Related gene-specific medical variations for Gene (Select 8085) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372276	NM_003482.4(KMT2D):c.3583A>T (p.Thr1195Ser)	KMT2D, LOC126861520 (T1195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370301	NM_003482.4(KMT2D):c.10970_10980delinsA (p.Leu3657fs)	KMT2D (L3657fs)	Indel (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 3370295	NM_003482.4(KMT2D):c.2288del (p.Pro763fs)	KMT2D (P763fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 3367118	NM_003482.4(KMT2D):c.3919A>G (p.Ser1307Gly)	KMT2D, LOC126861520 (S1307G)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3366290	NM_003482.4(KMT2D):c.9735dup (p.Pro3246fs)	KMT2D (P3246fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 3362636	NM_003482.4(KMT2D):c.5812AGC[1] (p.Ser1939del)	KMT2D (S1939del)	Microsatellite	Kabuki syndrome 1	GUncertain significance
Select item 3362314	NM_003482.4(KMT2D):c.3064C>A (p.Pro1022Thr)	KMT2D (P1022T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3362139	NM_003482.4(KMT2D):c.16601A>G (p.Lys5534Arg)	KMT2D (K5534R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361949	NM_003482.4(KMT2D):c.14632C>T (p.Leu4878Phe)	KMT2D (L4878F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361918	NM_003482.4(KMT2D):c.2250_2330del (p.His751_Pro777del)	KMT2D	Deletion (inframe_indel +1 more)	not provided	GLikely pathogenic
Select item 3361581	NM_003482.4(KMT2D):c.865_867dup (p.Leu289_Val290insLeu)	KMT2D	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3361068	NM_003482.4(KMT2D):c.15613C>T (p.Leu5205Phe)	KMT2D (L5205F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361067	NM_003482.4(KMT2D):c.15214A>G (p.Thr5072Ala)	KMT2D (T5072A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360991	NM_003482.4(KMT2D):c.13079C>T (p.Pro4360Leu)	KMT2D (P4360L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360725	NM_003482.4(KMT2D):c.967T>A (p.Cys323Ser)	KMT2D (C323S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360480	NM_003482.4(KMT2D):c.12082A>G (p.Thr4028Ala)	KMT2D (T4028A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359931	NM_003482.4(KMT2D):c.652A>G (p.Ser218Gly)	KMT2D (S218G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359888	NM_003482.4(KMT2D):c.3604T>G (p.Ser1202Ala)	KMT2D (S1202A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359467	NM_003482.4(KMT2D):c.8123C>T (p.Ala2708Val)	KMT2D (A2708V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359437	NM_003482.4(KMT2D):c.6176C>T (p.Pro2059Leu)	KMT2D (P2059L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347747	NM_003482.4(KMT2D):c.3501G>T (p.Glu1167Asp)	KMT2D, LOC126861520 (E1167D)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 3347592	NM_003482.4(KMT2D):c.3723G>A (p.Glu1241=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 3346798	NM_003482.4(KMT2D):c.3755G>A (p.Arg1252Gln)	KMT2D, LOC126861520 (R1252Q)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 3344146	NM_003482.4(KMT2D):c.3822T>G (p.Asp1274Glu)	KMT2D, LOC126861520 (D1274E)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GLikely benign
Select item 3337902	NM_003482.4(KMT2D):c.-922G>A	KMT2D, LOC130007817	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3336304	NM_003482.4(KMT2D):c.3477G>A (p.Glu1159=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3244284	NC_000012.11:g.(?_49419036)_(49424698_?)del	KMT2D	Deletion	Kabuki syndrome	GLikely pathogenic
Select item 3244283	NC_000012.11:g.(?_49432593)_(49433761_?)del	KMT2D	Deletion	Kabuki syndrome	GPathogenic
Select item 3238861	NM_003482.4(KMT2D):c.4841G>A (p.Arg1614Gln)	KMT2D (R1614Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3238780	NM_003482.4(KMT2D):c.4418+63T>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome 1	GUncertain significance
Select item 3068008	NM_003482.4(KMT2D):c.4352G>C (p.Ser1451Thr)	KMT2D (S1451T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3065903	NM_003482.4(KMT2D):c.8183C>T (p.Ala2728Val)	KMT2D (A2728V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3065754	NM_003482.4(KMT2D):c.6894C>G (p.Ser2298Arg)	KMT2D (S2298R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3065497	NM_003482.4(KMT2D):c.11733_11756dup (p.Gln3925_Leu3926insGlnGlnLeuGlnGlnGlnGlnGln)	KMT2D	Duplication (inframe_insertion)	Kabuki syndrome 1	GUncertain significance
Select item 3065270	NM_003482.4(KMT2D):c.11674C>T (p.Gln3892Ter)	KMT2D (Q3892*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 3062055	NM_003482.4(KMT2D):c.11806C>T (p.Gln3936Ter)	KMT2D (Q3936*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 3055866	NM_003482.4(KMT2D):c.3579C>T (p.Ala1193=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 3047160	NM_003482.4(KMT2D):c.3773G>A (p.Arg1258Gln)	KMT2D, LOC126861520 (R1258Q)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 3044758	NM_003482.4(KMT2D):c.3864G>A (p.Lys1288=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 3036155	NM_003482.4(KMT2D):c.3879C>T (p.Ser1293=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 3033460	NM_003482.4(KMT2D):c.3649A>C (p.Ser1217Arg)	KMT2D, LOC126861520 (S1217R)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 3031289	NM_003482.4(KMT2D):c.3702G>T (p.Gly1234=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 3022945	NM_003482.4(KMT2D):c.3906+7G>A	KMT2D, LOC126861520	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3020623	NM_003482.4(KMT2D):c.3841G>A (p.Gly1281Arg)	KMT2D, LOC126861520 (G1281R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 3019155	NM_003482.4(KMT2D):c.3728G>A (p.Gly1243Glu)	KMT2D, LOC126861520 (G1243E)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2995161	NM_003482.4(KMT2D):c.3481G>A (p.Ala1161Thr)	KMT2D, LOC126861520 (A1161T)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2974467	NM_003482.4(KMT2D):c.3935G>A (p.Arg1312His)	KMT2D, LOC126861520 (R1312H)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2973750	NM_003482.4(KMT2D):c.3655A>G (p.Ser1219Gly)	KMT2D, LOC126861520 (S1219G)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2970480	NM_003482.4(KMT2D):c.3453C>A (p.Ser1151=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 2920706	NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)	KMT2D (P2400fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2908610	NM_003482.4(KMT2D):c.3493C>T (p.Pro1165Ser)	KMT2D, LOC126861520 (P1165S)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2888777	NM_003482.4(KMT2D):c.3605C>G (p.Ser1202Cys)	KMT2D, LOC126861520 (S1202C)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2871306	NM_003482.4(KMT2D):c.3695C>G (p.Pro1232Arg)	KMT2D, LOC126861520 (P1232R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2863336	NM_003482.4(KMT2D):c.3708C>G (p.Gly1236=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2854515	NM_003482.4(KMT2D):c.3768C>T (p.Ser1256=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2853289	NM_003482.4(KMT2D):c.3706G>A (p.Gly1236Ser)	KMT2D, LOC126861520 (G1236S)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2842568	NM_003482.4(KMT2D):c.3504C>A (p.Val1168=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2828726	NM_003482.4(KMT2D):c.3906+15A>G	KMT2D, LOC126861520	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2820209	NM_003482.4(KMT2D):c.3572C>G (p.Pro1191Arg)	KMT2D, LOC126861520 (P1191R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2799031	NM_003482.4(KMT2D):c.3619G>A (p.Glu1207Lys)	KMT2D, LOC126861520 (E1207K)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2795381	NM_003482.4(KMT2D):c.3907-6A>T	KMT2D, LOC126861520	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2787369	NM_003482.4(KMT2D):c.3509C>T (p.Pro1170Leu)	KMT2D, LOC126861520 (P1170L)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2787057	NM_003482.4(KMT2D):c.3550G>A (p.Glu1184Lys)	KMT2D, LOC126861520 (E1184K)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2766253	NM_003482.4(KMT2D):c.3541C>T (p.Pro1181Ser)	LOC126861520, KMT2D (P1181S)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2761752	NM_003482.4(KMT2D):c.4020+8G>C	KMT2D, LOC126861520	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2727409	NM_003482.4(KMT2D):c.3934C>T (p.Arg1312Cys)	KMT2D, LOC126861520 (R1312C)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 2715549	NM_003482.4(KMT2D):c.3837C>T (p.Ile1279=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 2712340	NM_003482.4(KMT2D):c.3944G>A (p.Arg1315His)	KMT2D, LOC126861520 (R1315H)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2690631	NM_003482.4(KMT2D):c.14417_14424del (p.Leu4806fs)	KMT2D (L4806fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2689334	NM_003482.4(KMT2D):c.12481G>C (p.Glu4161Gln)	KMT2D (E4161Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689333	NM_003482.4(KMT2D):c.9727A>G (p.Ser3243Gly)	KMT2D (S3243G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689332	NM_003482.4(KMT2D):c.5826C>A (p.Asp1942Glu)	KMT2D (D1942E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2687917	NM_003482.4(KMT2D):c.6180C>G (p.Tyr2060Ter)	KMT2D (Y2060*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2687916	NM_003482.4(KMT2D):c.8292del (p.Ser2765fs)	KMT2D (S2765fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2687915	NM_003482.4(KMT2D):c.16236del (p.Leu5411_Tyr5412insTer)	KMT2D	Deletion (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2687914	NM_003482.4(KMT2D):c.588del (p.Cys197fs)	KMT2D (C197fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2687913	NM_003482.4(KMT2D):c.5652dup (p.Lys1885fs)	KMT2D (K1885fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2687912	NM_003482.4(KMT2D):c.11176del (p.Gln3726fs)	KMT2D (Q3726fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2687911	NM_003482.4(KMT2D):c.10920dup (p.Leu3641fs)	KMT2D (L3641fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2687910	NM_003482.4(KMT2D):c.6596del (p.Tyr2199fs)	KMT2D (Y2199fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2687909	NM_003482.4(KMT2D):c.16238C>T (p.Ala5413Val)	KMT2D (A5413V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2687908	NM_003482.4(KMT2D):c.11063G>C (p.Gly3688Ala)	KMT2D (G3688A)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 2687906	NM_003482.4(KMT2D):c.13622A>G (p.Lys4541Arg)	KMT2D (K4541R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2687905	NM_003482.4(KMT2D):c.5990C>T (p.Ser1997Phe)	KMT2D (S1997F)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 2687904	NM_003482.4(KMT2D):c.701G>A (p.Gly234Glu)	KMT2D (G234E)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 2687903	NM_003482.4(KMT2D):c.3169C>T (p.Pro1057Ser)	KMT2D (P1057S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 2687902	NM_003482.4(KMT2D):c.9613G>A (p.Gly3205Arg)	KMT2D (G3205R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 2687901	NM_003482.4(KMT2D):c.9010G>C (p.Glu3004Gln)	KMT2D (E3004Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GPathogenic
Select item 2687900	NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter)	KMT2D (Q4503*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic/Likely pathogenic
Select item 2683916	NM_003482.4(KMT2D):c.12735_12748del (p.Glu4245fs)	KMT2D (E4245fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2672500	NM_003482.4(KMT2D):c.3650G>A (p.Ser1217Asn)	KMT2D, LOC126861520 (S1217N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664028	NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro)	KMT2D (L1618P)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2642962	NM_003482.4(KMT2D):c.3684C>T (p.Gly1228=)	KMT2D, LOC126861520	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642961	NM_003482.4(KMT2D):c.3770T>C (p.Leu1257Pro)	LOC126861520, KMT2D (L1257P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642960	NM_003482.4(KMT2D):c.3875G>A (p.Arg1292His)	KMT2D, LOC126861520 (R1292H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642959	NM_003482.4(KMT2D):c.4007T>C (p.Ile1336Thr)	KMT2D, LOC126861520 (I1336T)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GLikely benign
Select item 2635863	NM_003482.4(KMT2D):c.3710C>T (p.Ser1237Phe)	KMT2D, LOC126861520 (S1237F)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 2593784	NM_003482.4(KMT2D):c.3994A>G (p.Thr1332Ala)	KMT2D, LOC126861520 (T1332A)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GBenign/Likely benign
Select item 2582449	NM_003482.4(KMT2D):c.1603C>T (p.Pro535Ser)	KMT2D (P535S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2582397	NM_003482.4(KMT2D):c.11138C>G (p.Ser3713Ter)	KMT2D (S3713*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic

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