ClinVar for MedGen (Select 375793) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 995221	NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)	RAB39B (T129I)	Single nucleotide variant (missense variant)	Early-onset parkinsonism-intellectual disability syndrome +2 more	GUncertain significance
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 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)	not provided +1 more	GConflicting classifications of pathogenicity
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 368148	NM_171998.4(RAB39B):c.-61G>C	LOC130068896, RAB39B	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 72	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 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 368144	NM_171998.4(RAB39B):c.*282G>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368143	NM_171998.4(RAB39B):c.*339T>C	RAB39B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 368140	NM_171998.4(RAB39B):c.*1006A>G	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 368138	NM_171998.4(RAB39B):c.*1079A>C	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368137	NM_171998.4(RAB39B):c.*1347C>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
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 368135	NM_171998.4(RAB39B):c.*1580C>G	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
Select item 368133	NM_171998.4(RAB39B):c.*1656=	RAB39B	Single nucleotide variant (no sequence alteration)	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 368131	NM_171998.4(RAB39B):c.*1813C>A	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 368129	NM_171998.4(RAB39B):c.*1945A>T	RAB39B	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 72	GBenign
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 195426	NM_171998.4(RAB39B):c.543A>G (p.Thr181=)	RAB39B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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 10542	NM_171998.4(RAB39B):c.215+1G>A	RAB39B	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 72	GPathogenic

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Items: 33