| NM_003619.4(PRSS12):c.1355_1358del (p.Asp452fs) |
deletion |
Intellectual disability, autosomal recessive 1 [RCV000004317] |
Chr4:118313332..118313335 [GRCh38]
Chr4:119234487..119234490 [GRCh37]
Chr4:4q26 |
pathogenic |
| NM_003619.3(PRSS12):c.2039+2365G>A |
single nucleotide variant |
Lung cancer [RCV000094005] |
Chr4:118292574 [GRCh38]
Chr4:119213729 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.3(PRSS12):c.502+6794G>T |
single nucleotide variant |
Lung cancer [RCV000094006] |
Chr4:118345425 [GRCh38]
Chr4:119266580 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 |
copy number gain |
See cases [RCV000051785] |
Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2 |
pathogenic |
| GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] |
Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3 |
pathogenic |
| GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 |
copy number gain |
See cases [RCV000051776] |
Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3 |
pathogenic |
| GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 |
copy number loss |
See cases [RCV000053321] |
Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21 |
pathogenic |
| NM_003619.3(PRSS12):c.450C>T (p.Phe150=) |
single nucleotide variant |
Malignant melanoma [RCV000066260] |
Chr4:118352271 [GRCh38]
Chr4:119273426 [GRCh37]
Chr4:119492874 [NCBI36]
Chr4:4q26 |
not provided |
| NM_003619.3(PRSS12):c.667C>T (p.Pro223Ser) |
single nucleotide variant |
Malignant melanoma [RCV000060903] |
Chr4:118335626 [GRCh38]
Chr4:119256781 [GRCh37]
Chr4:119476229 [NCBI36]
Chr4:4q26 |
not provided |
| NM_003619.4(PRSS12):c.19G>A (p.Val7Met) |
single nucleotide variant |
Intellectual disability [RCV001256137]|not provided [RCV000118071]|not specified [RCV004019646] |
Chr4:118352702 [GRCh38]
Chr4:119273857 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2324G>A (p.Arg775Gln) |
single nucleotide variant |
not provided [RCV000118072] |
Chr4:118282240 [GRCh38]
Chr4:119203395 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1272T>G (p.Val424=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000337097]|PRSS12-related condition [RCV003964987]|not specified [RCV000118067] |
Chr4:118316202 [GRCh38]
Chr4:119237357 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000376373]|not specified [RCV000118068] |
Chr4:118316193 [GRCh38]
Chr4:119237348 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000398279]|not specified [RCV000118069] |
Chr4:118352557 [GRCh38]
Chr4:119273712 [GRCh37]
Chr4:4q26 |
benign |
| NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000272402]|not provided [RCV001762243]|not specified [RCV000118070] |
Chr4:118298754 [GRCh38]
Chr4:119219909 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV002498525]|not provided [RCV000973084]|not specified [RCV000118073] |
Chr4:118282175 [GRCh38]
Chr4:119203330 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.2498G>A (p.Arg833Gln) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000313428]|not specified [RCV000118074] |
Chr4:118282066 [GRCh38]
Chr4:119203221 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.910G>A (p.Val304Ile) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001333145] |
Chr4:118331777 [GRCh38]
Chr4:119252932 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1489_1489+1del |
deletion |
Mental retardation, autosomal recessive 1 [RCV001333143] |
Chr4:118313200..118313201 [GRCh38]
Chr4:119234355..119234356 [GRCh37]
Chr4:4q26 |
pathogenic |
| NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001333144] |
Chr4:118352467 [GRCh38]
Chr4:119273622 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh38/hg38 4q26(chr4:116090996-119545165)x1 |
copy number loss |
See cases [RCV000138236] |
Chr4:116090996..119545165 [GRCh38]
Chr4:117012152..120466320 [GRCh37]
Chr4:117231601..120685768 [NCBI36]
Chr4:4q26 |
likely pathogenic |
| GRCh38/hg38 4q26(chr4:117786007-118526099)x3 |
copy number gain |
See cases [RCV000142023] |
Chr4:117786007..118526099 [GRCh38]
Chr4:118707162..119447254 [GRCh37]
Chr4:118926610..119666702 [NCBI36]
Chr4:4q26 |
likely benign|uncertain significance |
| GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 |
copy number loss |
See cases [RCV000143207] |
Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3 |
pathogenic |
| NM_003619.4(PRSS12):c.380G>A (p.Trp127Ter) |
single nucleotide variant |
not specified [RCV000202652] |
Chr4:118352341 [GRCh38]
Chr4:119273496 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.51A>G (p.Glu17=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000307789]|not provided [RCV000963005]|not specified [RCV000192444] |
Chr4:118352670 [GRCh38]
Chr4:119273825 [GRCh37]
Chr4:4q26 |
benign|likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000764532]|PRSS12-related condition [RCV003927805]|not provided [RCV000969483]|not specified [RCV000193095] |
Chr4:118338294 [GRCh38]
Chr4:119259449 [GRCh37]
Chr4:4q26 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003619.4(PRSS12):c.1946G>A (p.Arg649Gln) |
single nucleotide variant |
not specified [RCV000193978] |
Chr4:118295032 [GRCh38]
Chr4:119216187 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.309G>C (p.Thr103=) |
single nucleotide variant |
not specified [RCV000194422] |
Chr4:118352412 [GRCh38]
Chr4:119273567 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.2320+6G>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000273578]|not specified [RCV000194992] |
Chr4:118282825 [GRCh38]
Chr4:119203980 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1490-7G>A |
single nucleotide variant |
not provided [RCV000956249]|not specified [RCV000195283] |
Chr4:118308584 [GRCh38]
Chr4:119229739 [GRCh37]
Chr4:4q26 |
likely pathogenic|benign|likely benign |
| NM_003619.4(PRSS12):c.*1504G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000262931] |
Chr4:118280432 [GRCh38]
Chr4:119201587 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1492T>A (p.Phe498Ile) |
single nucleotide variant |
not specified [RCV000193316] |
Chr4:118308575 [GRCh38]
Chr4:119229730 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.243G>C (p.Gln81His) |
single nucleotide variant |
not specified [RCV000193387] |
Chr4:118352478 [GRCh38]
Chr4:119273633 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.907A>G (p.Thr303Ala) |
single nucleotide variant |
not specified [RCV000194498] |
Chr4:118331780 [GRCh38]
Chr4:119252935 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1516G>A (p.Glu506Lys) |
single nucleotide variant |
Long QT syndrome [RCV000190143] |
Chr4:118308551 [GRCh38]
Chr4:119229706 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1270G>A (p.Val424Ile) |
single nucleotide variant |
not provided [RCV000224388] |
Chr4:118316204 [GRCh38]
Chr4:119237359 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.669G>A (p.Pro223=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000278554] |
Chr4:118335624 [GRCh38]
Chr4:119256779 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000284295] |
Chr4:118316197 [GRCh38]
Chr4:119237352 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*672C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000275571] |
Chr4:118281264 [GRCh38]
Chr4:119202419 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000266663]|not specified [RCV004021938] |
Chr4:118298930 [GRCh38]
Chr4:119220085 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.315C>T (p.Phe105=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000352197] |
Chr4:118352406 [GRCh38]
Chr4:119273561 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*208C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000300164] |
Chr4:118281728 [GRCh38]
Chr4:119202883 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.*807G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000333954] |
Chr4:118281129 [GRCh38]
Chr4:119202284 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000398832] |
Chr4:118338306 [GRCh38]
Chr4:119259461 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*920G>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000315751] |
Chr4:118281016 [GRCh38]
Chr4:119202171 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1558_*1559del |
deletion |
Intellectual Disability, Recessive [RCV000355255] |
Chr4:118280377..118280378 [GRCh38]
Chr4:119201532..119201533 [GRCh37]
Chr4:4q26 |
benign |
| NM_003619.4(PRSS12):c.*221A>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000400420] |
Chr4:118281715 [GRCh38]
Chr4:119202870 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*260CCTA[1] |
microsatellite |
Intellectual Disability, Recessive [RCV000378986] |
Chr4:118281669..118281672 [GRCh38]
Chr4:119202824..119202827 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1615C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000302730] |
Chr4:118280321 [GRCh38]
Chr4:119201476 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1865T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000304058] |
Chr4:118280071 [GRCh38]
Chr4:119201226 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.1773C>T (p.His591=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000381989]|PRSS12-related condition [RCV003932411]|not provided [RCV000956248] |
Chr4:118298797 [GRCh38]
Chr4:119219952 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000408067]|not provided [RCV000906827] |
Chr4:118282029 [GRCh38]
Chr4:119203184 [GRCh37]
Chr4:4q26 |
benign|uncertain significance |
| NM_003619.4(PRSS12):c.*764A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000386185] |
Chr4:118281172 [GRCh38]
Chr4:119202327 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000364430] |
Chr4:118294944 [GRCh38]
Chr4:119216099 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1660T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000391749] |
Chr4:118280276 [GRCh38]
Chr4:119201431 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000311419] |
Chr4:118352241 [GRCh38]
Chr4:119273396 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2460C>T (p.Ser820=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000370389] |
Chr4:118282104 [GRCh38]
Chr4:119203259 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2088T>C (p.His696=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000312348] |
Chr4:118283063 [GRCh38]
Chr4:119204218 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.820+3dup |
duplication |
Intellectual Disability, Recessive [RCV000375329] |
Chr4:118335462..118335463 [GRCh38]
Chr4:119256617..119256618 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.*830C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000276685] |
Chr4:118281106 [GRCh38]
Chr4:119202261 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.343G>A (p.Val115Met) |
single nucleotide variant |
not specified [RCV004326328] |
Chr4:118352378 [GRCh38]
Chr4:119273533 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*278T>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000345316] |
Chr4:118281658 [GRCh38]
Chr4:119202813 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1615C>T (p.Arg539Cys) |
single nucleotide variant |
not specified [RCV004285916] |
Chr4:118308452 [GRCh38]
Chr4:119229607 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*531C>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000385282] |
Chr4:118281405 [GRCh38]
Chr4:119202560 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.-57T>C |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000358261] |
Chr4:118352777 [GRCh38]
Chr4:119273932 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.*260C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000287306] |
Chr4:118281676 [GRCh38]
Chr4:119202831 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1512T>C (p.Asp504=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000324208] |
Chr4:118308555 [GRCh38]
Chr4:119229710 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*73GA[1] |
microsatellite |
Intellectual Disability, Recessive [RCV000338638] |
Chr4:118281860..118281861 [GRCh38]
Chr4:119203015..119203016 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*842C>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000355037] |
Chr4:118281094 [GRCh38]
Chr4:119202249 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1788A>T (p.Gly596=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000325084] |
Chr4:118298782 [GRCh38]
Chr4:119219937 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*233G>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000339960] |
Chr4:118281703 [GRCh38]
Chr4:119202858 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*526T>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000288587] |
Chr4:118281410 [GRCh38]
Chr4:119202565 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*583del |
deletion |
Intellectual Disability, Recessive [RCV000328319] |
Chr4:118281353 [GRCh38]
Chr4:119202508 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1699T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000361213] |
Chr4:118280237 [GRCh38]
Chr4:119201392 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_003619.4(PRSS12):c.1357G>A (p.Val453Ile) |
single nucleotide variant |
not specified [RCV000500943] |
Chr4:118313333 [GRCh38]
Chr4:119234488 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.936C>T (p.Ala312=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001149080]|not specified [RCV000501149] |
Chr4:118331751 [GRCh38]
Chr4:119252906 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.428G>A (p.Gly143Asp) |
single nucleotide variant |
not specified [RCV000503671] |
Chr4:118352293 [GRCh38]
Chr4:119273448 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.772G>A (p.Val258Met) |
single nucleotide variant |
not specified [RCV000501699] |
Chr4:118335521 [GRCh38]
Chr4:119256676 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2376G>A (p.Arg792=) |
single nucleotide variant |
not provided [RCV000918544]|not specified [RCV000504125] |
Chr4:118282188 [GRCh38]
Chr4:119203343 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.817C>G (p.His273Asp) |
single nucleotide variant |
not specified [RCV000501905] |
Chr4:118335476 [GRCh38]
Chr4:119256631 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) |
duplication |
Intellectual disability, autosomal recessive 1 [RCV002481624]|not specified [RCV000499463] |
Chr4:118283022..118283023 [GRCh38]
Chr4:119204177..119204178 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1917-9del |
deletion |
not specified [RCV000504323] |
Chr4:118295070 [GRCh38]
Chr4:119216225 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.977T>C (p.Ile326Thr) |
single nucleotide variant |
not specified [RCV000504531] |
Chr4:118318551 [GRCh38]
Chr4:119239706 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000509461]|not specified [RCV003479146] |
Chr4:118352684 [GRCh38]
Chr4:119273839 [GRCh37]
Chr4:4q26 |
uncertain significance|not provided |
| NM_003619.4(PRSS12):c.323C>G (p.Pro108Arg) |
single nucleotide variant |
not provided [RCV000883173]|not specified [RCV000499906] |
Chr4:118352398 [GRCh38]
Chr4:119273553 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.2147G>A (p.Arg716Gln) |
single nucleotide variant |
not specified [RCV000500179] |
Chr4:118283004 [GRCh38]
Chr4:119204159 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001270052]|not specified [RCV000502562] |
Chr4:118283097 [GRCh38]
Chr4:119204252 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_003619.4(PRSS12):c.997G>A (p.Ala333Thr) |
single nucleotide variant |
not specified [RCV000502774] |
Chr4:118318531 [GRCh38]
Chr4:119239686 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1746A>G (p.Gln582=) |
single nucleotide variant |
not specified [RCV000502799] |
Chr4:118298824 [GRCh38]
Chr4:119219979 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.804G>A (p.Thr268=) |
single nucleotide variant |
not specified [RCV000502916] |
Chr4:118335489 [GRCh38]
Chr4:119256644 [GRCh37]
Chr4:4q26 |
likely benign |
| GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 |
copy number gain |
See cases [RCV000511945] |
Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2 |
pathogenic |
| GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2 |
pathogenic |
| NM_003619.4(PRSS12):c.2216G>A (p.Cys739Tyr) |
single nucleotide variant |
not specified [RCV004316849] |
Chr4:118282935 [GRCh38]
Chr4:119204090 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146301]|not provided [RCV000514704]|not specified [RCV001821443] |
Chr4:118352693 [GRCh38]
Chr4:119273848 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.598G>A (p.Asp200Asn) |
single nucleotide variant |
not specified [RCV004313401] |
Chr4:118338219 [GRCh38]
Chr4:119259374 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 |
copy number loss |
not provided [RCV000682448] |
Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2 |
pathogenic |
| GRCh37/hg19 4q26(chr4:117108352-120317108)x1 |
copy number loss |
not provided [RCV000682449] |
Chr4:117108352..120317108 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q26(chr4:119114102-119543843)x3 |
copy number gain |
not provided [RCV000682451] |
Chr4:119114102..119543843 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001149077] |
Chr4:118316279 [GRCh38]
Chr4:119237434 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.48C>T (p.Pro16=) |
single nucleotide variant |
not provided [RCV000929479] |
Chr4:118352673 [GRCh38]
Chr4:119273828 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144492]|not provided [RCV000968042] |
Chr4:118352281 [GRCh38]
Chr4:119273436 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) |
deletion |
Intellectual disability, autosomal recessive 1 [RCV000779425]|not provided [RCV000940573] |
Chr4:118282075..118282076 [GRCh38]
Chr4:119203230..119203231 [GRCh37]
Chr4:4q26 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003619.4(PRSS12):c.1837+1G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000779426] |
Chr4:118298732 [GRCh38]
Chr4:119219887 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000779427] |
Chr4:118313295 [GRCh38]
Chr4:119234450 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000779428] |
Chr4:118335512 [GRCh38]
Chr4:119256667 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.645A>G (p.Gly215=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150582]|not provided [RCV000893645] |
Chr4:118335648 [GRCh38]
Chr4:119256803 [GRCh37]
Chr4:4q26 |
benign|likely benign |
| NM_003619.4(PRSS12):c.1368A>G (p.Ser456=) |
single nucleotide variant |
not provided [RCV000975968] |
Chr4:118313322 [GRCh38]
Chr4:119234477 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV000784959] |
Chr4:118295815 [GRCh38]
Chr4:119216970 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*800G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146053] |
Chr4:118281136 [GRCh38]
Chr4:119202291 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1490-15T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146172] |
Chr4:118308592 [GRCh38]
Chr4:119229747 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*263A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001148959] |
Chr4:118281673 [GRCh38]
Chr4:119202828 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2568T>A (p.Pro856=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001148960] |
Chr4:118281996 [GRCh38]
Chr4:119203151 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1141T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150356] |
Chr4:118280795 [GRCh38]
Chr4:119201950 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150470]|not specified [RCV004032785] |
Chr4:118283002 [GRCh38]
Chr4:119204157 [GRCh37]
Chr4:4q26 |
uncertain significance |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787448] |
Chr4:116624547..126168646 [GRCh37]
Chr4:4q26-28.1 |
likely pathogenic |
| NM_003619.4(PRSS12):c.*1595A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001148824] |
Chr4:118280341 [GRCh38]
Chr4:119201496 [GRCh37]
Chr4:4q26 |
benign |
| NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150467] |
Chr4:118282061 [GRCh38]
Chr4:119203216 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1722G>A (p.Arg574=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146171] |
Chr4:118298848 [GRCh38]
Chr4:119220003 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs) |
duplication |
not provided [RCV001090889]|not specified [RCV003235466] |
Chr4:118313273..118313274 [GRCh38]
Chr4:119234428..119234429 [GRCh37]
Chr4:4q26 |
likely pathogenic|uncertain significance |
| NM_003619.4(PRSS12):c.718C>T (p.Arg240Ter) |
single nucleotide variant |
not specified [RCV003317844] |
Chr4:118335575 [GRCh38]
Chr4:119256730 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1499A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150352] |
Chr4:118280437 [GRCh38]
Chr4:119201592 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.890A>G (p.His297Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150580] |
Chr4:118331797 [GRCh38]
Chr4:119252952 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144379] |
Chr4:118283101 [GRCh38]
Chr4:119204256 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*604A>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146055] |
Chr4:118281332 [GRCh38]
Chr4:119202487 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*574A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146056] |
Chr4:118281362 [GRCh38]
Chr4:119202517 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146173] |
Chr4:118313309 [GRCh38]
Chr4:119234464 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.-10C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146302] |
Chr4:118352730 [GRCh38]
Chr4:119273885 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1630A>G (p.Lys544Glu) |
single nucleotide variant |
not specified [RCV004326390] |
Chr4:118308437 [GRCh38]
Chr4:119229592 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1397C>A (p.Ser466Tyr) |
single nucleotide variant |
not specified [RCV004310417] |
Chr4:118313293 [GRCh38]
Chr4:119234448 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1144C>T (p.Leu382=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001149078]|PRSS12-related condition [RCV003940707]|not provided [RCV000892211] |
Chr4:118318384 [GRCh38]
Chr4:119239539 [GRCh37]
Chr4:4q26 |
benign |
| NM_003619.4(PRSS12):c.876G>A (p.Arg292=) |
single nucleotide variant |
not provided [RCV000929938] |
Chr4:118331811 [GRCh38]
Chr4:119252966 [GRCh37]
Chr4:4q26 |
benign |
| NM_003619.4(PRSS12):c.2250T>C (p.Cys750=) |
single nucleotide variant |
not provided [RCV000931283] |
Chr4:118282901 [GRCh38]
Chr4:119204056 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.936C>G (p.Ala312=) |
single nucleotide variant |
not provided [RCV000916272] |
Chr4:118331751 [GRCh38]
Chr4:119252906 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.2073G>A (p.Arg691=) |
single nucleotide variant |
not provided [RCV000929994] |
Chr4:118283078 [GRCh38]
Chr4:119204233 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144384] |
Chr4:118295791 [GRCh38]
Chr4:119216946 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.195C>T (p.Phe65=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144495] |
Chr4:118352526 [GRCh38]
Chr4:119273681 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1577A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001148825] |
Chr4:118280359 [GRCh38]
Chr4:119201514 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001149081] |
Chr4:118331769 [GRCh38]
Chr4:119252924 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*906A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144266] |
Chr4:118281030 [GRCh38]
Chr4:119202185 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*849C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144268] |
Chr4:118281087 [GRCh38]
Chr4:119202242 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*839T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144269] |
Chr4:118281097 [GRCh38]
Chr4:119202252 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.966C>T (p.Gly322=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001149079]|not provided [RCV000911652] |
Chr4:118331721 [GRCh38]
Chr4:119252876 [GRCh37]
Chr4:4q26 |
benign|likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.*912G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144265] |
Chr4:118281024 [GRCh38]
Chr4:119202179 [GRCh37]
Chr4:4q26 |
benign |
| NM_003619.4(PRSS12):c.*1573G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150351] |
Chr4:118280363 [GRCh38]
Chr4:119201518 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*904A>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144267] |
Chr4:118281032 [GRCh38]
Chr4:119202187 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.821-12C>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150581] |
Chr4:118331878 [GRCh38]
Chr4:119253033 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.518G>A (p.Arg173His) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150584] |
Chr4:118338299 [GRCh38]
Chr4:119259454 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144494] |
Chr4:118352447 [GRCh38]
Chr4:119273602 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.177G>A (p.Pro59=) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144496] |
Chr4:118352544 [GRCh38]
Chr4:119273699 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1435A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150353] |
Chr4:118280501 [GRCh38]
Chr4:119201656 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1431C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150354] |
Chr4:118280505 [GRCh38]
Chr4:119201660 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150468] |
Chr4:118282972 [GRCh38]
Chr4:119204127 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1293-10A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146174] |
Chr4:118313407 [GRCh38]
Chr4:119234562 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144380] |
Chr4:118295003 [GRCh38]
Chr4:119216158 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1916+11C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144383] |
Chr4:118295767 [GRCh38]
Chr4:119216922 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144381] |
Chr4:118295004 [GRCh38]
Chr4:119216159 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1917-4T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144382] |
Chr4:118295065 [GRCh38]
Chr4:119216220 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001144493] |
Chr4:118352356 [GRCh38]
Chr4:119273511 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*658C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001146054] |
Chr4:118281278 [GRCh38]
Chr4:119202433 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*1143C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150355] |
Chr4:118280793 [GRCh38]
Chr4:119201948 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.*950A>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150357] |
Chr4:118280986 [GRCh38]
Chr4:119202141 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150469] |
Chr4:118282978 [GRCh38]
Chr4:119204133 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150579] |
Chr4:118331771 [GRCh38]
Chr4:119252926 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001150583] |
Chr4:118338293 [GRCh38]
Chr4:119259448 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q26(chr4:119130975-119516973)x3 |
copy number gain |
not provided [RCV001259307] |
Chr4:119130975..119516973 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001331085] |
Chr4:118352600 [GRCh38]
Chr4:119273755 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) |
copy number loss |
Atypical behavior [RCV001352657] |
Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2 |
pathogenic |
| NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001333142]|PRSS12-related condition [RCV003963222] |
Chr4:118316236 [GRCh38]
Chr4:119237391 [GRCh37]
Chr4:4q26 |
likely benign|uncertain significance |
| NM_003619.4(PRSS12):c.2257C>G (p.Leu753Val) |
single nucleotide variant |
Mental retardation, autosomal recessive 1 [RCV001331087] |
Chr4:118282894 [GRCh38]
Chr4:119204049 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2040-1G>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001331086] |
Chr4:118283112 [GRCh38]
Chr4:119204267 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV001331088]|not specified [RCV004035710] |
Chr4:118352486 [GRCh38]
Chr4:119273641 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.669G>T (p.Pro223=) |
single nucleotide variant |
not provided [RCV001531411] |
Chr4:118335624 [GRCh38]
Chr4:119256779 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1435G>A (p.Glu479Lys) |
single nucleotide variant |
not provided [RCV001728158]|not specified [RCV004040015] |
Chr4:118313255 [GRCh38]
Chr4:119234410 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 |
copy number loss |
not provided [RCV001795851] |
Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3 |
pathogenic |
| NM_003619.4(PRSS12):c.821-1G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV002482353]|not specified [RCV001817150] |
Chr4:118331867 [GRCh38]
Chr4:119253022 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.192_193dup (p.Phe65fs) |
duplication |
not specified [RCV001817701] |
Chr4:118352527..118352528 [GRCh38]
Chr4:119273682..119273683 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2588C>T (p.Ser863Leu) |
single nucleotide variant |
not specified [RCV001817172] |
Chr4:118281976 [GRCh38]
Chr4:119203131 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2146C>T (p.Arg716Trp) |
single nucleotide variant |
not specified [RCV001817531] |
Chr4:118283005 [GRCh38]
Chr4:119204160 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.537T>C (p.Phe179=) |
single nucleotide variant |
not specified [RCV001817593] |
Chr4:118338280 [GRCh38]
Chr4:119259435 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.2415A>C (p.Arg805Ser) |
single nucleotide variant |
not specified [RCV001819483] |
Chr4:118282149 [GRCh38]
Chr4:119203304 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) |
copy number gain |
not specified [RCV002053446] |
Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21 |
pathogenic |
| GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) |
copy number loss |
not specified [RCV002053451] |
Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2 |
pathogenic |
| GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 |
copy number gain |
not provided [RCV001827738] |
Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21 |
pathogenic |
| NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) |
deletion |
Intellectual disability, autosomal recessive 1 [RCV002221895] |
|
likely pathogenic |
| NM_003619.4(PRSS12):c.2613T>C (p.Ser871=) |
single nucleotide variant |
not specified [RCV004062939] |
Chr4:118281951 [GRCh38]
Chr4:119203106 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.2502C>T (p.Pro834=) |
single nucleotide variant |
not specified [RCV004062028] |
Chr4:118282062 [GRCh38]
Chr4:119203217 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.419G>C (p.Ser140Thr) |
single nucleotide variant |
not specified [RCV004113660] |
Chr4:118352302 [GRCh38]
Chr4:119273457 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.142C>A (p.Pro48Thr) |
single nucleotide variant |
not specified [RCV004143304] |
Chr4:118352579 [GRCh38]
Chr4:119273734 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1286G>A (p.Gly429Glu) |
single nucleotide variant |
not specified [RCV004136739] |
Chr4:118316188 [GRCh38]
Chr4:119237343 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.913T>C (p.Cys305Arg) |
single nucleotide variant |
not specified [RCV004134281] |
Chr4:118331774 [GRCh38]
Chr4:119252929 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1919G>C (p.Gly640Ala) |
single nucleotide variant |
not specified [RCV004217029] |
Chr4:118295059 [GRCh38]
Chr4:119216214 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1697A>C (p.Asn566Thr) |
single nucleotide variant |
not specified [RCV004144290] |
Chr4:118298873 [GRCh38]
Chr4:119220028 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.925T>C (p.Trp309Arg) |
single nucleotide variant |
not specified [RCV004180194] |
Chr4:118331762 [GRCh38]
Chr4:119252917 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.595T>G (p.Trp199Gly) |
single nucleotide variant |
not specified [RCV004233472] |
Chr4:118338222 [GRCh38]
Chr4:119259377 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2020G>T (p.Ala674Ser) |
single nucleotide variant |
not specified [RCV004225218] |
Chr4:118294958 [GRCh38]
Chr4:119216113 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1432C>T (p.Arg478Cys) |
single nucleotide variant |
not specified [RCV004172586] |
Chr4:118313258 [GRCh38]
Chr4:119234413 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.450C>A (p.Phe150Leu) |
single nucleotide variant |
not specified [RCV003479487] |
Chr4:118352271 [GRCh38]
Chr4:119273426 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2595T>G (p.Phe865Leu) |
single nucleotide variant |
not specified [RCV004172536] |
Chr4:118281969 [GRCh38]
Chr4:119203124 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2050A>C (p.Ser684Arg) |
single nucleotide variant |
not specified [RCV004180331] |
Chr4:118283101 [GRCh38]
Chr4:119204256 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2401C>T (p.Arg801Trp) |
single nucleotide variant |
not specified [RCV004169977] |
Chr4:118282163 [GRCh38]
Chr4:119203318 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.332G>T (p.Arg111Leu) |
single nucleotide variant |
not specified [RCV004195480] |
Chr4:118352389 [GRCh38]
Chr4:119273544 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1634G>T (p.Gly545Val) |
single nucleotide variant |
not specified [RCV004127429] |
Chr4:118298936 [GRCh38]
Chr4:119220091 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2534C>T (p.Ser845Phe) |
single nucleotide variant |
not specified [RCV004180413] |
Chr4:118282030 [GRCh38]
Chr4:119203185 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.713G>A (p.Arg238His) |
single nucleotide variant |
not specified [RCV004094378] |
Chr4:118335580 [GRCh38]
Chr4:119256735 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2116G>T (p.Glu706Ter) |
single nucleotide variant |
not specified [RCV003155875] |
Chr4:118283035 [GRCh38]
Chr4:119204190 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV003228761] |
Chr4:118308566 [GRCh38]
Chr4:119229721 [GRCh37]
Chr4:4q26 |
likely pathogenic |
| NM_003619.4(PRSS12):c.2492G>T (p.Cys831Phe) |
single nucleotide variant |
not specified [RCV004269922] |
Chr4:118282072 [GRCh38]
Chr4:119203227 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2108T>G (p.Phe703Cys) |
single nucleotide variant |
not specified [RCV004268029] |
Chr4:118283043 [GRCh38]
Chr4:119204198 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs) |
indel |
Intellectual disability, autosomal recessive 1 [RCV003135151] |
Chr4:118282877..118282883 [GRCh38]
Chr4:119204032..119204038 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV003135152] |
Chr4:118295060 [GRCh38]
Chr4:119216215 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.73C>G (p.Leu25Val) |
single nucleotide variant |
not specified [RCV004268305] |
Chr4:118352648 [GRCh38]
Chr4:119273803 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2164C>T (p.Arg722Cys) |
single nucleotide variant |
not specified [RCV004264519] |
Chr4:118282987 [GRCh38]
Chr4:119204142 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV003225604]|not specified [RCV004285607] |
Chr4:118352362 [GRCh38]
Chr4:119273517 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.826A>G (p.Thr276Ala) |
single nucleotide variant |
not specified [RCV004323265] |
Chr4:118331861 [GRCh38]
Chr4:119253016 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.2450G>A (p.Arg817His) |
single nucleotide variant |
not specified [RCV004328234] |
Chr4:118282114 [GRCh38]
Chr4:119203269 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.113C>T (p.Pro38Leu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV003330252] |
Chr4:118352608 [GRCh38]
Chr4:119273763 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.591C>A (p.Ser197Arg) |
single nucleotide variant |
not specified [RCV004350627] |
Chr4:118338226 [GRCh38]
Chr4:119259381 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2552G>T (p.Gly851Val) |
single nucleotide variant |
not specified [RCV004338673] |
Chr4:118282012 [GRCh38]
Chr4:119203167 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1615C>A (p.Arg539Ser) |
single nucleotide variant |
not specified [RCV004352773] |
Chr4:118308452 [GRCh38]
Chr4:119229607 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2525G>A (p.Gly842Glu) |
single nucleotide variant |
not specified [RCV004347948] |
Chr4:118282039 [GRCh38]
Chr4:119203194 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2236G>A (p.Val746Ile) |
single nucleotide variant |
not specified [RCV004355710] |
Chr4:118282915 [GRCh38]
Chr4:119204070 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2527G>A (p.Val843Met) |
single nucleotide variant |
not specified [RCV004347065] |
Chr4:118282037 [GRCh38]
Chr4:119203192 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.818A>G (p.His273Arg) |
single nucleotide variant |
not specified [RCV004335777] |
Chr4:118335475 [GRCh38]
Chr4:119256630 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1843C>T (p.Leu615Phe) |
single nucleotide variant |
not specified [RCV003479912] |
Chr4:118295851 [GRCh38]
Chr4:119217006 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 |
copy number gain |
not provided [RCV003484198] |
Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3 |
pathogenic |
| NM_003619.4(PRSS12):c.1888C>T (p.Arg630Trp) |
single nucleotide variant |
not specified [RCV003479772] |
Chr4:118295806 [GRCh38]
Chr4:119216961 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1917-1G>C |
single nucleotide variant |
not specified [RCV003404950] |
Chr4:118295062 [GRCh38]
Chr4:119216217 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 1 [RCV003486210] |
Chr4:118313288 [GRCh38]
Chr4:119234443 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.19G>C (p.Val7Leu) |
single nucleotide variant |
not specified [RCV004510618] |
Chr4:118352702 [GRCh38]
Chr4:119273857 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2390G>A (p.Arg797His) |
single nucleotide variant |
not specified [RCV004510623] |
Chr4:118282174 [GRCh38]
Chr4:119203329 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.340G>A (p.Glu114Lys) |
single nucleotide variant |
not specified [RCV004510626] |
Chr4:118352381 [GRCh38]
Chr4:119273536 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.940G>T (p.Ala314Ser) |
single nucleotide variant |
not specified [RCV004510630] |
Chr4:118331747 [GRCh38]
Chr4:119252902 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.986C>T (p.Ala329Val) |
single nucleotide variant |
not specified [RCV004510631] |
Chr4:118318542 [GRCh38]
Chr4:119239697 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1139C>T (p.Thr380Ile) |
single nucleotide variant |
not specified [RCV004510615] |
Chr4:118318389 [GRCh38]
Chr4:119239544 [GRCh37]
Chr4:4q26 |
uncertain significance |
| GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 |
copy number gain |
not specified [RCV003986496] |
Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2 |
pathogenic |
| NM_003619.4(PRSS12):c.2069T>A (p.Val690Asp) |
single nucleotide variant |
not specified [RCV004510619] |
Chr4:118283082 [GRCh38]
Chr4:119204237 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2098C>T (p.Pro700Ser) |
single nucleotide variant |
not specified [RCV004510621] |
Chr4:118283053 [GRCh38]
Chr4:119204208 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.874C>T (p.Arg292Trp) |
single nucleotide variant |
not specified [RCV004510629] |
Chr4:118331813 [GRCh38]
Chr4:119252968 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1987G>T (p.Ala663Ser) |
single nucleotide variant |
not specified [RCV004510616] |
Chr4:118294991 [GRCh38]
Chr4:119216146 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.1356C>T (p.Asp452=) |
single nucleotide variant |
PRSS12-related condition [RCV003977208] |
Chr4:118313334 [GRCh38]
Chr4:119234489 [GRCh37]
Chr4:4q26 |
likely benign |
| GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2 |
pathogenic |
| NM_003619.4(PRSS12):c.206C>T (p.Pro69Leu) |
single nucleotide variant |
not specified [RCV004510620] |
Chr4:118352515 [GRCh38]
Chr4:119273670 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2497C>T (p.Arg833Trp) |
single nucleotide variant |
not specified [RCV004510625] |
Chr4:118282067 [GRCh38]
Chr4:119203222 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.557A>G (p.Tyr186Cys) |
single nucleotide variant |
not specified [RCV004510628] |
Chr4:118338260 [GRCh38]
Chr4:119259415 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.180G>C (p.Pro60=) |
single nucleotide variant |
PRSS12-related condition [RCV003927400] |
Chr4:118352541 [GRCh38]
Chr4:119273696 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.2483C>T (p.Pro828Leu) |
single nucleotide variant |
not specified [RCV004510624] |
Chr4:118282081 [GRCh38]
Chr4:119203236 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.368C>T (p.Pro123Leu) |
single nucleotide variant |
not specified [RCV004510627] |
Chr4:118352353 [GRCh38]
Chr4:119273508 [GRCh37]
Chr4:4q26 |
uncertain significance |
| NM_003619.4(PRSS12):c.2127T>A (p.Val709=) |
single nucleotide variant |
not provided [RCV003884306] |
Chr4:118283024 [GRCh38]
Chr4:119204179 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1266C>T (p.Tyr422=) |
single nucleotide variant |
PRSS12-related condition [RCV003957000] |
Chr4:118316208 [GRCh38]
Chr4:119237363 [GRCh37]
Chr4:4q26 |
likely benign |
| NM_003619.4(PRSS12):c.1278A>G (p.Arg426=) |
single nucleotide variant |
PRSS12-related condition [RCV003912089] |
Chr4:118316196 [GRCh38]
Chr4:119237351 [GRCh37]
Chr4:4q26 |
likely benign |
