EPPK1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658923	NM_031308.4(EPPK1):c.14799G>A (p.Ala4933=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032925	NM_031308.4(EPPK1):c.7236C>A (p.Leu2412=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2348662	NM_031308.4(EPPK1):c.7202T>C (p.Leu2401Pro)	EPPK1 (L2401P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061481	NM_031308.4(EPPK1):c.7170C>T (p.Asn2390=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3034690	NM_031308.4(EPPK1):c.7155C>T (p.Gly2385=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3051806	NM_031308.4(EPPK1):c.7119C>T (p.Asn2373=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3055080	NM_031308.4(EPPK1):c.7104C>T (p.Phe2368=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3034991	NM_031308.4(EPPK1):c.7091G>A (p.Arg2364Gln)	EPPK1 (R2364Q)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3053023	NM_031308.4(EPPK1):c.7068C>T (p.Arg2356=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3051969	NM_031308.4(EPPK1):c.7038C>T (p.Gly2346=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3053783	NM_031308.4(EPPK1):c.7029C>T (p.Ile2343=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3030626	NM_031308.4(EPPK1):c.6924C>T (p.Thr2308=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3052731	NM_031308.4(EPPK1):c.6915C>T (p.Arg2305=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3035784	NM_031308.4(EPPK1):c.6879C>T (p.Gly2293=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3039843	NM_031308.4(EPPK1):c.6807C>T (p.Thr2269=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3048170	NM_031308.4(EPPK1):c.6795G>A (p.Ala2265=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3036895	NM_031308.4(EPPK1):c.6768C>T (p.Pro2256=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3035127	NM_031308.4(EPPK1):c.6756C>T (p.Gly2252=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3052691	NM_031308.4(EPPK1):c.6732C>T (p.Ser2244=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3034987	NM_031308.4(EPPK1):c.6711C>T (p.Pro2237=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3050929	NM_031308.4(EPPK1):c.6657C>T (p.Tyr2219=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3089850	NM_031308.4(EPPK1):c.6656A>T (p.Tyr2219Phe)	EPPK1 (Y2219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029183	NM_031308.4(EPPK1):c.6654C>A (p.Arg2218=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3029299	NM_031308.4(EPPK1):c.6648C>A (p.Val2216=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3035520	NM_031308.4(EPPK1):c.6645del (p.Val2216fs)	EPPK1 (V2216fs)	Deletion (frameshift variant)	EPPK1-related disorder	GBenign
Select item 3035315	NM_031308.4(EPPK1):c.6642_6643insT (p.Arg2215fs)	EPPK1 (R2215fs)	Insertion (frameshift variant)	EPPK1-related disorder	GBenign
Select item 3034684	NM_031308.4(EPPK1):c.6643C>T (p.Arg2215Cys)	EPPK1 (R2215C)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 2374920	NM_031308.4(EPPK1):c.6640G>T (p.Asp2214Tyr)	EPPK1 (D2214Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035540	NM_031308.4(EPPK1):c.6636_6637insAT (p.Asp2213fs)	EPPK1 (D2213fs)	Insertion (frameshift variant)	EPPK1-related disorder	GBenign
Select item 2256564	NM_031308.4(EPPK1):c.6634G>C (p.Glu2212Gln)	EPPK1 (E2212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993814	NM_031308.4(EPPK1):c.6634G>T (p.Glu2212Ter)	EPPK1 (E2212*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3035046	NM_031308.4(EPPK1):c.6630C>G (p.Leu2210=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3035155	NM_031308.4(EPPK1):c.6624A>G (p.Gln2208=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3050881	NM_031308.4(EPPK1):c.6620C>T (p.Thr2207Met)	EPPK1 (T2207M)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 2658924	NM_031308.4(EPPK1):c.6618G>A (p.Thr2206=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2277526	NM_031308.4(EPPK1):c.6615C>A (p.Ser2205Arg)	EPPK1 (S2205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367718	NM_031308.4(EPPK1):c.6611G>A (p.Arg2204Gln)	EPPK1 (R2204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343446	NM_031308.4(EPPK1):c.6611G>C (p.Arg2204Pro)	EPPK1 (R2204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051985	NM_031308.4(EPPK1):c.6606G>A (p.Thr2202=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2320741	NM_031308.4(EPPK1):c.6601G>C (p.Glu2201Gln)	EPPK1 (E2201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276057	NM_031308.4(EPPK1):c.6594G>C (p.Gln2198His)	EPPK1 (Q2198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348257	NM_031308.4(EPPK1):c.6586A>G (p.Met2196Val)	EPPK1 (M2196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053460	NM_031308.4(EPPK1):c.6559C>T (p.Leu2187Phe)	EPPK1 (L2187F)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3048910	NM_031308.4(EPPK1):c.6515T>G (p.Leu2172Arg)	EPPK1 (L2172R)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3035498	NM_031308.4(EPPK1):c.6502A>G (p.Ser2168Gly)	EPPK1 (S2168G)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3035696	NM_031308.4(EPPK1):c.6493C>G (p.Gln2165Glu)	EPPK1 (Q2165E)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 2531767	NM_031308.4(EPPK1):c.6487G>A (p.Glu2163Lys)	EPPK1 (E2163K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035594	NM_031308.4(EPPK1):c.6481T>C (p.Leu2161=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign
Select item 3089849	NM_031308.4(EPPK1):c.6478G>C (p.Glu2160Gln)	EPPK1 (E2160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089848	NM_031308.4(EPPK1):c.6468G>C (p.Gln2156His)	EPPK1 (Q2156H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533340	NM_031308.4(EPPK1):c.6467A>G (p.Gln2156Arg)	EPPK1 (Q2156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052171	NM_031308.4(EPPK1):c.6465G>A (p.Ala2155=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign
Select item 2469142	NM_031308.4(EPPK1):c.6464C>T (p.Ala2155Val)	EPPK1 (A2155V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3053737	NM_031308.4(EPPK1):c.6463G>A (p.Ala2155Thr)	EPPK1 (A2155T)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 2658925	NM_031308.4(EPPK1):c.6459G>A (p.Thr2153=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2560156	NM_031308.4(EPPK1):c.6432A>C (p.Arg2144Ser)	EPPK1 (R2144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089847	NM_031308.4(EPPK1):c.6425T>C (p.Met2142Thr)	EPPK1 (M2142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031897	NM_031308.4(EPPK1):c.6414G>A (p.Gln2138=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2224217	NM_031308.4(EPPK1):c.6349G>A (p.Gly2117Ser)	EPPK1 (G2117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046361	NM_031308.4(EPPK1):c.6341G>A (p.Arg2114Lys)	EPPK1 (R2114K)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3046316	NM_031308.4(EPPK1):c.6312G>A (p.Glu2104=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2386580	NM_031308.4(EPPK1):c.6286G>A (p.Asp2096Asn)	EPPK1 (D2096N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034913	NM_031308.4(EPPK1):c.6241C>G (p.Leu2081Val)	EPPK1 (L2081V)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 2238435	NM_031308.4(EPPK1):c.6240G>T (p.Trp2080Cys)	EPPK1 (W2080C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036075	NM_031308.4(EPPK1):c.6234G>A (p.Thr2078=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3053631	NM_031308.4(EPPK1):c.6224A>C (p.Gln2075Pro)	EPPK1 (Q2075P)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3034593	NM_031308.4(EPPK1):c.6193T>A (p.Tyr2065Asn)	EPPK1 (Y2065N)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3052803	NM_031308.4(EPPK1):c.6177G>A (p.Thr2059=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3053934	NM_031308.4(EPPK1):c.6171G>C (p.Pro2057=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2658926	NM_031308.4(EPPK1):c.6123T>C (p.Tyr2041=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355945	NM_031308.4(EPPK1):c.6097C>T (p.Arg2033Trp)	EPPK1 (R2033W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048011	NM_031308.4(EPPK1):c.6063C>T (p.His2021=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign
Select item 2629933	NM_031308.4(EPPK1):c.6059A>G (p.Gln2020Arg)	EPPK1 (Q2020R)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GUncertain significance
Select item 3035526	NM_031308.4(EPPK1):c.6052G>A (p.Asp2018Asn)	EPPK1 (D2018N)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 2658927	NM_031308.4(EPPK1):c.6051C>T (p.Ile2017=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054914	NM_031308.4(EPPK1):c.6039G>A (p.Thr2013=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2206301	NM_031308.4(EPPK1):c.6034G>A (p.Ala2012Thr)	EPPK1 (A2012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035773	NM_031308.4(EPPK1):c.6003G>A (p.Ala2001=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign
Select item 2348834	NM_031308.4(EPPK1):c.5993T>C (p.Ile1998Thr)	EPPK1 (I1998T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051030	NM_031308.4(EPPK1):c.5964G>A (p.Pro1988=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2531577	NM_031308.4(EPPK1):c.5959A>T (p.Ile1987Phe)	EPPK1 (I1987F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386257	NM_031308.4(EPPK1):c.5957C>T (p.Thr1986Met)	EPPK1 (T1986M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276063	NM_031308.4(EPPK1):c.5926A>G (p.Thr1976Ala)	EPPK1 (T1976A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545168	NM_031308.4(EPPK1):c.5893C>T (p.Arg1965Trp)	EPPK1 (R1965W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547644	NM_031308.4(EPPK1):c.5884G>C (p.Glu1962Gln)	EPPK1 (E1962Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457347	NM_031308.4(EPPK1):c.5879T>C (p.Val1960Ala)	EPPK1 (V1960A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207288	NM_031308.4(EPPK1):c.5863G>A (p.Val1955Met)	EPPK1 (V1955M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051435	NM_031308.4(EPPK1):c.5811C>T (p.Thr1937=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 2658928	NM_031308.4(EPPK1):c.5763C>T (p.Leu1921=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2673161	NM_031308.4(EPPK1):c.5709G>A (p.Thr1903=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634051	NM_031308.4(EPPK1):c.5704del (p.Val1902fs)	EPPK1 (V1902fs)	Deletion (frameshift variant)	EPPK1-related disorder	GUncertain significance
Select item 3047109	NM_031308.4(EPPK1):c.5699C>T (p.Ala1900Val)	EPPK1 (A1900V)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3053626	NM_031308.4(EPPK1):c.5590G>A (p.Val1864Ile)	EPPK1 (V1864I)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3053472	NM_031308.4(EPPK1):c.5543C>T (p.Ala1848Val)	EPPK1 (A1848V)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3035242	NM_031308.4(EPPK1):c.5519C>T (p.Thr1840Met)	EPPK1 (T1840M)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3089846	NM_031308.4(EPPK1):c.5498C>T (p.Thr1833Met)	EPPK1 (T1833M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036789	NM_031308.4(EPPK1):c.5496C>G (p.Thr1832=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3052904	NM_031308.4(EPPK1):c.5482C>T (p.Leu1828=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign
Select item 2215976	NM_031308.4(EPPK1):c.5431C>T (p.Arg1811Trp)	EPPK1 (R1811W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045646	NM_031308.4(EPPK1):c.5430G>A (p.Lys1810=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign

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