ClinVar Miner

List of variants reported as benign for Pitt-Hopkins-like syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP
NM_001330078.2(NRXN1):c.*110G>A rs1045881
NM_001330078.2(NRXN1):c.*1327C>G rs12998798
NM_001330078.2(NRXN1):c.*1365A>G
NM_001330078.2(NRXN1):c.*1539C>G
NM_001330078.2(NRXN1):c.*1692T>C
NM_001330078.2(NRXN1):c.*1911G>T rs11885824
NM_001330078.2(NRXN1):c.*2105A>C
NM_001330078.2(NRXN1):c.*2372G>A rs116370948
NM_001330078.2(NRXN1):c.*2511G>C rs148938313
NM_001330078.2(NRXN1):c.*2878G>A
NM_001330078.2(NRXN1):c.*540T>A
NM_001330078.2(NRXN1):c.*967_*970dup rs3839058
NM_001330078.2(NRXN1):c.-281T>C rs35228545
NM_001330078.2(NRXN1):c.-421A>C rs67661616
NM_001330078.2(NRXN1):c.-563G>C rs62143025
NM_001330078.2(NRXN1):c.-602G>A rs62143026
NM_001330078.2(NRXN1):c.-883T>C rs10188340
NM_001330078.2(NRXN1):c.-951T>C rs2287235
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844
NM_001330078.2(NRXN1):c.1833T>C (p.Asp611=) rs190377845
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
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.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098
NM_001330078.2(NRXN1):c.4129-30181T>C
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.511C>T (p.Leu171=) rs1045874
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_014141.5(CNTNAP2):c.-115G>A rs2462603
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133
NM_014141.6(CNTNAP2):c.*1059A>T rs1062071
NM_014141.6(CNTNAP2):c.*1175_*1178TCTT[1] rs72035437
NM_014141.6(CNTNAP2):c.*1187G>A rs2530312
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397
NM_014141.6(CNTNAP2):c.*1557A>C rs3194
NM_014141.6(CNTNAP2):c.*175dup rs61125105
NM_014141.6(CNTNAP2):c.*2157A>G rs1062072
NM_014141.6(CNTNAP2):c.*2670T>G
NM_014141.6(CNTNAP2):c.*279C>A rs987456
NM_014141.6(CNTNAP2):c.*2921C>T rs10243309
NM_014141.6(CNTNAP2):c.*2935_*2936del rs544152145
NM_014141.6(CNTNAP2):c.*3144A>G rs17170999
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609
NM_014141.6(CNTNAP2):c.*3742A>G rs2530311
NM_014141.6(CNTNAP2):c.*3928C>T rs73473919
NM_014141.6(CNTNAP2):c.*3999dup rs35835723
NM_014141.6(CNTNAP2):c.*4738C>G rs10251347
NM_014141.6(CNTNAP2):c.*4797G>C rs2717829
NM_014141.6(CNTNAP2):c.*4839G>A rs10280038
NM_014141.6(CNTNAP2):c.*4934C>T rs2530310
NM_014141.6(CNTNAP2):c.*5022C>T
NM_014141.6(CNTNAP2):c.*600_*603CTGA[3] rs3058181
NM_014141.6(CNTNAP2):c.*678G>C
NM_014141.6(CNTNAP2):c.*916_*920TAGTT[1] rs569195865
NM_014141.6(CNTNAP2):c.-49T>G rs549396215
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
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.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2773+76del
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908
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.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT rs60451214
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3716-7_3716-6insTT rs72268642
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.