EPSTI1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 95

	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 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 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 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +437 more	Copy number loss	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 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	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 151322	GRCh38/hg38 13q14.11(chr13:42684429-43246957)x1	DNAJC15, ENOX1 +21 more	Copy number loss	See cases	GLikely benign
Select item 147336	GRCh38/hg38 13q14.11(chr13:42703535-43413099)x4	DNAJC15, ENOX1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 149069	GRCh38/hg38 13q14.11(chr13:42786307-43325066)x3	DNAJC15, ENOX1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2277615	NM_033255.5(EPSTI1):c.*202A>G	EPSTI1 (I397M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2470928	NM_033255.5(EPSTI1):c.*194G>A	EPSTI1 (E395K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089984	NM_033255.5(EPSTI1):c.*191C>A	EPSTI1 (P394T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521772	NM_033255.5(EPSTI1):c.*182G>C	EPSTI1 (E391Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284697	NM_033255.5(EPSTI1):c.*171C>A	EPSTI1 (A387E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089983	NM_033255.5(EPSTI1):c.*161C>T	EPSTI1 (L384F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089982	NM_033255.5(EPSTI1):c.*122C>T	EPSTI1 (L371F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547929	NM_033255.5(EPSTI1):c.*119A>G	EPSTI1 (T370A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356893	NM_033255.5(EPSTI1):c.*102T>C	EPSTI1 (L364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266678	NM_033255.5(EPSTI1):c.*99C>T	EPSTI1 (T363I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487527	NM_033255.5(EPSTI1):c.*50C>T	EPSTI1 (H347Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354536	NM_033255.5(EPSTI1):c.*27C>T	EPSTI1 (S339L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340628	NM_033255.5(EPSTI1):c.916-714C>G	EPSTI1 (H325Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355815	NM_033255.5(EPSTI1):c.817G>A (p.Val273Ile)	EPSTI1 (V146I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411080	NM_033255.5(EPSTI1):c.763C>T (p.Arg255Trp)	EPSTI1 (R128W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521773	NM_033255.5(EPSTI1):c.754G>C (p.Glu252Gln)	EPSTI1 (E252Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317883	NM_033255.5(EPSTI1):c.663A>T (p.Arg221Ser)	EPSTI1 (R94S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536718	NM_033255.5(EPSTI1):c.619T>G (p.Cys207Gly)	EPSTI1 (C207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151253	GRCh38/hg38 13q14.11(chr13:42943008-43219325)x3	DNAJC15, ENOX1 +15 more	Copy number gain	See cases	GLikely benign
Select item 3089985	NM_033255.5(EPSTI1):c.524A>G (p.Glu175Gly)	EPSTI1 (E175G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515868	NM_033255.5(EPSTI1):c.516A>T (p.Arg172Ser)	EPSTI1 (R172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307527	NM_033255.5(EPSTI1):c.445G>A (p.Glu149Lys)	EPSTI1 (E149K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552564	NM_033255.5(EPSTI1):c.421T>C (p.Ser141Pro)	EPSTI1 (S14P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219332	NM_033255.5(EPSTI1):c.350C>T (p.Thr117Ile)	EPSTI1 (T117I)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2292876	NM_033255.5(EPSTI1):c.335G>A (p.Gly112Glu)	EPSTI1 (G112E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784269	NM_033255.5(EPSTI1):c.332-15dup	EPSTI1	Duplication (intron variant)	not provided	GBenign
Select item 2290153	NM_033255.5(EPSTI1):c.317T>G (p.Val106Gly)	EPSTI1 (V106G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232450	NM_033255.5(EPSTI1):c.262C>A (p.Leu88Met)	EPSTI1 (L88M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779645	NM_033255.5(EPSTI1):c.244A>G (p.Arg82Gly)	EPSTI1 (R82G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2227643	NM_033255.5(EPSTI1):c.226C>T (p.Arg76Trp)	EPSTI1 (R76W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614756	NM_033255.5(EPSTI1):c.174C>G (p.His58Gln)	EPSTI1 (H58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544755	NM_033255.5(EPSTI1):c.127G>A (p.Gly43Ser)	EPSTI1 (G43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306293	NM_033255.5(EPSTI1):c.117C>G (p.Asp39Glu)	EPSTI1 (D39E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333953	NM_033255.5(EPSTI1):c.85G>A (p.Gly29Arg)	EPSTI1 (G29R)	Single nucleotide variant (missense variant +1 more)	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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	AKAP11, ALG11 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685463	GRCh37/hg19 13q14.11(chr13:43510859-43599623)x1	DNAJC15, EPSTI1	Copy number loss	not provided	GUncertain significance
Select item 1808354	GRCh37/hg19 13q14.11(chr13:43163676-43717925)x3	DNAJC15, EPSTI1 +2 more	Copy number gain	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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
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 1340631	GRCh37/hg19 13q14.11(chr13:43163676-43719772)x3	DNAJC15, EPSTI1 +2 more	Copy number gain	not provided	GUncertain significance
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 815584	GRCh37/hg19 13q14.11(chr13:43163675-43887005)x3	TNFSF11, EPSTI1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 689120	GRCh37/hg19 13q14.11(chr13:43488913-43741064)x3	DNAJC15, EPSTI1	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 686947	GRCh37/hg19 13q14.11(chr13:43469210-43781588)x3	DNAJC15, EPSTI1	Copy number gain	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +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 564042	GRCh37/hg19 13q14.11(chr13:43163675-43717925)x4	FAM216B, TNFSF11 +2 more	Copy number gain	not provided	GUncertain significance
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 394468	GRCh37/hg19 13q14.11(chr13:43500388-43731858)x3	DNAJC15, EPSTI1	Copy number gain	See cases	GLikely benign
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 393541	GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3	EPSTI1, DNAJC15	Copy number gain	VATER association	GLikely benign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 95