ClinVar for MedGen (Select 340266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	not provided +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 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)	Wiedemann-Steiner syndrome +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
Select item 1805155	NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr)	KMT2A (I361T +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1804959	NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)	KMT2A (D2582fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1803992	NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)	KMT2A (Y1720* +1 more)	Duplication (nonsense +1 more)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1802543	NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter)	KMT2A (Y1205* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1802519	NM_001197104.2(KMT2A):c.8823T>A (p.Ser2941Arg)	KMT2A (S2938R +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	Gnot provided
Select item 1710194	NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg)	KMT2A (Q1587R)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1709876	NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile)	KMT2A (M690I)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1709459	NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs)	KMT2A (I2645fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1709299	NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His)	KMT2A, TTC36-AS1 (R3786H +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GUncertain significance
Select item 1709079	NM_001197104.2(KMT2A):c.6320-1G>A	KMT2A	Single nucleotide variant (splice acceptor variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1708967	NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg)	KMT2A (C2479R +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GUncertain significance
Select item 1705560	NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs)	KMT2A (F2045fs +1 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1705262	NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)	KMT2A (S2432fs +1 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1700116	NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer)	KMT2A	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1698832	NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs)	KMT2A (T3353fs +1 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1696699	NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His)	KMT2A (R1478H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696670	NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser)	KMT2A (G3514S +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1696582	NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp)	KMT2A (G76W)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1695900	NM_001197104.2(KMT2A):c.10292_10296dup (p.Pro3433fs)	KMT2A (P3430fs +1 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	Gnot provided
Select item 1693312	NM_001197104.2(KMT2A):c.5363+1G>A	KMT2A	Single nucleotide variant (splice donor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1691093	NM_001197104.2(KMT2A):c.905G>A (p.Arg302Gln)	KMT2A (R302Q)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1687573	NM_001197104.2(KMT2A):c.11514-2A>C	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1687356	NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs)	KMT2A (K220fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1685913	NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs)	KMT2A (A2732fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1685911	NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter)	KMT2A (Y2635* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1685910	NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs)	KMT2A (G2327fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1685909	NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs)	KMT2A (C1155fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1685361	NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp)	KMT2A (N1183D)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1683761	NM_001197104.2(KMT2A):c.2143G>A (p.Val715Ile)	KMT2A (V715I)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1683552	NM_001197104.2(KMT2A):c.6357del (p.Ile2119_Ile2120insTer)	KMT2A	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1683551	NM_001197104.2(KMT2A):c.1512C>A (p.Ser504Arg)	KMT2A (S504R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679776	NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln)	KMT2A (R2208Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679683	NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser)	KMT2A (G977S)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1679345	NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs)	KMT2A (S3148fs +1 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1679277	NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter)	KMT2A (Q1391*)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic/Likely pathogenic
Select item 1679254	NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs)	KMT2A (A2661fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1679103	NM_001197104.2(KMT2A):c.2958_2959insGTTG (p.Lys987fs)	KMT2A (K987fs)	Insertion (frameshift variant)	Wiedemann-Steiner syndrome	Gnot provided

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