ClinVar for Gene (Select 55904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337237	NM_182931.3(KMT2E):c.4477C>T (p.Arg1493Ter)	KMT2E (R1451* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3336851	NM_182931.3(KMT2E):c.3469G>T (p.Val1157Phe)	KMT2E (V1157F)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 3289187	NM_182931.3(KMT2E):c.1429T>C (p.Ser477Pro)	KMT2E (S477P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289186	NM_182931.3(KMT2E):c.4471C>G (p.Pro1491Ala)	KMT2E (P1449A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289185	NM_182931.3(KMT2E):c.3848G>T (p.Gly1283Val)	KMT2E (G1283V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289183	NM_182931.3(KMT2E):c.3724G>T (p.Ala1242Ser)	KMT2E (A1242S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289182	NM_182931.3(KMT2E):c.3162C>A (p.Asp1054Glu)	KMT2E (D1054E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289181	NM_182931.3(KMT2E):c.5440C>T (p.His1814Tyr)	KMT2E (H1814Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289180	NM_182931.3(KMT2E):c.1389A>C (p.Lys463Asn)	KMT2E (K463N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289179	NM_182931.3(KMT2E):c.965A>T (p.Asn322Ile)	KMT2E (N322I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289178	NM_182931.3(KMT2E):c.3953T>C (p.Phe1318Ser)	KMT2E (F1318S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289177	NM_182931.3(KMT2E):c.3995C>A (p.Pro1332His)	KMT2E (P1332H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254806	NM_182931.3(KMT2E):c.2621G>A (p.Arg874Gln)	KMT2E (R874Q)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3252669	NM_182931.3(KMT2E):c.1429T>A (p.Ser477Thr)	KMT2E (S477T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252452	NM_182931.3(KMT2E):c.68C>T (p.Ser23Leu)	KMT2E (S23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245924	NC_000007.13:g.(?_104456677)_(105207758_?)del	SRPK2, KMT2E +3 more	Deletion	not provided	GPathogenic
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	LAMB4, LHFPL3 +29 more	Deletion	not provided	GPathogenic
Select item 3242044	NM_182931.3(KMT2E):c.4952C>G (p.Ser1651Cys)	KMT2E (S1609C +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3237518	NM_182931.3(KMT2E):c.1698G>C (p.Gln566His)	KMT2E (Q566H)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3116071	NM_182931.3(KMT2E):c.790C>T (p.Pro264Ser)	KMT2E (P264S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116070	NM_182931.3(KMT2E):c.768+5A>G	KMT2E	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3116069	NM_182931.3(KMT2E):c.5333A>C (p.Gln1778Pro)	KMT2E (Q1736P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116067	NM_182931.3(KMT2E):c.4739C>G (p.Thr1580Ser)	KMT2E (T1538S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116066	NM_182931.3(KMT2E):c.4367C>G (p.Pro1456Arg)	KMT2E (P1456R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116064	NM_182931.3(KMT2E):c.3967G>A (p.Glu1323Lys)	KMT2E (E1323K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116063	NM_182931.3(KMT2E):c.3884T>C (p.Val1295Ala)	KMT2E (V1295A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116061	NM_182931.3(KMT2E):c.3296T>G (p.Phe1099Cys)	KMT2E (F1099C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116060	NM_182931.3(KMT2E):c.2632C>T (p.Gln878Ter)	KMT2E (Q878*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3116059	NM_182931.3(KMT2E):c.2627T>A (p.Phe876Tyr)	KMT2E (F876Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116058	NM_182931.3(KMT2E):c.1235C>T (p.Thr412Ile)	KMT2E (T412I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075986	NM_182931.3(KMT2E):c.544dup (p.Glu182fs)	KMT2E (E182fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075705	NM_182931.3(KMT2E):c.2181_2182insTTGC (p.Pro728fs)	KMT2E (P728fs)	Insertion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3067982	NM_182931.3(KMT2E):c.730-6_730-2del	KMT2E	Deletion (splice acceptor variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3062121	NM_182931.3(KMT2E):c.2555del (p.Asn852fs)	KMT2E (N852fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3061870	NM_182931.3(KMT2E):c.702_705del (p.Lys234fs)	KMT2E (K234fs)	Microsatellite (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3061294	NM_182931.3(KMT2E):c.4130_4132delinsT (p.Asp1377fs)	KMT2E (D1335fs +1 more)	Indel (frameshift variant)	KMT2E-related disorder	GLikely pathogenic
Select item 3060867	NM_182931.3(KMT2E):c.5037A>C (p.Pro1679=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3059431	NM_182931.3(KMT2E):c.5043A>C (p.Pro1681=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3058229	NM_182931.3(KMT2E):c.1224G>A (p.Arg408=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3046519	NM_182931.3(KMT2E):c.3432G>A (p.Gly1144=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3040402	NM_182931.3(KMT2E):c.1188T>C (p.Asp396=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3039759	NM_182931.3(KMT2E):c.3579C>T (p.Ser1193=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3037093	NM_182931.3(KMT2E):c.1359-5T>C	KMT2E	Single nucleotide variant (intron variant)	KMT2E-related disorder	GLikely benign
Select item 3034650	NM_182931.3(KMT2E):c.3838G>C (p.Asp1280His)	KMT2E (D1280H)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3017253	NM_182931.3(KMT2E):c.2847+10T>A	KMT2E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3016657	NM_182931.3(KMT2E):c.281C>T (p.Thr94Ile)	KMT2E (T94I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3016246	NM_182931.3(KMT2E):c.4374A>G (p.Thr1458=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016245	NM_182931.3(KMT2E):c.769-6T>A	KMT2E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015892	NM_182931.3(KMT2E):c.3270G>A (p.Ser1090=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015598	NM_182931.3(KMT2E):c.142A>G (p.Ser48Gly)	KMT2E (S48G)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3009114	NM_182931.3(KMT2E):c.4934A>G (p.Asn1645Ser)	KMT2E (N1645S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008885	NM_182931.3(KMT2E):c.1157C>G (p.Ser386Cys)	KMT2E (S386C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990285	NM_182931.3(KMT2E):c.3399C>T (p.Phe1133=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987414	NM_182931.3(KMT2E):c.5269A>G (p.Thr1757Ala)	KMT2E (T1757A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982220	NM_182931.3(KMT2E):c.3665C>T (p.Thr1222Ile)	KMT2E (T1222I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969452	NM_182931.3(KMT2E):c.3617G>C (p.Gly1206Ala)	KMT2E (G1206A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962551	NM_182931.3(KMT2E):c.3876G>A (p.Pro1292=)	KMT2E	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958486	NM_182931.3(KMT2E):c.5007T>A (p.His1669Gln)	KMT2E (H1627Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2956254	NM_182931.3(KMT2E):c.5163G>A (p.Pro1721=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956221	NM_182931.3(KMT2E):c.2915G>A (p.Arg972Lys)	KMT2E (R972K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919528	NM_182931.3(KMT2E):c.4345A>G (p.Asn1449Asp)	KMT2E (N1407D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2919025	NM_182931.3(KMT2E):c.5355T>C (p.His1785=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2915432	NM_182931.3(KMT2E):c.3269C>T (p.Ser1090Leu)	KMT2E (S1090L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913292	NM_182931.3(KMT2E):c.4662G>A (p.Ser1554=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911176	NM_182931.3(KMT2E):c.5441A>G (p.His1814Arg)	KMT2E (H1814R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910557	NM_182931.3(KMT2E):c.988C>T (p.Pro330Ser)	KMT2E (P330S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2909511	NM_182931.3(KMT2E):c.4990C>A (p.Pro1664Thr)	KMT2E (P1622T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907980	NM_182931.3(KMT2E):c.1624-10C>A	KMT2E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2905093	NM_182931.3(KMT2E):c.4161C>T (p.Ser1387=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903991	NM_182931.3(KMT2E):c.783G>A (p.Glu261=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903644	NM_182931.3(KMT2E):c.4998G>A (p.Ser1666=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903505	NM_182931.3(KMT2E):c.4590A>G (p.Thr1530=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903016	NM_182931.3(KMT2E):c.2646G>C (p.Ser882=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902520	NM_182931.3(KMT2E):c.5088A>G (p.Pro1696=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902196	NM_182931.3(KMT2E):c.3412A>G (p.Asn1138Asp)	KMT2E (N1138D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901610	NM_182931.3(KMT2E):c.4062G>A (p.Met1354Ile)	KMT2E (M1312I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899549	NM_182931.3(KMT2E):c.4365G>A (p.Thr1455=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898294	NM_182931.3(KMT2E):c.3216C>T (p.Asp1072=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898163	NM_182931.3(KMT2E):c.4107C>T (p.His1369=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897182	NM_182931.3(KMT2E):c.4661C>T (p.Ser1554Leu)	KMT2E (S1512L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896203	NM_182931.3(KMT2E):c.5118A>C (p.Gln1706His)	KMT2E (Q1706H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895198	NM_182931.3(KMT2E):c.576T>C (p.Thr192=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893162	NM_182931.3(KMT2E):c.3404G>A (p.Arg1135Gln)	KMT2E (R1135Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2890889	NM_182931.3(KMT2E):c.3164C>T (p.Ser1055Leu)	KMT2E (S1055L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2890417	NM_182931.3(KMT2E):c.1485C>G (p.Asp495Glu)	KMT2E (D495E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884564	NM_182931.3(KMT2E):c.2631T>C (p.Tyr877=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 2884251	NM_182931.3(KMT2E):c.2275C>T (p.Arg759Cys)	KMT2E (R759C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882712	NM_182931.3(KMT2E):c.3430G>A (p.Gly1144Arg)	KMT2E (G1144R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882092	NM_182931.3(KMT2E):c.729+18T>A	KMT2E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881739	NM_182931.3(KMT2E):c.2914A>C (p.Arg972=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881644	NM_182931.3(KMT2E):c.81C>T (p.Ser27=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881510	NM_182931.3(KMT2E):c.2018T>C (p.Met673Thr)	KMT2E (M673T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881422	NM_182931.3(KMT2E):c.536G>A (p.Arg179Gln)	KMT2E (R179Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880888	NM_182931.3(KMT2E):c.2655A>C (p.Ser885=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880863	NM_182931.3(KMT2E):c.4063A>G (p.Ser1355Gly)	KMT2E (S1313G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2880861	NM_182931.3(KMT2E):c.1466G>A (p.Arg489Gln)	KMT2E (R489Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880590	NM_182931.3(KMT2E):c.2445C>T (p.Cys815=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2880445	NM_182931.3(KMT2E):c.4443_4475dup (p.Pro1491_Gln1492insHisHisSerGlnSerProGlnValGlyThrPro)	KMT2E	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2880333	NM_182931.3(KMT2E):c.280A>T (p.Thr94Ser)	KMT2E (T94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879864	NM_182931.3(KMT2E):c.1675G>A (p.Val559Ile)	KMT2E (V559I)	Single nucleotide variant (missense variant)	not provided	GBenign

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