"Ambry Genetics"[submitter] AND "EPG5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318503	NM_213602.3(SIGLEC15):c.11C>A (p.Ser4Tyr)	EPG5, SIGLEC15 (S4Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514863	NM_213602.3(SIGLEC15):c.35C>T (p.Ala12Val)	EPG5, SIGLEC15 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466436	NM_213602.3(SIGLEC15):c.90C>G (p.Asn30Lys)	EPG5, SIGLEC15 (N30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248290	NM_213602.3(SIGLEC15):c.93G>C (p.Leu31Phe)	EPG5, SIGLEC15 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553452	NM_213602.3(SIGLEC15):c.113G>T (p.Ser38Ile)	EPG5, SIGLEC15 (S38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162195	NM_213602.3(SIGLEC15):c.158G>C (p.Ser53Thr)	EPG5, SIGLEC15 (S53T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324357	NM_213602.3(SIGLEC15):c.170G>A (p.Gly57Asp)	EPG5, SIGLEC15 (G57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379899	NM_213602.3(SIGLEC15):c.185T>G (p.Leu62Arg)	EPG5, SIGLEC15 (L62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162196	NM_213602.3(SIGLEC15):c.190T>G (p.Cys64Gly)	EPG5, SIGLEC15 (C64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356866	NM_213602.3(SIGLEC15):c.239T>C (p.Ile80Thr)	EPG5, SIGLEC15 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162197	NM_213602.3(SIGLEC15):c.293C>T (p.Ala98Val)	EPG5, SIGLEC15 (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473450	NM_213602.3(SIGLEC15):c.296G>C (p.Arg99Pro)	EPG5, SIGLEC15 (R99P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364019	NM_213602.3(SIGLEC15):c.333C>G (p.His111Gln)	EPG5, SIGLEC15 (H111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224513	NM_213602.3(SIGLEC15):c.382C>A (p.Arg128Ser)	EPG5, SIGLEC15 (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303222	NM_213602.3(SIGLEC15):c.388G>C (p.Glu130Gln)	EPG5, SIGLEC15 (E130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318502	NM_213602.3(SIGLEC15):c.418T>C (p.Tyr140His)	EPG5, SIGLEC15 (Y140H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539991	NM_213602.3(SIGLEC15):c.472C>T (p.His158Tyr)	EPG5, SIGLEC15 (H158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318501	NM_213602.3(SIGLEC15):c.482G>A (p.Arg161Gln)	EPG5, SIGLEC15 (R161Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254539	NM_213602.3(SIGLEC15):c.533G>C (p.Ser178Thr)	EPG5, SIGLEC15 (S178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335055	NM_213602.3(SIGLEC15):c.535C>G (p.Pro179Ala)	EPG5, SIGLEC15 (P179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277904	NM_213602.3(SIGLEC15):c.538G>A (p.Ala180Thr)	EPG5, SIGLEC15 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481227	NM_213602.3(SIGLEC15):c.551G>A (p.Arg184His)	EPG5, SIGLEC15 (R184H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219431	NM_213602.3(SIGLEC15):c.605C>A (p.Pro202Gln)	EPG5, SIGLEC15 (P202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162198	NM_213602.3(SIGLEC15):c.613G>T (p.Gly205Cys)	EPG5, SIGLEC15 (G205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360943	NM_213602.3(SIGLEC15):c.631G>A (p.Val211Met)	EPG5, SIGLEC15 (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384635	NM_213602.3(SIGLEC15):c.673G>A (p.Glu225Lys)	EPG5, SIGLEC15 (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406405	NM_213602.3(SIGLEC15):c.700C>G (p.Arg234Gly)	EPG5, SIGLEC15 (R234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513331	NM_213602.3(SIGLEC15):c.824C>T (p.Ala275Val)	EPG5, SIGLEC15 (A275V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2101552	NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter)	EPG5 (R2578* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1473636	NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn)	EPG5 (D2576N)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 3089501	NM_020964.3(EPG5):c.7583C>T (p.Ala2528Val)	EPG5 (A2527V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547540	NM_020964.3(EPG5):c.7583C>G (p.Ala2528Gly)	EPG5 (A2527G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1400016	NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala)	EPG5 (S2526A)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 967036	NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu)	EPG5 (Q2496E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2271542	NM_020964.3(EPG5):c.7273C>G (p.Leu2425Val)	EPG5 (L2425V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1042719	NM_020964.3(EPG5):c.7266C>G (p.His2422Gln)	EPG5 (H2422Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1043928	NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg)	EPG5 (W2420R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1042457	NM_020964.3(EPG5):c.7231G>A (p.Val2411Met)	EPG5 (V2411M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 567217	NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg)	EPG5 (K2401R)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 1921828	NM_020964.3(EPG5):c.7183G>A (p.Val2395Met)	EPG5 (V2394M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2256909	NM_020964.3(EPG5):c.7179G>C (p.Met2393Ile)	EPG5 (M2392I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1022656	NM_020964.3(EPG5):c.7174G>A (p.Glu2392Lys)	EPG5 (E2392K)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 444432	NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val)	EPG5 (L2389V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3275875	NM_020964.3(EPG5):c.7160A>G (p.Gln2387Arg)	EPG5 (Q2386R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 649346	NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys)	EPG5 (N2384K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 392190	NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly)	EPG5 (S2291G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 534598	NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val)	EPG5 (A2280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3275864	NM_020964.3(EPG5):c.6828G>C (p.Met2276Ile)	EPG5 (M2275I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275860	NM_020964.3(EPG5):c.6828G>A (p.Met2276Ile)	EPG5 (M2275I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089500	NM_020964.3(EPG5):c.6792G>A (p.Met2264Ile)	EPG5 (M2264I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 534595	NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile)	EPG5 (M2264I)	Single nucleotide variant (missense variant)	Vici syndrome +2 more	GUncertain significance
Select item 3089499	NM_020964.3(EPG5):c.6791T>C (p.Met2264Thr)	EPG5 (M2263T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011503	NM_020964.3(EPG5):c.6785G>A (p.Arg2262His)	EPG5 (R2262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3275878	NM_020964.3(EPG5):c.6772G>C (p.Asp2258His)	EPG5 (D2257H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508130	NM_020964.3(EPG5):c.6742G>A (p.Asp2248Asn)	EPG5 (D2248N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959753	NM_020964.3(EPG5):c.6691G>A (p.Gly2231Arg)	EPG5 (G2230R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089498	NM_020964.3(EPG5):c.6650C>T (p.Thr2217Ile)	EPG5 (T2217I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401345	NM_020964.3(EPG5):c.6632C>T (p.Pro2211Leu)	EPG5 (P2211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2382704	NM_020964.3(EPG5):c.6584C>T (p.Ala2195Val)	EPG5 (A2194V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025926	NM_020964.3(EPG5):c.6526A>G (p.Ile2176Val)	EPG5 (I2176V)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2298397	NM_020964.3(EPG5):c.6491T>C (p.Val2164Ala)	EPG5 (V2164A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298396	NM_020964.3(EPG5):c.6487A>T (p.Ser2163Cys)	EPG5 (S2163C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228305	NM_020964.3(EPG5):c.6427A>G (p.Ser2143Gly)	EPG5 (S2142G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1005667	NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly)	EPG5 (V2100G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1044630	NM_020964.3(EPG5):c.6292G>T (p.Val2098Phe)	EPG5 (V2098F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1519599	NM_020964.3(EPG5):c.6253T>G (p.Phe2085Val)	EPG5 (F2085V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 647558	NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly)	EPG5 (A2072G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1008669	NM_020964.3(EPG5):c.6190C>T (p.His2064Tyr)	EPG5 (H2064Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 392189	NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)	EPG5 (R2056W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1512034	NM_020964.3(EPG5):c.6148G>A (p.Ala2050Thr)	EPG5 (A2050T)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1365080	NM_020964.3(EPG5):c.6049+4G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome +1 more	GUncertain significance
Select item 451769	NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys)	EPG5 (E2013K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 577295	NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile)	EPG5 (T1994I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3089497	NM_020964.3(EPG5):c.5957A>T (p.His1986Leu)	EPG5 (H1985L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275042	NM_020964.3(EPG5):c.5951A>G (p.Gln1984Arg)	EPG5 (Q1984R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 534602	NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys)	EPG5 (N1979K)	Single nucleotide variant (missense variant)	Vici syndrome +2 more	GUncertain significance
Select item 2558597	NM_020964.3(EPG5):c.5881C>G (p.Leu1961Val)	EPG5 (L1961V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1021258	NM_020964.3(EPG5):c.5854G>A (p.Ala1952Thr)	EPG5 (A1952T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 664194	NM_020964.3(EPG5):c.5735A>C (p.Lys1912Thr)	EPG5 (K1912T)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2251119	NM_020964.3(EPG5):c.5714G>A (p.Arg1905Gln)	EPG5 (R1905Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601642	NM_020964.3(EPG5):c.5699T>G (p.Phe1900Cys)	EPG5 (F1900C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 534594	NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn)	EPG5 (S1879N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1440822	NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg)	EPG5 (G1868R)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 520676	NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp)	EPG5 (G1868W)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 1004938	NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser)	EPG5 (A1862S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2337742	NM_020964.3(EPG5):c.5407C>G (p.Pro1803Ala)	EPG5 (P1803A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089495	NM_020964.3(EPG5):c.5386C>G (p.Leu1796Val)	EPG5 (L1796V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521976	NM_020964.3(EPG5):c.5356A>T (p.Thr1786Ser)	EPG5 (T1786S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089494	NM_020964.3(EPG5):c.5354G>A (p.Arg1785His)	EPG5 (R1785H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279111	NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)	EPG5 (K1772*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2410000	NM_020964.3(EPG5):c.5170A>G (p.Ser1724Gly)	EPG5 (S1724G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 838602	NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile)	EPG5 (V1716I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1396362	NM_020964.3(EPG5):c.5110G>A (p.Val1704Ile)	EPG5 (V1704I)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2609161	NM_020964.3(EPG5):c.5075A>T (p.Gln1692Leu)	EPG5 (Q1692L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406349	NM_020964.3(EPG5):c.5062C>G (p.Pro1688Ala)	EPG5 (P1688A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089492	NM_020964.3(EPG5):c.5057G>T (p.Arg1686Leu)	EPG5 (R1686L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542068	NM_020964.3(EPG5):c.5054A>T (p.Gln1685Leu)	EPG5 (Q1685L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 664489	NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met)	EPG5 (T1684M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1980717	NM_020964.3(EPG5):c.5044G>A (p.Asp1682Asn)	EPG5 (D1682N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 653777	NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala)	EPG5 (T1675A)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance

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