"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KMT2C"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872355	NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr)	KMT2C (F4890Y)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GUncertain significance
Select item 2193125	NM_170606.3(KMT2C):c.14644-8G>A	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639812	NM_170606.3(KMT2C):c.14550G>A (p.Ser4850=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633117	NM_170606.3(KMT2C):c.14463C>T (p.Asn4821=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914093	NM_170606.3(KMT2C):c.14403C>A (p.Ile4801=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025936	NM_170606.3(KMT2C):c.14025G>A (p.Ala4675=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168383	NM_170606.3(KMT2C):c.14022A>T (p.Ile4674=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1662905	NM_170606.3(KMT2C):c.13931T>G (p.Val4644Gly)	KMT2C (V4644G)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 2062154	NM_170606.3(KMT2C):c.13884C>G (p.Ile4628Met)	KMT2C (I4628M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176250	NM_170606.3(KMT2C):c.13789C>T (p.Arg4597Cys)	KMT2C (R4597C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1545096	NM_170606.3(KMT2C):c.13758C>T (p.Tyr4586=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658193	NM_170606.3(KMT2C):c.13614C>T (p.Ile4538=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658194	NM_170606.3(KMT2C):c.13603A>G (p.Ile4535Val)	KMT2C (I4535V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234673	NM_170606.3(KMT2C):c.13443C>G (p.Asn4481Lys)	KMT2C (N4481K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072264	NM_170606.3(KMT2C):c.13023G>T (p.Gly4341=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572249	NM_170606.3(KMT2C):c.13023G>A (p.Gly4341=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3025885	NM_170606.3(KMT2C):c.13000C>T (p.Arg4334Trp)	KMT2C (R4334W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026824	NM_170606.3(KMT2C):c.12932C>T (p.Pro4311Leu)	KMT2C (P4311L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025578	NM_170606.3(KMT2C):c.12815C>T (p.Thr4272Met)	KMT2C (T4272M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658195	NM_170606.3(KMT2C):c.12795A>G (p.Pro4265=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335698	NM_170606.3(KMT2C):c.12720T>C (p.Asn4240=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134811	NM_170606.3(KMT2C):c.12655C>G (p.Leu4219Val)	KMT2C (L4219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1646971	NM_170606.3(KMT2C):c.12570C>T (p.Ser4190=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1951866	NM_170606.3(KMT2C):c.12566A>G (p.Glu4189Gly)	KMT2C (E4189G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658196	NM_170606.3(KMT2C):c.12558T>C (p.Gly4186=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569460	NM_170606.3(KMT2C):c.12557G>A (p.Gly4186Asp)	KMT2C (G4186D)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 1668856	NM_170606.3(KMT2C):c.12552T>C (p.Ser4184=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 2658197	NM_170606.3(KMT2C):c.12444G>A (p.Pro4148=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 1663207	NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=)	KMT2C	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 810219	NM_170606.3(KMT2C):c.12335G>T (p.Ser4112Ile)	KMT2C (S4112I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679901	NM_170606.3(KMT2C):c.12239T>C (p.Ile4080Thr)	KMT2C (I4080T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2658198	NM_170606.3(KMT2C):c.12227G>C (p.Arg4076Thr)	KMT2C (R4076T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499062	NM_170606.3(KMT2C):c.12226A>G (p.Arg4076Gly)	KMT2C (R4076G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596808	NM_170606.3(KMT2C):c.12174G>A (p.Glu4058=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2056096	NM_170606.3(KMT2C):c.12093G>A (p.Pro4031=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 771420	NM_170606.3(KMT2C):c.11865C>T (p.Asp3955=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658199	NM_170606.3(KMT2C):c.11790C>T (p.Ala3930=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538109	NM_170606.3(KMT2C):c.11768C>T (p.Thr3923Ile)	KMT2C (T3923I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3027110	NM_170606.3(KMT2C):c.11694A>G (p.Pro3898=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3067228	NM_170606.3(KMT2C):c.11670+1027G>A	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579035	NM_170606.3(KMT2C):c.11591G>C (p.Arg3864Pro)	KMT2C (R3864P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658200	NM_170606.3(KMT2C):c.11486G>A (p.Gly3829Asp)	KMT2C (G3829D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658201	NM_170606.3(KMT2C):c.11442G>T (p.Gln3814His)	KMT2C (Q3814H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695215	NM_170606.3(KMT2C):c.11343G>A (p.Leu3781=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696027	NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr)	KMT2C (A3723T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 134799	NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro)	KMT2C (A3723P)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 719178	NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=)	KMT2C	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign
Select item 2658202	NM_170606.3(KMT2C):c.11124C>T (p.Ser3708=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176251	NM_170606.3(KMT2C):c.11030G>T (p.Cys3677Phe)	KMT2C (C3677F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348979	NM_170606.3(KMT2C):c.10992C>T (p.Val3664=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736447	NM_170606.3(KMT2C):c.10992C>A (p.Val3664=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176252	NM_170606.3(KMT2C):c.10957C>T (p.Pro3653Ser)	KMT2C (P3653S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1285403	NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu)	KMT2C (P3644L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 770568	NM_170606.3(KMT2C):c.10911C>T (p.Ile3637=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 134789	NM_170606.3(KMT2C):c.10763C>T (p.Ser3588Leu)	KMT2C (S3588L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134802	NM_170606.3(KMT2C):c.10639T>C (p.Ser3547Pro)	KMT2C (S3547P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1676091	NM_170606.3(KMT2C):c.10591T>G (p.Ser3531Ala)	KMT2C (S3531A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067704	NM_170606.3(KMT2C):c.10467A>G (p.Gln3489=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134788	NM_170606.3(KMT2C):c.10432C>G (p.Gln3478Glu)	KMT2C (Q3478E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1630730	NM_170606.3(KMT2C):c.10299G>A (p.Gln3433=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 373198	NM_170606.3(KMT2C):c.10216G>A (p.Glu3406Lys)	KMT2C (E3406K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2658203	NM_170606.3(KMT2C):c.10061C>T (p.Pro3354Leu)	KMT2C (P3354L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174429	NM_170606.3(KMT2C):c.10040A>G (p.Asn3347Ser)	KMT2C (N3347S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2658204	NM_170606.3(KMT2C):c.9976C>A (p.Pro3326Thr)	KMT2C (P3326T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 134794	NM_170606.3(KMT2C):c.9931C>T (p.Leu3311Phe)	KMT2C (L3311F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 810220	NM_170606.3(KMT2C):c.9670C>T (p.Arg3224Cys)	KMT2C (R3224C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620963	NM_170606.3(KMT2C):c.9564A>G (p.Gln3188=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3026629	NM_170606.3(KMT2C):c.9426G>T (p.Gln3142His)	KMT2C (Q3142H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134778	NM_170606.3(KMT2C):c.9245C>T (p.Pro3082Leu)	KMT2C (P3082L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1130815	NM_170606.3(KMT2C):c.9159A>T (p.Leu3053=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568753	NM_170606.3(KMT2C):c.9138T>A (p.Leu3046=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 2658205	NM_170606.3(KMT2C):c.9087A>G (p.Gln3029=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719972	NM_170606.3(KMT2C):c.8943T>C (p.His2981=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1560676	NM_170606.3(KMT2C):c.8880G>A (p.Pro2960=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 2658206	NM_170606.3(KMT2C):c.8879C>T (p.Pro2960Leu)	KMT2C (P2960L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2579036	NM_170606.3(KMT2C):c.8752C>A (p.Leu2918Ile)	KMT2C (L2918I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673133	NM_170606.3(KMT2C):c.8697A>G (p.Gln2899=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134772	NM_170606.3(KMT2C):c.8488A>C (p.Asn2830His)	KMT2C (N2830H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1532177	NM_170606.3(KMT2C):c.8457C>T (p.Thr2819=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658207	NM_170606.3(KMT2C):c.8341A>G (p.Ile2781Val)	KMT2C (I2781V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1711665	NM_170606.3(KMT2C):c.8181C>T (p.Gly2727=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067302	NM_170606.3(KMT2C):c.8076T>A (p.Asp2692Glu)	KMT2C (D2692E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 134776	NM_170606.3(KMT2C):c.7957C>G (p.Leu2653Val)	KMT2C (L2653V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1614963	NM_170606.3(KMT2C):c.7881A>G (p.Gln2627=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2658208	NM_170606.3(KMT2C):c.7743T>G (p.Val2581=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673134	NM_170606.3(KMT2C):c.7588C>G (p.Gln2530Glu)	KMT2C (Q2530E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769337	NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign
Select item 2492313	NM_170606.3(KMT2C):c.7472C>T (p.Thr2491Ile)	KMT2C (T2491I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1669978	NM_170606.3(KMT2C):c.7443-2dup	KMT2C	Duplication (splice acceptor variant)	not provided	GBenign
Select item 2658210	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTTTTA	KMT2C	Insertion (intron variant)	not provided	GLikely benign
Select item 2658209	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTA	KMT2C	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 2583054	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTTA	KMT2C	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 2081267	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTA	KMT2C	Insertion (intron variant)	not provided	GLikely benign
Select item 2051942	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTA	KMT2C	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 1650891	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTA	KMT2C	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 1635084	NM_170606.3(KMT2C):c.7443-5A>T	KMT2C	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1576013	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTA	KMT2C	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 1570440	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTA	KMT2C	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 2413995	NM_170606.3(KMT2C):c.7397A>G (p.Tyr2466Cys)	KMT2C (Y2466C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1701540	NM_170606.3(KMT2C):c.7233A>G (p.Ser2411=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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