RAB3IP[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 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 3312175	NM_022456.5(RAB3IP):c.89C>T (p.Thr30Ile)	RAB3IP (T46I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312174	NM_022456.5(RAB3IP):c.91C>G (p.Gln31Glu)	RAB3IP (Q47E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3312176	NM_022456.5(RAB3IP):c.340G>T (p.Ala114Ser)	RAB3IP (A114S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3429211	NM_022456.5(RAB3IP):c.371T>C (p.Ile124Thr)	RAB3IP (I124T +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 provided +1 more	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 +126 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 3429208	NM_022456.5(RAB3IP):c.745A>G (p.Thr249Ala)	RAB3IP (T249A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3429210	NM_022456.5(RAB3IP):c.821G>A (p.Ser274Asn)	RAB3IP (S274N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3429209	NM_022456.5(RAB3IP):c.836G>T (p.Gly279Val)	RAB3IP (G279V +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	IFNG, IL22 +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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 45