EPSTI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 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
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 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 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 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	LOC130009600, LOC130009601 +735 more	Copy number gain	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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 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 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
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 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	LOC130009942, LOC130009943 +733 more	Copy number loss	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 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 3276135	NM_033255.5(EPSTI1):c.*74A>G	EPSTI1 (I355V)	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 3276130	NM_033255.5(EPSTI1):c.788C>T (p.Ala263Val)	EPSTI1 (A274V +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 3276134	NM_033255.5(EPSTI1):c.496A>G (p.Lys166Glu)	EPSTI1 (K166E +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 3276131	NM_033255.5(EPSTI1):c.227G>A (p.Arg76Gln)	EPSTI1 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3276132	NM_033255.5(EPSTI1):c.157C>G (p.Arg53Gly)	EPSTI1 (R53G)	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 3276133	NM_033255.5(EPSTI1):c.86G>T (p.Gly29Val)	EPSTI1 (G29V)	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	ITM2B, KBTBD6 +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	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 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)	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 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	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 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	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 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)	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 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)	CRYL1, CSNK1A1L +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

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