"Ambry Genetics"[submitter] AND "EPN1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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

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Items: 34