ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
GRCh37/hg19 20q13.33(chr20:61038552-62907579)
GRCh37/hg19 20q13.33(chr20:61041481-62680992)
GRCh37/hg19 20q13.33(chr20:61273854-62907579)
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
GRCh37/hg19 20q13.33(chr20:61944468-62104030)
GRCh37/hg19 20q13.33(chr20:61974574-62078190)
GRCh37/hg19 20q13.33(chr20:61974574-62129187)
GRCh37/hg19 20q13.33(chr20:61986847-62055559)
GRCh37/hg19 20q13.33(chr20:61986847-62224435)
GRCh37/hg19 20q13.33(chr20:62069977-62129187)
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter) rs2065788445
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter) rs2140717180
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter) rs2140717041
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs) rs2140713406
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs) rs2140711872
NM_019066.5(MAGEL2):c.648del (p.Thr217fs) rs2140718089
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro) rs2145680256
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs) rs2145637592
NM_172107.4(KCNQ2):c.1623_1631+5del rs2145547209
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile) rs2145542277
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.367del (p.Glu123fs) rs2145789218
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val) rs2145776110
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys) rs2081363302
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg) rs1339542565
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936

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