ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 47
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HGVS dbSNP
NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) rs35087111
NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814
NM_003482.3(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.3(KMT2D):c.11641A>G (p.Met3881Val) rs797045657
NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) rs180784366
NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) rs398123710
NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) rs370665309
NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) rs587783694
NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.16412+13G>A rs587783701
NM_003482.3(KMT2D):c.1899G>T (p.Ser633=) rs769981040
NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.3(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307
NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) rs74643880
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.400+7_400+8insC rs797045664
NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) rs764941
NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) rs1368572
NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) rs764942
NM_003482.3(KMT2D):c.4182C>T (p.Leu1394=) rs797045665
NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.3(KMT2D):c.4366T>A (p.Cys1456Ser) rs797045666
NM_003482.3(KMT2D):c.4418+5G>A rs587783717
NM_003482.3(KMT2D):c.4941C>T (p.Thr1647=) rs748740454
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7981C>T (p.Leu2661Phe) rs1370465303
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) rs148457961
NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409
NM_003482.3(KMT2D):c.9765T>C (p.His3255=) rs146213252

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