KMT2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC130006816, LOC130006817 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC130006878, LOC130006879 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC130006837, LOC130006838 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC126861358, LOC126861359 +499 more	Copy number gain	See cases	GPathogenic
Select item 1202117	NC_000011.10:g.118436165C>T	KMT2A	Single nucleotide variant	not provided	GLikely benign
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 1312973	NM_001197104.2(KMT2A):c.14G>C (p.Cys5Ser)	KMT2A (C5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3660279	NM_001197104.2(KMT2A):c.18G>A (p.Arg6=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637324	NM_001197104.2(KMT2A):c.26T>G (p.Phe9Cys)	KMT2A (F9C)	Single nucleotide variant (missense variant)	KMT2A-related disorder	GLikely pathogenic
Select item 3684548	NM_001197104.2(KMT2A):c.27C>T (p.Phe9=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294976	NM_001197104.2(KMT2A):c.27C>A (p.Phe9Leu)	KMT2A (F9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1613775	NM_001197104.2(KMT2A):c.48C>T (p.Thr16=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010406	NM_001197104.2(KMT2A):c.54CGG[5] (p.Gly23_Arg24insGly)	KMT2A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 754854	NM_001197104.2(KMT2A):c.54C>T (p.Gly18=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415052	NM_001197104.2(KMT2A):c.58G>A (p.Gly20Ser)	KMT2A (G20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351359	NM_001197104.2(KMT2A):c.63C>A (p.Gly21=)	KMT2A	Single nucleotide variant (synonymous variant)	KMT2A-related disorder	GLikely benign
Select item 2066490	NM_001197104.2(KMT2A):c.63C>T (p.Gly21=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343266	NM_001197104.2(KMT2A):c.69del (p.Arg24fs)	KMT2A (R24fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2642416	NM_001197104.2(KMT2A):c.65G>C (p.Gly22Ala)	KMT2A (G22A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1535104	NM_001197104.2(KMT2A):c.69G>C (p.Gly23=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722262	NM_001197104.2(KMT2A):c.69G>A (p.Gly23=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555823	NM_001197104.2(KMT2A):c.78C>A (p.Gly26=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742776	NM_001197104.2(KMT2A):c.82G>A (p.Gly28Arg)	KMT2A (G28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363232	NM_001197104.2(KMT2A):c.82G>T (p.Gly28Trp)	KMT2A (G28W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1298527	NM_001197104.2(KMT2A):c.93_163del (p.Arg32fs)	KMT2A (R32fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2797050	NM_001197104.2(KMT2A):c.85G>T (p.Gly29Cys)	KMT2A (G29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469158	NM_001197104.2(KMT2A):c.89C>T (p.Ala30Val)	KMT2A (A30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158711	NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly)	KMT2A (A30G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2026903	NM_001197104.2(KMT2A):c.93G>A (p.Pro31=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737246	NM_001197104.2(KMT2A):c.94C>A (p.Arg32=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3663940	NM_001197104.2(KMT2A):c.99A>G (p.Gln33=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168186	NM_001197104.2(KMT2A):c.103G>A (p.Val35Ile)	KMT2A (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1630897	NM_001197104.2(KMT2A):c.105C>T (p.Val35=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3625526	NM_001197104.2(KMT2A):c.106_107delinsTT (p.Pro36Leu)	KMT2A (P36L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2786766	NM_001197104.2(KMT2A):c.107C>A (p.Pro36Gln)	KMT2A (P36Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389232	NM_001197104.2(KMT2A):c.107C>T (p.Pro36Leu)	KMT2A (P36L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3615339	NM_001197104.2(KMT2A):c.108G>T (p.Pro36=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3623726	NM_001197104.2(KMT2A):c.114G>A (p.Leu38=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3769505	NM_001197104.2(KMT2A):c.119T>G (p.Leu40Arg)	KMT2A (L40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3634293	NM_001197104.2(KMT2A):c.121C>A (p.Pro41Thr)	KMT2A (P41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858326	NM_001197104.2(KMT2A):c.121C>G (p.Pro41Ala)	KMT2A (P41A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573843	NM_001197104.2(KMT2A):c.126del (p.Pro45fs)	KMT2A (P45fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1494545	NM_001197104.2(KMT2A):c.121C>T (p.Pro41Ser)	KMT2A (P41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 806743	NM_001197104.2(KMT2A):c.122C>G (p.Pro41Arg)	KMT2A (P41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441691	NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu)	KMT2A (P42L)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GUncertain significance
Select item 1440315	NM_001197104.2(KMT2A):c.127G>A (p.Gly43Arg)	KMT2A (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184436	NM_001197104.2(KMT2A):c.129del (p.Pro45fs)	KMT2A (P45fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2097772	NM_001197104.2(KMT2A):c.128G>A (p.Gly43Glu)	KMT2A (G43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706047	NM_001197104.2(KMT2A):c.129G>C (p.Gly43=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955863	NM_001197104.2(KMT2A):c.130C>T (p.Pro44Ser)	KMT2A (P44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184435	NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr)	KMT2A (P44T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 521924	NM_001197104.2(KMT2A):c.134del (p.Pro45fs)	KMT2A (P45fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2084713	NM_001197104.2(KMT2A):c.131C>A (p.Pro44His)	KMT2A (P44H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931213	NM_001197104.2(KMT2A):c.132C>A (p.Pro44=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693503	NM_001197104.2(KMT2A):c.133C>A (p.Pro45Thr)	KMT2A (P45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027819	NM_001197104.2(KMT2A):c.133C>T (p.Pro45Ser)	KMT2A (P45S)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1312769	NM_001197104.2(KMT2A):c.134C>G (p.Pro45Arg)	KMT2A (P45R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1566281	NM_001197104.2(KMT2A):c.135G>A (p.Pro45=)	KMT2A	Single nucleotide variant (synonymous variant)	Wiedemann-Steiner syndrome +1 more	GBenign/Likely benign
Select item 1444798	NM_001197104.2(KMT2A):c.137T>C (p.Val46Ala)	KMT2A (V46A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 429407	NM_001197104.2(KMT2A):c.139G>C (p.Gly47Arg)	KMT2A (G47R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2230102	NM_001197104.2(KMT2A):c.140G>A (p.Gly47Asp)	KMT2A (G47D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3683323	NM_001197104.2(KMT2A):c.142G>T (p.Gly48Cys)	KMT2A (G48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188831	NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs)	KMT2A (P51fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 3699980	NM_001197104.2(KMT2A):c.147C>A (p.Gly49=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590272	NM_001197104.2(KMT2A):c.147C>T (p.Gly49=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2967729	NM_001197104.2(KMT2A):c.148G>A (p.Gly50Ser)	KMT2A (G50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450262	NM_001197104.2(KMT2A):c.149G>A (p.Gly50Asp)	KMT2A (G50D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116629	NM_001197104.2(KMT2A):c.152C>G (p.Pro51Arg)	KMT2A (P51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3623567	NM_001197104.2(KMT2A):c.153C>T (p.Pro51=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026054	NM_001197104.2(KMT2A):c.153C>G (p.Pro51=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713647	NM_001197104.2(KMT2A):c.154G>A (p.Gly52Arg)	KMT2A (G52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547469	NM_001197104.2(KMT2A):c.154G>C (p.Gly52Arg)	KMT2A (G52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 252562	NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val)	KMT2A (A53V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2026818	NM_001197104.2(KMT2A):c.159G>T (p.Ala53=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558144	NM_001197104.2(KMT2A):c.160C>G (p.Pro54Ala)	KMT2A (P54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3672448	NM_001197104.2(KMT2A):c.163C>T (p.Pro55Ser)	KMT2A (P55S)	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 985579	NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs)	KMT2A (S56fs)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 802795	NM_001197104.2(KMT2A):c.173dup (p.Ala59fs)	KMT2A (A59fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1031917	NM_001197104.2(KMT2A):c.167C>A (p.Ser56Tyr)	KMT2A (S56Y)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GUncertain significance
Select item 985207	NM_001197104.2(KMT2A):c.173del (p.Pro58fs)	KMT2A (P58fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1640323	NM_001197104.2(KMT2A):c.168C>T (p.Ser56=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783643	NM_001197104.2(KMT2A):c.171C>G (p.Pro57=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792803	NM_001197104.2(KMT2A):c.171C>A (p.Pro57=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618099	NM_001197104.2(KMT2A):c.172C>A (p.Pro58Thr)	KMT2A (P58T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1511296	NM_001197104.2(KMT2A):c.172C>G (p.Pro58Ala)	KMT2A (P58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494166	NM_001197104.2(KMT2A):c.172C>T (p.Pro58Ser)	KMT2A (P58S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900983	NM_001197104.2(KMT2A):c.173C>G (p.Pro58Arg)	KMT2A (P58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872669	NM_001197104.2(KMT2A):c.173C>T (p.Pro58Leu)	KMT2A (P58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3388602	NM_001197104.2(KMT2A):c.174G>C (p.Pro58=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1331309	NM_001197104.2(KMT2A):c.176C>G (p.Ala59Gly)	KMT2A (A59G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642417	NM_001197104.2(KMT2A):c.177T>G (p.Ala59=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023323	NM_001197104.2(KMT2A):c.179_202del (p.Val60_Ala67del)	KMT2A	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance

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