| 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 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 4q22.1-24(chr4:92610413-101521991)x1 |
copy number loss |
See cases [RCV000140412] |
Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24 |
pathogenic |
| GRCh38/hg38 4q24(chr4:100579010-101522050)x1 |
copy number loss |
See cases [RCV000140237] |
Chr4:100579010..101522050 [GRCh38]
Chr4:101500167..102443207 [GRCh37]
Chr4:101719190..102662230 [NCBI36]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) |
duplication |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000625968] |
Chr4:101032294..101032295 [GRCh38]
Chr4:101953451..101953452 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1255_1256del (p.Ser419fs) |
microsatellite |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000677432] |
Chr4:101032350..101032351 [GRCh38]
Chr4:101953507..101953508 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.1340-2A>G |
single nucleotide variant |
not provided [RCV000578819] |
Chr4:101029197 [GRCh38]
Chr4:101950354 [GRCh37]
Chr4:4q24 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4q24(chr4:102236913-102375456)x1 |
copy number loss |
See cases [RCV000446511] |
Chr4:102236913..102375456 [GRCh37]
Chr4:4q24 |
likely benign |
| 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 |
| GRCh37/hg19 4q24(chr4:101871042-101986204)x1 |
copy number loss |
See cases [RCV000446711] |
Chr4:101871042..101986204 [GRCh37]
Chr4:4q24 |
uncertain significance |
| GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 |
copy number loss |
See cases [RCV000445741] |
Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24 |
pathogenic |
| 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_000944.5(PPP3CA):c.843C>G (p.His281Gln) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000509768] |
Chr4:101083203 [GRCh38]
Chr4:102004360 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000509789] |
Chr4:101032273 [GRCh38]
Chr4:101953430 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000509875]|Inborn genetic diseases [RCV001267106]|Seizure [RCV001027515] |
Chr4:101109063 [GRCh38]
Chr4:102030220 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000509989]|Inborn genetic diseases [RCV000624048]|not provided [RCV002269282] |
Chr4:101083202 [GRCh38]
Chr4:102004359 [GRCh37]
Chr4:4q24 |
pathogenic|likely pathogenic |
| NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000510091]|not provided [RCV001865669] |
Chr4:101032267 [GRCh38]
Chr4:101953424 [GRCh37]
Chr4:4q24 |
pathogenic|uncertain significance |
| 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 |
| GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 |
copy number loss |
See cases [RCV000511194] |
Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24 |
pathogenic |
| 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 |
| NM_000944.5(PPP3CA):c.-108GCG[10] |
microsatellite |
not provided [RCV001643877] |
Chr4:101346877..101346878 [GRCh38]
Chr4:102268034..102268035 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1417G>A (p.Ala473Thr) |
single nucleotide variant |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [RCV000735834]|not provided [RCV002536544] |
Chr4:101026014 [GRCh38]
Chr4:101947171 [GRCh37]
Chr4:4q24 |
pathogenic|likely pathogenic |
| NM_000944.5(PPP3CA):c.1290dup (p.Met431fs) |
duplication |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000735832] |
Chr4:101032315..101032316 [GRCh38]
Chr4:101953472..101953473 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1408T>C (p.Phe470Leu) |
single nucleotide variant |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [RCV000735833] |
Chr4:101026023 [GRCh38]
Chr4:101947180 [GRCh37]
Chr4:4q24 |
pathogenic |
| GRCh37/hg19 4q24(chr4:101959144-101960878)x1 |
copy number loss |
not provided [RCV000743873] |
Chr4:101959144..101960878 [GRCh37]
Chr4:4q24 |
benign |
| GRCh37/hg19 4q24(chr4:101960259-101965295)x1 |
copy number loss |
not provided [RCV000743874] |
Chr4:101960259..101965295 [GRCh37]
Chr4:4q24 |
benign |
| 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_000944.5(PPP3CA):c.1339+102G>A |
single nucleotide variant |
not provided [RCV001646077] |
Chr4:101032165 [GRCh38]
Chr4:101953322 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.782+14A>C |
single nucleotide variant |
not provided [RCV001691674] |
Chr4:101093762 [GRCh38]
Chr4:102014919 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.91G>T (p.Ala31Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002570793]|not provided [RCV001572949] |
Chr4:101196084 [GRCh38]
Chr4:102117241 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1271_1274dup (p.Leu426fs) |
duplication |
not provided [RCV000762100] |
Chr4:101032331..101032332 [GRCh38]
Chr4:101953488..101953489 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| GRCh37/hg19 4q24(chr4:101953182-102026137)x1 |
copy number loss |
See cases [RCV000790576] |
Chr4:101953182..102026137 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.22G>T (p.Asp8Tyr) |
single nucleotide variant |
not provided [RCV001090878] |
Chr4:101346775 [GRCh38]
Chr4:102267932 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002479003]|not provided [RCV000883170] |
Chr4:101026045 [GRCh38]
Chr4:101947202 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1095G>C (p.Leu365=) |
single nucleotide variant |
not provided [RCV000948281] |
Chr4:101061148 [GRCh38]
Chr4:101982305 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.144G>A (p.Ala48=) |
single nucleotide variant |
not provided [RCV000961560] |
Chr4:101196031 [GRCh38]
Chr4:102117188 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs) |
deletion |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV000987459] |
Chr4:101032291..101032295 [GRCh38]
Chr4:101953448..101953452 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1394del (p.His465fs) |
deletion |
not provided [RCV001008246] |
Chr4:101026037 [GRCh38]
Chr4:101947194 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs) |
duplication |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [RCV002283526]|Epileptic encephalopathy, infantile or early childhood, 1 [RCV001198048]|not provided [RCV002512144] |
Chr4:101032322..101032323 [GRCh38]
Chr4:101953479..101953480 [GRCh37]
Chr4:4q24 |
pathogenic|likely pathogenic |
| NC_000004.11:g.(?_102001669)_(103806607_?)del |
deletion |
not provided [RCV003105379] |
Chr4:102001669..103806607 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs) |
duplication |
Autism spectrum disorder [RCV003128041] |
Chr4:101025893..101025894 [GRCh38]
Chr4:101947050..101947051 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1340-178_1340-159del |
deletion |
not provided [RCV001618020] |
Chr4:101029354..101029373 [GRCh38]
Chr4:101950511..101950530 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.*44del |
deletion |
not provided [RCV001713901] |
Chr4:101025821 [GRCh38]
Chr4:101946978 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.497-191C>T |
single nucleotide variant |
not provided [RCV001687601] |
Chr4:101098703 [GRCh38]
Chr4:102019860 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.*43_*44del |
deletion |
not provided [RCV001681993] |
Chr4:101025821..101025822 [GRCh38]
Chr4:101946978..101946979 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.385-45G>A |
single nucleotide variant |
not provided [RCV001618847] |
Chr4:101099767 [GRCh38]
Chr4:102020924 [GRCh37]
Chr4:4q24 |
benign |
| NC_000004.11:g.(?_101947022)_(106061534_?)del |
deletion |
not provided [RCV003107794] |
Chr4:101947022..106061534 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1340-184T>G |
single nucleotide variant |
not provided [RCV001609298] |
Chr4:101029379 [GRCh38]
Chr4:101950536 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1156+7G>T |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002502983]|not provided [RCV000957570] |
Chr4:101061080 [GRCh38]
Chr4:101982237 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.-108GCG[11] |
microsatellite |
not provided [RCV001637634] |
Chr4:101346877..101346878 [GRCh38]
Chr4:102268034..102268035 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1292T>C (p.Met431Thr) |
single nucleotide variant |
not provided [RCV001553508] |
Chr4:101032314 [GRCh38]
Chr4:101953471 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.384+228C>T |
single nucleotide variant |
not provided [RCV001596262] |
Chr4:101108726 [GRCh38]
Chr4:102029883 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.59-50T>C |
single nucleotide variant |
not provided [RCV001596593] |
Chr4:101196166 [GRCh38]
Chr4:102117323 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.*74A>G |
single nucleotide variant |
not provided [RCV001649629] |
Chr4:101025791 [GRCh38]
Chr4:101946948 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.*42_*44del |
deletion |
not provided [RCV001611939] |
Chr4:101025821..101025823 [GRCh38]
Chr4:101946978..101946980 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV001031007] |
Chr4:101025954 [GRCh38]
Chr4:101947111 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.1157-103del |
deletion |
not provided [RCV001696549] |
Chr4:101040669 [GRCh38]
Chr4:101961826 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1218G>A (p.Met406Ile) |
single nucleotide variant |
not provided [RCV001216094] |
Chr4:101040505 [GRCh38]
Chr4:101961662 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1370-8C>G |
single nucleotide variant |
not provided [RCV002280271] |
Chr4:101026069 [GRCh38]
Chr4:101947226 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs) |
deletion |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002280296] |
Chr4:101032354..101032355 [GRCh38]
Chr4:101953511..101953512 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.89C>T (p.Thr30Ile) |
single nucleotide variant |
not provided [RCV001312044] |
Chr4:101196086 [GRCh38]
Chr4:102117243 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1417G>T (p.Ala473Ser) |
single nucleotide variant |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [RCV001374728] |
Chr4:101026014 [GRCh38]
Chr4:101947171 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs) |
duplication |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV001374727] |
Chr4:101032306..101032307 [GRCh38]
Chr4:101953463..101953464 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.59-12350G>A |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV001542288] |
Chr4:101208466 [GRCh38]
Chr4:102129623 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.249G>A (p.Ala83=) |
single nucleotide variant |
not provided [RCV001714941] |
Chr4:101195926 [GRCh38]
Chr4:102117083 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.58+74T>C |
single nucleotide variant |
not provided [RCV001673367] |
Chr4:101346665 [GRCh38]
Chr4:102267822 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.58+75T>G |
single nucleotide variant |
not provided [RCV001652640] |
Chr4:101346664 [GRCh38]
Chr4:102267821 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.259+79C>T |
single nucleotide variant |
not provided [RCV001710624] |
Chr4:101195837 [GRCh38]
Chr4:102116994 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.58+74_58+78del |
deletion |
not provided [RCV001536302] |
Chr4:101346661..101346665 [GRCh38]
Chr4:102267818..102267822 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.579A>G (p.Gln193=) |
single nucleotide variant |
not provided [RCV001727294] |
Chr4:101098430 [GRCh38]
Chr4:102019587 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.20T>C (p.Ile7Thr) |
single nucleotide variant |
not provided [RCV001772693] |
Chr4:101346777 [GRCh38]
Chr4:102267934 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1194C>A (p.Asn398Lys) |
single nucleotide variant |
not provided [RCV001799874] |
Chr4:101040529 [GRCh38]
Chr4:101961686 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1480G>T (p.Ala494Ser) |
single nucleotide variant |
not provided [RCV002008702] |
Chr4:101025951 [GRCh38]
Chr4:101947108 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.179T>C (p.Val60Ala) |
single nucleotide variant |
not provided [RCV001874643] |
Chr4:101195996 [GRCh38]
Chr4:102117153 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1302C>T (p.Ser434=) |
single nucleotide variant |
not provided [RCV001949597] |
Chr4:101032304 [GRCh38]
Chr4:101953461 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.740A>G (p.His247Arg) |
single nucleotide variant |
not provided [RCV002045110] |
Chr4:101093818 [GRCh38]
Chr4:102014975 [GRCh37]
Chr4:4q24 |
uncertain significance |
| GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 |
copy number gain |
not provided [RCV001827745] |
Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.656A>G (p.Lys219Arg) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002506948]|not provided [RCV001914921] |
Chr4:101093902 [GRCh38]
Chr4:102015059 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1544G>A (p.Ser515Asn) |
single nucleotide variant |
Developmental disorder [RCV001843779] |
Chr4:101025887 [GRCh38]
Chr4:101947044 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002484882]|not provided [RCV001971185] |
Chr4:101025893 [GRCh38]
Chr4:101947050 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.98A>G (p.Glu33Gly) |
single nucleotide variant |
not provided [RCV001863379] |
Chr4:101196077 [GRCh38]
Chr4:102117234 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1489A>T (p.Asn497Tyr) |
single nucleotide variant |
not provided [RCV001948631] |
Chr4:101025942 [GRCh38]
Chr4:101947099 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1241+3G>T |
single nucleotide variant |
not provided [RCV002021941] |
Chr4:101040479 [GRCh38]
Chr4:101961636 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1529C>T (p.Thr510Met) |
single nucleotide variant |
not provided [RCV001982795] |
Chr4:101025902 [GRCh38]
Chr4:101947059 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NC_000004.11:g.(?_101947022)_(104640832_?)del |
deletion |
Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] |
Chr4:101947022..104640832 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.422C>G (p.Pro141Arg) |
single nucleotide variant |
not provided [RCV001892669] |
Chr4:101099685 [GRCh38]
Chr4:102020842 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.58+42297A>C |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV001839164] |
Chr4:101304442 [GRCh38]
Chr4:102225599 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.929A>T (p.Asn310Ile) |
single nucleotide variant |
not provided [RCV001871340] |
Chr4:101080558 [GRCh38]
Chr4:102001715 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.34_43del (p.Ser12fs) |
deletion |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV001843836] |
Chr4:101346754..101346763 [GRCh38]
Chr4:102267911..102267920 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.58+4A>G |
single nucleotide variant |
not provided [RCV001890810] |
Chr4:101346735 [GRCh38]
Chr4:102267892 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1354A>G (p.Ile452Val) |
single nucleotide variant |
not provided [RCV002007105] |
Chr4:101029181 [GRCh38]
Chr4:101950338 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1135T>G (p.Ser379Ala) |
single nucleotide variant |
not provided [RCV002006525] |
Chr4:101061108 [GRCh38]
Chr4:101982265 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.38C>T (p.Thr13Met) |
single nucleotide variant |
not provided [RCV002002271] |
Chr4:101346759 [GRCh38]
Chr4:102267916 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.524ATG[3] (p.Asp176dup) |
microsatellite |
not provided [RCV002005946] |
Chr4:101098479..101098480 [GRCh38]
Chr4:102019636..102019637 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.844G>C (p.Glu282Gln) |
single nucleotide variant |
not provided [RCV001947280] |
Chr4:101083202 [GRCh38]
Chr4:102004359 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.110A>C (p.Asn37Thr) |
single nucleotide variant |
not provided [RCV001908398] |
Chr4:101196065 [GRCh38]
Chr4:102117222 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.125G>A (p.Arg42His) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002484869]|not provided [RCV001969254] |
Chr4:101196050 [GRCh38]
Chr4:102117207 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.991A>G (p.Ile331Val) |
single nucleotide variant |
not provided [RCV001890688] |
Chr4:101063322 [GRCh38]
Chr4:101984479 [GRCh37]
Chr4:4q24 |
uncertain significance |
| 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_000944.5(PPP3CA):c.426A>G (p.Lys142=) |
single nucleotide variant |
not provided [RCV002003471] |
Chr4:101099681 [GRCh38]
Chr4:102020838 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.248C>T (p.Ala83Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002552189]|not provided [RCV001911937] |
Chr4:101195927 [GRCh38]
Chr4:102117084 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1156+4A>G |
single nucleotide variant |
not provided [RCV002043674] |
Chr4:101061083 [GRCh38]
Chr4:101982240 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1156+3A>G |
single nucleotide variant |
not provided [RCV001982131] |
Chr4:101061084 [GRCh38]
Chr4:101982241 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1492T>A (p.Ser498Thr) |
single nucleotide variant |
not provided [RCV001957141] |
Chr4:101025939 [GRCh38]
Chr4:101947096 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1251_1254del (p.Ser417fs) |
deletion |
not provided [RCV001944688] |
Chr4:101032352..101032355 [GRCh38]
Chr4:101953509..101953512 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.34T>C (p.Ser12Pro) |
single nucleotide variant |
not provided [RCV001963345] |
Chr4:101346763 [GRCh38]
Chr4:102267920 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.259+1G>T |
single nucleotide variant |
not provided [RCV002000449] |
Chr4:101195915 [GRCh38]
Chr4:102117072 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.1240A>G (p.Arg414Gly) |
single nucleotide variant |
not provided [RCV002036905] |
Chr4:101040483 [GRCh38]
Chr4:101961640 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.860+3G>A |
single nucleotide variant |
not provided [RCV001887273] |
Chr4:101083183 [GRCh38]
Chr4:102004340 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.702C>A (p.Asp234Glu) |
single nucleotide variant |
not provided [RCV001999846] |
Chr4:101093856 [GRCh38]
Chr4:102015013 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.228A>T (p.Lys76Asn) |
single nucleotide variant |
not provided [RCV001923275] |
Chr4:101195947 [GRCh38]
Chr4:102117104 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.520G>A (p.Val174Ile) |
single nucleotide variant |
not provided [RCV002014944] |
Chr4:101098489 [GRCh38]
Chr4:102019646 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1161A>G (p.Ala387=) |
single nucleotide variant |
not provided [RCV002001383] |
Chr4:101040562 [GRCh38]
Chr4:101961719 [GRCh37]
Chr4:4q24 |
likely benign|uncertain significance |
| NM_000944.5(PPP3CA):c.535A>G (p.Met179Val) |
single nucleotide variant |
not provided [RCV002037346] |
Chr4:101098474 [GRCh38]
Chr4:102019631 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1245A>C (p.Glu415Asp) |
single nucleotide variant |
not provided [RCV002014926] |
Chr4:101032361 [GRCh38]
Chr4:101953518 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002479707]|not provided [RCV001989638] |
Chr4:101025998 [GRCh38]
Chr4:101947155 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1395_1414del (p.His465fs) |
deletion |
not provided [RCV001974416] |
Chr4:101026017..101026036 [GRCh38]
Chr4:101947174..101947193 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.865C>T (p.Arg289Cys) |
single nucleotide variant |
not provided [RCV002010791] |
Chr4:101080622 [GRCh38]
Chr4:102001779 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.197C>G (p.Thr66Arg) |
single nucleotide variant |
not provided [RCV001898371] |
Chr4:101195978 [GRCh38]
Chr4:102117135 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1148G>T (p.Gly383Val) |
single nucleotide variant |
not provided [RCV001899684] |
Chr4:101061095 [GRCh38]
Chr4:101982252 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.86T>C (p.Leu29Pro) |
single nucleotide variant |
not provided [RCV002013732] |
Chr4:101196089 [GRCh38]
Chr4:102117246 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.829A>G (p.Ile277Val) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002490045]|not provided [RCV001867799] |
Chr4:101083217 [GRCh38]
Chr4:102004374 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1559T>G (p.Ile520Ser) |
single nucleotide variant |
not provided [RCV001878173] |
Chr4:101025872 [GRCh38]
Chr4:101947029 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.416T>A (p.Leu139His) |
single nucleotide variant |
not provided [RCV001869918] |
Chr4:101099691 [GRCh38]
Chr4:102020848 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.218G>A (p.Arg73Gln) |
single nucleotide variant |
not provided [RCV001865094] |
Chr4:101195957 [GRCh38]
Chr4:102117114 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1082-5T>G |
single nucleotide variant |
not provided [RCV001955455] |
Chr4:101061166 [GRCh38]
Chr4:101982323 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1288_1289insC (p.Gly430fs) |
insertion |
not provided [RCV001951936] |
Chr4:101032317..101032318 [GRCh38]
Chr4:101953474..101953475 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.606G>C (p.Leu202Phe) |
single nucleotide variant |
not provided [RCV002029714] |
Chr4:101098403 [GRCh38]
Chr4:102019560 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.799G>A (p.Glu267Lys) |
single nucleotide variant |
not provided [RCV001898718] |
Chr4:101083247 [GRCh38]
Chr4:102004404 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.82C>T (p.Arg28Trp) |
single nucleotide variant |
not provided [RCV001938035] |
Chr4:101196093 [GRCh38]
Chr4:102117250 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.241A>G (p.Ile81Val) |
single nucleotide variant |
not provided [RCV001998262] |
Chr4:101195934 [GRCh38]
Chr4:102117091 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.101T>G (p.Val34Gly) |
single nucleotide variant |
not provided [RCV001998326] |
Chr4:101196074 [GRCh38]
Chr4:102117231 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.314G>T (p.Gly105Val) |
single nucleotide variant |
not provided [RCV002016257] |
Chr4:101109024 [GRCh38]
Chr4:102030181 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.527A>T (p.Asp176Val) |
single nucleotide variant |
not provided [RCV001971965] |
Chr4:101098482 [GRCh38]
Chr4:102019639 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002497958]|Inborn genetic diseases [RCV002579604]|not provided [RCV002028135] |
Chr4:101032341 [GRCh38]
Chr4:101953498 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NC_000004.11:g.(?_101947022)_(102030255_?)dup |
duplication |
not provided [RCV002014369] |
Chr4:101947022..102030255 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.109A>G (p.Asn37Asp) |
single nucleotide variant |
not provided [RCV001920561] |
Chr4:101196066 [GRCh38]
Chr4:102117223 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1339+10C>T |
single nucleotide variant |
not provided [RCV001921570] |
Chr4:101032257 [GRCh38]
Chr4:101953414 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1082-9T>A |
single nucleotide variant |
not provided [RCV001977818] |
Chr4:101061170 [GRCh38]
Chr4:101982327 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.497-20C>G |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002487001]|not provided [RCV002210807] |
Chr4:101098532 [GRCh38]
Chr4:102019689 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.462A>G (p.Arg154=) |
single nucleotide variant |
not provided [RCV002169572] |
Chr4:101099645 [GRCh38]
Chr4:102020802 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.138A>G (p.Leu46=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002498237]|not provided [RCV002207701] |
Chr4:101196037 [GRCh38]
Chr4:102117194 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1340-15C>T |
single nucleotide variant |
not provided [RCV002128621] |
Chr4:101029210 [GRCh38]
Chr4:101950367 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.496+11T>C |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002498142]|not provided [RCV002165594] |
Chr4:101099600 [GRCh38]
Chr4:102020757 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1473C>G (p.Pro491=) |
single nucleotide variant |
not provided [RCV002089278] |
Chr4:101025958 [GRCh38]
Chr4:101947115 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.144G>T (p.Ala48=) |
single nucleotide variant |
not provided [RCV002191355] |
Chr4:101196031 [GRCh38]
Chr4:102117188 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.861-14T>A |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002498220]|not provided [RCV002209667] |
Chr4:101080640 [GRCh38]
Chr4:102001797 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.496+15A>G |
single nucleotide variant |
not provided [RCV002130688] |
Chr4:101099596 [GRCh38]
Chr4:102020753 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.204T>C (p.Gly68=) |
single nucleotide variant |
not provided [RCV002107036] |
Chr4:101195971 [GRCh38]
Chr4:102117128 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.783-7del |
deletion |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002507867]|not provided [RCV002169850] |
Chr4:101083270 [GRCh38]
Chr4:102004427 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.588G>A (p.Leu196=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002494285]|not provided [RCV002124698] |
Chr4:101098421 [GRCh38]
Chr4:102019578 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1156+20G>C |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002494286]|not provided [RCV002124716] |
Chr4:101061067 [GRCh38]
Chr4:101982224 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1369+15C>A |
single nucleotide variant |
not provided [RCV002129127] |
Chr4:101029151 [GRCh38]
Chr4:101950308 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.270C>T (p.Asp90=) |
single nucleotide variant |
not provided [RCV002109276] |
Chr4:101109068 [GRCh38]
Chr4:102030225 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.417C>G (p.Leu139=) |
single nucleotide variant |
not provided [RCV002074525] |
Chr4:101099690 [GRCh38]
Chr4:102020847 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.843C>T (p.His281=) |
single nucleotide variant |
not provided [RCV002125176] |
Chr4:101083203 [GRCh38]
Chr4:102004360 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.468A>G (p.Leu156=) |
single nucleotide variant |
not provided [RCV002165685] |
Chr4:101099639 [GRCh38]
Chr4:102020796 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1241+17T>C |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002500298]|not provided [RCV002148366] |
Chr4:101040465 [GRCh38]
Chr4:101961622 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.519C>T (p.Arg173=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002507847]|not provided [RCV002089865] |
Chr4:101098490 [GRCh38]
Chr4:102019647 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.207A>G (p.Ala69=) |
single nucleotide variant |
not provided [RCV002208231] |
Chr4:101195968 [GRCh38]
Chr4:102117125 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1369+13G>C |
single nucleotide variant |
not provided [RCV002169760] |
Chr4:101029153 [GRCh38]
Chr4:101950310 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.450T>C (p.Asn150=) |
single nucleotide variant |
not provided [RCV002209811] |
Chr4:101099657 [GRCh38]
Chr4:102020814 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.834C>A (p.Leu278=) |
single nucleotide variant |
not provided [RCV002146592] |
Chr4:101083212 [GRCh38]
Chr4:102004369 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.384+9A>G |
single nucleotide variant |
not provided [RCV002093163] |
Chr4:101108945 [GRCh38]
Chr4:102030102 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.260-20A>T |
single nucleotide variant |
not provided [RCV002195024] |
Chr4:101109098 [GRCh38]
Chr4:102030255 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.517C>T (p.Arg173Cys) |
single nucleotide variant |
not provided [RCV002094994] |
Chr4:101098492 [GRCh38]
Chr4:102019649 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.750C>T (p.His250=) |
single nucleotide variant |
not provided [RCV002076515] |
Chr4:101093808 [GRCh38]
Chr4:102014965 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.345C>T (p.Phe115=) |
single nucleotide variant |
not provided [RCV002212277] |
Chr4:101108993 [GRCh38]
Chr4:102030150 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.558C>A (p.Pro186=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002486884]|not provided [RCV002107897] |
Chr4:101098451 [GRCh38]
Chr4:102019608 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.782+8T>C |
single nucleotide variant |
not provided [RCV002078660] |
Chr4:101093768 [GRCh38]
Chr4:102014925 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.58+16C>T |
single nucleotide variant |
not provided [RCV002194332] |
Chr4:101346723 [GRCh38]
Chr4:102267880 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.955+18C>A |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002486907]|not provided [RCV002130104] |
Chr4:101080514 [GRCh38]
Chr4:102001671 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.444T>C (p.Arg148=) |
single nucleotide variant |
not provided [RCV002194097] |
Chr4:101099663 [GRCh38]
Chr4:102020820 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1038C>T (p.Phe346=) |
single nucleotide variant |
not provided [RCV002079402] |
Chr4:101063275 [GRCh38]
Chr4:101984432 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.87T>A (p.Leu29=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002508078]|not provided [RCV002114561] |
Chr4:101196088 [GRCh38]
Chr4:102117245 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.384+14A>G |
single nucleotide variant |
not provided [RCV002196568] |
Chr4:101108940 [GRCh38]
Chr4:102030097 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.497-5A>G |
single nucleotide variant |
not provided [RCV002092560] |
Chr4:101098517 [GRCh38]
Chr4:102019674 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1241+12C>T |
single nucleotide variant |
not provided [RCV002077013] |
Chr4:101040470 [GRCh38]
Chr4:101961627 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1479C>T (p.Asp493=) |
single nucleotide variant |
not provided [RCV002093554] |
Chr4:101025952 [GRCh38]
Chr4:101947109 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.783-6T>C |
single nucleotide variant |
not provided [RCV002172247] |
Chr4:101083269 [GRCh38]
Chr4:102004426 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1339+13_1339+15dup |
duplication |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002494273]|not provided [RCV002115786] |
Chr4:101032251..101032252 [GRCh38]
Chr4:101953408..101953409 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.760A>G (p.Arg254Gly) |
single nucleotide variant |
not provided [RCV002214320] |
Chr4:101093798 [GRCh38]
Chr4:102014955 [GRCh37]
Chr4:4q24 |
likely pathogenic|uncertain significance |
| NM_000944.5(PPP3CA):c.1410C>T (p.Phe470=) |
single nucleotide variant |
not provided [RCV002170646] |
Chr4:101026021 [GRCh38]
Chr4:101947178 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.643-9T>A |
single nucleotide variant |
not provided [RCV002193159] |
Chr4:101093924 [GRCh38]
Chr4:102015081 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002500117]|not provided [RCV002076551] |
Chr4:101026003 [GRCh38]
Chr4:101947160 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.291T>C (p.Asp97=) |
single nucleotide variant |
not provided [RCV002133367] |
Chr4:101109047 [GRCh38]
Chr4:102030204 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1241+13G>A |
single nucleotide variant |
not provided [RCV002149550] |
Chr4:101040469 [GRCh38]
Chr4:101961626 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.518G>A (p.Arg173His) |
single nucleotide variant |
not provided [RCV002170007] |
Chr4:101098491 [GRCh38]
Chr4:102019648 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1156+15C>G |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002486957]|not provided [RCV002150828] |
Chr4:101061072 [GRCh38]
Chr4:101982229 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1157-18C>T |
single nucleotide variant |
not provided [RCV002101539] |
Chr4:101040584 [GRCh38]
Chr4:101961741 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.897C>T (p.Phe299=) |
single nucleotide variant |
not provided [RCV002177956] |
Chr4:101080590 [GRCh38]
Chr4:102001747 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.369G>T (p.Gly123=) |
single nucleotide variant |
not provided [RCV002158366] |
Chr4:101108969 [GRCh38]
Chr4:102030126 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.384+18C>T |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002507926]|not provided [RCV002219606] |
Chr4:101108936 [GRCh38]
Chr4:102030093 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1227G>C (p.Val409=) |
single nucleotide variant |
not provided [RCV002135401] |
Chr4:101040496 [GRCh38]
Chr4:101961653 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.782+7A>G |
single nucleotide variant |
not provided [RCV002220376] |
Chr4:101093769 [GRCh38]
Chr4:102014926 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.955+18C>T |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002496104]|not provided [RCV002179215] |
Chr4:101080514 [GRCh38]
Chr4:102001671 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.168G>A (p.Leu56=) |
single nucleotide variant |
not provided [RCV002098411] |
Chr4:101196007 [GRCh38]
Chr4:102117164 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002494090]|not provided [RCV002202361] |
Chr4:101026006 [GRCh38]
Chr4:101947163 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.1260G>A (p.Val420=) |
single nucleotide variant |
not provided [RCV002143500] |
Chr4:101032346 [GRCh38]
Chr4:101953503 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.243T>C (p.Ile81=) |
single nucleotide variant |
not provided [RCV002118335] |
Chr4:101195932 [GRCh38]
Chr4:102117089 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.860+18T>C |
single nucleotide variant |
not provided [RCV002219373] |
Chr4:101083168 [GRCh38]
Chr4:102004325 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.643-9T>G |
single nucleotide variant |
not provided [RCV002122302] |
Chr4:101093924 [GRCh38]
Chr4:102015081 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.385-5C>T |
single nucleotide variant |
not provided [RCV002162628] |
Chr4:101099727 [GRCh38]
Chr4:102020884 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1338C>T (p.Ser446=) |
single nucleotide variant |
not provided [RCV002100036] |
Chr4:101032268 [GRCh38]
Chr4:101953425 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.783-4G>A |
single nucleotide variant |
not provided [RCV002101830] |
Chr4:101083267 [GRCh38]
Chr4:102004424 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.497-10C>T |
single nucleotide variant |
not provided [RCV002177387] |
Chr4:101098522 [GRCh38]
Chr4:102019679 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1530G>A (p.Thr510=) |
single nucleotide variant |
not provided [RCV002119897] |
Chr4:101025901 [GRCh38]
Chr4:101947058 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1524C>T (p.Asn508=) |
single nucleotide variant |
not provided [RCV002082220] |
Chr4:101025907 [GRCh38]
Chr4:101947064 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.385-20A>T |
single nucleotide variant |
not provided [RCV002198790] |
Chr4:101099742 [GRCh38]
Chr4:102020899 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.312C>T (p.Val104=) |
single nucleotide variant |
not provided [RCV002219703] |
Chr4:101109026 [GRCh38]
Chr4:102030183 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.483A>G (p.Thr161=) |
single nucleotide variant |
not provided [RCV002160517] |
Chr4:101099624 [GRCh38]
Chr4:102020781 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.981T>C (p.Asn327=) |
single nucleotide variant |
not provided [RCV002153902] |
Chr4:101063332 [GRCh38]
Chr4:101984489 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1156+20G>T |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002500048]|not provided [RCV002118137] |
Chr4:101061067 [GRCh38]
Chr4:101982224 [GRCh37]
Chr4:4q24 |
benign|likely benign |
| NM_000944.5(PPP3CA):c.260-7C>G |
single nucleotide variant |
not provided [RCV002178019] |
Chr4:101109085 [GRCh38]
Chr4:102030242 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.955+7G>A |
single nucleotide variant |
not provided [RCV002162597] |
Chr4:101080525 [GRCh38]
Chr4:102001682 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1370-8C>T |
single nucleotide variant |
not provided [RCV002158808] |
Chr4:101026069 [GRCh38]
Chr4:101947226 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002494471]|not provided [RCV002163220] |
Chr4:101026042 [GRCh38]
Chr4:101947199 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1452G>A (p.Pro484=) |
single nucleotide variant |
not provided [RCV002157668] |
Chr4:101025979 [GRCh38]
Chr4:101947136 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.9G>T (p.Glu3Asp) |
single nucleotide variant |
not provided [RCV003115885] |
Chr4:101346788 [GRCh38]
Chr4:102267945 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.836G>A (p.Arg279Gln) |
single nucleotide variant |
not specified [RCV002271842] |
Chr4:101083210 [GRCh38]
Chr4:102004367 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002250262] |
Chr4:101093796 [GRCh38]
Chr4:102014953 [GRCh37]
Chr4:4q24 |
pathogenic |
| NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter) |
single nucleotide variant |
See cases [RCV002252531]|not provided [RCV003101389] |
Chr4:101029169 [GRCh38]
Chr4:101950326 [GRCh37]
Chr4:4q24 |
pathogenic|likely pathogenic |
| NM_000944.5(PPP3CA):c.721A>C (p.Asn241His) |
single nucleotide variant |
See cases [RCV002253123] |
Chr4:101093837 [GRCh38]
Chr4:102014994 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.760del (p.Arg254fs) |
deletion |
Seizure [RCV002275916] |
Chr4:101093798 [GRCh38]
Chr4:102014955 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.700G>C (p.Asp234His) |
single nucleotide variant |
not provided [RCV002263352] |
Chr4:101093858 [GRCh38]
Chr4:102015015 [GRCh37]
Chr4:4q24 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000944.5(PPP3CA):c.*7C>A |
single nucleotide variant |
not provided [RCV002263351] |
Chr4:101025858 [GRCh38]
Chr4:101947015 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly) |
single nucleotide variant |
Epileptic encephalopathy, infantile or early childhood, 1 [RCV002262172] |
Chr4:101098479 [GRCh38]
Chr4:102019636 [GRCh37]
Chr4:4q24 |
likely pathogenic |
| NM_000944.5(PPP3CA):c.521T>C (p.Val174Ala) |
single nucleotide variant |
not provided [RCV002283114] |
Chr4:101098488 [GRCh38]
Chr4:102019645 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.755C>G (p.Thr252Arg) |
single nucleotide variant |
not provided [RCV002293790] |
Chr4:101093803 [GRCh38]
Chr4:102014960 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1070T>C (p.Val357Ala) |
single nucleotide variant |
not provided [RCV002297641] |
Chr4:101063243 [GRCh38]
Chr4:101984400 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1427T>C (p.Leu476Ser) |
single nucleotide variant |
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [RCV002284031] |
Chr4:101026004 [GRCh38]
Chr4:101947161 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1094T>C (p.Leu365Pro) |
single nucleotide variant |
not provided [RCV002474189] |
Chr4:101061149 [GRCh38]
Chr4:101982306 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1560T>G (p.Ile520Met) |
single nucleotide variant |
not provided [RCV002303815] |
Chr4:101025871 [GRCh38]
Chr4:101947028 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1168_1169delinsTT (p.Ala390Leu) |
indel |
not provided [RCV002305249] |
Chr4:101040554..101040555 [GRCh38]
Chr4:101961711..101961712 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1301G>C (p.Ser434Thr) |
single nucleotide variant |
not provided [RCV002305380] |
Chr4:101032305 [GRCh38]
Chr4:101953462 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.796T>A (p.Cys266Ser) |
single nucleotide variant |
not provided [RCV002299884] |
Chr4:101083250 [GRCh38]
Chr4:102004407 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1352C>T (p.Ala451Val) |
single nucleotide variant |
not provided [RCV002295245] |
Chr4:101029183 [GRCh38]
Chr4:101950340 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.147T>A (p.His49Gln) |
single nucleotide variant |
not provided [RCV002298170] |
Chr4:101196028 [GRCh38]
Chr4:102117185 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1005C>G (p.Asn335Lys) |
single nucleotide variant |
not provided [RCV002462520] |
Chr4:101063308 [GRCh38]
Chr4:101984465 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1242-17C>A |
single nucleotide variant |
not provided [RCV002613690] |
Chr4:101032381 [GRCh38]
Chr4:101953538 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.25C>A (p.Pro9Thr) |
single nucleotide variant |
not provided [RCV002751235] |
Chr4:101346772 [GRCh38]
Chr4:102267929 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1241+7G>A |
single nucleotide variant |
not provided [RCV002754972] |
Chr4:101040475 [GRCh38]
Chr4:101961632 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.643-6dup |
duplication |
not provided [RCV002727150] |
Chr4:101093920..101093921 [GRCh38]
Chr4:102015077..102015078 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1185G>A (p.Val395_Ile396=) |
single nucleotide variant |
not provided [RCV002861383] |
Chr4:101040538 [GRCh38]
Chr4:101961695 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.912A>G (p.Thr304_Ile305=) |
single nucleotide variant |
not provided [RCV002971912] |
Chr4:101080575 [GRCh38]
Chr4:102001732 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.495A>G (p.Glu165_Cys166=) |
single nucleotide variant |
not provided [RCV002820130] |
Chr4:101099612 [GRCh38]
Chr4:102020769 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.886A>T (p.Thr296Ser) |
single nucleotide variant |
not provided [RCV002636066] |
Chr4:101080601 [GRCh38]
Chr4:102001758 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1525G>A (p.Gly509Ser) |
single nucleotide variant |
not provided [RCV002616108] |
Chr4:101025906 [GRCh38]
Chr4:101947063 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.385-12del |
deletion |
not provided [RCV002842383] |
Chr4:101099734 [GRCh38]
Chr4:102020891 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.1134G>A (p.Gly378_Ser379=) |
single nucleotide variant |
not provided [RCV002837789] |
Chr4:101061109 [GRCh38]
Chr4:101982266 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.945C>T (p.Tyr315_Asn316=) |
single nucleotide variant |
not provided [RCV002690241] |
Chr4:101080542 [GRCh38]
Chr4:102001699 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.385-13T>G |
single nucleotide variant |
not provided [RCV002727151] |
Chr4:101099735 [GRCh38]
Chr4:102020892 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.933C>T (p.Tyr311_Leu312=) |
single nucleotide variant |
not provided [RCV002995006] |
Chr4:101080554 [GRCh38]
Chr4:102001711 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.58+8G>A |
single nucleotide variant |
not provided [RCV002947667] |
Chr4:101346731 [GRCh38]
Chr4:102267888 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.433T>C (p.Phe145Leu) |
single nucleotide variant |
not provided [RCV003016530] |
Chr4:101099674 [GRCh38]
Chr4:102020831 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1157-14G>A |
single nucleotide variant |
not provided [RCV002771333] |
Chr4:101040580 [GRCh38]
Chr4:101961737 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.678T>C (p.Pro226_Met227=) |
single nucleotide variant |
not provided [RCV002837777] |
Chr4:101093880 [GRCh38]
Chr4:102015037 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.559C>T (p.Leu187_Ala188=) |
single nucleotide variant |
not provided [RCV002639252] |
Chr4:101098450 [GRCh38]
Chr4:102019607 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1242-14_1242-12del |
deletion |
not provided [RCV002889149] |
Chr4:101032376..101032378 [GRCh38]
Chr4:101953533..101953535 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1497C>T (p.Ile499_Asn500=) |
single nucleotide variant |
not provided [RCV002760162] |
Chr4:101025934 [GRCh38]
Chr4:101947091 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.18A>C (p.Ala6_Ile7=) |
single nucleotide variant |
not provided [RCV002953812] |
Chr4:101346779 [GRCh38]
Chr4:102267936 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1509C>T (p.Leu503_Thr504=) |
single nucleotide variant |
not provided [RCV002592802] |
Chr4:101025922 [GRCh38]
Chr4:101947079 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.117A>T (p.Gly39_Lys40=) |
single nucleotide variant |
not provided [RCV002623105] |
Chr4:101196058 [GRCh38]
Chr4:102117215 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1527C>T (p.Gly509_Thr510=) |
single nucleotide variant |
not provided [RCV003054161] |
Chr4:101025904 [GRCh38]
Chr4:101947061 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.405C>T (p.Ala135_Leu136=) |
single nucleotide variant |
not provided [RCV003038058] |
Chr4:101099702 [GRCh38]
Chr4:102020859 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.59-15C>A |
single nucleotide variant |
not provided [RCV003055785] |
Chr4:101196131 [GRCh38]
Chr4:102117288 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1157-20A>G |
single nucleotide variant |
not provided [RCV003022122] |
Chr4:101040586 [GRCh38]
Chr4:101961743 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.856G>T (p.Ala286Ser) |
single nucleotide variant |
not provided [RCV003055620] |
Chr4:101083190 [GRCh38]
Chr4:102004347 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.211A>G (p.Ile71Val) |
single nucleotide variant |
not provided [RCV002999641] |
Chr4:101195964 [GRCh38]
Chr4:102117121 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1532_1540dup (p.Asn513_Gly514insAspSerAsn) |
duplication |
not provided [RCV003038121] |
Chr4:101025890..101025891 [GRCh38]
Chr4:101947047..101947048 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.676C>T (p.Pro226Ser) |
single nucleotide variant |
not provided [RCV003017839] |
Chr4:101093882 [GRCh38]
Chr4:102015039 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1369+18C>G |
single nucleotide variant |
not provided [RCV002695761] |
Chr4:101029148 [GRCh38]
Chr4:101950305 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.853G>C (p.Asp285His) |
single nucleotide variant |
not provided [RCV003036730] |
Chr4:101083193 [GRCh38]
Chr4:102004350 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.41C>T (p.Thr14Ile) |
single nucleotide variant |
not provided [RCV002760213] |
Chr4:101346756 [GRCh38]
Chr4:102267913 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1239C>T (p.Leu413_Arg414=) |
single nucleotide variant |
not provided [RCV002639187] |
Chr4:101040484 [GRCh38]
Chr4:101961641 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1225G>A (p.Val409Met) |
single nucleotide variant |
not provided [RCV003054995] |
Chr4:101040498 [GRCh38]
Chr4:101961655 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.220C>G (p.Gln74Glu) |
single nucleotide variant |
not provided [RCV003055007] |
Chr4:101195955 [GRCh38]
Chr4:102117112 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1366G>A (p.Glu456Lys) |
single nucleotide variant |
not provided [RCV002999141] |
Chr4:101029169 [GRCh38]
Chr4:101950326 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.955+12T>A |
single nucleotide variant |
not provided [RCV002760405] |
Chr4:101080520 [GRCh38]
Chr4:102001677 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.384+17T>G |
single nucleotide variant |
not provided [RCV002690887] |
Chr4:101108937 [GRCh38]
Chr4:102030094 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.83G>A (p.Arg28Gln) |
single nucleotide variant |
not provided [RCV002795737] |
Chr4:101196092 [GRCh38]
Chr4:102117249 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1242-13T>G |
single nucleotide variant |
Inborn genetic diseases [RCV002692132] |
Chr4:101032377 [GRCh38]
Chr4:101953534 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.813C>A (p.His271Gln) |
single nucleotide variant |
not provided [RCV002706367] |
Chr4:101083233 [GRCh38]
Chr4:102004390 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.783-15_783-12del |
deletion |
not provided [RCV003054955] |
Chr4:101083275..101083278 [GRCh38]
Chr4:102004432..102004435 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1266G>A (p.Thr422_Leu423=) |
single nucleotide variant |
not provided [RCV002645621] |
Chr4:101032340 [GRCh38]
Chr4:101953497 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.267G>C (p.Gly89_Asp90=) |
single nucleotide variant |
not provided [RCV003025046] |
Chr4:101109071 [GRCh38]
Chr4:102030228 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1206A>G (p.Ala402_Ile403=) |
single nucleotide variant |
not provided [RCV002895043] |
Chr4:101040517 [GRCh38]
Chr4:101961674 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.956-13del |
deletion |
not provided [RCV003007930] |
Chr4:101063370 [GRCh38]
Chr4:101984527 [GRCh37]
Chr4:4q24 |
benign |
| NM_000944.5(PPP3CA):c.201G>C (p.Glu67Asp) |
single nucleotide variant |
not provided [RCV002918202] |
Chr4:101195974 [GRCh38]
Chr4:102117131 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1528A>T (p.Thr510Ser) |
single nucleotide variant |
not provided [RCV003057086] |
Chr4:101025903 [GRCh38]
Chr4:101947060 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1224A>G (p.Arg408_Val409=) |
single nucleotide variant |
not provided [RCV002700458] |
Chr4:101040499 [GRCh38]
Chr4:101961656 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.643-11A>C |
single nucleotide variant |
not provided [RCV003023085] |
Chr4:101093926 [GRCh38]
Chr4:102015083 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1007G>C (p.Cys336Ser) |
single nucleotide variant |
not provided [RCV003040822] |
Chr4:101063306 [GRCh38]
Chr4:101984463 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1107C>T (p.Leu369_Asn370=) |
single nucleotide variant |
not provided [RCV002894520] |
Chr4:101061136 [GRCh38]
Chr4:101982293 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.123T>G (p.Pro41_Arg42=) |
single nucleotide variant |
not provided [RCV003042250] |
Chr4:101196052 [GRCh38]
Chr4:102117209 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.183A>G (p.Ala61_Leu62=) |
single nucleotide variant |
not provided [RCV002711958] |
Chr4:101195992 [GRCh38]
Chr4:102117149 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1248G>A (p.Glu416_Ser417=) |
single nucleotide variant |
not provided [RCV002876579] |
Chr4:101032358 [GRCh38]
Chr4:101953515 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.36G>C (p.Ser12_Thr13=) |
single nucleotide variant |
not provided [RCV002982356] |
Chr4:101346761 [GRCh38]
Chr4:102267918 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.497-16T>G |
single nucleotide variant |
not provided [RCV003041100] |
Chr4:101098528 [GRCh38]
Chr4:102019685 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.267G>T (p.Gly89_Asp90=) |
single nucleotide variant |
not provided [RCV002791135] |
Chr4:101109071 [GRCh38]
Chr4:102030228 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.682T>A (p.Cys228Ser) |
single nucleotide variant |
not provided [RCV003007447] |
Chr4:101093876 [GRCh38]
Chr4:102015033 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.5C>G (p.Ser2Cys) |
single nucleotide variant |
not provided [RCV002700101] |
Chr4:101346792 [GRCh38]
Chr4:102267949 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.121C>A (p.Pro41Thr) |
single nucleotide variant |
not provided [RCV002663228] |
Chr4:101196054 [GRCh38]
Chr4:102117211 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.513A>G (p.Ser171_Glu172=) |
single nucleotide variant |
not provided [RCV002626450] |
Chr4:101098496 [GRCh38]
Chr4:102019653 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.543C>T (p.Ala181_Phe182=) |
single nucleotide variant |
not provided [RCV002632610] |
Chr4:101098466 [GRCh38]
Chr4:102019623 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1369+17C>T |
single nucleotide variant |
not provided [RCV003049263] |
Chr4:101029149 [GRCh38]
Chr4:101950306 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.964T>C (p.Leu322_Lys323=) |
single nucleotide variant |
not provided [RCV003030724] |
Chr4:101063349 [GRCh38]
Chr4:101984506 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1116C>T (p.Cys372_Ser373=) |
single nucleotide variant |
not provided [RCV002967116] |
Chr4:101061127 [GRCh38]
Chr4:101982284 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1191G>A (p.Arg397_Asn398=) |
single nucleotide variant |
not provided [RCV003047677] |
Chr4:101040532 [GRCh38]
Chr4:101961689 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.12C>T (p.Pro4_Lys5=) |
single nucleotide variant |
not provided [RCV002581330] |
Chr4:101346785 [GRCh38]
Chr4:102267942 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1082-15G>A |
single nucleotide variant |
not provided [RCV002646799] |
Chr4:101061176 [GRCh38]
Chr4:101982333 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.496+11T>G |
single nucleotide variant |
not provided [RCV002675850] |
Chr4:101099600 [GRCh38]
Chr4:102020757 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.147T>C (p.His49_Leu50=) |
single nucleotide variant |
not provided [RCV002645953] |
Chr4:101196028 [GRCh38]
Chr4:102117185 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1397A>C (p.Lys466Thr) |
single nucleotide variant |
not provided [RCV002938070] |
Chr4:101026034 [GRCh38]
Chr4:101947191 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1410C>G (p.Phe470Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002793251] |
Chr4:101026021 [GRCh38]
Chr4:101947178 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.754A>G (p.Thr252Ala) |
single nucleotide variant |
not provided [RCV002937904] |
Chr4:101093804 [GRCh38]
Chr4:102014961 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1490A>T (p.Asn497Ile) |
single nucleotide variant |
not provided [RCV002600370] |
Chr4:101025941 [GRCh38]
Chr4:101947098 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.860+8G>A |
single nucleotide variant |
not provided [RCV002833420] |
Chr4:101083178 [GRCh38]
Chr4:102004335 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1241+19T>C |
single nucleotide variant |
not provided [RCV002631498] |
Chr4:101040463 [GRCh38]
Chr4:101961620 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1563G>A (p.Gln521_Ter522=) |
single nucleotide variant |
not provided [RCV002717004] |
Chr4:101025868 [GRCh38]
Chr4:101947025 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1365T>C (p.Asp455_Glu456=) |
single nucleotide variant |
not provided [RCV003062723] |
Chr4:101029170 [GRCh38]
Chr4:101950327 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.706C>T (p.Leu236_Glu237=) |
single nucleotide variant |
not provided [RCV002672009] |
Chr4:101093852 [GRCh38]
Chr4:102015009 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.618T>A (p.Ile206_Asn207=) |
single nucleotide variant |
not provided [RCV002720996] |
Chr4:101098391 [GRCh38]
Chr4:102019548 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.496+9A>G |
single nucleotide variant |
not provided [RCV002857130] |
Chr4:101099602 [GRCh38]
Chr4:102020759 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.667G>C (p.Ala223Pro) |
single nucleotide variant |
not provided [RCV003028843] |
Chr4:101093891 [GRCh38]
Chr4:102015048 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1101T>C (p.Asn367_Val368=) |
single nucleotide variant |
not provided [RCV002630941] |
Chr4:101061142 [GRCh38]
Chr4:101982299 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.1484A>G (p.Asn495Ser) |
single nucleotide variant |
not provided [RCV002584257] |
Chr4:101025947 [GRCh38]
Chr4:101947104 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.259+17G>T |
single nucleotide variant |
not provided [RCV002944324] |
Chr4:101195899 [GRCh38]
Chr4:102117056 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.623C>T (p.Thr208Ile) |
single nucleotide variant |
not provided [RCV002586849] |
Chr4:101098386 [GRCh38]
Chr4:102019543 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1082-3T>C |
single nucleotide variant |
not provided [RCV002589503] |
Chr4:101061164 [GRCh38]
Chr4:101982321 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.1157-13_1157-10del |
deletion |
not provided [RCV002588259] |
Chr4:101040576..101040579 [GRCh38]
Chr4:101961733..101961736 [GRCh37]
Chr4:4q24 |
likely benign |
| NM_000944.5(PPP3CA):c.142G>T (p.Ala48Ser) |
single nucleotide variant |
not provided [RCV002944137] |
Chr4:101196033 [GRCh38]
Chr4:102117190 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.106G>A (p.Asp36Asn) |
single nucleotide variant |
not provided [RCV002606694] |
Chr4:101196069 [GRCh38]
Chr4:102117226 [GRCh37]
Chr4:4q24 |
uncertain significance |
| NM_000944.5(PPP3CA):c.789G>A (p.Pro263_Ala264=) |
single nucleotide variant |
not provided [RCV002612772] |
Chr4:101083257 [GRCh38]
Chr4:102004414 [GRCh37]
Chr4:4q24 |
likely benign |
