BOC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	ATG3, ATP6V1A +126 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +104 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +190 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 2348166	NM_001378074.1(BOC):c.20C>T (p.Thr7Met)	BOC (T7M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541129	NM_001378074.1(BOC):c.23C>T (p.Ala8Val)	BOC (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260608	NM_001378074.1(BOC):c.59G>A (p.Cys20Tyr)	BOC (C20Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252073	NM_001378074.1(BOC):c.112G>T (p.Val38Phe)	BOC (V38F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337860	NM_001378074.1(BOC):c.130T>C (p.Ser44Pro)	BOC (S44P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329802	NM_001378074.1(BOC):c.283G>A (p.Ala95Thr)	BOC (A95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286257	NM_001378074.1(BOC):c.295C>T (p.His99Tyr)	BOC (H99Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382245	NM_001378074.1(BOC):c.307C>T (p.Arg103Trp)	BOC (R103W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215729	NM_001378074.1(BOC):c.522A>C (p.Arg174Ser)	BOC (R174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 747269	NM_001378074.1(BOC):c.600T>C (p.Cys200=)	BOC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3134696	NM_001378074.1(BOC):c.644C>T (p.Ser215Phe)	BOC (S215F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134697	NM_001378074.1(BOC):c.658C>T (p.Arg220Cys)	BOC (R220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403311	NM_001378074.1(BOC):c.659G>A (p.Arg220His)	BOC (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382088	NM_001378074.1(BOC):c.694A>G (p.Ile232Val)	BOC (I232V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134698	NM_001378074.1(BOC):c.745A>G (p.Ile249Val)	BOC (I249V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395148	NM_001378074.1(BOC):c.809G>C (p.Ser270Thr)	BOC (S270T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624254	NM_001378074.1(BOC):c.815C>T (p.Thr272Ile)	BOC (T272I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 744348	NM_001378074.1(BOC):c.815C>A (p.Thr272Asn)	BOC (T272N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2483951	NM_001378074.1(BOC):c.828G>T (p.Lys276Asn)	BOC (K276N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134699	NM_001378074.1(BOC):c.830C>T (p.Thr277Met)	BOC (T277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134700	NM_001378074.1(BOC):c.965C>A (p.Pro322His)	BOC (P322H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134701	NM_001378074.1(BOC):c.980T>C (p.Met327Thr)	BOC (M327T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134685	NM_001378074.1(BOC):c.1022A>G (p.Lys341Arg)	BOC (K341R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2654037	NM_001378074.1(BOC):c.1059C>T (p.Ser353=)	BOC	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2559619	NM_001378074.1(BOC):c.1073G>A (p.Arg358Lys)	BOC (R358K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331900	NM_001378074.1(BOC):c.1087C>T (p.Leu363Phe)	BOC (L363F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362652	NM_001378074.1(BOC):c.1097G>A (p.Ser366Asn)	BOC (S366N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134686	NM_001378074.1(BOC):c.1166A>G (p.Tyr389Cys)	BOC (Y389C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209772	NM_001378074.1(BOC):c.1186G>C (p.Glu396Gln)	BOC (E396Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291312	NM_001378074.1(BOC):c.1219C>T (p.Arg407Trp)	BOC (R407W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218838	NM_001378074.1(BOC):c.1265A>C (p.Glu422Ala)	BOC (E331A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214520	NM_001378074.1(BOC):c.1357A>G (p.Thr453Ala)	BOC (T362A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2210681	NM_001378074.1(BOC):c.1400G>C (p.Gly467Ala)	BOC (G467A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396415	NM_001378074.1(BOC):c.1417G>A (p.Glu473Lys)	BOC (E473K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546952	NM_001378074.1(BOC):c.1439C>T (p.Ser480Leu)	BOC (S389L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134687	NM_001378074.1(BOC):c.1444C>T (p.Arg482Cys)	BOC (R482C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267897	NM_001378074.1(BOC):c.1492G>A (p.Glu498Lys)	BOC (E407K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256007	NM_001378074.1(BOC):c.1493A>G (p.Glu498Gly)	BOC (E407G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302223	NM_001378074.1(BOC):c.1592A>G (p.Asn531Ser)	BOC (N530S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518763	NM_001378074.1(BOC):c.1609C>T (p.Leu537Phe)	BOC (L446F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 523664	NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu)	BOC (G556E +2 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly sequence	GUncertain significance
Select item 2469669	NM_001378074.1(BOC):c.1708C>T (p.Arg570Trp)	BOC (R479W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207773	NM_001378074.1(BOC):c.1732G>A (p.Ala578Thr)	BOC (A577T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336902	NM_001378074.1(BOC):c.1738A>G (p.Lys580Glu)	BOC (K489E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619633	NM_001378074.1(BOC):c.1817C>G (p.Pro606Arg)	BOC (P605R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322970	NM_001378074.1(BOC):c.1841C>A (p.Thr614Asn)	BOC (T613N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296629	NM_001378074.1(BOC):c.1991G>A (p.Arg664Gln)	BOC (R664Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134688	NM_001378074.1(BOC):c.2050G>A (p.Ala684Thr)	BOC (A683T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739095	NM_001378074.1(BOC):c.2064G>T (p.Leu688=)	BOC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2482691	NM_001378074.1(BOC):c.2082C>A (p.Ser694Arg)	BOC (S603R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134689	NM_001378074.1(BOC):c.2092C>T (p.Arg698Trp)	BOC (R697W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220015	NM_001378074.1(BOC):c.2131G>A (p.Glu711Lys)	BOC (E620K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619765	NM_001378074.1(BOC):c.2136G>C (p.Arg712Ser)	BOC (R621S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775894	NM_001378074.1(BOC):c.2145A>G (p.Ala715=)	BOC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2374056	NM_001378074.1(BOC):c.2168A>G (p.Asp723Gly)	BOC (D722G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255118	NM_001378074.1(BOC):c.2204T>C (p.Met735Thr)	BOC (M644T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493390	NM_001378074.1(BOC):c.2231C>A (p.Thr744Asn)	BOC (T744N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 760209	NM_001378074.1(BOC):c.2394G>A (p.Gly798=)	BOC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2304920	NM_001378074.1(BOC):c.2482G>A (p.Ala828Thr)	BOC (A828T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775895	NM_001378074.1(BOC):c.2486C>G (p.Pro829Arg)	BOC (P828R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2530292	NM_001378074.1(BOC):c.2519G>A (p.Arg840Gln)	BOC (R749Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358752	NM_001378074.1(BOC):c.2522C>T (p.Pro841Leu)	BOC (P841L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326282	NM_001378074.1(BOC):c.2522C>G (p.Pro841Arg)	BOC (P750R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298157	NM_001378074.1(BOC):c.2567A>G (p.Tyr856Cys)	BOC (Y765C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 744349	NM_001378074.1(BOC):c.2592C>T (p.Gly864=)	BOC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2619864	NM_001378074.1(BOC):c.2599G>C (p.Val867Leu)	BOC (V867L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775896	NM_001378074.1(BOC):c.2652G>C (p.Lys884Asn)	BOC (K884N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713904	NM_001378074.1(BOC):c.2737C>T (p.Pro913Ser)	BOC (P912S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2654038	NM_001378074.1(BOC):c.2865G>A (p.Gln955=)	BOC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620912	NM_001378074.1(BOC):c.2878G>A (p.Glu960Lys)	BOC (E960K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134691	NM_001378074.1(BOC):c.2968G>C (p.Gly990Arg)	BOC (G990R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608323	NM_001378074.1(BOC):c.2993G>A (p.Gly998Asp)	BOC (G907D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288203	NM_001378074.1(BOC):c.3019G>T (p.Asp1007Tyr)	BOC (D1006Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134692	NM_001378074.1(BOC):c.3046C>T (p.His1016Tyr)	BOC (H1015Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134693	NM_001378074.1(BOC):c.3052G>A (p.Asp1018Asn)	BOC (D1017N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134694	NM_001378074.1(BOC):c.3064C>T (p.Arg1022Cys)	BOC (R1022C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134695	NM_001378074.1(BOC):c.3086T>C (p.Val1029Ala)	BOC (V1028A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376614	NM_001378074.1(BOC):c.3115G>A (p.Asp1039Asn)	BOC (D948N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685091	GRCh37/hg19 3q13.2(chr3:112922764-113199212)x1	BOC, CFAP44 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic

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