ClinVar for MedGen (Select 340266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391277	NM_001197104.2(KMT2A):c.2216_2217del (p.Lys739fs)	KMT2A (K739fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3390854	NM_001197104.2(KMT2A):c.6611C>G (p.Ser2204Ter)	KMT2A (S2201* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3385398	NM_001197104.2(KMT2A):c.9668_9672del (p.Lys3223fs)	KMT2A (K3220fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3384135	NM_001197104.2(KMT2A):c.10881_10884del (p.Glu3629fs)	KMT2A (E3626fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3384134	NM_001197104.2(KMT2A):c.5239C>T (p.Gln1747Ter)	KMT2A (Q1744* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3383970	NM_001197104.2(KMT2A):c.7178del (p.Asn2393fs)	KMT2A (N2390fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3383965	NM_001197104.2(KMT2A):c.472dup (p.Arg158fs)	KMT2A (R158fs +1 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3383050	NM_001197104.2(KMT2A):c.8233A>T (p.Lys2745Ter)	KMT2A (K2742* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3382708	NM_001197104.2(KMT2A):c.8995C>T (p.Gln2999Ter)	KMT2A (Q2996* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3382146	NM_001197104.2(KMT2A):c.6226G>C (p.Glu2076Gln)	KMT2A (E2073Q +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3381765	NM_001197104.2(KMT2A):c.2632C>T (p.Arg878Trp)	KMT2A (R878W +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3381762	NM_001197104.2(KMT2A):c.4667_4668del (p.Cys1556fs)	KMT2A (C1556fs +1 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3377224	NM_001197104.2(KMT2A):c.10817_10821del (p.Glu3606fs)	KMT2A (E3603fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3377215	NM_001197104.2(KMT2A):c.5056C>G (p.Arg1686Gly)	KMT2A (R1683G +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3377207	NM_001197104.2(KMT2A):c.2431G>T (p.Glu811Ter)	KMT2A (E811* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3376402	NM_001197104.2(KMT2A):c.2317C>T (p.Pro773Ser)	KMT2A (P773S +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3376360	NM_001197104.2(KMT2A):c.8327G>A (p.Gly2776Asp)	KMT2A (G2773D +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3376346	NM_001197104.2(KMT2A):c.2546G>A (p.Arg849Lys)	KMT2A (R849K +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3376189	NM_001197104.2(KMT2A):c.1246G>A (p.Ala416Thr)	KMT2A (A416T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3374744	NM_001197104.2(KMT2A):c.3335-1G>C	KMT2A	Single nucleotide variant (splice acceptor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3370497	NM_001197104.2(KMT2A):c.1407del (p.Ser470fs)	KMT2A (S470fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3362660	NM_001197104.2(KMT2A):c.3656A>C (p.Lys1219Thr)	KMT2A (K1219T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3362590	NM_001197104.2(KMT2A):c.11206del (p.Gln3736fs)	KMT2A, TTC36-AS1 (Q3733fs +2 more)	Deletion (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3358950	NM_001197104.2(KMT2A):c.2206del (p.Arg736fs)	KMT2A (R736fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3340469	NM_001197104.2(KMT2A):c.653del (p.Ile218fs)	KMT2A (I218fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3256643	NM_001197104.2(KMT2A):c.9374T>G (p.Leu3125Trp)	KMT2A (L3122W +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3255014	NM_001197104.2(KMT2A):c.4575G>A (p.Trp1525Ter)	KMT2A (W1558* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3255013	NM_001197104.2(KMT2A):c.901C>T (p.Arg301Ter)	KMT2A (R301* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3254804	NM_001197104.2(KMT2A):c.7907C>T (p.Pro2636Leu)	KMT2A (P2633L +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3254803	NM_001197104.2(KMT2A):c.10870C>T (p.Gln3624Ter)	KMT2A (Q3621* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3254802	NM_001197104.2(KMT2A):c.10364_10375delinsAACACTATCAGCTTC (p.Leu3455_Asn3459delinsGlnHisTyrGlnLeuHis)	KMT2A	Indel (inframe_indel)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 3242597	NM_001197104.2(KMT2A):c.8874del (p.Glu2960fs)	KMT2A (E2957fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3236804	NM_001197104.2(KMT2A):c.5558-2A>G	KMT2A	Single nucleotide variant (splice acceptor variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3236226	NM_001197104.2(KMT2A):c.5639del (p.Cys1879_Leu1880insTer)	KMT2A	Deletion (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3233324	NM_001197104.2(KMT2A):c.6079G>C (p.Gly2027Arg)	KMT2A (G2024R +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
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 3068316	NM_001197104.2(KMT2A):c.3516T>A (p.Asn1172Lys)	KMT2A (N1172K +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GPathogenic
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 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 3024256	NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)	KMT2A (W1549* +1 more)	Duplication (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3009136	NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)	KMT2A (I3569V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2979314	NM_001197104.2(KMT2A):c.4678G>A (p.Ala1560Thr)	KMT2A (A1560T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
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 2820162	NM_001197104.2(KMT2A):c.8455T>C (p.Ser2819Pro)	KMT2A (S2849P +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2703752	NM_001197104.2(KMT2A):c.8136dup (p.Asp2713Ter)	KMT2A (D2710* +2 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 2691009	NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter)	KMT2A (K895* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
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 2683848	NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs)	KMT2A (G848fs +1 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2683841	NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)	KMT2A (G1181D +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2672117	NM_001197104.2(KMT2A):c.4013-2A>G	KMT2A	Single nucleotide variant (splice acceptor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2664752	NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)	KMT2A (I2995F +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2664194	NM_001197104.2(KMT2A):c.4361C>T (p.Pro1454Leu)	KMT2A (P1454L +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 2663825	NM_001197104.2(KMT2A):c.5959G>A (p.Glu1987Lys)	KMT2A (E1984K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2663818	NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs)	KMT2A (R1593fs +1 more)	Deletion (frameshift 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 2627904	NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu)	KMT2A (F1179L +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2584685	NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)	KMT2A (C1155R +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2584505	NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)	KMT2A (P2515fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
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 2573986	NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)	KMT2A (K1113* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
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 2572594	NM_001197104.2(KMT2A):c.6158+1del	KMT2A	Deletion (splice donor variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2572289	NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs)	KMT2A (S3106fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2572058	NM_001197104.2(KMT2A):c.10051del (p.Thr3351fs)	KMT2A (T3348fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2570607	NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs)	KMT2A (W1549fs +1 more)	Insertion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2504736	NM_001197104.2(KMT2A):c.6379C>T (p.Arg2127Ter)	KMT2A (R2124* +2 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome +1 more	GPathogenic
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 2498535	NM_001197104.2(KMT2A):c.3248G>A (p.Arg1083Gln)	KMT2A (R1083Q +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GUncertain significance
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 2441691	NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu)	KMT2A (P42L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441007	NM_001197104.2(KMT2A):c.6079+2T>C	KMT2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2441003	NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs)	KMT2A (A1024fs)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2433173	NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)	KMT2A (S2255N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2430102	NM_001197104.2(KMT2A):c.3569+2T>G	KMT2A	Single nucleotide variant (splice donor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2412718	NM_001197104.2(KMT2A):c.10853del (p.Pro3618fs)	KMT2A (P3615fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2412717	NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)	KMT2A (W1507* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2079432	NM_001197104.2(KMT2A):c.464AAG[1] (p.Glu156del)	KMT2A (E156del +1 more)	Microsatellite (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 2034237	NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)	KMT2A (K870* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1806293	NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)	KMT2A (E811fs)	Insertion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1806249	NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr)	KMT2A (S537T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1806232	NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu)	KMT2A (V776L +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1806048	NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys)	KMT2A (R176C +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1806016	NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg)	KMT2A (L3301R +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1805965	NM_001197104.2(KMT2A):c.5005-3T>C	KMT2A	Single nucleotide variant (intron variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1805916	NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile)	KMT2A (L1636I +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1805571	NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)	KMT2A, TTC36-AS1 (A3689fs +1 more)	Duplication (frameshift variant +1 more)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1805354	NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)	KMT2A (S1883fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1805353	NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe)	KMT2A (C1434F +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1805352	NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr)	KMT2A (A1095T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1805236	NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)	KMT2A (A3063fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic

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