ClinVar Miner

List of variants reported as likely benign for Pitt-Hopkins-like syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_001135659.2(NRXN1):c.-1394G>T
NM_001330078.2(NRXN1):c.*2277G>A rs187875122
NM_001330078.2(NRXN1):c.*573A>C rs184870922
NM_001330078.2(NRXN1):c.*941dup rs3839057
NM_001330078.2(NRXN1):c.-209A>G rs112715587
NM_001330078.2(NRXN1):c.-217C>G rs201073462
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397
NM_014141.6(CNTNAP2):c.*1482A>T rs186254614
NM_014141.6(CNTNAP2):c.*2151A>G rs28369221
NM_014141.6(CNTNAP2):c.*2260C>A
NM_014141.6(CNTNAP2):c.*2665C>T rs7791181
NM_014141.6(CNTNAP2):c.*2875dup rs138367128
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302
NM_014141.6(CNTNAP2):c.*3433G>A rs142623983
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910
NM_014141.6(CNTNAP2):c.*3796C>T rs183556756
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348
NM_014141.6(CNTNAP2):c.*4071G>A rs147886818
NM_014141.6(CNTNAP2):c.*48G>A rs78018010
NM_014141.6(CNTNAP2):c.*818dup rs145690138
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073

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