ClinVar Miner

List of variants in gene NRXN1 reported as pathogenic

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Gene type:
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Total variants: 53
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HGVS dbSNP
GRCh37/hg19 2p16.3(chr2:50280210-51109690)x1
GRCh37/hg19 2p16.3(chr2:50516550-51259738)x1
GRCh37/hg19 2p16.3(chr2:50590641-50914155)x1
GRCh37/hg19 2p16.3(chr2:50690712-51147280)x1
GRCh37/hg19 2p16.3(chr2:50707763-50793781)x1
GRCh37/hg19 2p16.3(chr2:50804279-51027599)x1
GRCh37/hg19 2p16.3(chr2:50813343-50948464)x1
GRCh37/hg19 2p16.3(chr2:50838594-51119793)x1
GRCh37/hg19 2p16.3(chr2:50905757-51249333)x1
GRCh37/hg19 2p16.3(chr2:50959192-51402934)x1
GRCh37/hg19 2p16.3(chr2:50964034-51227294)x1
GRCh37/hg19 2p16.3(chr2:50964034-51915187)x1
GRCh37/hg19 2p16.3(chr2:51005771-51246088)x1
GRCh37/hg19 2p16.3(chr2:51032041-51189570)x1
GRCh37/hg19 2p16.3(chr2:51062935-51463501)x1
GRCh37/hg19 2p16.3(chr2:51078335-51562416)x1
GRCh37/hg19 2p16.3(chr2:51083410-51314371)x1
GRCh37/hg19 2p16.3(chr2:51083410-51382872)x1
GRCh37/hg19 2p16.3(chr2:51089735-51263065)x1
GRCh37/hg19 2p16.3(chr2:51107486-51375539)x1
GRCh37/hg19 2p16.3(chr2:51113043-51257100)x1
GRCh37/hg19 2p16.3(chr2:51146817-51854353)x1
GRCh37/hg19 2p16.3(chr2:51148483-51259200)x1
GRCh37/hg19 2p16.3(chr2:51148483-51314430)x1
GRCh37/hg19 2p16.3(chr2:51191164-51354468)x1
GRCh37/hg19 2p16.3(chr2:51193626-51382813)x1
GRCh37/hg19 2p16.3(chr2:51225621-51304763)x1
GRCh37/hg19 2p16.3(chr2:51225621-51337449)x1
GRCh37/hg19 2p16.3(chr2:51229995-51363342)x1
GRCh37/hg19 2p16.3(chr2:51234059-51263065)x1
GRCh37/hg19 2p16.3(chr2:51238789-51309967)x1
GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1
GRCh38/hg38 2p16.3(chr2:50710306-50999091)x1
GRCh38/hg38 2p16.3(chr2:50754975-50999091)x1
GRCh38/hg38 2p16.3(chr2:50827235-50953482)x1
GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1
GRCh38/hg38 2p16.3(chr2:50856272-50999091)x1
GRCh38/hg38 2p16.3(chr2:50860917-51029929)x1
GRCh38/hg38 2p16.3(chr2:50915711-50999091)x1
GRCh38/hg38 2p16.3(chr2:50944985-51024360)x1
NC_000002.12:g.(?_50053251)_(50055064_?)del
NC_000002.12:g.(?_50528605)_(50553045_?)del
NC_000002.12:g.(?_50721552)_(50944617_?)del
NC_000002.12:g.(?_51026351)_(51032054_?)del
NC_000002.12:g.50830687_50945045del114359
NM_001135659.2(NRXN1):c.2205G>A (p.Trp735Ter) rs1553759318
NM_001135659.2(NRXN1):c.3008del (p.His1003Leufs) rs796052787
NM_001135659.2(NRXN1):c.3056C>G (p.Ser1019Ter) rs267606922
NM_001135659.2(NRXN1):c.3365-2A>G rs886042846
NM_001135659.2(NRXN1):c.872-1G>T
NRXN1, 180-KB DEL, EX1-4
NRXN1, 287-KB DEL
NRXN1, 79-KB DEL

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