57577[Gene ID] - ClinVar

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Items: 79

	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 2387422	NM_020817.2(CCDC191):c.2752G>A (p.Glu918Lys)	CCDC191, ZDHHC23 (E896K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496023	NM_020817.2(CCDC191):c.2734G>A (p.Val912Ile)	CCDC191, ZDHHC23 (V890I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609899	NM_020817.2(CCDC191):c.2722C>T (p.Pro908Ser)	CCDC191, ZDHHC23 (P886S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454323	NM_020817.2(CCDC191):c.2687G>A (p.Arg896Gln)	CCDC191, ZDHHC23 (R896Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139037	NM_020817.2(CCDC191):c.2563G>A (p.Asp855Asn)	CCDC191, ZDHHC23 (D833N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139036	NM_020817.2(CCDC191):c.2554G>A (p.Val852Met)	CCDC191, ZDHHC23 (V839M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395081	NM_020817.2(CCDC191):c.2515A>C (p.Lys839Gln)	CCDC191, ZDHHC23 (K817Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382064	NM_020817.2(CCDC191):c.2429T>C (p.Leu810Pro)	CCDC191, ZDHHC23 (L797P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358771	NM_020817.2(CCDC191):c.2416T>G (p.Tyr806Asp)	CCDC191, ZDHHC23 (Y806D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332295	NM_020817.2(CCDC191):c.2399C>T (p.Ala800Val)	CCDC191, ZDHHC23 (A787V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402747	NM_020817.2(CCDC191):c.2369G>A (p.Arg790His)	CCDC191, ZDHHC23 (R790H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589023	NM_020817.2(CCDC191):c.2363T>C (p.Phe788Ser)	CCDC191, ZDHHC23 (F766S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610853	NM_020817.2(CCDC191):c.2350A>C (p.Met784Leu)	CCDC191, ZDHHC23 (M762L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359356	NM_020817.2(CCDC191):c.2275A>G (p.Arg759Gly)	CCDC191 (R737G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208798	NM_020817.2(CCDC191):c.2138G>A (p.Arg713Gln)	CCDC191 (R691Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139035	NM_020817.2(CCDC191):c.2090G>A (p.Arg697His)	CCDC191 (R675H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455188	NM_020817.2(CCDC191):c.2012G>A (p.Cys671Tyr)	CCDC191 (C671Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139033	NM_020817.2(CCDC191):c.2009A>G (p.Glu670Gly)	CCDC191 (E657G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139032	NM_020817.2(CCDC191):c.2006C>T (p.Ala669Val)	CCDC191 (A656V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334274	NM_020817.2(CCDC191):c.1967C>T (p.Pro656Leu)	CCDC191 (P643L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139031	NM_020817.2(CCDC191):c.1856A>G (p.Gln619Arg)	CCDC191 (Q606R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344079	NM_020817.2(CCDC191):c.1811G>A (p.Ser604Asn)	CCDC191 (S604N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211238	NM_020817.2(CCDC191):c.1786G>T (p.Ala596Ser)	CCDC191 (A574S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248874	NM_020817.2(CCDC191):c.1735G>A (p.Glu579Lys)	CCDC191 (E557K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357693	NM_020817.2(CCDC191):c.1663C>T (p.Arg555Cys)	CCDC191 (R533C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139030	NM_020817.2(CCDC191):c.1610T>G (p.Leu537Arg)	CCDC191, LOC129937265 (L515R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490186	NM_020817.2(CCDC191):c.1475G>A (p.Ser492Asn)	CCDC191 (S470N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139029	NM_020817.2(CCDC191):c.1288A>G (p.Arg430Gly)	CCDC191 (R408G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139028	NM_020817.2(CCDC191):c.1243G>A (p.Ala415Thr)	CCDC191 (A393T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613946	NM_020817.2(CCDC191):c.1186T>C (p.Tyr396His)	CCDC191 (Y396H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139027	NM_020817.2(CCDC191):c.1161C>G (p.Asn387Lys)	CCDC191 (N387K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139045	NM_020817.2(CCDC191):c.982C>T (p.Arg328Trp)	CCDC191 (R306W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456385	NM_020817.2(CCDC191):c.902A>G (p.Glu301Gly)	CCDC191 (E279G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139043	NM_020817.2(CCDC191):c.861A>C (p.Glu287Asp)	CCDC191 (E265D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139041	NM_020817.2(CCDC191):c.796A>G (p.Thr266Ala)	CCDC191 (T244A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139040	NM_020817.2(CCDC191):c.775G>C (p.Glu259Gln)	CCDC191 (E259Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310726	NM_020817.2(CCDC191):c.561T>A (p.Asp187Glu)	CCDC191 (D165E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602187	NM_020817.2(CCDC191):c.460C>A (p.Gln154Lys)	CCDC191 (Q132K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379043	NM_020817.2(CCDC191):c.446A>G (p.Glu149Gly)	CCDC191 (E127G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378941	NM_020817.2(CCDC191):c.407A>G (p.Lys136Arg)	CCDC191 (K123R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139038	NM_020817.2(CCDC191):c.362G>T (p.Ser121Ile)	CCDC191 (S99I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476696	NM_020817.2(CCDC191):c.331G>A (p.Glu111Lys)	CCDC191 (E89K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139034	NM_020817.2(CCDC191):c.200G>A (p.Ser67Asn)	CCDC191 (S54N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139042	NM_020817.2(CCDC191):c.80C>T (p.Pro27Leu)	CCDC191, LOC129937266 (P27L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139039	NM_020817.2(CCDC191):c.56G>T (p.Arg19Leu)	CCDC191, LOC129937266 (R19L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139044	NM_020817.2(CCDC191):c.8T>C (p.Leu3Pro)	CCDC191, LOC129937266 (L3P)	Single nucleotide variant (missense variant +2 more)	not specified	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 2423903	NC_000003.11:g.(?_113503051)_(114070745_?)dup	ATP6V1A, CCDC191 +7 more	Duplication	not provided	GUncertain significance
Select item 2423902	NC_000003.11:g.(?_113010404)_(114099634_?)del	ATP6V1A, CCDC191 +12 more	Deletion	not provided	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 1077161	GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1	CCDC191, DRD3 +6 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 687395	GRCh37/hg19 3q13.31(chr3:113594376-114060961)x3	CCDC191, DRD3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 79