EPN1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	BRSK1, C19orf85 +124 more	Copy number gain	See cases	GUncertain significance
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 2403685	NM_001130072.2(EPN1):c.-101-1340T>C	EPN1 (W6R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403296	NM_001130072.2(EPN1):c.-101-1336T>C	EPN1 (L7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535385	NM_001130072.2(EPN1):c.-101-942A>G	EPN1 (N28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650538	NM_001130072.2(EPN1):c.-101-923C>T	EPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205568	NM_001130072.2(EPN1):c.-101-923C>G	EPN1 (S34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388850	NM_001130072.2(EPN1):c.-101-874C>G	EPN1 (L51V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593060	NM_001130072.2(EPN1):c.-101-844A>G	EPN1 (I61V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2650539	NM_001130072.2(EPN1):c.-76G>A	EPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2569879	NM_001130072.2(EPN1):c.476C>T (p.Thr159Met)	EPN1 (T159M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650540	NM_001130072.2(EPN1):c.608C>T (p.Pro203Leu)	EPN1 (P203L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2492224	NM_001130072.2(EPN1):c.755A>G (p.Lys252Arg)	EPN1 (K338R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457865	NM_001130072.2(EPN1):c.794C>T (p.Thr265Met)	EPN1 (T240M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221740	NM_001130072.2(EPN1):c.808G>C (p.Ala270Pro)	EPN1 (A245P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477448	NM_001130072.2(EPN1):c.818C>T (p.Thr273Ile)	EPN1 (T273I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532539	NM_001130072.2(EPN1):c.844A>G (p.Met282Val)	EPN1 (M257V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233470	NM_001130072.2(EPN1):c.850G>A (p.Ala284Thr)	EPN1 (A370T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379915	NM_001130072.2(EPN1):c.878C>T (p.Ser293Leu)	EPN1 (S379L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384493	NM_001130072.2(EPN1):c.905C>T (p.Pro302Leu)	EPN1 (P277L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380148	NM_001130072.2(EPN1):c.955G>A (p.Asp319Asn)	EPN1 (D405N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331906	NM_001130072.2(EPN1):c.1003G>T (p.Gly335Cys)	EPN1 (G421C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350233	NM_001130072.2(EPN1):c.1040C>T (p.Thr347Met)	EPN1 (T347M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231203	NM_001130072.2(EPN1):c.1076C>T (p.Pro359Leu)	EPN1 (P359L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369654	NM_001130072.2(EPN1):c.1087C>T (p.Pro363Ser)	EPN1 (P338S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352054	NM_001130072.2(EPN1):c.1099G>A (p.Asp367Asn)	EPN1 (D342N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522276	NM_001130072.2(EPN1):c.1169G>C (p.Gly390Ala)	EPN1 (G390A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356239	NM_001130072.2(EPN1):c.1196C>T (p.Thr399Met)	EPN1 (T399M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535442	NM_001130072.2(EPN1):c.1235C>A (p.Thr412Lys)	EPN1 (T386K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568843	NM_001130072.2(EPN1):c.1252G>A (p.Gly418Arg)	EPN1 (G392R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292534	NM_001130072.2(EPN1):c.1260C>A (p.Ser420Arg)	EPN1 (S420R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617105	NM_001130072.2(EPN1):c.1313C>T (p.Ala438Val)	EPN1 (A437V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374687	NM_001130072.2(EPN1):c.1367C>A (p.Pro456Gln)	EPN1 (P456Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213763	NM_001130072.2(EPN1):c.1465A>G (p.Ser489Gly)	EPN1 (S575G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285489	NM_001130072.2(EPN1):c.1468C>T (p.Arg490Trp)	EPN1 (R576W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538635	NM_001130072.2(EPN1):c.1472C>T (p.Pro491Leu)	EPN1 (P465L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322644	NM_001130072.2(EPN1):c.1691C>T (p.Pro564Leu)	EPN1 (P538L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298779	NM_001130072.2(EPN1):c.1700C>T (p.Pro567Leu)	EPN1 (P541L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348971	NM_176820.4(NLRP9):c.2944G>A (p.Glu982Lys)	NLRP9, EPN1 (E982K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650541	NM_176820.4(NLRP9):c.2943C>T (p.Asp981=)	EPN1, NLRP9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	BRSK1, CCDC106 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 67