RAB3IP[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 3150768	NM_022456.5(RAB3IP):c.-25G>A	RAB3IP	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3150766	NM_022456.5(RAB3IP):c.101C>T (p.Thr34Ile)	RAB3IP (T34I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150767	NM_022456.5(RAB3IP):c.113G>A (p.Ser38Asn)	RAB3IP (S38N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225303	NM_022456.5(RAB3IP):c.233C>T (p.Ala78Val)	RAB3IP (A94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369047	NM_022456.5(RAB3IP):c.241T>C (p.Ser81Pro)	RAB3IP (S97P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150769	NM_022456.5(RAB3IP):c.269C>T (p.Pro90Leu)	RAB3IP (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251330	NM_022456.5(RAB3IP):c.281C>T (p.Ser94Phe)	RAB3IP (S110F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459968	NM_022456.5(RAB3IP):c.293T>A (p.Val98Asp)	RAB3IP (V114D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523587	NM_022456.5(RAB3IP):c.431G>A (p.Arg144His)	RAB3IP (R144H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257216	NM_022456.5(RAB3IP):c.464A>G (p.Glu155Gly)	RAB3IP (E155G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 2487972	NM_022456.5(RAB3IP):c.557G>A (p.Arg186Gln)	RAB3IP (R186Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2206320	NM_022456.5(RAB3IP):c.610G>A (p.Ala204Thr)	RAB3IP (A204T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2555187	NM_022456.5(RAB3IP):c.625A>G (p.Arg209Gly)	RAB3IP (R209G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491493	NM_022456.5(RAB3IP):c.638T>C (p.Ile213Thr)	RAB3IP (I229T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480495	NM_022456.5(RAB3IP):c.846G>T (p.Gln282His)	RAB3IP (Q76H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601597	NM_022456.5(RAB3IP):c.853A>G (p.Ser285Gly)	RAB3IP (S301G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357308	NM_022456.5(RAB3IP):c.881G>A (p.Cys294Tyr)	RAB3IP (C294Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559270	NM_022456.5(RAB3IP):c.917G>A (p.Arg306Gln)	RAB3IP (R100Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221638	NM_022456.5(RAB3IP):c.1013G>T (p.Ser338Ile)	RAB3IP (S338I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475362	NM_022456.5(RAB3IP):c.1057C>G (p.Leu353Val)	RAB3IP (L353V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208949	NM_022456.5(RAB3IP):c.1090C>T (p.Arg364Trp)	RAB3IP (R158W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616077	NM_022456.5(RAB3IP):c.1105T>G (p.Ser369Ala)	RAB3IP (S385A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239413	NM_022456.5(RAB3IP):c.1208T>G (p.Ile403Ser)	RAB3IP (I403S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238503	NM_022456.5(RAB3IP):c.1237T>C (p.Ser413Pro)	RAB3IP (S207P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280200	NM_022456.5(RAB3IP):c.1293G>C (p.Gln431His)	RAB3IP (Q431H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209356	NM_022456.5(RAB3IP):c.1342A>C (p.Met448Leu)	RAB3IP (M242L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	YEATS4, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38