A>G (p.Met147Val)	RAB39B (M147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235933	GRCh38/hg38 Xq28(chrX:154895862-155336084)	BRCC3, CLIC2 +34 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
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 3062537	GRCh37/hg19 Xq28(chrX:154260005-154739500)	BRCC3, CLIC2 +10 more	Copy number gain	not specified	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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3022382	NM_171998.4(RAB39B):c.215+10C>G	RAB39B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809751	NM_171998.4(RAB39B):c.188G>A (p.Trp63Ter)	RAB39B (W63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2737467	NM_171998.4(RAB39B):c.123G>T (p.Val41=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661876	NM_171998.4(RAB39B):c.27C>G (p.Phe9Leu)	RAB39B (F9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623618	NM_171998.4(RAB39B):c.551A>G (p.Glu184Gly)	RAB39B (E184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583089	GRCh37/hg19 Xq28(chrX:154124352-154563736)x2	FUNDC2, BRCC3 +6 more	Copy number gain	not provided	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506112	NM_171998.4(RAB39B):c.313G>A (p.Glu105Lys)	RAB39B (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2428875	NM_171998.4(RAB39B):c.436G>A (p.Gly146Ser)	RAB39B (G146S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427468	NC_000023.10:g.(?_154490088)_(154563736_?)dup	CLIC2, RAB39B	Duplication	not provided	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2261687	NM_171998.4(RAB39B):c.235T>C (p.Tyr79His)	RAB39B (Y79H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970242	NM_171998.4(RAB39B):c.280C>T (p.Arg94Cys)	RAB39B (R94C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960822	NM_171998.4(RAB39B):c.215+13T>A	RAB39B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808711	GRCh37/hg19 Xq28(chrX:154120621-154565718)x1	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808693	GRCh37/hg19 Xq28(chrX:154112020-154617577)x3	F8A1, BRCC3 +10 more	Copy number gain	not provided	GPathogenic
Select item 1808575	GRCh37/hg19 Xq28(chrX:154110981-154565718)x2	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1801958	NM_171998.4(RAB39B):c.530G>A (p.Arg177Lys)	RAB39B (R177K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712043	NM_171998.4(RAB39B):c.28C>T (p.Arg10Trp)	RAB39B (R10W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1695898	GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	SMIM9, TAFAZZIN +36 more	Copy number gain	not provided	Gnot provided
Select item 1695328	NM_171998.4(RAB39B):c.270C>T (p.Asp90=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691598	NM_171998.4(RAB39B):c.137dup (p.Ser47fs)	RAB39B (S47fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1679228	NM_171998.4(RAB39B):c.43G>C (p.Gly15Arg)	RAB39B (G15R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 1676192	NM_171998.4(RAB39B):c.535dup (p.Glu179fs)	RAB39B (E179fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1536817	NM_171998.4(RAB39B):c.330C>T (p.His110=)	RAB39B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1516911	NM_171998.4(RAB39B):c.532G>A (p.Gly178Arg)	RAB39B (G178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379912	NM_171998.4(RAB39B):c.571A>G (p.Ser191Gly)	RAB39B (S191G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367655	NM_171998.4(RAB39B):c.281G>A (p.Arg94His)	RAB39B (R94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343162	NM_171998.4(RAB39B):c.559del (p.Glu187fs)	RAB39B (E187fs)	Deletion (frameshift variant)	Developmental disorder	GLikely pathogenic
Select item 1342389	NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	BRCC3, CLIC2 +64 more	Deletion	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340345	GRCh37/hg19 Xq28(chrX:154120629-154565718)x0	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1339850	GRCh37/hg19 Xq28(chrX:154124170-154528181)x3	BRCC3, CLIC2 +6 more	Copy number gain	Chromosome Xq28 duplication syndrome	Gnot provided
Select item 1339803	GRCh37/hg19 Xq28(chrX:154489808-154490709)x0	RAB39B	Copy number loss	RAB39B-related disorder	Gnot provided
Select item 1335801	NM_171998.4(RAB39B):c.455C>T (p.Thr152Met)	RAB39B (T152M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310283	NM_171998.4(RAB39B):c.548A>C (p.Gln183Pro)	RAB39B (Q183P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309370	NM_171998.4(RAB39B):c.174_176del (p.Ile58_Lys59delinsMet)	RAB39B	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1261089	NC_000023.11:g.155264774A>G	RAB39B	Single nucleotide variant	not provided	GBenign
Select item 1257177	NM_171998.4(RAB39B):c.215+253=	RAB39B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252168	NC_000023.11:g.155264893=	RAB39B	Single nucleotide variant	not provided	GBenign
Select item 1210217	NC_000023.11:g.155264167_155265545del	LOC130068896, LOC130068897 +1 more	Deletion	Early-onset parkinsonism-intellectual disability syndrome	GPathogenic
Select item 1192092	NM_171998.4(RAB39B):c.216-128dup	RAB39B	Duplication (intron variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	GPathogenic
Select item 995221	NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)	RAB39B (T129I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 980881	GRCh37/hg19 Xq28(chrX:154078238-154563469)x3	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 931638	NM_171998.4(RAB39B):c.64T>G (p.Ser22Ala)	RAB39B (S22A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 930800	NM_171998.4(RAB39B):c.349G>T (p.Val117Leu)	RAB39B (V117L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 929354	GRCh37/hg19 Xq28(chrX:154051891-155236747)x3	BRCC3, CLIC2 +14 more	Copy number gain	See cases	GPathogenic
Select item 929335	GRCh37/hg19 Xq28(chrX:154130223-154563104)x3	BRCC3, CLIC2 +6 more	Copy number gain	See cases	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 914873	NM_171998.4(RAB39B):c.*2366G>A	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 914872	NM_171998.4(RAB39B):c.*2551T>C	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 914413	NM_171998.4(RAB39B):c.-84C>G	LOC130068896, RAB39B	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 914412	NM_171998.4(RAB39B):c.-62C>A	LOC130068896, RAB39B	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 913298	NM_171998.4(RAB39B):c.*428C>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 913297	NM_171998.4(RAB39B):c.*588A>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 912927	NM_171998.4(RAB39B):c.*1452T>C	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72 +1 more	GConflicting classifications of pathogenicity
Select item 816418	GRCh37/hg19 Xq28(chrX:154418280-154565718)x3	RAB39B, CLIC2 +1 more	Copy number gain	not provided	GLikely pathogenic
Select item 816416	GRCh37/hg19 Xq28(chrX:154120620-154617577)x3	H2AB2, FUNDC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 816415	GRCh37/hg19 Xq28(chrX:154112019-154625699)x2	F8A1, MTCP1 +10 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 4