ClinVar for MedGen (Select 893727) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 885

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3363170	NM_003482.4(KMT2D):c.13840-8C>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome 1	GUncertain significance
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 3341379	NM_003482.4(KMT2D):c.4995del (p.Lys1665fs)	KMT2D (K1665fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 3256913	NM_003482.4(KMT2D):c.13670A>C (p.Gln4557Pro)	KMT2D (Q4557P)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 3256596	NM_003482.4(KMT2D):c.15784+1_15784+2delinsAA	KMT2D	Indel (splice donor variant)	Kabuki syndrome 1	GPathogenic
Select item 3256595	NM_003482.4(KMT2D):c.15784+1G>C	KMT2D	Single nucleotide variant (splice donor variant)	Kabuki syndrome 1	GPathogenic
Select item 3255015	NM_003482.4(KMT2D):c.6613dup (p.Ala2205fs)	KMT2D (A2205fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 3254805	NM_003482.4(KMT2D):c.4742-1G>A	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 3242522	Single allele	KMT2D	Deletion	Kabuki syndrome 1	GLikely pathogenic
Select item 3242135	NM_003482.4(KMT2D):c.2399A>G (p.Gln800Arg)	KMT2D (Q800R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3241992	NM_003482.4(KMT2D):c.1940C>T (p.Pro647Leu)	KMT2D (P647L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3241980	NM_003482.4(KMT2D):c.7610C>T (p.Thr2537Ile)	KMT2D (T2537I)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
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 3236791	NM_003482.4(KMT2D):c.6187A>G (p.Lys2063Glu)	KMT2D (K2063E)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3235982	NM_003482.4(KMT2D):c.14068G>T (p.Asp4690Tyr)	KMT2D (D4690Y)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3235242	NM_003482.4(KMT2D):c.16306del (p.Ala5436fs)	KMT2D (A5436fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 3234900	NM_003482.4(KMT2D):c.11537G>C (p.Gly3846Ala)	KMT2D (G3846A)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3234047	NM_003482.4(KMT2D):c.1077_1108dup (p.Ser370fs)	KMT2D (S370fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 3220882	NM_003482.4(KMT2D):c.5107C>T (p.Gln1703Ter)	KMT2D (Q1703*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 3069195	NM_003482.4(KMT2D):c.9934C>T (p.Gln3312Ter)	KMT2D (Q3312*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
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 3028904	NM_003482.4(KMT2D):c.839G>A (p.Arg280Lys)	KMT2D (R280K)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 3024281	NM_003482.4(KMT2D):c.7985del (p.Pro2662fs)	KMT2D (P2662fs)	Deletion (frameshift variant)	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +1 more	GPathogenic
Select item 2920706	NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)	KMT2D (P2400fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2809808	NM_003482.4(KMT2D):c.7835C>G (p.Pro2612Arg)	KMT2D (P2612R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance
Select item 2691002	NM_003482.4(KMT2D):c.9009dup (p.Glu3004fs)	KMT2D (E3004fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
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 2687907	NM_003482.4(KMT2D):c.11846AACAGCAGC[1] (p.Gln3952_Gln3954del)	KMT2D	Microsatellite (inframe_indel +1 more)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
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 2664904	NM_003482.4(KMT2D):c.1753C>T (p.Pro585Ser)	KMT2D (P585S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2664709	NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)	KMT2D (L5020fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
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 2663819	NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs)	KMT2D (A4599fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2628341	NM_003482.4(KMT2D):c.4419-1G>C	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GPathogenic
Select item 2628340	NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs)	KMT2D (C346fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2628103	NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)	KMT2D (G2262fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2585601	NM_003482.4(KMT2D):c.3220G>T (p.Glu1074Ter)	KMT2D (E1074*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 2584490	NM_003482.4(KMT2D):c.1336del (p.Glu446fs)	KMT2D (E446fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2584474	NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)	KMT2D (E958fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
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
Select item 2582308	NM_003482.4(KMT2D):c.15424T>C (p.Cys5142Arg)	KMT2D (C5142R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2581160	NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr)	KMT2D (I1344T)	Single nucleotide variant (missense variant)	Kabuki syndrome	GBenign
Select item 2580988	NM_003482.4(KMT2D):c.3965del (p.Arg1322fs)	KMT2D, LOC126861520 (R1322fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2579159	NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)	KMT2D (R5154W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2577443	NM_003482.4(KMT2D):c.14719_14731del (p.Ser4907fs)	KMT2D (S4907fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2572993	NM_003482.4(KMT2D):c.955-1G>A	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GPathogenic
Select item 2572540	NM_003482.4(KMT2D):c.4379C>A (p.Pro1460Gln)	KMT2D (P1460Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2572479	NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)	KMT2D (Q3341*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 2506467	NM_003482.4(KMT2D):c.4771_4772del (p.Trp1591fs)	KMT2D (W1591fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2505527	NM_003482.4(KMT2D):c.8074C>T (p.Arg2692Trp)	KMT2D (R2692W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 2505198	NM_003482.4(KMT2D):c.50-2A>G	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GPathogenic
Select item 2502437	NM_003482.4(KMT2D):c.1193del (p.Gly398fs)	KMT2D (G398fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2501816	NM_003482.4(KMT2D):c.15626G>T (p.Gly5209Val)	KMT2D (G5209V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2501815	NM_003482.4(KMT2D):c.8077C>T (p.Gln2693Ter)	KMT2D (Q2693*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2500793	NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)	KMT2D (R3707*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2500784	NM_003482.4(KMT2D):c.3190del (p.Val1064fs)	KMT2D (V1064fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2500777	NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp)	KMT2D (R3539W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2500731	NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)	KMT2D (Q3400*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2500704	NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)	KMT2D (M2669fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2446761	NM_003482.4(KMT2D):c.7644del (p.Lys2548fs)	KMT2D (K2548fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2445621	NM_003482.4(KMT2D):c.8453G>A (p.Trp2818Ter)	KMT2D (W2818*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 2445213	NM_003482.4(KMT2D):c.1643del (p.Pro548fs)	KMT2D (P548fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2444349	NM_003482.4(KMT2D):c.6805_6811del (p.Ser2269fs)	KMT2D (S2269fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2442346	NM_003482.4(KMT2D):c.16084_16085del (p.Lys5362fs)	KMT2D (K5362fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2442342	NM_003482.4(KMT2D):c.14216_14217del (p.Pro4739fs)	KMT2D (P4739fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2442341	NM_003482.4(KMT2D):c.12395del (p.His4132fs)	KMT2D (H4132fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2442340	NM_003482.4(KMT2D):c.2007dup (p.Pro670fs)	KMT2D (P670fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2442339	NM_003482.4(KMT2D):c.4870del (p.Ala1624fs)	KMT2D (A1624fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2442338	NM_003482.4(KMT2D):c.14868del (p.Glu4957fs)	KMT2D (E4957fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2442337	NM_003482.4(KMT2D):c.15194G>C (p.Trp5065Ser)	KMT2D (W5065S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GPathogenic
Select item 2442334	NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter)	KMT2D (Q117*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2442332	NM_003482.4(KMT2D):c.13999_13999+12del	KMT2D	Deletion (splice donor variant)	Kabuki syndrome 1	GPathogenic

<< First< Prev

Page of 9