ClinVar for Gene (Select 55904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378046	NM_182931.3(KMT2E):c.2608C>T (p.Pro870Ser)	KMT2E (P870S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376547	NM_182931.3(KMT2E):c.1624_1625del (p.Glu542fs)	KMT2E (E542fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376546	NM_182931.3(KMT2E):c.1624G>T (p.Glu542Ter)	KMT2E (E542*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376545	NM_182931.3(KMT2E):c.923del (p.Gly308fs)	KMT2E (G308fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376544	NM_182931.3(KMT2E):c.71+1G>C	KMT2E	Single nucleotide variant (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376245	NM_182931.3(KMT2E):c.5260G>T (p.Ala1754Ser)	KMT2E (A1712S +1 more)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3376113	NM_182931.3(KMT2E):c.5428G>C (p.Gly1810Arg)	KMT2E (G1768R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375899	NM_182931.3(KMT2E):c.863A>G (p.Asn288Ser)	KMT2E (N288S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375717	NM_182931.3(KMT2E):c.4870G>A (p.Ala1624Thr)	KMT2E (A1582T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373439	NM_182931.3(KMT2E):c.1060C>T (p.Leu354Phe)	KMT2E (L354F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372893	NM_182931.3(KMT2E):c.1010A>T (p.Gln337Leu)	KMT2E (Q337L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372558	NM_182931.3(KMT2E):c.5360C>T (p.Pro1787Leu)	KMT2E (P1745L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371986	NM_182931.3(KMT2E):c.4985T>G (p.Val1662Gly)	KMT2E (V1620G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371482	NM_182931.3(KMT2E):c.22G>C (p.Gly8Arg)	KMT2E (G8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370826	NM_182931.3(KMT2E):c.5405G>C (p.Ser1802Thr)	KMT2E (S1760T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370647	NM_182931.3(KMT2E):c.1580A>T (p.Gln527Leu)	KMT2E (Q527L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368539	NM_182931.3(KMT2E):c.5511dup (p.Pro1838fs)	KMT2E (P1796fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3368272	NM_182931.3(KMT2E):c.3304A>G (p.Ser1102Gly)	KMT2E (S1102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368217	NM_182931.3(KMT2E):c.5086C>T (p.Pro1696Ser)	KMT2E (P1654S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367887	NM_182931.3(KMT2E):c.5172_5183del (p.Val1726_Ser1729del)	KMT2E	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3367075	NM_182931.3(KMT2E):c.419T>A (p.Val140Asp)	KMT2E (V140D)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3366769	NM_182931.3(KMT2E):c.600G>A (p.Val200=)	KMT2E	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366155	NM_182931.3(KMT2E):c.2130AAT[1] (p.Ile712del)	KMT2E (I712del)	Microsatellite	not provided	GUncertain significance
Select item 3366027	NM_182931.3(KMT2E):c.1454A>G (p.Tyr485Cys)	KMT2E (Y485C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365723	NM_182931.3(KMT2E):c.2690C>A (p.Thr897Lys)	KMT2E (T897K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363851	NM_182931.3(KMT2E):c.4044_4064inv (p.Lys1349_Ser1355delinsSerPheLeuGluAspPheTyr)	KMT2E	Inversion (missense variant)	not provided	GUncertain significance
Select item 3363320	NM_182931.3(KMT2E):c.3030C>A (p.Asn1010Lys)	KMT2E (N1010K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361727	NM_182931.3(KMT2E):c.182A>G (p.Tyr61Cys)	KMT2E (Y61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361582	NM_182931.3(KMT2E):c.2990C>A (p.Thr997Asn)	KMT2E (T997N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361328	NM_182931.3(KMT2E):c.4354A>G (p.Lys1452Glu)	KMT2E (K1410E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361086	NM_182931.3(KMT2E):c.2624G>A (p.Arg875Lys)	KMT2E (R875K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360959	NM_182931.3(KMT2E):c.1988A>T (p.Gln663Leu)	KMT2E (Q663L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360742	NM_182931.3(KMT2E):c.3404_3405delinsTT (p.Arg1135Leu)	KMT2E (R1135L)	Indel (missense variant)	not provided	GUncertain significance
Select item 3360055	NM_182931.3(KMT2E):c.379C>G (p.His127Asp)	KMT2E (H127D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359918	NM_182931.3(KMT2E):c.1757A>C (p.Gln586Pro)	KMT2E (Q586P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359766	NM_182931.3(KMT2E):c.4117T>G (p.Phe1373Val)	KMT2E (F1331V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359325	NM_182931.3(KMT2E):c.5299CAT[1] (p.His1768del)	KMT2E (H1726del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359299	NM_182931.3(KMT2E):c.5464C>T (p.His1822Tyr)	KMT2E (H1780Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359091	NM_182931.3(KMT2E):c.3970+1G>T	KMT2E	Single nucleotide variant (splice donor variant +1 more)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 3352268	NM_182931.3(KMT2E):c.1508A>G (p.Asp503Gly)	KMT2E (D503G)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3347935	NM_182931.3(KMT2E):c.254G>A (p.Ser85Asn)	KMT2E (S85N)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3347542	NM_182931.3(KMT2E):c.1112A>G (p.Asn371Ser)	KMT2E (N371S)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3346953	NM_182931.3(KMT2E):c.714T>G (p.Ile238Met)	KMT2E (I238M)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3346887	NM_182931.3(KMT2E):c.311C>G (p.Thr104Ser)	KMT2E (T104S)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3346150	NM_182931.3(KMT2E):c.2414_2418del (p.Lys805fs)	KMT2E (K805fs)	Microsatellite (frameshift variant)	KMT2E-related disorder	GLikely pathogenic
Select item 3346084	NM_182931.3(KMT2E):c.3210C>A (p.Ser1070Arg)	KMT2E (S1070R)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3345039	NM_182931.3(KMT2E):c.5366C>T (p.Pro1789Leu)	KMT2E (P1747L +1 more)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3345024	NM_182931.3(KMT2E):c.1442T>C (p.Ile481Thr)	KMT2E (I481T)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3344342	NM_182931.3(KMT2E):c.3221C>T (p.Thr1074Ile)	KMT2E (T1074I)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3344269	NM_182931.3(KMT2E):c.347C>T (p.Thr116Ile)	KMT2E (T116I)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3342297	NM_182931.3(KMT2E):c.1130+3A>G	KMT2E	Single nucleotide variant (intron variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3341459	NM_182931.3(KMT2E):c.2963C>T (p.Thr988Ile)	KMT2E (T988I)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3341375	NM_182931.3(KMT2E):c.284dup (p.Pro95_Asn96insTer)	KMT2E	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 3340724	NM_182931.3(KMT2E):c.2196+1G>A	KMT2E	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3339069	NM_182931.3(KMT2E):c.240A>C (p.Pro80=)	KMT2E	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3338597	NM_182931.3(KMT2E):c.5375_5388del (p.Gly1792fs)	KMT2E (G1750fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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	KMT2E, LHFPL3 +3 more	Deletion	not provided	GPathogenic
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +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

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