OLFM4[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	AKAP11, ALG11 +780 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LINC00434, LINC00437 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	AKAP11, ALG11 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	LOC124900143, LOC124900144 +266 more	Copy number loss	See cases	GPathogenic
Select item 145018	GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3	CKAP2, CKAP2-DT +29 more	Copy number gain	See cases	GUncertain significance
Select item 3204207	NM_006418.5(OLFM4):c.11G>A (p.Gly4Asp)	OLFM4 (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508148	NM_006418.5(OLFM4):c.64T>G (p.Leu22Val)	OLFM4 (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306038	NM_006418.5(OLFM4):c.70G>C (p.Asp24His)	OLFM4 (D24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383103	NM_006418.5(OLFM4):c.121G>C (p.Asp41His)	OLFM4 (D41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204209	NM_006418.5(OLFM4):c.131C>T (p.Ser44Phe)	OLFM4 (S44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368874	NM_006418.5(OLFM4):c.173G>A (p.Arg58His)	OLFM4 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204211	NM_006418.5(OLFM4):c.223G>A (p.Gly75Ser)	OLFM4 (G75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345267	NM_006418.5(OLFM4):c.292A>G (p.Arg98Gly)	OLFM4 (R98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342273	NM_006418.5(OLFM4):c.302G>A (p.Arg101His)	OLFM4 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234148	NM_006418.5(OLFM4):c.332A>G (p.Gln111Arg)	OLFM4 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362376	NM_006418.5(OLFM4):c.400C>G (p.Leu134Val)	OLFM4 (L134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470305	NM_006418.5(OLFM4):c.454A>G (p.Thr152Ala)	OLFM4 (T152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370612	NM_006418.5(OLFM4):c.622A>C (p.Asn208His)	OLFM4 (N208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250706	NM_006418.5(OLFM4):c.716C>T (p.Pro239Leu)	OLFM4 (P239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470272	NM_006418.5(OLFM4):c.835T>C (p.Ser279Pro)	OLFM4 (S279P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204212	NM_006418.5(OLFM4):c.836C>T (p.Ser279Phe)	OLFM4 (S279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280519	NM_006418.5(OLFM4):c.991A>G (p.Thr331Ala)	OLFM4 (T331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204206	NM_006418.5(OLFM4):c.1115G>A (p.Arg372His)	OLFM4 (R372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204208	NM_006418.5(OLFM4):c.1244T>C (p.Leu415Pro)	OLFM4 (L415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388131	NM_006418.5(OLFM4):c.1303A>G (p.Met435Val)	OLFM4 (M435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204210	NM_006418.5(OLFM4):c.1405A>G (p.Ile469Val)	OLFM4 (I469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312683	NM_006418.5(OLFM4):c.1424A>G (p.Gln475Arg)	OLFM4 (Q475R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337135	NM_006418.5(OLFM4):c.1446C>G (p.Asn482Lys)	OLFM4 (N482K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	AKAP11, ALG11 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ALG11, ARL11 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	KLF5, KLHL1 +62 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564080	GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3	ALG11, ATP7B +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 441094	GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	Gnot provided
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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Items: 85