ClinVar for Gene (Select 4297) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3115973	NM_001197104.2(KMT2A):c.9935C>T (p.Thr3312Ile)	KMT2A (T3342I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115972	NM_001197104.2(KMT2A):c.8683G>C (p.Gly2895Arg)	KMT2A (G2895R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115971	NM_001197104.2(KMT2A):c.7267T>A (p.Ser2423Thr)	KMT2A (S2453T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115969	NM_001197104.2(KMT2A):c.7124T>G (p.Leu2375Trp)	KMT2A (L2375W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115968	NM_001197104.2(KMT2A):c.6913T>A (p.Ser2305Thr)	KMT2A (S2305T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115967	NM_001197104.2(KMT2A):c.6701G>A (p.Gly2234Glu)	KMT2A (G2264E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115966	NM_001197104.2(KMT2A):c.3962A>G (p.Lys1321Arg)	KMT2A (K1321R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115965	NM_001197104.2(KMT2A):c.3896_3908del (p.Ser1299fs)	KMT2A (S1299fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3115964	NM_001197104.2(KMT2A):c.3752A>T (p.Asp1251Val)	KMT2A (D1284V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115962	NM_001197104.2(KMT2A):c.256T>C (p.Ser86Pro)	KMT2A (S86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115961	NM_001197104.2(KMT2A):c.1486A>C (p.Ile496Leu)	KMT2A (I496L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115960	NM_001197104.2(KMT2A):c.10039G>A (p.Val3347Ile)	KMT2A (V3347I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3069183	NM_001197104.2(KMT2A):c.5824_5827del (p.Pro1942fs)	KMT2A (P1939fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3068952	NM_001197104.2(KMT2A):c.2699A>G (p.Gln900Arg)	KMT2A (Q900R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067681	NM_001197104.2(KMT2A):c.2950G>A (p.Glu984Lys)	KMT2A (E1017K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066327	NM_001197104.2(KMT2A):c.4763G>A (p.Cys1588Tyr)	KMT2A (C1588Y +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3065673	NM_001197104.2(KMT2A):c.9917_9918insCTGT (p.Gln3307fs)	KMT2A (Q3304fs +2 more)	Insertion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3063920	NM_001197104.2(KMT2A):c.1877G>A (p.Arg626Lys)	KMT2A (R626K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063779	NM_001197104.2(KMT2A):c.6446G>C (p.Arg2149Pro)	KMT2A (R2146P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062070	NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)	KMT2A (Q2203* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3062063	NM_001197104.2(KMT2A):c.11870del (p.Lys3957fs)	KMT2A, TTC36-AS1 (K3954fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3061213	NM_001197104.2(KMT2A):c.4857T>G (p.Ser1619Arg)	KMT2A (S1616R +2 more)	Single nucleotide variant (missense variant)	KMT2A-related condition	GUncertain significance
Select item 3061094	NM_001197104.2(KMT2A):c.6320-3C>T	KMT2A	Single nucleotide variant (intron variant)	KMT2A-related condition	GLikely benign
Select item 3060348	NM_001197104.2(KMT2A):c.1635A>C (p.Lys545Asn)	KMT2A (K545N +1 more)	Single nucleotide variant (missense variant)	KMT2A-related condition	GUncertain significance
Select item 3057652	NM_001197104.2(KMT2A):c.11147-11_11147-5dup	KMT2A, TTC36-AS1	Duplication (non-coding transcript variant +1 more)	KMT2A-related condition	GLikely benign
Select item 3050486	NM_001197104.2(KMT2A):c.9744T>G (p.Pro3248=)	KMT2A	Single nucleotide variant (synonymous variant)	KMT2A-related condition	GLikely benign
Select item 3050198	NM_001197104.2(KMT2A):c.7767C>T (p.Asn2589=)	KMT2A	Single nucleotide variant (synonymous variant)	KMT2A-related condition	GLikely benign
Select item 3040022	NM_001197104.2(KMT2A):c.8565T>C (p.Phe2855=)	KMT2A	Single nucleotide variant (synonymous variant)	KMT2A-related condition	GLikely benign
Select item 3032464	NM_001197104.2(KMT2A):c.10564C>T (p.Pro3522Ser)	KMT2A (P3519S +2 more)	Single nucleotide variant (missense variant)	KMT2A-related condition	GUncertain significance
Select item 3032443	NM_001197104.2(KMT2A):c.2904T>C (p.Asn968=)	KMT2A	Single nucleotide variant (synonymous variant)	KMT2A-related condition	GLikely benign
Select item 3031687	NM_001197104.2(KMT2A):c.1791G>C (p.Leu597Phe)	KMT2A (L597F +1 more)	Single nucleotide variant (missense variant)	KMT2A-related condition	GUncertain significance
Select item 3030971	NM_001197104.2(KMT2A):c.9554C>G (p.Ser3185Ter)	KMT2A (S3182* +2 more)	Single nucleotide variant (nonsense)	KMT2A-related condition	GLikely pathogenic
Select item 3030032	NM_001197104.2(KMT2A):c.10779G>A (p.Gln3593=)	KMT2A	Single nucleotide variant (synonymous variant)	KMT2A-related condition	GLikely benign
Select item 3029015	NM_001197104.2(KMT2A):c.5668G>T (p.Ala1890Ser)	KMT2A (A1887S +2 more)	Single nucleotide variant (missense variant)	KMT2A-related condition	GUncertain significance
Select item 3027321	NM_001197104.2(KMT2A):c.4352G>T (p.Cys1451Phe)	KMT2A (C1451F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026548	NM_001197104.2(KMT2A):c.10502A>C (p.Asn3501Thr)	KMT2A (N3498T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026054	NM_001197104.2(KMT2A):c.153C>G (p.Pro51=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024256	NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)	KMT2A (W1549* +1 more)	Duplication (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3023444	NM_001197104.2(KMT2A):c.9902C>T (p.Pro3301Leu)	KMT2A (P3301L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023348	NM_001197104.2(KMT2A):c.5450C>T (p.Thr1817Ile)	KMT2A (T1817I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022742	NM_001197104.2(KMT2A):c.10351G>A (p.Glu3451Lys)	KMT2A (E3448K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022254	NM_001197104.2(KMT2A):c.8149A>G (p.Ile2717Val)	KMT2A (I2717V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020347	NM_001197104.2(KMT2A):c.6638T>C (p.Met2213Thr)	KMT2A (M2210T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019844	NM_001197104.2(KMT2A):c.8460C>T (p.Asp2820=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015651	NM_001197104.2(KMT2A):c.3649_3654del (p.Glu1217_Lys1218del)	KMT2A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3015550	NM_001197104.2(KMT2A):c.1625C>T (p.Thr542Met)	KMT2A (T542M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012359	NM_001197104.2(KMT2A):c.10409C>T (p.Ser3470Phe)	KMT2A (S3467F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012168	NM_001197104.2(KMT2A):c.7917A>G (p.Gly2639=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012167	NM_001197104.2(KMT2A):c.3797C>G (p.Pro1266Arg)	KMT2A (P1266R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012113	NM_001197104.2(KMT2A):c.6079+12C>G	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011861	NM_001197104.2(KMT2A):c.6589C>T (p.Arg2197Cys)	KMT2A (R2194C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011479	NM_001197104.2(KMT2A):c.3594A>G (p.Gln1198=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011405	NM_001197104.2(KMT2A):c.10507G>C (p.Ala3503Pro)	KMT2A (A3503P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011177	NM_001197104.2(KMT2A):c.6159-10G>T	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011164	NM_001197104.2(KMT2A):c.7330C>T (p.His2444Tyr)	KMT2A (H2444Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011056	NM_001197104.2(KMT2A):c.165C>G (p.Pro55=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010918	NM_001197104.2(KMT2A):c.7106C>A (p.Ser2369Tyr)	KMT2A (S2369Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010406	NM_001197104.2(KMT2A):c.54CGG[5] (p.Gly23_Arg24insGly)	KMT2A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3010388	NM_001197104.2(KMT2A):c.186C>G (p.Ala62=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010227	NM_001197104.2(KMT2A):c.3791G>A (p.Arg1264Gln)	KMT2A (R1264Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009136	NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)	KMT2A (I3569V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009050	NM_001197104.2(KMT2A):c.4161T>C (p.Asn1387=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008923	NM_001197104.2(KMT2A):c.8274T>C (p.Ile2758=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008226	NM_001197104.2(KMT2A):c.4480-19C>T	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007538	NM_001197104.2(KMT2A):c.3796C>T (p.Pro1266Ser)	KMT2A (P1299S +1 more)	Single nucleotide variant (missense variant)	KMT2A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3007503	NM_001197104.2(KMT2A):c.3468G>A (p.Gly1156=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007406	NM_001197104.2(KMT2A):c.7837G>A (p.Gly2613Ser)	KMT2A (G2610S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006310	NM_001197104.2(KMT2A):c.9258G>A (p.Gln3086=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005792	NM_001197104.2(KMT2A):c.2338T>C (p.Leu780=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005007	NM_001197104.2(KMT2A):c.11147-7C>G	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3004839	NM_001197104.2(KMT2A):c.10900+13G>A	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004746	NM_001197104.2(KMT2A):c.7434C>T (p.Gly2478=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004125	NM_001197104.2(KMT2A):c.6085A>G (p.Met2029Val)	KMT2A (M2026V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002968	NM_001197104.2(KMT2A):c.6266C>A (p.Thr2089Asn)	KMT2A (T2086N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002766	NM_001197104.2(KMT2A):c.2937T>A (p.Thr979=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002527	NM_001197104.2(KMT2A):c.10274C>G (p.Ala3425Gly)	KMT2A (A3422G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002355	NM_001197104.2(KMT2A):c.2854G>A (p.Asp952Asn)	KMT2A (D985N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002204	NM_001197104.2(KMT2A):c.7516A>T (p.Met2506Leu)	KMT2A (M2503L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002075	NM_001197104.2(KMT2A):c.9528C>T (p.Phe3176=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002059	NM_001197104.2(KMT2A):c.788C>T (p.Thr263Met)	KMT2A (T296M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001197	NM_001197104.2(KMT2A):c.5835C>T (p.Thr1945=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001031	NM_001197104.2(KMT2A):c.5000G>A (p.Arg1667Gln)	KMT2A (R1664Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001014	NM_001197104.2(KMT2A):c.433-15T>C	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000978	NM_001197104.2(KMT2A):c.3335-14C>T	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000962	NM_001197104.2(KMT2A):c.4107T>C (p.Asn1369=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000580	NM_001197104.2(KMT2A):c.503-8A>G	KMT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000503	NM_001197104.2(KMT2A):c.8330A>G (p.His2777Arg)	KMT2A (H2807R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998205	NM_001197104.2(KMT2A):c.3534G>A (p.Lys1178=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998145	NM_001197104.2(KMT2A):c.3709G>A (p.Val1237Met)	KMT2A (V1237M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998133	NM_001197104.2(KMT2A):c.6410G>A (p.Cys2137Tyr)	KMT2A (C2134Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997724	NM_001197104.2(KMT2A):c.261_272del (p.Ala89_Ser92del)	KMT2A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2996265	NM_001197104.2(KMT2A):c.146G>A (p.Gly49Asp)	KMT2A (G49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995864	NM_001197104.2(KMT2A):c.1638A>G (p.Leu546=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995737	NM_001197104.2(KMT2A):c.2257C>T (p.His753Tyr)	KMT2A (H786Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995293	NM_001197104.2(KMT2A):c.717G>A (p.Lys239=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995066	NM_001197104.2(KMT2A):c.1641A>G (p.Ser547=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995051	NM_001197104.2(KMT2A):c.6712G>A (p.Asp2238Asn)	KMT2A (D2235N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994504	NM_001197104.2(KMT2A):c.2619T>G (p.Ser873Arg)	KMT2A (S873R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994281	NM_001197104.2(KMT2A):c.11001A>G (p.Lys3667=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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