OTUD7B[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2218583	NM_020205.4(OTUD7B):c.2380G>A (p.Gly794Ser)	OTUD7B (G794S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347645	NM_020205.4(OTUD7B):c.2378G>A (p.Arg793Gln)	OTUD7B (R793Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384413	NM_020205.4(OTUD7B):c.2161G>T (p.Val721Phe)	OTUD7B (V721F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791609	NM_020205.4(OTUD7B):c.2103G>T (p.Pro701=)	OTUD7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539273	NM_020205.4(OTUD7B):c.2092A>G (p.Ile698Val)	OTUD7B (I698V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335999	NM_020205.4(OTUD7B):c.2030C>T (p.Thr677Ile)	OTUD7B (T677I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244469	NM_020205.4(OTUD7B):c.1888C>T (p.Arg630Cys)	OTUD7B (R630C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397425	NM_020205.4(OTUD7B):c.1874A>G (p.Glu625Gly)	OTUD7B (E625G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601077	NM_020205.4(OTUD7B):c.1858C>T (p.Arg620Cys)	OTUD7B (R620C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330763	NM_020205.4(OTUD7B):c.1563G>C (p.Met521Ile)	OTUD7B (M521I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256723	NM_020205.4(OTUD7B):c.1514A>C (p.Lys505Thr)	OTUD7B (K505T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525820	NM_020205.4(OTUD7B):c.1485C>A (p.Asp495Glu)	OTUD7B (D495E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2273670	NM_020205.4(OTUD7B):c.1475G>A (p.Arg492Gln)	OTUD7B (R492Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267488	NM_020205.4(OTUD7B):c.1375C>T (p.Arg459Trp)	OTUD7B (R459W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279073	NM_020205.4(OTUD7B):c.1354G>A (p.Ala452Thr)	OTUD7B (A452T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350418	NM_020205.4(OTUD7B):c.1285A>G (p.Met429Val)	OTUD7B (M429V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791610	NM_020205.4(OTUD7B):c.1221C>T (p.Asp407=)	OTUD7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2597817	NM_020205.4(OTUD7B):c.1025C>T (p.Ala342Val)	OTUD7B (A342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273157	NM_020205.4(OTUD7B):c.836A>G (p.Asn279Ser)	OTUD7B (N279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322355	NM_020205.4(OTUD7B):c.805C>A (p.Pro269Thr)	OTUD7B (P269T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221759	NM_020205.4(OTUD7B):c.506G>A (p.Arg169His)	OTUD7B (R169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605337	NM_020205.4(OTUD7B):c.476C>G (p.Ser159Cys)	OTUD7B (S159C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288663	NM_020205.4(OTUD7B):c.442C>T (p.Arg148Cys)	OTUD7B (R148C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406160	NM_020205.4(OTUD7B):c.398G>A (p.Cys133Tyr)	OTUD7B (C133Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391381	NM_020205.4(OTUD7B):c.338A>G (p.His113Arg)	OTUD7B (H113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386895	NM_020205.4(OTUD7B):c.230G>A (p.Arg77His)	OTUD7B (R77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535448	NM_020205.4(OTUD7B):c.216C>G (p.Asp72Glu)	OTUD7B (D72E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783946	NM_020205.4(OTUD7B):c.177G>A (p.Gly59=)	OTUD7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282184	NM_020205.4(OTUD7B):c.115A>C (p.Ser39Arg)	OTUD7B (S39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287006	NM_020205.4(OTUD7B):c.31G>C (p.Asp11His)	OTUD7B (D11H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 1259623	NC_000001.11:g.150066990G>A	LOC129931386, OTUD7B +1 more	Single nucleotide variant	not provided	GBenign
Select item 1231785	NC_000001.11:g.150067150C>A	LOC129931386, OTUD7B +1 more	Single nucleotide variant	not provided	GBenign
Select item 1241620	NC_000001.11:g.150067210=	OTUD7B, VPS45	Single nucleotide variant	not provided	GBenign
Select item 1231161	NC_000001.11:g.150067240T>C	OTUD7B, VPS45	Single nucleotide variant	not provided	GBenign
Select item 1261050	NC_000001.11:g.150067346T>A	OTUD7B, VPS45	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, CLK2 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 565179	GRCh37/hg19 1q21.2(chr1:149802401-149944241)x3	SF3B4, H2AC19 +12 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393786	GRCh37/hg19 1q21.2(chr1:149895368-150130518)x1	MTMR11, OTUD7B +3 more	Copy number loss	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221417	GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3	H2AC19, H2AC20 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50