Related gene-specific medical variations for Gene (Select 4297) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2980127	NM_001197104.2(KMT2A):c.11513+9A>G	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2978351	NM_001197104.2(KMT2A):c.11340G>C (p.Met3780Ile)	KMT2A, TTC36-AS1 (M3777I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974367	NM_001197104.2(KMT2A):c.11666G>A (p.Arg3889Gln)	KMT2A, TTC36-AS1 (R3919Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921263	NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)	KMT2A (S3612* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2920702	NM_001197104.2(KMT2A):c.10426G>C (p.Asp3476His)	KMT2A (D3473H +2 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2893948	NM_001197104.2(KMT2A):c.11270A>G (p.Asn3757Ser)	KMT2A, TTC36-AS1 (N3757S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2893502	NM_001197104.2(KMT2A):c.11115A>G (p.Ser3705=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877653	NM_001197104.2(KMT2A):c.11531G>A (p.Arg3844Gln)	KMT2A, TTC36-AS1 (R3841Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2876680	NM_001197104.2(KMT2A):c.11887G>A (p.Gly3963Ser)	KMT2A, TTC36-AS1 (G3963S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868676	NM_001197104.2(KMT2A):c.11721C>T (p.Phe3907=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864576	NM_001197104.2(KMT2A):c.11378A>G (p.Glu3793Gly)	KMT2A, TTC36-AS1 (E3793G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855612	NM_001197104.2(KMT2A):c.11620C>T (p.Arg3874Trp)	KMT2A, TTC36-AS1 (R3871W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849159	NM_001197104.2(KMT2A):c.11829C>G (p.Leu3943=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843982	NM_001197104.2(KMT2A):c.11303G>T (p.Arg3768Met)	KMT2A, TTC36-AS1 (R3768M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840525	NM_001197104.2(KMT2A):c.11147-12T>C	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2821974	NM_001197104.2(KMT2A):c.11643+7C>T	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818312	NM_001197104.2(KMT2A):c.11633A>T (p.Tyr3878Phe)	KMT2A, TTC36-AS1 (Y3875F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816476	NM_001197104.2(KMT2A):c.11430-18G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815668	NM_001197104.2(KMT2A):c.11146+20T>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2801920	NM_001197104.2(KMT2A):c.11388C>A (p.Pro3796=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801683	NM_001197104.2(KMT2A):c.11894A>G (p.Lys3965Arg)	KMT2A, TTC36-AS1 (K3962R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800693	NM_001197104.2(KMT2A):c.11257C>A (p.Pro3753Thr)	KMT2A, TTC36-AS1 (P3750T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797209	NM_001197104.2(KMT2A):c.11289T>C (p.Pro3763=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786900	NM_001197104.2(KMT2A):c.11196C>T (p.Phe3732=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2785524	NM_001197104.2(KMT2A):c.11644-6G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785385	NM_001197104.2(KMT2A):c.11072-18T>C	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2769832	NM_001197104.2(KMT2A):c.11429+20C>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756405	NM_001197104.2(KMT2A):c.11544T>C (p.Cys3848=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743380	NM_001197104.2(KMT2A):c.11768T>C (p.Ile3923Thr)	KMT2A, TTC36-AS1 (I3920T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735765	NM_001197104.2(KMT2A):c.11470C>T (p.Arg3824Trp)	KMT2A, TTC36-AS1 (R3821W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712151	NM_001197104.2(KMT2A):c.11812T>C (p.Tyr3938His)	KMT2A, TTC36-AS1 (Y3968H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710058	NM_001197104.2(KMT2A):c.11681A>T (p.Glu3894Val)	KMT2A, TTC36-AS1 (E3891V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702483	NM_001197104.2(KMT2A):c.11803C>T (p.Arg3935Cys)	KMT2A, TTC36-AS1 (R3935C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700567	NM_001197104.2(KMT2A):c.11291A>G (p.His3764Arg)	KMT2A, TTC36-AS1 (H3794R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697008	NM_001197104.2(KMT2A):c.11346C>A (p.Asn3782Lys)	KMT2A, TTC36-AS1 (N3779K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695601	NM_001197104.2(KMT2A):c.11204A>G (p.Glu3735Gly)	KMT2A, TTC36-AS1 (E3765G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2694999	NM_001197104.2(KMT2A):c.11370G>A (p.Gln3790=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694074	NM_001197104.2(KMT2A):c.11321+13_11321+15del	KMT2A, TTC36-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2693129	NM_001197104.2(KMT2A):c.11468T>C (p.Phe3823Ser)	KMT2A, TTC36-AS1 (F3823S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683921	NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)	KMT2A (R2656fs +2 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2672117	NM_001197104.2(KMT2A):c.4013-2A>G	KMT2A	Single nucleotide variant (splice acceptor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2663784	NM_001197104.2(KMT2A):c.5874_5878del (p.Phe1959fs)	KMT2A (F1956fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2663603	NM_001197104.2(KMT2A):c.11429+5G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2663208	NM_001197104.2(KMT2A):c.11324A>G (p.Lys3775Arg)	KMT2A, TTC36-AS1 (K3772R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627864	NM_001197104.2(KMT2A):c.11430-250_11643+240del	KMT2A, TTC36-AS1	Deletion (splice acceptor variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2597069	NM_001197104.2(KMT2A):c.11260G>A (p.Glu3754Lys)	KMT2A, TTC36-AS1 (E3754K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582350	NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs)	KMT2A (I2414fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2576190	NM_001197104.2(KMT2A):c.3044del (p.Lys1015fs)	KMT2A (K1015fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2573087	NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs)	KMT2A (K1265fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2573083	NM_001197104.2(KMT2A):c.293del (p.Ser97_Ser98insTer)	KMT2A	Deletion (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2573013	NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs)	KMT2A (L3226fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2504967	NM_001197104.2(KMT2A):c.11437A>G (p.Thr3813Ala)	KMT2A, TTC36-AS1 (T3810A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500906	NM_001197104.2(KMT2A):c.11072-1G>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 2499544	NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)	KMT2A, TTC36-AS1 (R3705P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2442180	NM_001197104.2(KMT2A):c.31G>A (p.Ala11Thr)	KMT2A (A11T)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 2441889	NM_001197104.2(KMT2A):c.10840G>C (p.Val3614Leu)	KMT2A (V3611L +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 2441827	NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs)	KMT2A (R426fs)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2441003	NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs)	KMT2A (A1024fs)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2433172	NM_001197104.2(KMT2A):c.1064T>C (p.Ile355Thr)	KMT2A (I355T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 2433171	NM_001197104.2(KMT2A):c.1A>T (p.Met1Leu)	KMT2A (M1L)	Single nucleotide variant (missense variant +1 more)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 2430104	NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)	KMT2A (Q3189P +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2430103	NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)	KMT2A (S279C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430102	NM_001197104.2(KMT2A):c.3569+2T>G	KMT2A	Single nucleotide variant (splice donor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2430095	NM_001197104.2(KMT2A):c.10835+1G>A	KMT2A	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2422045	NM_001197104.2(KMT2A):c.11281T>C (p.Leu3761=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421401	NM_001197104.2(KMT2A):c.11508C>T (p.Val3836=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281552	NM_001197104.2(KMT2A):c.11429G>T (p.Arg3810Leu)	KMT2A, TTC36-AS1 (R3807L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240320	NM_001197104.2(KMT2A):c.11643G>A (p.Lys3881=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 2194076	NM_001197104.2(KMT2A):c.11835C>T (p.Tyr3945=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192931	NM_001197104.2(KMT2A):c.11634C>T (p.Tyr3878=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189210	NM_001197104.2(KMT2A):c.11889C>T (p.Gly3963=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187270	NM_001197104.2(KMT2A):c.11523C>T (p.Ile3841=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2160615	NM_001197104.2(KMT2A):c.11513+7C>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134310	NM_001197104.2(KMT2A):c.11600G>A (p.Arg3867His)	KMT2A, TTC36-AS1 (R3867H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132745	NM_001197104.2(KMT2A):c.11429+17G>C	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129973	NM_001197104.2(KMT2A):c.11801T>C (p.Met3934Thr)	KMT2A, TTC36-AS1 (M3934T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126488	NM_001197104.2(KMT2A):c.11657A>G (p.Tyr3886Cys)	KMT2A, TTC36-AS1 (Y3886C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117884	NM_001197104.2(KMT2A):c.11637C>G (p.Asp3879Glu)	KMT2A, TTC36-AS1 (D3876E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111771	NM_001197104.2(KMT2A):c.11596A>G (p.Ile3866Val)	KMT2A, TTC36-AS1 (I3863V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104171	NM_001197104.2(KMT2A):c.11790C>T (p.Val3930=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101707	NM_001197104.2(KMT2A):c.11430-7C>G	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075637	NM_001197104.2(KMT2A):c.11442C>T (p.Ser3814=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2069889	NM_001197104.2(KMT2A):c.11466C>T (p.Arg3822=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054500	NM_001197104.2(KMT2A):c.11130G>A (p.Lys3710=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2052516	NM_001197104.2(KMT2A):c.11212T>C (p.Ser3738Pro)	KMT2A, TTC36-AS1 (S3738P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2036227	NM_001197104.2(KMT2A):c.11454A>G (p.Pro3818=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035842	NM_001197104.2(KMT2A):c.11185G>A (p.Ala3729Thr)	KMT2A, TTC36-AS1 (A3759T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2033788	NM_001197104.2(KMT2A):c.11765A>T (p.Asn3922Ile)	KMT2A, TTC36-AS1 (N3922I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020410	NM_001197104.2(KMT2A):c.11146+14G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2018793	NM_001197104.2(KMT2A):c.11644-10G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013968	NM_001197104.2(KMT2A):c.11329G>A (p.Ala3777Thr)	KMT2A, TTC36-AS1 (A3807T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992400	NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs)	KMT2A, TTC36-AS1 (R3705fs +1 more)	Deletion (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1965161	NM_001197104.2(KMT2A):c.11682G>A (p.Glu3894=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961082	NM_001197104.2(KMT2A):c.11072-16C>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1956886	NM_001197104.2(KMT2A):c.11514-15C>G	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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