RAB40B[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 153487	GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3	LOC130062057, LOC130062058 +54 more	Copy number gain	See cases	GUncertain significance
Select item 146404	GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3	B3GNTL1, FN3K +48 more	Copy number gain	See cases	GUncertain significance
Select item 58300	GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 151145	GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1	B3GNTL1, FN3K +40 more	Copy number loss	See cases	GUncertain significance
Select item 57460	GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	B3GNTL1, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 more	Copy number loss	See cases	GUncertain significance
Select item 154076	GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 153662	GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 149274	GRCh38/hg38 17q25.3(chr17:82625521-83056395)x1	B3GNTL1, FN3K +31 more	Copy number loss	See cases	GUncertain significance
Select item 148397	GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1	B3GNTL1, FN3K +32 more	Copy number loss	See cases	GUncertain significance
Select item 3150788	NM_006822.3(RAB40B):c.833C>G (p.Ser278Cys)	RAB40B (S278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150787	NM_006822.3(RAB40B):c.794G>A (p.Ser265Asn)	RAB40B (S265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406820	NM_006822.3(RAB40B):c.784C>A (p.Pro262Thr)	RAB40B (P262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488135	NM_006822.3(RAB40B):c.781C>T (p.Arg261Cys)	RAB40B (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150786	NM_006822.3(RAB40B):c.763C>T (p.Arg255Cys)	RAB40B (R255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599746	NM_006822.3(RAB40B):c.712G>A (p.Gly238Ser)	RAB40B (G238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150785	NM_006822.3(RAB40B):c.691C>G (p.Leu231Val)	RAB40B (L231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150783	NM_006822.3(RAB40B):c.614C>G (p.Pro205Arg)	RAB40B (P205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368611	NM_006822.3(RAB40B):c.601G>A (p.Val201Met)	RAB40B (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272579	NM_006822.3(RAB40B):c.554G>A (p.Arg185Gln)	RAB40B (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237057	NM_006822.3(RAB40B):c.478A>G (p.Asn160Asp)	RAB40B (N160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150782	NM_006822.3(RAB40B):c.440G>A (p.Arg147His)	RAB40B (R147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536652	NM_006822.3(RAB40B):c.440G>C (p.Arg147Pro)	RAB40B (R147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150781	NM_006822.3(RAB40B):c.438G>C (p.Glu146Asp)	RAB40B (E146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472844	NM_006822.3(RAB40B):c.355G>A (p.Val119Ile)	RAB40B (V119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233723	NM_006822.3(RAB40B):c.352G>C (p.Gly118Arg)	RAB40B (G118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239031	NM_006822.3(RAB40B):c.337G>A (p.Asp113Asn)	RAB40B (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268881	NM_006822.3(RAB40B):c.317A>T (p.Asp106Val)	RAB40B (D106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312185	NM_006822.3(RAB40B):c.259G>A (p.Ala87Thr)	RAB40B (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312186	NM_006822.3(RAB40B):c.215G>T (p.Gly72Val)	RAB40B (G72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546130	NM_006822.3(RAB40B):c.161C>A (p.Thr54Asn)	RAB40B (T54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231504	NM_006822.3(RAB40B):c.137C>T (p.Pro46Leu)	LOC130062056, RAB40B (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297030	NM_006822.3(RAB40B):c.115G>A (p.Ala39Thr)	LOC130062056, RAB40B (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286761	NM_006822.3(RAB40B):c.109G>A (p.Gly37Ser)	LOC130062056, RAB40B (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2571007	GRCh37/hg19 17q25.3(chr17:80656331-81009672)x3	B3GNTL1, FN3K +4 more	Copy number gain	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2423509	NC_000017.10:g.(?_80332201)_(80758892_?)dup	CYBC1, FN3K +10 more	Duplication	not provided	GUncertain significance
Select item 1808572	GRCh37/hg19 17q25.3(chr17:80585033-81041938)x3	B3GNTL1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1707631	GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3	B3GNTL1, FN3K +7 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 1341991	GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1	B3GNTL1, FN3K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1340721	GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340494	GRCh37/hg19 17q25.3(chr17:80396464-80698039)x3	CYBC1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 988934	GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688507	GRCh37/hg19 17q25.3(chr17:80488965-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564480	GRCh37/hg19 17q25.3(chr17:80555321-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 564479	GRCh37/hg19 17q25.3(chr17:80489175-81041938)x1	ZNF750, TBCD +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443559	GRCh37/hg19 17q25.3(chr17:80623111-80840332)x1	FN3K, FN3KRP +3 more	Copy number loss	See cases	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442988	GRCh37/hg19 17q25.3(chr17:80558676-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 73