ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance for Lissencephaly, Recessive

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Total variants: 67
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HGVS dbSNP
NM_002474.3(MYH11):c.*228T>C rs558010405
NM_002474.3(MYH11):c.*389C>G rs886051734
NM_002474.3(MYH11):c.*476_*477CA[1] rs768695681
NM_002474.3(MYH11):c.*519T>C rs886051732
NM_002474.3(MYH11):c.*577A>G rs886051731
NM_002474.3(MYH11):c.*662G>T rs573168314
NM_002474.3(MYH11):c.*764G>A rs886051728
NM_002474.3(MYH11):c.*804C>T rs886051727
NM_002474.3(MYH11):c.3858+567A>G rs886051757
NM_002474.3(MYH11):c.3858+616T>C rs886051756
NM_002474.3(MYH11):c.3858+789A>C rs147741620
NM_002474.3(MYH11):c.3859-157_3859-156insG rs1555553475
NM_002474.3(MYH11):c.3859-170GT[8] rs34909724
NM_002474.3(MYH11):c.3859-202G>A rs149894916
NM_002474.3(MYH11):c.3859-414T>C rs886051752
NM_002474.3(MYH11):c.3859-830T>C rs564847648
NM_002474.3(MYH11):c.3859-922G>T rs886051754
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.3963+44T>C rs770305005
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) rs886051746
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.3(MYH11):c.4116+106dup rs886051743
NM_002474.3(MYH11):c.4116+110C>T rs558625464
NM_002474.3(MYH11):c.4116+29A>G rs138543179
NM_002474.3(MYH11):c.4116+52G>A rs886051745
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) rs886051741
NM_002474.3(MYH11):c.4579-5G>A rs759760029
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) rs886051740
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318
NM_002474.3(MYH11):c.5172-13G>A rs373378619
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682
NM_002474.3(MYH11):c.5296-10T>C rs111858392
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.3(MYH11):c.5614-7G>A rs202120792
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) rs886051737
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) rs886051736
NM_002474.3(MYH11):c.5786+11C>T rs374454501
NM_017668.3(NDE1):c.*1388C>T rs886051753
NM_017668.3(NDE1):c.*193G>A rs745426392
NM_017668.3(NDE1):c.*1958_*1962TTCCC[3] rs886051755
NM_017668.3(NDE1):c.*559G>T rs886051747
NM_017668.3(NDE1):c.*896A>C rs113151354
NM_017668.3(NDE1):c.*898del rs60544332
NM_017668.3(NDE1):c.*898dup rs60544332
NM_017668.3(NDE1):c.947+6421_947+6422del rs886051729
NM_017668.3(NDE1):c.947+6531C>A rs370591283
NM_017668.3(NDE1):c.947+7227C>T rs764375446
NM_017668.3(NDE1):c.948-6837G>A rs886051739
NM_017668.3(NDE1):c.948-6974C>G rs886051738

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