ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NC_000023.10:g.(?_99551255)_(99597093_?)del
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser)
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) rs1569314304
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly) rs773732791
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His)
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg)
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794

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