ClinVar for Gene (Select 83481) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 462

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344784	NM_031308.4(EPPK1):c.6314C>A (p.Ala2105Glu)	EPPK1 (A2105E)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GUncertain significance
Select item 3276074	NM_031308.4(EPPK1):c.2104C>T (p.Leu702Phe)	EPPK1 (L702F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276073	NM_031308.4(EPPK1):c.2248G>T (p.Asp750Tyr)	EPPK1 (D750Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276072	NM_031308.4(EPPK1):c.2029G>A (p.Val677Met)	EPPK1 (V677M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276071	NM_031308.4(EPPK1):c.2977G>T (p.Val993Leu)	EPPK1 (V993L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276070	NM_031308.4(EPPK1):c.289A>G (p.Lys97Glu)	EPPK1 (K97E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276069	NM_031308.4(EPPK1):c.5146C>T (p.Arg1716Cys)	EPPK1 (R1716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276067	NM_031308.4(EPPK1):c.1336C>G (p.Leu446Val)	EPPK1 (L446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276066	NM_031308.4(EPPK1):c.3008G>A (p.Arg1003Gln)	EPPK1 (R1003Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276065	NM_031308.4(EPPK1):c.5380G>A (p.Val1794Ile)	EPPK1 (V1794I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276064	NM_031308.4(EPPK1):c.2731A>G (p.Ile911Val)	EPPK1 (I911V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3276062	NM_031308.4(EPPK1):c.1012T>C (p.Trp338Arg)	EPPK1 (W338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276061	NM_031308.4(EPPK1):c.5339G>C (p.Arg1780Thr)	EPPK1 (R1780T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276060	NM_031308.4(EPPK1):c.5156C>T (p.Ala1719Val)	EPPK1 (A1719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276059	NM_031308.4(EPPK1):c.853G>A (p.Gly285Ser)	EPPK1 (G285S)	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 3276056	NM_031308.4(EPPK1):c.5107G>A (p.Val1703Met)	EPPK1 (V1703M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089852	NM_031308.4(EPPK1):c.832C>T (p.Arg278Trp)	EPPK1 (R278W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089851	NM_031308.4(EPPK1):c.811G>A (p.Val271Met)	EPPK1 (V271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3089847	NM_031308.4(EPPK1):c.6425T>C (p.Met2142Thr)	EPPK1 (M2142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3089844	NM_031308.4(EPPK1):c.5326G>T (p.Val1776Leu)	EPPK1 (V1776L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089843	NM_031308.4(EPPK1):c.5233C>T (p.Arg1745Cys)	EPPK1 (R1745C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089842	NM_031308.4(EPPK1):c.5144A>C (p.Asn1715Thr)	EPPK1 (N1715T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089841	NM_031308.4(EPPK1):c.5136G>C (p.Glu1712Asp)	EPPK1 (E1712D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089840	NM_031308.4(EPPK1):c.5120G>A (p.Cys1707Tyr)	EPPK1 (C1707Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089839	NM_031308.4(EPPK1):c.4264G>A (p.Val1422Met)	EPPK1 (V1422M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089838	NM_031308.4(EPPK1):c.412G>A (p.Gly138Arg)	EPPK1 (G138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089837	NM_031308.4(EPPK1):c.4051G>A (p.Glu1351Lys)	EPPK1 (E1351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089836	NM_031308.4(EPPK1):c.3982C>G (p.Pro1328Ala)	EPPK1 (P1328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089835	NM_031308.4(EPPK1):c.3971C>T (p.Ala1324Val)	EPPK1 (A1324V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089834	NM_031308.4(EPPK1):c.3964A>G (p.Arg1322Gly)	EPPK1 (R1322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089833	NM_031308.4(EPPK1):c.3592G>A (p.Gly1198Ser)	EPPK1 (G1198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089832	NM_031308.4(EPPK1):c.352G>A (p.Ala118Thr)	EPPK1 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089831	NM_031308.4(EPPK1):c.3472C>T (p.Arg1158Trp)	EPPK1 (R1158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089830	NM_031308.4(EPPK1):c.3471A>C (p.Gln1157His)	EPPK1 (Q1157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089829	NM_031308.4(EPPK1):c.3331C>T (p.His1111Tyr)	EPPK1 (H1111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089828	NM_031308.4(EPPK1):c.3168C>A (p.His1056Gln)	EPPK1 (H1056Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089827	NM_031308.4(EPPK1):c.3101A>G (p.Glu1034Gly)	EPPK1 (E1034G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089826	NM_031308.4(EPPK1):c.2962G>A (p.Val988Met)	EPPK1 (V988M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089824	NM_031308.4(EPPK1):c.2917A>G (p.Ile973Val)	EPPK1 (I973V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089822	NM_031308.4(EPPK1):c.2659G>A (p.Val887Ile)	EPPK1 (V887I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089821	NM_031308.4(EPPK1):c.262G>A (p.Ala88Thr)	EPPK1 (A88T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089820	NM_031308.4(EPPK1):c.25C>T (p.Leu9Phe)	EPPK1 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089819	NM_031308.4(EPPK1):c.2473C>T (p.Arg825Trp)	EPPK1 (R825W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089818	NM_031308.4(EPPK1):c.2461G>A (p.Val821Met)	EPPK1 (V821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089817	NM_031308.4(EPPK1):c.2360G>A (p.Arg787His)	EPPK1 (R787H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089816	NM_031308.4(EPPK1):c.2253G>C (p.Gln751His)	EPPK1 (Q751H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089815	NM_031308.4(EPPK1):c.2233C>T (p.Arg745Trp)	EPPK1 (R745W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089814	NM_031308.4(EPPK1):c.2173G>A (p.Ala725Thr)	EPPK1 (A725T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089813	NM_031308.4(EPPK1):c.2146G>A (p.Gly716Ser)	EPPK1 (G716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089812	NM_031308.4(EPPK1):c.2098A>C (p.Ile700Leu)	EPPK1 (I700L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089810	NM_031308.4(EPPK1):c.1387C>A (p.Leu463Ile)	EPPK1 (L463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089808	NM_031308.4(EPPK1):c.1294C>G (p.Leu432Val)	EPPK1 (L432V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089807	NM_031308.4(EPPK1):c.1289G>A (p.Arg430Gln)	EPPK1 (R430Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061564	NM_031308.4(EPPK1):c.4614G>A (p.Leu1538=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3061548	NM_031308.4(EPPK1):c.1716G>C (p.Leu572=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
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 3059774	NM_031308.4(EPPK1):c.4917C>T (p.Tyr1639=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3058832	NM_031308.4(EPPK1):c.4590C>G (p.Ala1530=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3058081	NM_031308.4(EPPK1):c.4941C>T (p.Arg1647=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3056769	NM_031308.4(EPPK1):c.4869G>C (p.Leu1623=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3055106	NM_031308.4(EPPK1):c.70A>C (p.Arg24=)	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 3054914	NM_031308.4(EPPK1):c.6039G>A (p.Thr2013=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054804	NM_031308.4(EPPK1):c.2238C>T (p.Arg746=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054754	NM_031308.4(EPPK1):c.717C>T (p.Gly239=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054753	NM_031308.4(EPPK1):c.490G>A (p.Ala164Thr)	EPPK1 (A164T)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3054568	NM_031308.4(EPPK1):c.5355C>T (p.Arg1785=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054482	NM_031308.4(EPPK1):c.3264C>T (p.Asp1088=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054447	NM_031308.4(EPPK1):c.3634G>A (p.Gly1212Ser)	EPPK1 (G1212S)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3054328	NM_031308.4(EPPK1):c.2651G>A (p.Arg884Gln)	EPPK1 (R884Q)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3054292	NM_031308.4(EPPK1):c.4629G>A (p.Thr1543=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054228	NM_031308.4(EPPK1):c.2571C>T (p.Arg857=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3054000	NM_031308.4(EPPK1):c.2664C>T (p.Thr888=)	EPPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053987	NM_031308.4(EPPK1):c.4110C>T (p.His1370=)	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 3053822	NM_031308.4(EPPK1):c.1283_1286del (p.Thr428fs)	EPPK1 (T428fs)	Deletion (frameshift variant)	EPPK1-related disorder	GBenign
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 3053737	NM_031308.4(EPPK1):c.6463G>A (p.Ala2155Thr)	EPPK1 (A2155T)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3053721	NM_031308.4(EPPK1):c.4226G>A (p.Arg1409Gln)	EPPK1 (R1409Q)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3053669	NM_031308.4(EPPK1):c.1749C>T (p.Tyr583=)	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 3053626	NM_031308.4(EPPK1):c.5590G>A (p.Val1864Ile)	EPPK1 (V1864I)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3053621	NM_031308.4(EPPK1):c.4635C>T (p.Asp1545=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3053571	NM_031308.4(EPPK1):c.3274C>T (p.Arg1092Cys)	EPPK1 (R1092C)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GLikely benign
Select item 3053521	NM_031308.4(EPPK1):c.1478C>T (p.Thr493Met)	EPPK1 (T493M)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
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 3053460	NM_031308.4(EPPK1):c.6559C>T (p.Leu2187Phe)	EPPK1 (L2187F)	Single nucleotide variant (missense variant)	EPPK1-related disorder	GBenign
Select item 3053411	NM_031308.4(EPPK1):c.1320C>T (p.Asp440=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3053162	NM_031308.4(EPPK1):c.3462C>T (p.Thr1154=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GBenign
Select item 3053104	NM_031308.4(EPPK1):c.177C>T (p.Ala59=)	EPPK1	Single nucleotide variant (synonymous variant)	EPPK1-related disorder	GLikely benign
Select item 3053044	NM_031308.4(EPPK1):c.5117G>A (p.Arg1706His)	EPPK1 (R1706H)	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

<< First< Prev

Page of 5