ClinVar for MedGen (Select 340266) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26638251.	NM_001197104.2(KMT2A):c.5959G>A (p.Glu1987Lys) GRCh37: Chr11:118369241 GRCh38: Chr11:118498526	KMT2A	E1984K, E1987K, E2017K	Wiedemann-Steiner syndrome	Uncertain significance	criteria provided, single submitter
Select item 26638182.	NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs) GRCh37: Chr11:118361991 GRCh38: Chr11:118491276	KMT2A	R1593fs, R1626fs	Wiedemann-Steiner syndrome	Pathogenic	criteria provided, single submitter
Select item 26279043.	NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu) GRCh37: Chr11:118348884 GRCh38: Chr11:118478169	KMT2A	F1179L, F1212L	Wiedemann-Steiner syndrome	Likely pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 25846854.	NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg) GRCh37: Chr11:118348810 GRCh38: Chr11:118478095	KMT2A	C1155R, C1188R	Wiedemann-Steiner syndrome	Likely pathogenic (Sep 30, 2020)	no assertion criteria provided
Select item 25845055.	NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs) GRCh37: Chr11:118374156-118374168 GRCh38: Chr11:118503441-118503453	KMT2A	P2515fs, P2518fs, P2548fs	Wiedemann-Steiner syndrome	Pathogenic	criteria provided, single submitter
Select item 25823506.	NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs) GRCh37: Chr11:118373854 GRCh38: Chr11:118503139	KMT2A	I2414fs, I2417fs, I2447fs	Wiedemann-Steiner syndrome	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 25739867.	NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter) GRCh37: Chr11:118348684 GRCh38: Chr11:118477969	KMT2A	K1113, K1146	Wiedemann-Steiner syndrome	Pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25730878.	NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs) GRCh37: Chr11:118352587 GRCh38: Chr11:118481872	KMT2A	K1265fs, K1298fs	Wiedemann-Steiner syndrome	Pathogenic (Jun 20, 2023)	criteria provided, single submitter
Select item 25730839.	NM_001197104.2(KMT2A):c.293del (p.Ser97_Ser98insTer) GRCh37: Chr11:118307520 GRCh38: Chr11:118436805	KMT2A		Wiedemann-Steiner syndrome	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 257301310.	NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs) GRCh37: Chr11:118376291 GRCh38: Chr11:118505576	KMT2A	L3226fs, L3229fs, L3259fs	Wiedemann-Steiner syndrome	Likely pathogenic (Apr 19, 2023)	criteria provided, single submitter
Select item 257259411.	NM_001197104.2(KMT2A):c.6158+1del GRCh37: Chr11:118370629 GRCh38: Chr11:118499914	KMT2A		Wiedemann-Steiner syndrome	Likely pathogenic	criteria provided, single submitter
Select item 257228912.	NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs) GRCh37: Chr11:118375931-118375935 GRCh38: Chr11:118505216-118505220	KMT2A	S3106fs, S3109fs, S3139fs	Wiedemann-Steiner syndrome	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 257205813.	NM_001197104.2(KMT2A):c.10051del (p.Thr3351fs) GRCh37: Chr11:118376656 GRCh38: Chr11:118505941	KMT2A	T3348fs, T3351fs, T3381fs	Wiedemann-Steiner syndrome	Pathogenic (Jul 11, 2023)	criteria provided, single submitter
Select item 257060714.	NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs) GRCh37: Chr11:118360911-118360912 GRCh38: Chr11:118490196-118490197	KMT2A	W1549fs, W1582fs	Wiedemann-Steiner syndrome	Pathogenic	criteria provided, single submitter
Select item 250090615.	NM_001197104.2(KMT2A):c.11072-1G>A GRCh37: Chr11:118382665 GRCh38: Chr11:118511950	KMT2A, TTC36-AS1		Wiedemann-Steiner syndrome	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 249954416.	NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro) GRCh37: Chr11:118382717 GRCh38: Chr11:118512002	KMT2A, TTC36-AS1	R3705P, R3708P, R3738P	Wiedemann-Steiner syndrome	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 244218017.	NM_001197104.2(KMT2A):c.31G>A (p.Ala11Thr) GRCh37: Chr11:118307258 GRCh38: Chr11:118436543	KMT2A	A11T	Wiedemann-Steiner syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 244188918.	NM_001197104.2(KMT2A):c.10840G>C (p.Val3614Leu) GRCh37: Chr11:118379855 GRCh38: Chr11:118509140	KMT2A	V3611L, V3614L, V3644L	Wiedemann-Steiner syndrome	Uncertain significance (Dec 20, 2022)	criteria provided, single submitter
Select item 244182719.	NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs) GRCh37: Chr11:118343144-118343145 GRCh38: Chr11:118472429-118472430	KMT2A	R426fs	Wiedemann-Steiner syndrome	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 244169120.	NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu) GRCh37: Chr11:118307352 GRCh38: Chr11:118436637	KMT2A	P42L	Wiedemann-Steiner syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 244100721.	NM_001197104.2(KMT2A):c.6079+2T>C GRCh37: Chr11:118370137 GRCh38: Chr11:118499422	KMT2A		Wiedemann-Steiner syndrome	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 244100322.	NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs) GRCh37: Chr11:118344943-118344944 GRCh38: Chr11:118474228-118474229	KMT2A	A1024fs	Wiedemann-Steiner syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 243317323.	NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn) GRCh37: Chr11:118373380 GRCh38: Chr11:118502665	KMT2A	S2255N, S2258N, S2288N	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243317224.	NM_001197104.2(KMT2A):c.1064T>C (p.Ile355Thr) GRCh37: Chr11:118342938 GRCh38: Chr11:118472223	KMT2A	I355T, I388T	Wiedemann-Steiner syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 243317125.	NM_001197104.2(KMT2A):c.1A>T (p.Met1Leu) GRCh37: Chr11:118307228 GRCh38: Chr11:118436513	KMT2A	M1L	Wiedemann-Steiner syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 243010226.	NM_001197104.2(KMT2A):c.3569+2T>G GRCh37: Chr11:118348918 GRCh38: Chr11:118478203	KMT2A		Wiedemann-Steiner syndrome	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 241271827.	NM_001197104.2(KMT2A):c.10853del (p.Pro3618fs) GRCh37: Chr11:118379867 GRCh38: Chr11:118509152	KMT2A	P3615fs, P3618fs	Wiedemann-Steiner syndrome	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 241271728.	NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter) GRCh37: Chr11:118359418 GRCh38: Chr11:118488703	KMT2A	W1507, W1474	Wiedemann-Steiner syndrome	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 207943229.	NM_001197104.2(KMT2A):c.464AAG[1] (p.Glu156del) GRCh37: Chr11:118339520-118339522 GRCh38: Chr11:118468805-118468807	KMT2A	E156del, E189del	not provided, Wiedemann-Steiner syndrome	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203423730.	NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter) GRCh37: Chr11:118344482 GRCh38: Chr11:118473767	KMT2A	K870, K903	Wiedemann-Steiner syndrome, not provided	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 199240031.	NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs) GRCh37: Chr11:118382714 GRCh38: Chr11:118511999	TTC36-AS1, KMT2A	R3705fs, R3708fs	Wiedemann-Steiner syndrome	Pathogenic (Apr 14, 2022)	criteria provided, single submitter
Select item 180629332.	NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs) GRCh37: Chr11:118344303-118344304 GRCh38: Chr11:118473588-118473589	KMT2A	E811fs	Wiedemann-Steiner syndrome	Pathogenic (May 26, 2020)	criteria provided, single submitter
Select item 180624933.	NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr) GRCh37: Chr11:118343484 GRCh38: Chr11:118472769	KMT2A	S537T, S570T	Wiedemann-Steiner syndrome	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 180623234.	NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu) GRCh37: Chr11:118344200 GRCh38: Chr11:118473485	KMT2A	V776L, V809L	Wiedemann-Steiner syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180604835.	NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys) GRCh37: Chr11:118342400 GRCh38: Chr11:118471685	KMT2A	R176C, R209C	Wiedemann-Steiner syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180601636.	NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg) GRCh37: Chr11:118376518 GRCh38: Chr11:118505803	KMT2A	L3301R, L3304R, L3334R	Wiedemann-Steiner syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180596537.	NM_001197104.2(KMT2A):c.5005-3T>C GRCh37: Chr11:118363769 GRCh38: Chr11:118493054	KMT2A		Wiedemann-Steiner syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180591638.	NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile) GRCh37: Chr11:118362554 GRCh38: Chr11:118491839	KMT2A	L1636I, L1639I, L1669I	Wiedemann-Steiner syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180557139.	NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs) GRCh37: Chr11:118382666-118382667 GRCh38: Chr11:118511951-118511952	KMT2A, TTC36-AS1	A3689fs, A3692fs	Wiedemann-Steiner syndrome	Pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 180535440.	NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs) GRCh37: Chr11:118367074-118367075 GRCh38: Chr11:118496359-118496360	KMT2A	S1883fs, S1886fs	Wiedemann-Steiner syndrome	Pathogenic (Aug 28, 2019)	criteria provided, single submitter
Select item 180535341.	NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe) GRCh37: Chr11:118355659 GRCh38: Chr11:118484944	KMT2A	C1434F, C1467F	Wiedemann-Steiner syndrome	Likely pathogenic (Aug 28, 2019)	criteria provided, single submitter
Select item 180535242.	NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr) GRCh37: Chr11:118347646 GRCh38: Chr11:118476931	KMT2A	A1095T, A1128T	Wiedemann-Steiner syndrome	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 180523643.	NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs) GRCh37: Chr11:118375802 GRCh38: Chr11:118505087	KMT2A	A3063fs, A3066fs	Wiedemann-Steiner syndrome	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 180515544.	NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr) GRCh37: Chr11:118342956 GRCh38: Chr11:118472241	KMT2A	I361T, I394T	Wiedemann-Steiner syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180495945.	NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs) GRCh37: Chr11:118374359 GRCh38: Chr11:118503644	KMT2A	D2582fs, D2585fs	Wiedemann-Steiner syndrome	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180399246.	NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter) GRCh37: Chr11:118363934-118363935 GRCh38: Chr11:118493219-118493220	KMT2A	Y1720, Y1723	Wiedemann-Steiner syndrome	Pathogenic (Mar 5, 2021)	criteria provided, single submitter
Select item 180254347.	NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter) GRCh37: Chr11:118350934 GRCh38: Chr11:118480219	KMT2A	Y1205, Y1238	Wiedemann-Steiner syndrome	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 180251948.	NM_001197104.2(KMT2A):c.8823T>A (p.Ser2941Arg) GRCh37: Chr11:118375430 GRCh38: Chr11:118504715	KMT2A	S2938R, S2941R, S2971R	Wiedemann-Steiner syndrome	not provided	no assertion provided
Select item 171019449.	NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg) GRCh37: Chr11:118361974 GRCh38: Chr11:118491259	KMT2A	Q1587R	Wiedemann-Steiner syndrome	Likely pathogenic (Feb 1, 2022)	no assertion criteria provided
Select item 170987650.	NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile) GRCh37: Chr11:118343944 GRCh38: Chr11:118473229	KMT2A	M690I	Wiedemann-Steiner syndrome	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 170945951.	NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs) GRCh37: Chr11:118374547-118374548 GRCh38: Chr11:118503832-118503833	KMT2A	I2645fs, I2648fs	Wiedemann-Steiner syndrome	Likely pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 170929952.	NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His) GRCh37: Chr11:118390716 GRCh38: Chr11:118520001	TTC36-AS1, KMT2A	R3786H, R3789H	Wiedemann-Steiner syndrome	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 170907953.	NM_001197104.2(KMT2A):c.6320-1G>A GRCh37: Chr11:118372386 GRCh38: Chr11:118501671	KMT2A		Wiedemann-Steiner syndrome	Likely pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 170896754.	NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg) GRCh37: Chr11:118374051 GRCh38: Chr11:118503336	KMT2A	C2479R, C2482R	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170556055.	NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs) GRCh37: Chr11:118370608-118370609 GRCh38: Chr11:118499893-118499894	KMT2A	F2045fs, F2048fs	Wiedemann-Steiner syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170526256.	NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs) GRCh37: Chr11:118373903-118373904 GRCh38: Chr11:118503188-118503189	KMT2A	S2432fs, S2435fs	Wiedemann-Steiner syndrome	Pathogenic	no assertion criteria provided
Select item 170011657.	NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) GRCh37: Chr11:118376125-118376126 GRCh38: Chr11:118505410-118505411	KMT2A		Wiedemann-Steiner syndrome	Pathogenic	criteria provided, single submitter
Select item 169883258.	NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) GRCh37: Chr11:118376667-118376668 GRCh38: Chr11:118505952-118505953	KMT2A	T3353fs, T3356fs	Wiedemann-Steiner syndrome	Pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 169669959.	NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) GRCh37: Chr11:118359429 GRCh38: Chr11:118488714	KMT2A	R1478H	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169667060.	NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) GRCh37: Chr11:118377156 GRCh38: Chr11:118506441	KMT2A	G3514S, G3517S	Wiedemann-Steiner syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 169658261.	NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) GRCh37: Chr11:118307453 GRCh38: Chr11:118436738	KMT2A	G76W	Wiedemann-Steiner syndrome	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 169590062.	NM_001197104.2(KMT2A):c.10292_10296dup (p.Pro3433fs) GRCh37: Chr11:118376898-118376899 GRCh38: Chr11:118506183-118506184	KMT2A	P3430fs, P3433fs	Wiedemann-Steiner syndrome	not provided	no assertion provided
Select item 169331263.	NM_001197104.2(KMT2A):c.5363+1G>A GRCh37: Chr11:118365483 GRCh38: Chr11:118494768	KMT2A		Wiedemann-Steiner syndrome	Pathogenic	no assertion criteria provided
Select item 169109364.	NM_001197104.2(KMT2A):c.905G>A (p.Arg302Gln) GRCh37: Chr11:118342779 GRCh38: Chr11:118472064	KMT2A	R302Q	Wiedemann-Steiner syndrome	Uncertain significance (Aug 11, 2021)	no assertion criteria provided
Select item 168757365.	NM_001197104.2(KMT2A):c.11514-2A>C GRCh37: Chr11:118392001 GRCh38: Chr11:118521286	KMT2A, TTC36-AS1		Wiedemann-Steiner syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168735666.	NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs) GRCh37: Chr11:118342528-118342532 GRCh38: Chr11:118471813-118471817	KMT2A	K220fs	Wiedemann-Steiner syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168591367.	NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) GRCh37: Chr11:118374811-118374832 GRCh38: Chr11:118504096-118504117	KMT2A	A2732fs, A2735fs	Wiedemann-Steiner syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168591168.	NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) GRCh37: Chr11:118374521 GRCh38: Chr11:118503806	KMT2A	Y2635, Y2638	Wiedemann-Steiner syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168591069.	NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) GRCh37: Chr11:118373595 GRCh38: Chr11:118502880	KMT2A	G2327fs, G2330fs	Wiedemann-Steiner syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168590970.	NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) GRCh37: Chr11:118348808 GRCh38: Chr11:118478093	KMT2A	C1155fs	Wiedemann-Steiner syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168536171.	NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp) GRCh37: Chr11:118348894 GRCh38: Chr11:118478179	KMT2A	N1183D	Wiedemann-Steiner syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168376172.	NM_001197104.2(KMT2A):c.2143G>A (p.Val715Ile) GRCh37: Chr11:118344017 GRCh38: Chr11:118473302	KMT2A	V715I	Wiedemann-Steiner syndrome	Uncertain significance (Mar 3, 2021)	criteria provided, single submitter
Select item 168355273.	NM_001197104.2(KMT2A):c.6357del (p.Ile2119_Ile2120insTer) GRCh37: Chr11:118372423 GRCh38: Chr11:118501708	KMT2A		Wiedemann-Steiner syndrome	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 168355174.	NM_001197104.2(KMT2A):c.1512C>A (p.Ser504Arg) GRCh37: Chr11:118343386 GRCh38: Chr11:118472671	KMT2A	S504R	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167977675.	NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) GRCh37: Chr11:118373239 GRCh38: Chr11:118502524	KMT2A	R2208Q, R2211Q	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167968376.	NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) GRCh37: Chr11:118344803 GRCh38: Chr11:118474088	KMT2A	G977S	Wiedemann-Steiner syndrome	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 167934577.	NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs) GRCh37: Chr11:118376052-118376053 GRCh38: Chr11:118505337-118505338	KMT2A	S3148fs, S3151fs	Wiedemann-Steiner syndrome	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167927778.	NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) GRCh37: Chr11:118354982 GRCh38: Chr11:118484267	KMT2A	Q1391*	Wiedemann-Steiner syndrome	Pathogenic/Likely pathogenic (Aug 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167925479.	NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs) GRCh37: Chr11:118374597 GRCh38: Chr11:118503882	KMT2A	A2661fs, A2664fs	Wiedemann-Steiner syndrome	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167910380.	NM_001197104.2(KMT2A):c.2958_2959insGTTG (p.Lys987fs) GRCh37: Chr11:118344831-118344832 GRCh38: Chr11:118474116-118474117	KMT2A	K987fs	Wiedemann-Steiner syndrome	not provided	no assertion provided
Select item 167682881.	NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter) GRCh37: Chr11:118343711 GRCh38: Chr11:118472996	KMT2A	R613*	Wiedemann-Steiner syndrome	Pathogenic	no assertion criteria provided
Select item 167144282.	NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=) GRCh37: Chr11:118375949 GRCh38: Chr11:118505234	KMT2A		Wiedemann-Steiner syndrome, not provided	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165181983.	NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=) GRCh37: Chr11:118375304 GRCh38: Chr11:118504589	KMT2A		not provided, Wiedemann-Steiner syndrome	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163308884.	NM_001197104.2(KMT2A):c.6158+9C>T GRCh37: Chr11:118370637 GRCh38: Chr11:118499922	KMT2A		Wiedemann-Steiner syndrome, not provided	Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160046185.	NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys) GRCh37: Chr11:118373257 GRCh38: Chr11:118502542	KMT2A	R2214K, R2217K	Wiedemann-Steiner syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 156628186.	NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) GRCh37: Chr11:118307362 GRCh38: Chr11:118436647	KMT2A		Wiedemann-Steiner syndrome, not provided	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152794687.	NM_001197104.2(KMT2A):c.10934dup (p.Ser3646fs) GRCh37: Chr11:118380693-118380694 GRCh38: Chr11:118509978-118509979	KMT2A	S3643fs, S3646fs	Wiedemann-Steiner syndrome	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 152614988.	NM_001197104.2(KMT2A):c.9035del (p.Cys3012fs) GRCh37: Chr11:118375642 GRCh38: Chr11:118504927	KMT2A	C3009fs, C3012fs	Wiedemann-Steiner syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 152602889.	NM_001197104.2(KMT2A):c.2982_2988del (p.Ser995fs) GRCh37: Chr11:118344856-118344862 GRCh38: Chr11:118474141-118474147	KMT2A	S995fs	Wiedemann-Steiner syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 148345390.	NM_001197104.2(KMT2A):c.188CGG[7] (p.Ala66_Ala67dup) GRCh37: Chr11:118307413-118307414 GRCh38: Chr11:118436698-118436699	KMT2A		not provided, Wiedemann-Steiner syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146147491.	NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu) GRCh37: Chr11:118372441 GRCh38: Chr11:118501726	KMT2A	P2122L, P2125L	Wiedemann-Steiner syndrome, not provided	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140045592.	NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) GRCh37: Chr11:118344474 GRCh38: Chr11:118473759	KMT2A	S867N	Wiedemann-Steiner syndrome, See cases, not provided	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138246993.	NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala) GRCh37: Chr11:118373316 GRCh38: Chr11:118502601	KMT2A	T2234A, T2237A	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137357094.	NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) GRCh37: Chr11:118307436 GRCh38: Chr11:118436721	KMT2A	S70N	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135583695.	NM_001197104.2(KMT2A):c.7354C>G (p.Pro2452Ala) GRCh37: Chr11:118373961 GRCh38: Chr11:118503246	KMT2A	P2452A, P2449A	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 135082496.	NM_001197104.2(KMT2A):c.9635C>T (p.Thr3212Ile) GRCh37: Chr11:118376242 GRCh38: Chr11:118505527	KMT2A	T3209I, T3212I	not provided, Wiedemann-Steiner syndrome	Uncertain significance (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134326697.	NM_001197104.2(KMT2A):c.69del (p.Arg24fs) GRCh37: Chr11:118307291 GRCh38: Chr11:118436576	KMT2A	R24fs	Wiedemann-Steiner syndrome	Likely pathogenic (Mar 23, 2021)	criteria provided, single submitter
Select item 134264698.	NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) GRCh37: Chr11:118344671 GRCh38: Chr11:118473956	KMT2A	R933W	not provided, Wiedemann-Steiner syndrome	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 134261999.	NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) GRCh37: Chr11:118373125 GRCh38: Chr11:118502410	KMT2A	P2170L, P2173L	Wiedemann-Steiner syndrome	Uncertain significance (Feb 5, 2021)	criteria provided, single submitter
Select item 1342479100.	NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) GRCh37: Chr11:118375986 GRCh38: Chr11:118505271	KMT2A	P3124S, P3127S	not provided, Wiedemann-Steiner syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts

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