Related gene-specific medical variations for Gene (Select 58508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365167	NM_170606.3(KMT2C):c.11537C>G (p.Thr3846Ser)	KMT2C, LOC129999675 (T3846S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362170	NM_170606.3(KMT2C):c.14612G>A (p.Ser4871Asn)	KMT2C (S4871N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362057	NM_170606.3(KMT2C):c.5499G>C (p.Gln1833His)	KMT2C (Q1833H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362030	NM_170606.3(KMT2C):c.3611T>G (p.Leu1204Trp)	KMT2C (L1204W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361628	NM_170606.3(KMT2C):c.4303T>C (p.Ser1435Pro)	KMT2C (S1435P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361591	NM_170606.3(KMT2C):c.8445dup (p.Ser2816fs)	KMT2C (S2816fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3361498	NM_170606.3(KMT2C):c.14657A>G (p.Tyr4886Cys)	KMT2C (Y4886C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361457	NM_170606.3(KMT2C):c.10265A>G (p.Gln3422Arg)	KMT2C (Q3422R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360769	NM_170606.3(KMT2C):c.4610C>T (p.Pro1537Leu)	KMT2C (P1537L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360646	NM_170606.3(KMT2C):c.2171A>C (p.Lys724Thr)	KMT2C (K724T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360248	NM_170606.3(KMT2C):c.3689A>T (p.Asp1230Val)	KMT2C (D1230V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360118	NM_170606.3(KMT2C):c.3805_3806delinsCA (p.Gly1269His)	KMT2C (G1269H)	Indel (missense variant)	not provided	GUncertain significance
Select item 3359503	NM_170606.3(KMT2C):c.3726G>A (p.Met1242Ile)	KMT2C (M1242I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3258104	NM_170606.3(KMT2C):c.11671-1G>A	KMT2C	Single nucleotide variant (splice acceptor variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3245942	NC_000007.13:g.(?_151833917)_(151902330_?)dup	KMT2C	Duplication	not provided	GLikely benign
Select item 3245941	NC_000007.13:g.(?_151833917)_(151919171_?)dup	KMT2C	Duplication	not provided	GLikely benign
Select item 3245937	NC_000007.13:g.(?_151859182)_(152132871_?)dup	KMT2C	Duplication	not provided	GUncertain significance
Select item 3238831	NM_170606.3(KMT2C):c.6875del (p.Pro2292fs)	KMT2C (P2292fs)	Deletion (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 3236550	GRCh37/hg19 7q36.1(chr7:151890985-151994781)x1	KMT2C	Copy number loss	KMT2C-related NDD	GPathogenic
Select item 3236549	GRCh37/hg19 7q36.1(chr7:151992170-152048087)x1	KMT2C	Copy number loss	KMT2C-related NDD	GLikely pathogenic
Select item 3236548	GRCh37/hg19 7q36.1(chr7:151873591-152055129)x3	KMT2C	Copy number gain	KMT2C-related NDD	GLikely pathogenic
Select item 3236547	GRCh37/hg19 7q36.1(chr7:151917086-151979085)x1	KMT2C	Copy number loss	KMT2C-related NDD	GPathogenic
Select item 3236545	GRCh37/hg19 7q36.1(chr7:151876918-151879680)x1	KMT2C	Copy number loss	KMT2C-related NDD	GLikely pathogenic
Select item 3236544	GRCh37/hg19 7q36.1(chr7:151865502-152071048)x1	KMT2C	Copy number loss	KMT2C-related NDD	GLikely pathogenic
Select item 3236543	GRCh37/hg19 7q36.1(chr7:151868413-152030864)x1	KMT2C	Copy number loss	KMT2C-related NDD	GLikely pathogenic
Select item 3236542	GRCh37/hg19 7q36.1(chr7:151839151-152286751)x3	KMT2C	Copy number gain	KMT2C-related NDD	GBenign
Select item 3236541	GRCh37/hg19 7q36.1(chr7:151858920-152062163)x1	KMT2C	Copy number loss	KMT2C-related NDD	GPathogenic
Select item 3236487	NM_170606.3(KMT2C):c.11566_11567del (p.Arg3856fs)	KMT2C, LOC129999675 (R3856fs)	Microsatellite (frameshift variant)	KMT2C-related NDD	GLikely pathogenic
Select item 3233336	NM_170606.3(KMT2C):c.1256A>G (p.Gln419Arg)	KMT2C (Q419R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3068279	NM_170606.3(KMT2C):c.5150A>C (p.Lys1717Thr)	KMT2C (K1717T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3065944	NM_170606.3(KMT2C):c.11899A>G (p.Lys3967Glu)	KMT2C (K3967E)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3062068	NM_170606.3(KMT2C):c.6361_6362insATACTTTTTCCCAGTTGG (p.Thr2121delinsAsnThrPheSerGlnLeuAla)	KMT2C	Insertion (inframe_indel)	Kleefstra syndrome 2	GUncertain significance
Select item 2998467	NM_170606.3(KMT2C):c.11534A>G (p.Glu3845Gly)	KMT2C, LOC129999675 (E3845G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2842324	NM_170606.3(KMT2C):c.11541G>C (p.Lys3847Asn)	KMT2C, LOC129999675 (K3847N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689329	NM_170606.3(KMT2C):c.6511G>A (p.Val2171Ile)	KMT2C (V2171I)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2665086	NM_170606.3(KMT2C):c.14329C>T (p.Arg4777Trp)	KMT2C (R4777W)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2664056	NM_170606.3(KMT2C):c.1361T>A (p.Leu454Gln)	KMT2C (L454Q)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2658242	NM_170606.3(KMT2C):c.1029C>T (p.Asn343=)	KMT2C, LOC123956272	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658241	NM_170606.3(KMT2C):c.1131A>C (p.Pro377=)	KMT2C, LOC123956272	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627776	NM_170606.3(KMT2C):c.7067C>G (p.Pro2356Arg)	KMT2C (P2356R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2627048	NM_170606.3(KMT2C):c.9262+1G>A	KMT2C	Single nucleotide variant (splice donor variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 2582615	NM_170606.3(KMT2C):c.10300dup (p.His3434fs)	KMT2C (H3434fs)	Duplication (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 2582522	NM_170606.3(KMT2C):c.13364G>A (p.Arg4455Lys)	KMT2C (R4455K)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2581834	NM_170606.3(KMT2C):c.1063G>A (p.Asp355Asn)	KMT2C, LOC123956272 (D355N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579038	NM_170606.3(KMT2C):c.1050G>A (p.Pro350=)	KMT2C, LOC123956272	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576079	NM_170606.3(KMT2C):c.13597C>T (p.Arg4533Ter)	KMT2C (R4533*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2570612	NM_170606.3(KMT2C):c.430T>C (p.Ser144Pro)	KMT2C (S144P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502892	NM_170606.3(KMT2C):c.10636C>G (p.Gln3546Glu)	KMT2C (Q3546E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442035	NM_170606.3(KMT2C):c.8284C>G (p.Pro2762Ala)	KMT2C (P2762A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2441910	NM_170606.3(KMT2C):c.303C>G (p.Ser101Arg)	KMT2C (S101R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2441894	NM_170606.3(KMT2C):c.2776A>C (p.Thr926Pro)	KMT2C (T926P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2441011	NM_170606.3(KMT2C):c.2483del (p.Pro828fs)	KMT2C (P828fs)	Deletion (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 2433223	NM_170606.3(KMT2C):c.14343+3G>A	KMT2C	Single nucleotide variant (intron variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433222	NM_170606.3(KMT2C):c.530G>A (p.Ser177Asn)	KMT2C (S177N)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433220	NM_170606.3(KMT2C):c.14320T>C (p.Tyr4774His)	KMT2C (Y4774H)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433219	NM_170606.3(KMT2C):c.8298G>A (p.Met2766Ile)	KMT2C (M2766I)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433218	NM_170606.3(KMT2C):c.5171G>A (p.Ser1724Asn)	KMT2C (S1724N)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433217	NM_170606.3(KMT2C):c.8792A>T (p.Asp2931Val)	KMT2C (D2931V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433216	NM_170606.3(KMT2C):c.5336A>C (p.Glu1779Ala)	KMT2C (E1779A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433215	NM_170606.3(KMT2C):c.2291C>T (p.Ser764Phe)	KMT2C (S764F)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433214	NM_170606.3(KMT2C):c.11125A>G (p.Met3709Val)	KMT2C (M3709V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433213	NM_170606.3(KMT2C):c.5584A>C (p.Ile1862Leu)	KMT2C (I1862L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433211	NM_170606.3(KMT2C):c.11984G>A (p.Arg3995Gln)	KMT2C (R3995Q)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433209	NM_170606.3(KMT2C):c.9259A>G (p.Ile3087Val)	KMT2C (I3087V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433208	NM_170606.3(KMT2C):c.7631A>G (p.Gln2544Arg)	KMT2C (Q2544R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433207	NM_170606.3(KMT2C):c.8218A>G (p.Thr2740Ala)	KMT2C (T2740A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433206	NM_170606.3(KMT2C):c.6278C>T (p.Pro2093Leu)	KMT2C (P2093L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433205	NM_170606.3(KMT2C):c.8029A>G (p.Ile2677Val)	KMT2C (I2677V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433204	NM_170606.3(KMT2C):c.8591A>T (p.Asp2864Val)	KMT2C (D2864V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433203	NM_170606.3(KMT2C):c.10116T>G (p.Asn3372Lys)	KMT2C (N3372K)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433202	NM_170606.3(KMT2C):c.8963A>T (p.Gln2988Leu)	KMT2C (Q2988L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433201	NM_170606.3(KMT2C):c.9848G>C (p.Ser3283Thr)	KMT2C (S3283T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433200	NM_170606.3(KMT2C):c.10144C>T (p.Arg3382Trp)	KMT2C (R3382W)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433199	NM_170606.3(KMT2C):c.6431C>A (p.Ser2144Tyr)	KMT2C (S2144Y)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433195	NM_170606.3(KMT2C):c.8957G>A (p.Gly2986Asp)	KMT2C (G2986D)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433194	NM_170606.3(KMT2C):c.10877A>C (p.His3626Pro)	KMT2C (H3626P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433192	NM_170606.3(KMT2C):c.11405A>G (p.Asp3802Gly)	KMT2C (D3802G)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433191	NM_170606.3(KMT2C):c.5030A>G (p.Gln1677Arg)	KMT2C (Q1677R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433190	NM_170606.3(KMT2C):c.6887G>T (p.Arg2296Leu)	KMT2C (R2296L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433189	NM_170606.3(KMT2C):c.7786C>T (p.Arg2596Trp)	KMT2C (R2596W)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433188	NM_170606.3(KMT2C):c.11260T>C (p.Ser3754Pro)	KMT2C (S3754P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433187	NM_170606.3(KMT2C):c.8436A>G (p.Pro2812=)	KMT2C	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433186	NM_170606.3(KMT2C):c.5189G>T (p.Arg1730Leu)	KMT2C (R1730L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433185	NM_170606.3(KMT2C):c.11254C>T (p.Pro3752Ser)	KMT2C (P3752S)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433184	NM_170606.3(KMT2C):c.6439C>G (p.Gln2147Glu)	KMT2C (Q2147E)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2431706	NM_170606.3(KMT2C):c.1106T>C (p.Met369Thr)	KMT2C, LOC123956272 (M369T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2430048	NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)	KMT2C (G1446E)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430047	NM_170606.3(KMT2C):c.11670+1G>C	KMT2C	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely benign
Select item 2430045	NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)	KMT2C (Q2301P)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430044	NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)	KMT2C (R1906*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GPathogenic
Select item 2430043	NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)	KMT2C (A4903S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2272390	NM_170606.3(KMT2C):c.11569A>T (p.Thr3857Ser)	KMT2C, LOC129999675 (T3857S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992339	NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)	KMT2C (S4669fs)	Microsatellite (frameshift variant)	Kleefstra syndrome 2	GPathogenic
Select item 1960076	NM_170606.3(KMT2C):c.7_8inv (p.Ser3Glu)	KMT2C, LOC129999681 (S3E)	Inversion (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1953789	NM_170606.3(KMT2C):c.11549G>A (p.Arg3850Gln)	KMT2C, LOC129999675 (R3850Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1710627	NM_170606.3(KMT2C):c.1097A>G (p.Tyr366Cys)	KMT2C, LOC123956272 (Y366C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701706	NM_170606.3(KMT2C):c.2074G>A (p.Val692Ile)	KMT2C (V692I)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1700153	NM_170606.3(KMT2C):c.11548C>T (p.Arg3850Ter)	KMT2C, LOC129999675 (R3850*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700103	NM_170606.3(KMT2C):c.6449del (p.Gly2150fs)	KMT2C (G2150fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1696682	NM_170606.3(KMT2C):c.8369T>C (p.Val2790Ala)	KMT2C (V2790A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance

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