ClinVar for MedGen (Select 934600) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377552	NM_014727.3(KMT2B):c.7225C>T (p.Arg2409Trp)	KMT2B (R2409W)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 3367163	NM_014727.3(KMT2B):c.2061_2062del (p.Pro688fs)	KMT2B (P688fs)	Microsatellite (frameshift variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 3362380	NM_014727.3(KMT2B):c.6960-8C>T	KMT2B	Single nucleotide variant (intron variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 3066001	NM_014727.3(KMT2B):c.610C>T (p.Gln204Ter)	KMT2B (Q204*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GPathogenic
Select item 2672098	NM_014727.3(KMT2B):c.7187C>T (p.Pro2396Leu)	KMT2B (P2396L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68 +1 more	GUncertain significance
Select item 2584428	NM_014727.3(KMT2B):c.5002C>T (p.Arg1668Trp)	KMT2B (R1668W)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 2577441	NM_014727.3(KMT2B):c.5060dup (p.Asp1687fs)	KMT2B (D1687fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 2500189	NM_014727.3(KMT2B):c.5179G>T (p.Ala1727Ser)	KMT2B (A1727S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 2484655	NM_014727.3(KMT2B):c.977G>A (p.Gly326Asp)	KMT2B (G326D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2444329	NM_014727.3(KMT2B):c.4765del (p.Asp1589fs)	KMT2B (D1589fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 2203441	NM_014727.3(KMT2B):c.2005C>T (p.Pro669Ser)	KMT2B (P669S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 2193260	NM_014727.3(KMT2B):c.3769C>T (p.Arg1257Cys)	KMT2B (R1257C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1947457	NM_014727.3(KMT2B):c.5561C>T (p.Pro1854Leu)	KMT2B (P1854L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1941137	NM_014727.3(KMT2B):c.4043A>G (p.Asn1348Ser)	KMT2B (N1348S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 1806273	NM_014727.3(KMT2B):c.3370C>T (p.Pro1124Ser)	KMT2B (P1124S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1806094	NM_014727.3(KMT2B):c.1102A>C (p.Lys368Gln)	KMT2B (K368Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1803995	NM_014727.3(KMT2B):c.7693C>G (p.Arg2565Gly)	KMT2B (R2565G)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GLikely pathogenic
Select item 1803994	NM_014727.3(KMT2B):c.7012del (p.Asp2338fs)	KMT2B (D2338fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 1803993	NM_014727.3(KMT2B):c.1603C>T (p.Arg535Cys)	KMT2B (R535C)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1710262	NM_014727.3(KMT2B):c.3917G>T (p.Cys1306Phe)	KMT2B (C1306F)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1709896	NM_014727.3(KMT2B):c.2017G>T (p.Ala673Ser)	KMT2B (A673S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1709593	NM_014727.3(KMT2B):c.4307G>A (p.Gly1436Glu)	KMT2B (G1436E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708481	NM_014727.3(KMT2B):c.5741_5748dup (p.Ser1917fs)	KMT2B (S1917fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 1700217	NM_014727.3(KMT2B):c.7921G>A (p.Ala2641Thr)	KMT2B (A2641T)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GLikely pathogenic
Select item 1698412	NM_014727.3(KMT2B):c.2702G>A (p.Arg901Gln)	KMT2B (R901Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1698411	NM_014727.3(KMT2B):c.2422CAG[6] (p.Gln812_Lys813insGln)	KMT2B	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1696764	NM_014727.3(KMT2B):c.3190C>A (p.Pro1064Thr)	KMT2B (P1064T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1696510	NM_014727.3(KMT2B):c.1115A>G (p.Glu372Gly)	KMT2B (E372G)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1687549	NM_014727.3(KMT2B):c.5230_5233del (p.Ser1744fs)	KMT2B (S1744fs)	Microsatellite (frameshift variant)	Dystonia 28, childhood-onset +1 more	GPathogenic
Select item 1685914	NM_014727.3(KMT2B):c.683del (p.Ala228fs)	KMT2B (A228fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 1679290	NM_014727.3(KMT2B):c.7470C>A (p.Phe2490Leu)	KMT2B (F2490L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1679119	NM_014727.3(KMT2B):c.7693C>T (p.Arg2565Cys)	KMT2B (R2565C)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1525972	NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=)	KMT2B	Single nucleotide variant (synonymous variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 1509424	NM_014727.3(KMT2B):c.6170G>A (p.Arg2057His)	KMT2B (R2057H)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 1342533	NM_014727.3(KMT2B):c.5621G>A (p.Arg1874Gln)	KMT2B (R1874Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 1341931	NM_014727.3(KMT2B):c.5462C>G (p.Pro1821Arg)	KMT2B (P1821R)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1341826	NM_014727.3(KMT2B):c.3206C>G (p.Ser1069Cys)	KMT2B (S1069C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333975	NM_014727.3(KMT2B):c.3014G>A (p.Cys1005Tyr)	KMT2B (C1005Y)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1320082	NM_014727.3(KMT2B):c.7984C>T (p.Arg2662Trp)	KMT2B (R2662W)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1297015	NM_014727.3(KMT2B):c.6413dup (p.Ala2139fs)	KMT2B (A2139fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset +1 more	GPathogenic
Select item 1288329	NM_014727.3(KMT2B):c.7743-9G>T	KMT2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275693	NM_014727.3(KMT2B):c.1847G>A (p.Arg616Gln)	KMT2B (R616Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GBenign/Likely benign
Select item 1262833	NM_014727.3(KMT2B):c.7091A>G (p.Asp2364Gly)	KMT2B (D2364G)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GBenign
Select item 1247800	NM_014727.3(KMT2B):c.5076+25G>A	KMT2B	Single nucleotide variant (intron variant)	Dystonia 28, childhood-onset +1 more	GBenign
Select item 1240835	NM_014727.3(KMT2B):c.2572-9C>T	KMT2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230475	NM_014727.3(KMT2B):c.4257C>T (p.Gly1419=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1228147	NM_014727.3(KMT2B):c.1126_1128del (p.Lys376del)	KMT2B (K376del)	Deletion (inframe_deletion)	not provided +1 more	GBenign
Select item 1226023	NM_014727.3(KMT2B):c.1108GAA[3] (p.Glu373del)	KMT2B (E373del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 1213723	NM_014727.3(KMT2B):c.4460G>A (p.Arg1487His)	KMT2B (R1487H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1213722	NM_014727.3(KMT2B):c.3856A>T (p.Thr1286Ser)	KMT2B (T1286S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1184467	NM_014727.3(KMT2B):c.7348C>T (p.Arg2450Ter)	KMT2B (R2450*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1172540	NM_014727.3(KMT2B):c.7614del (p.Thr2539fs)	KMT2B (T2539fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 1067862	NM_014727.3(KMT2B):c.4844C>T (p.Ser1615Leu)	KMT2B (S1615L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1065339	NM_014727.3(KMT2B):c.4109_4110dup (p.Leu1371fs)	KMT2B (L1371fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1031844	NM_014727.3(KMT2B):c.5006C>T (p.Ala1669Val)	KMT2B (A1669V)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031843	NM_014727.3(KMT2B):c.4762G>A (p.Gly1588Arg)	KMT2B (G1588R)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031295	NM_014727.3(KMT2B):c.6919T>C (p.Ser2307Pro)	KMT2B (S2307P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GUncertain significance
Select item 1031294	NM_014727.3(KMT2B):c.5974G>T (p.Asp1992Tyr)	KMT2B (D1992Y)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031293	NM_014727.3(KMT2B):c.278G>C (p.Arg93Pro)	KMT2B (R93P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031292	NM_014727.3(KMT2B):c.2003C>T (p.Pro668Leu)	KMT2B (P668L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 1031291	NM_014727.3(KMT2B):c.145C>A (p.Arg49Ser)	KMT2B, LOC130064258 (R49S)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 988727	NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)	KMT2B (M1202fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 982755	NM_014727.3(KMT2B):c.4154C>T (p.Ser1385Leu)	KMT2B (S1385L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GUncertain significance
Select item 976707	NM_014727.3(KMT2B):c.3335-9_3363del	KMT2B	Deletion (splice acceptor variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 975260	NM_014727.2(KMT2B):c.3059dup	KMT2B	Duplication	not provided +1 more	GBenign
Select item 974897	NM_014727.3(KMT2B):c.1205del (p.Pro402fs)	KMT2B (P402fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 932009	NM_014727.3(KMT2B):c.3429+9G>A	KMT2B	Single nucleotide variant (intron variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 930711	NM_014727.3(KMT2B):c.3953G>T (p.Trp1318Leu)	KMT2B (W1318L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GUncertain significance
Select item 871235	NM_014727.3(KMT2B):c.1760C>G (p.Pro587Arg)	KMT2B (P587R)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 871234	NM_014727.3(KMT2B):c.1028G>A (p.Arg343Lys)	KMT2B (R343K)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 870575	NM_014727.3(KMT2B):c.118del (p.Ala40fs)	KMT2B (A40fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 817932	NM_014727.3(KMT2B):c.648_649insA (p.Arg217fs)	KMT2B (R217fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 817423	NM_014727.3(KMT2B):c.15_24dup (p.Ser9fs)	KMT2B (S9fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 68 +2 more	GPathogenic
Select item 807439	NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val)	KMT2B (A1616V)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 807438	NM_014727.3(KMT2B):c.4549C>T (p.Arg1517Ter)	KMT2B (R1517*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GPathogenic
Select item 807437	NM_014727.3(KMT2B):c.3700G>A (p.Glu1234Lys)	KMT2B (E1234K)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 807436	NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu)	KMT2B (G1211E)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 807435	NM_014727.3(KMT2B):c.424C>T (p.Arg142Ter)	KMT2B (R142*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset +1 more	GPathogenic
Select item 725996	NM_014727.3(KMT2B):c.6249G>A (p.Thr2083=)	KMT2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 710483	NM_014727.3(KMT2B):c.398C>T (p.Ala133Val)	KMT2B (A133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 692033	NM_014727.3(KMT2B):c.4960T>C (p.Cys1654Arg)	KMT2B (C1654R)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 623944	NM_014727.3(KMT2B):c.4766_4768del (p.Asp1589del)	KMT2B (D1589del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 623940	NM_014727.3(KMT2B):c.2462G>T (p.Ser821Ile)	KMT2B (S821I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 590881	NM_014727.3(KMT2B):c.5336G>A (p.Arg1779Gln)	KMT2B (R1779Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	Gnot provided
Select item 590880	NM_014727.3(KMT2B):c.4622C>T (p.Ala1541Val)	KMT2B (A1541V)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	Gnot provided
Select item 562212	NM_014727.3(KMT2B):c.5335C>T (p.Arg1779Ter)	KMT2B (R1779*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 549496	NM_014727.3(KMT2B):c.5342T>C (p.Leu1781Pro)	KMT2B (L1781P)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549493	NM_014727.3(KMT2B):c.4955G>A (p.Gly1652Asp)	KMT2B (G1652D)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549489	NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln)	KMT2B (R1705Q)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GConflicting classifications of pathogenicity
Select item 549485	NM_014727.3(KMT2B):c.8021T>C (p.Ile2674Thr)	KMT2B (I2674T)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549481	NM_014727.3(KMT2B):c.5284C>T (p.Arg1762Cys)	KMT2B (R1762C)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 549479	NM_014727.3(KMT2B):c.4986C>A (p.Phe1662Leu)	KMT2B (F1662L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 548572	NM_014727.3(KMT2B):c.1337C>T (p.Pro446Leu)	KMT2B (P446L)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 522861	NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe)	KMT2B (C1644F)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 488539	NM_014727.3(KMT2B):c.521dup (p.Thr176fs)	KMT2B (T176fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 450816	NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs)	KMT2B (S9fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 374877	NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp)	KMT2B (R2517W)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 374876	NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter)	KMT2B (Y1515*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 374875	NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)	KMT2B (R564*)	Single nucleotide variant (nonsense)	Dystonia 28, childhood-onset	GPathogenic/Likely pathogenic
Select item 374874	NM_014727.3(KMT2B):c.402dup (p.Ser135fs)	KMT2B (S135fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic

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