RAB39B[gene] and "single gene"[properties] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 368127	NM_171998.4(RAB39B):c.*2100C>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 368128	NM_171998.4(RAB39B):c.*1949CAAA[1]	RAB39B	Microsatellite (3 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368129	NM_171998.4(RAB39B):c.*1945A>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368130	NM_171998.4(RAB39B):c.*1935G>A	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 368131	NM_171998.4(RAB39B):c.*1813C>A	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368132	NM_171998.4(RAB39B):c.*1728A>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 368133	NM_171998.4(RAB39B):c.*1656=	RAB39B	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign
Select item 368134	NM_171998.4(RAB39B):c.*1621del	RAB39B	Deletion (3 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368135	NM_171998.4(RAB39B):c.*1580C>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
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 368136	NM_171998.4(RAB39B):c.*1428T>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 368137	NM_171998.4(RAB39B):c.*1347C>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72 +1 more	GBenign
Select item 368138	NM_171998.4(RAB39B):c.*1079A>C	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368139	NM_171998.4(RAB39B):c.*1040C>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368140	NM_171998.4(RAB39B):c.*1006A>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368141	NM_171998.4(RAB39B):c.659_660insATA	RAB39B	Insertion (3 prime UTR variant)	Non-syndromic X-linked intellectual disability	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 368142	NM_171998.4(RAB39B):c.*485T>G	RAB39B	Single nucleotide variant (3 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 368143	NM_171998.4(RAB39B):c.*339T>C	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72 +1 more	GConflicting classifications of pathogenicity
Select item 368144	NM_171998.4(RAB39B):c.*282G>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368145	NM_171998.4(RAB39B):c.139_142del	RAB39B	Deletion (3 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368146	NM_171998.4(RAB39B):c.*65A>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 218364	NM_171998.4(RAB39B):c.624GAG[1] (p.Arg210del)	RAB39B (R210del)	Microsatellite (inframe_deletion)	Parkinson disease, X-linked dominant	GUncertain significance
Select item 761788	NM_171998.4(RAB39B):c.585A>T (p.Pro195=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218362	NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)	RAB39B (G192R)	Single nucleotide variant (missense variant)	Parkinson disease, X-linked dominant	GPathogenic
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 1343162	NM_171998.4(RAB39B):c.559del (p.Glu187fs)	RAB39B (E187fs)	Deletion (frameshift variant)	Developmental disorder	GLikely pathogenic
Select item 436462	NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter)	RAB39B (E187*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 72	GPathogenic
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 1310283	NM_171998.4(RAB39B):c.548A>C (p.Gln183Pro)	RAB39B (Q183P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195426	NM_171998.4(RAB39B):c.543A>G (p.Thr181=)	RAB39B	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 72 +3 more	GBenign/Likely benign
Select item 1676192	NM_171998.4(RAB39B):c.535dup (p.Glu179fs)	RAB39B (E179fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 1801958	NM_171998.4(RAB39B):c.530G>A (p.Arg177Lys)	RAB39B (R177K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156532	NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)	RAB39B (T168K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 211977	NM_171998.4(RAB39B):c.492C>T (p.Phe164=)	RAB39B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 754488	NM_171998.4(RAB39B):c.477T>C (p.Asn159=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3312145	NM_171998.4(RAB39B):c.439A>G (p.Met147Val)	RAB39B (M147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 218363	NM_171998.4(RAB39B):c.428C>G (p.Ala143Gly)	RAB39B (A143G)	Single nucleotide variant (missense variant)	Parkinson disease, X-linked dominant	GUncertain significance
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 436461	NM_171998.4(RAB39B):c.350T>C (p.Val117Ala)	RAB39B (V117A)	Single nucleotide variant (missense variant)	not specified	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 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 3312146	NM_171998.4(RAB39B):c.314A>G (p.Glu105Gly)	RAB39B (E105G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1367655	NM_171998.4(RAB39B):c.281G>A (p.Arg94His)	RAB39B (R94H)	Single nucleotide variant (missense variant)	not provided	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 368147	NM_171998.4(RAB39B):c.273T>C (p.Ile91=)	RAB39B	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 72	GUncertain significance
Select item 1695328	NM_171998.4(RAB39B):c.270C>T (p.Asp90=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1192092	NM_171998.4(RAB39B):c.216-128dup	RAB39B	Duplication (intron variant)	not provided	GLikely benign
Select item 1257177	NM_171998.4(RAB39B):c.215+253=	RAB39B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1960822	NM_171998.4(RAB39B):c.215+13T>A	RAB39B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022382	NM_171998.4(RAB39B):c.215+10C>G	RAB39B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 758998	NM_171998.4(RAB39B):c.215+9G>T	RAB39B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 587830	NM_171998.4(RAB39B):c.215+3G>A	RAB39B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 10542	NM_171998.4(RAB39B):c.215+1G>A	RAB39B	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 72	GPathogenic
Select item 633549	NM_171998.4(RAB39B):c.189G>T (p.Trp63Cys)	RAB39B (W63C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2809751	NM_171998.4(RAB39B):c.188G>A (p.Trp63Ter)	RAB39B (W63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1309370	NM_171998.4(RAB39B):c.174_176del (p.Ile58_Lys59delinsMet)	RAB39B	Deletion (inframe_indel)	not provided	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 1691598	NM_171998.4(RAB39B):c.137dup (p.Ser47fs)	RAB39B (S47fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 587961	NM_171998.4(RAB39B):c.126G>T (p.Gly42=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2737467	NM_171998.4(RAB39B):c.123G>T (p.Val41=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588305	NM_171998.4(RAB39B):c.96C>T (p.Arg32=)	RAB39B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 436460	NM_171998.4(RAB39B):c.93T>C (p.Gly31=)	RAB39B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 1712043	NM_171998.4(RAB39B):c.28C>T (p.Arg10Trp)	RAB39B (R10W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 10543	NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter)	RAB39B (Y7*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 72	GPathogenic
Select item 1261089	NC_000023.11:g.155264774A>G	RAB39B	Single nucleotide variant	not provided	GBenign
Select item 1252168	NC_000023.11:g.155264893=	RAB39B	Single nucleotide variant	not provided	GBenign
Select item 1339803	GRCh37/hg19 Xq28(chrX:154489808-154490709)x0	RAB39B	Copy number loss	RAB39B-related disorder	Gnot provided
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

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Items: 82