Related gene-specific medical variations for Gene (Select 116442) - ClinVar - NCBI

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

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366605	NM_171998.4(RAB39B):c.-1dup (p.Met1fs)	LOC130068896, RAB39B (M1fs)	Duplication (frameshift variant)	not specified	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 1339803	GRCh37/hg19 Xq28(chrX:154489808-154490709)x0	RAB39B	Copy number loss	RAB39B-related disorder	Gnot provided
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 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 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 489029	NM_171998.4(RAB39B):c.2T>C (p.Met1Thr)	LOC130068896, RAB39B (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	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