ClinVar for Gene (Select 55068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275459	NM_001347969.2(ENOX1):c.316A>G (p.Thr106Ala)	ENOX1 (T106A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275458	NM_001347969.2(ENOX1):c.710G>C (p.Arg237Pro)	ENOX1 (R272P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275457	NM_001347969.2(ENOX1):c.115A>G (p.Asn39Asp)	ENOX1 (N39D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275456	NM_001347969.2(ENOX1):c.698G>C (p.Arg233Thr)	ENOX1 (R194T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275455	NM_001347969.2(ENOX1):c.1676G>A (p.Ser559Asn)	ENOX1 (S559N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088935	NM_001347969.2(ENOX1):c.947G>C (p.Arg316Pro)	ENOX1 (R316P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088934	NM_001347969.2(ENOX1):c.758C>A (p.Pro253Gln)	ENOX1 (P288Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088933	NM_001347969.2(ENOX1):c.1804T>C (p.Ser602Pro)	ENOX1 (S563P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088932	NM_001347969.2(ENOX1):c.1399G>A (p.Asp467Asn)	ENOX1 (D502N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088931	NM_001347969.2(ENOX1):c.1274A>G (p.Gln425Arg)	ENOX1 (Q460R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088930	NM_001347969.2(ENOX1):c.1228A>G (p.Ser410Gly)	ENOX1 (S410G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088928	NM_001347969.2(ENOX1):c.1187G>A (p.Arg396His)	ENOX1 (R431H +2 more)	Single nucleotide variant (missense variant)	not specified	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 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685464	GRCh37/hg19 13q14.11(chr13:44141531-44296623)x1	ENOX1	Copy number loss	not provided	GUncertain significance
Select item 2643794	NM_001347969.2(ENOX1):c.197A>G (p.Gln66Arg)	ENOX1 (Q101R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643793	NM_001347969.2(ENOX1):c.1872G>A (p.Val624=)	ENOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621216	NM_001347969.2(ENOX1):c.112C>A (p.Leu38Ile)	ENOX1 (L38I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596466	NM_001347969.2(ENOX1):c.28A>G (p.Ile10Val)	ENOX1 (I10V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555002	NM_001347969.2(ENOX1):c.179T>C (p.Val60Ala)	ENOX1 (V60A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555001	NM_001347969.2(ENOX1):c.175C>T (p.Pro59Ser)	ENOX1 (P20S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540554	NM_001347969.2(ENOX1):c.439G>A (p.Gly147Arg)	ENOX1 (G147R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538698	NM_001347969.2(ENOX1):c.97A>G (p.Ile33Val)	ENOX1 (I68V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536212	NM_001347969.2(ENOX1):c.1279T>C (p.Tyr427His)	ENOX1 (Y427H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510296	NM_001347969.2(ENOX1):c.971A>G (p.His324Arg)	ENOX1 (H359R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507571	NM_001347969.2(ENOX1):c.706G>T (p.Ala236Ser)	ENOX1 (A197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482170	NM_001347969.2(ENOX1):c.1404G>C (p.Gln468His)	ENOX1 (Q503H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457099	NM_001347969.2(ENOX1):c.1738G>A (p.Val580Ile)	ENOX1 (V615I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456682	NM_001347969.2(ENOX1):c.494G>C (p.Cys165Ser)	ENOX1 (C165S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410557	NM_001347969.2(ENOX1):c.1435G>C (p.Gly479Arg)	ENOX1 (G479R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404367	NM_001347969.2(ENOX1):c.1652G>A (p.Arg551Gln)	ENOX1 (R512Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379067	NM_001347969.2(ENOX1):c.34C>A (p.Gln12Lys)	ENOX1 (Q12K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369016	NM_001347969.2(ENOX1):c.1843C>T (p.Arg615Cys)	ENOX1 (R576C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318915	NM_001347969.2(ENOX1):c.1427C>T (p.Thr476Ile)	ENOX1 (T511I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302379	NM_001347969.2(ENOX1):c.1621G>A (p.Val541Met)	ENOX1 (V502M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293644	NM_001347969.2(ENOX1):c.1853A>G (p.Lys618Arg)	ENOX1 (K579R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293643	NM_001347969.2(ENOX1):c.1810A>T (p.Asn604Tyr)	ENOX1 (N639Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246629	NM_001347969.2(ENOX1):c.102C>A (p.Asp34Glu)	ENOX1 (D69E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208706	NM_001347969.2(ENOX1):c.770C>A (p.Ala257Asp)	ENOX1 (A218D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807946	GRCh37/hg19 13q14.11(chr13:43935405-44158625)x1	ENOX1	Copy number loss	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340462	GRCh37/hg19 13q14.11-14.12(chr13:43688967-45630698)x1	CCDC122, ENOX1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815585	GRCh37/hg19 13q14.11(chr13:44010123-44252546)x1	ENOX1	Copy number loss	not provided	GUncertain significance
Select item 815584	GRCh37/hg19 13q14.11(chr13:43163675-43887005)x3	TNFSF11, EPSTI1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688837	GRCh37/hg19 13q14.11(chr13:43745933-43943671)x3	ENOX1	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686009	GRCh37/hg19 13q14.11(chr13:43696984-44177348)x3	ENOX1	Copy number gain	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564049	GRCh37/hg19 13q14.11(chr13:43159134-44041338)x4	TNFSF11, DNAJC15 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564028	GRCh37/hg19 13q14.11(chr13:43688966-44021703)x1	ENOX1	Copy number loss	not provided	GUncertain significance
Select item 443857	GRCh37/hg19 13q14.11(chr13:43688915-44021703)x1	ENOX1	Copy number loss	See cases	GLikely benign
Select item 443439	GRCh37/hg19 13q14.11(chr13:43627560-43865335)x1	DNAJC15, ENOX1	Copy number loss	See cases	GUncertain significance
Select item 443371	GRCh37/hg19 13q14.11(chr13:43697927-44021703)x1	ENOX1	Copy number loss	See cases	GLikely benign
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394610	GRCh37/hg19 13q14.11(chr13:43793461-43937487)x3	ENOX1	Copy number gain	See cases	GLikely benign
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 226235	GRCh37/hg19 13q14.11(chr13:44032193-44171911)	ENOX1	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 161522	NM_001347969.2(ENOX1):c.759_765del (p.Ser254fs)	ENOX1 (S289fs +2 more)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009641, LOC130009642 +141 more	Copy number gain	See cases	GUncertain significance
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 151322	GRCh38/hg38 13q14.11(chr13:42684429-43246957)x1	DNAJC15, ENOX1 +21 more	Copy number loss	See cases	GLikely benign
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 151253	GRCh38/hg38 13q14.11(chr13:42943008-43219325)x3	DNAJC15, ENOX1 +15 more	Copy number gain	See cases	GLikely benign
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 149069	GRCh38/hg38 13q14.11(chr13:42786307-43325066)x3	DNAJC15, ENOX1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147336	GRCh38/hg38 13q14.11(chr13:42703535-43413099)x4	DNAJC15, ENOX1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic

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