ClinVar Miner

List of variants reported as pathogenic for Complex neurodevelopmental disorder by GenomeConnect - Simons Searchlight

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
GRCh37/hg19 21q22.13(chr21:38744158-38830251)x1
GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1576T>C (p.Ser526Pro) rs1131691702
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter) rs886043237
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe) rs1948651947
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter) rs1555133077
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His) rs796053175
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs) rs1697695664
NM_001040142.2(SCN2A):c.167T>A (p.Leu56Ter) rs1553564213
NM_001040142.2(SCN2A):c.2388+1G>A rs1698674881
NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter) rs143065769
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) rs1064793850
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg) rs796053115
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3107_3108delinsG (p.Leu1036fs) rs1700077715
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4308+2T>C rs1553461672
NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal) rs1701554261
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer) rs1553462224
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.5318C>A (p.Ala1773Glu) rs1553463602
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2963C>G (p.Ser988Ter) rs2053970405
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs) rs1064794006
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs) rs1555990946
NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter) rs376106351
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs) rs1555979106
NM_001347721.2(DYRK1A):c.301-2A>G rs2052604858
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.424_439del (p.Asn142fs) rs2052610181
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) rs746177928
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer) rs1131691946
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.3408+1G>T rs1554122402
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.435_447dup (p.Leu150fs) rs1777196665
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352

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