KMT2D[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 308975	NM_003482.4(KMT2D):c.*1982del	KMT2D	Deletion (3 prime UTR variant)	Kabuki syndrome	GUncertain significance
Select item 308983	NM_003482.4(KMT2D):c.*1043del	KMT2D	Deletion (3 prime UTR variant)	Kabuki syndrome	GUncertain significance
Select item 2642931	NM_003482.4(KMT2D):c.*1041G>T	KMT2D	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 308992	NM_003482.4(KMT2D):c.*296del	KMT2D	Deletion (3 prime UTR variant)	Kabuki syndrome	GUncertain significance
Select item 197965	NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=)	KMT2D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1636668	NM_003482.4(KMT2D):c.16593T>C (p.Asn5531=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 521965	NM_003482.4(KMT2D):c.16589G>A (p.Trp5530Ter)	KMT2D (W5530*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2873158	NM_003482.4(KMT2D):c.16581T>C (p.Cys5527=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 1674692	NM_003482.4(KMT2D):c.16572C>T (p.Pro5524=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 1597387	NM_003482.4(KMT2D):c.16566G>A (p.Lys5522=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2139909	NM_003482.4(KMT2D):c.16554C>T (p.Asp5518=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 1502946	NM_003482.4(KMT2D):c.16553A>G (p.Asp5518Gly)	KMT2D (D5518G)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2705429	NM_003482.4(KMT2D):c.16531G>C (p.Asp5511His)	KMT2D (D5511H)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 1701876	NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys)	KMT2D (Y5510C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1968810	NM_003482.4(KMT2D):c.16527C>T (p.Thr5509=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 379611	NM_003482.4(KMT2D):c.16522-1G>A	KMT2D	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2088162	NM_003482.4(KMT2D):c.16522-2A>G	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome	GPathogenic
Select item 1301886	NM_003482.4(KMT2D):c.16522-5_16522-2del	KMT2D	Deletion (splice acceptor variant)	Kabuki syndrome 1	GPathogenic
Select item 2027802	NM_003482.4(KMT2D):c.16522-4T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 288966	NM_003482.4(KMT2D):c.16522-4T>G	KMT2D	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2063513	NM_003482.4(KMT2D):c.16522-10C>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2066053	NM_003482.4(KMT2D):c.16522-11del	KMT2D	Deletion (intron variant)	Kabuki syndrome	GLikely benign
Select item 2907202	NM_003482.4(KMT2D):c.16522-12T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2830637	NM_003482.4(KMT2D):c.16522-16C>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 1204349	NM_003482.4(KMT2D):c.16522-63C>T	KMT2D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183347	NM_003482.4(KMT2D):c.16521+11G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2129633	NM_003482.4(KMT2D):c.16521+8dup	KMT2D	Duplication (intron variant)	Kabuki syndrome	GLikely benign
Select item 767314	NM_003482.4(KMT2D):c.16521+7G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome +1 more	GLikely benign
Select item 1300021	NM_003482.4(KMT2D):c.16521+1G>T	KMT2D	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1303994	NM_003482.4(KMT2D):c.16521G>C (p.Glu5507Asp)	KMT2D (E5507D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2034677	NM_003482.4(KMT2D):c.16515A>T (p.Gly5505=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GPathogenic
Select item 3051113	NM_003482.4(KMT2D):c.16509C>T (p.Pro5503=)	KMT2D	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 1625385	NM_003482.4(KMT2D):c.16506C>T (p.Ile5502=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3364710	NM_003482.4(KMT2D):c.16502G>A (p.Arg5501Gln)	KMT2D (R5501Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280126	NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	KMT2D (R5501*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2429392	NM_003482.4(KMT2D):c.16500del (p.Arg5501fs)	KMT2D (R5501fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2776236	NM_003482.4(KMT2D):c.16499G>A (p.Arg5500Gln)	KMT2D (R5500Q)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 449044	NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp)	KMT2D (R5500W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 3365175	NM_003482.4(KMT2D):c.16493C>G (p.Ser5498Cys)	KMT2D (S5498C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158745	NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)	KMT2D (I5497del)	Microsatellite (inframe_deletion)	Kabuki syndrome 1	GConflicting classifications of pathogenicity
Select item 167217	NM_003482.4(KMT2D):c.16487T>G (p.Ile5496Ser)	KMT2D (I5496S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280263	NM_003482.4(KMT2D):c.16469_16472del (p.Lys5490fs)	KMT2D (K5490fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1172600	NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs)	KMT2D (K5490fs)	Deletion (frameshift variant)	Kabuki syndrome 1 +1 more	GPathogenic
Select item 547511	NM_003482.4(KMT2D):c.16470del (p.Glu5491fs)	KMT2D (E5491fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1719123	NM_003482.4(KMT2D):c.16467C>G (p.Asp5489Glu)	KMT2D (D5489E)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 1308601	NM_003482.4(KMT2D):c.16464T>A (p.Phe5488Leu)	KMT2D (F5488L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894958	NM_003482.4(KMT2D):c.16461A>G (p.Thr5487=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 3252929	NM_003482.4(KMT2D):c.16456G>A (p.Val5486Met)	KMT2D (V5486M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723772	NM_003482.4(KMT2D):c.16449C>T (p.Ala5483=)	KMT2D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 836929	NM_003482.4(KMT2D):c.16445_16446del (p.Val5482fs)	KMT2D (V5482fs)	Microsatellite (frameshift variant)	Kabuki syndrome	GPathogenic
Select item 2429860	NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu)	KMT2D (V5482E)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 986938	NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr)	KMT2D (C5481Y)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GPathogenic/Likely pathogenic
Select item 158744	NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs)	KMT2D	Deletion (frameshift variant)	Kabuki syndrome +2 more	GPathogenic
Select item 2175992	NM_003482.4(KMT2D):c.16440C>T (p.Asn5480=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 547510	NM_003482.4(KMT2D):c.16437del (p.Asn5480fs)	KMT2D (N5480fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2902397	NM_003482.4(KMT2D):c.16434C>T (p.Ala5478=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 3008460	NM_003482.4(KMT2D):c.16417A>G (p.Ile5473Val)	KMT2D (I5473V)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 158743	NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)	KMT2D (R5471S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 183375	NM_003482.4(KMT2D):c.16413-1G>C	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2808515	NM_003482.4(KMT2D):c.16413-5C>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2413331	NM_003482.4(KMT2D):c.16413-11C>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 1302875	NM_003482.4(KMT2D):c.16412+32G>A	KMT2D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1685362	NM_003482.4(KMT2D):c.16412+2_16412+16del	KMT2D	Deletion (splice donor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 94193	NM_003482.4(KMT2D):c.16412+16del	KMT2D	Deletion (intron variant)	Kabuki syndrome 1 +3 more	GBenign
Select item 158742	NM_003482.4(KMT2D):c.16412+13G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1555097	NM_003482.4(KMT2D):c.16412+12C>T	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 981675	NM_003482.4(KMT2D):c.16412+5G>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 197935	NM_003482.4(KMT2D):c.16412+1G>T	KMT2D	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 451166	NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys)	KMT2D (R5471K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 158741	NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)	KMT2D (R5471W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2140316	NM_003482.4(KMT2D):c.16401C>T (p.Gly5467=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2983961	NM_003482.4(KMT2D):c.16392G>A (p.Thr5464=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 1809767	NM_003482.4(KMT2D):c.16391_16392insAG (p.Leu5465fs)	KMT2D (L5465fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 7539	NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met)	KMT2D (T5464M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2017966	NM_003482.4(KMT2D):c.16380G>T (p.Val5460=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GLikely benign
Select item 2856000	NM_003482.4(KMT2D):c.16376A>G (p.His5459Arg)	KMT2D (H5459R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2828864	NM_003482.4(KMT2D):c.16368C>A (p.Asn5456Lys)	KMT2D (N5456K)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 2577923	NM_003482.4(KMT2D):c.16361del (p.Arg5454fs)	KMT2D (R5454fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 7538	NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)	KMT2D (R5454*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 3344771	NM_003482.4(KMT2D):c.16350C>T (p.Ile5450=)	KMT2D	Single nucleotide variant (synonymous variant)	KMT2D-related disorder	GLikely benign
Select item 531888	NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)	KMT2D (R5448*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1066512	NM_003482.4(KMT2D):c.16339-1G>C	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome	GLikely pathogenic
Select item 2133166	NM_003482.4(KMT2D):c.16339-2A>C	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome	GLikely pathogenic
Select item 1616355	NM_003482.4(KMT2D):c.16339-13T>C	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2162943	NM_003482.4(KMT2D):c.16339-22_16339-20del	KMT2D	Microsatellite (intron variant)	Kabuki syndrome	GBenign
Select item 2124420	NM_003482.4(KMT2D):c.16338+15A>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 3018476	NM_003482.4(KMT2D):c.16338+8C>G	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 1395489	NM_003482.4(KMT2D):c.16338+5G>A	KMT2D	Single nucleotide variant (intron variant)	Kabuki syndrome	GLikely benign
Select item 2711153	NM_003482.4(KMT2D):c.16338+2dup	KMT2D	Duplication (splice donor variant)	Kabuki syndrome	GUncertain significance
Select item 531882	NM_003482.4(KMT2D):c.16338+2T>C	KMT2D	Single nucleotide variant (splice donor variant)	Kabuki syndrome	GLikely pathogenic
Select item 966206	NM_003482.4(KMT2D):c.16338+1G>A	KMT2D	Single nucleotide variant (splice donor variant)	Kabuki syndrome	GLikely pathogenic
Select item 547509	NM_003482.4(KMT2D):c.16338+1G>T	KMT2D	Single nucleotide variant (splice donor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 520704	NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs)	KMT2D (Q5446fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2150854	NM_003482.4(KMT2D):c.16329C>T (p.Tyr5443=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 94192	NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)	KMT2D (A5436fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2433230	NM_003482.4(KMT2D):c.16321A>G (p.Lys5441Glu)	KMT2D (K5441E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2197330	NM_003482.4(KMT2D):c.16314G>A (p.Arg5438=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome	GBenign
Select item 2636226	NM_003482.4(KMT2D):c.16312C>T (p.Arg5438Trp)	KMT2D (R5438W)	Single nucleotide variant (missense variant)	KMT2D-related disorder	GUncertain significance
Select item 1307532	NM_003482.4(KMT2D):c.16310A>G (p.Asn5437Ser)	KMT2D (N5437S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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