| NM_006254.4(PRKCD):c.1743+8C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000554360] |
Chr3:53189254 [GRCh38]
Chr3:53223270 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1926G>A (p.Ala642=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000526084]|not provided [RCV001692189] |
Chr3:53192161 [GRCh38]
Chr3:53226177 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000544622] |
Chr3:53185605 [GRCh38]
Chr3:53219621 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1176G>A (p.Glu392=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001395766]|PRKCD-related disorder [RCV003935520]|not provided [RCV004711182] |
Chr3:53186256 [GRCh38]
Chr3:53220272 [GRCh37]
Chr3:3p21.1 |
likely benign |
| GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 |
copy number loss |
See cases [RCV000051511] |
Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3 |
pathogenic |
| NM_006254.3(PRKCD):c.1934C>T (p.Ser645Phe) |
single nucleotide variant |
Malignant melanoma [RCV000060848] |
Chr3:53192169 [GRCh38]
Chr3:53226185 [GRCh37]
Chr3:53201225 [NCBI36]
Chr3:3p21.1 |
not provided |
| NM_006254.4(PRKCD):c.1352+1G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000074607] |
Chr3:53186696 [GRCh38]
Chr3:53220712 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000144965] |
Chr3:53188832 [GRCh38]
Chr3:53222848 [GRCh37]
Chr3:3p21.1 |
pathogenic|not provided |
| NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000144966]|not provided [RCV003105796] |
Chr3:53189969 [GRCh38]
Chr3:53223985 [GRCh37]
Chr3:3p21.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 |
copy number loss |
See cases [RCV000143631] |
Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3 |
likely pathogenic |
| NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000821649]|not provided [RCV000756563] |
Chr3:53185664 [GRCh38]
Chr3:53219680 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001857837]|Inborn genetic diseases [RCV003165675]|not specified [RCV000239035] |
Chr3:53188752 [GRCh38]
Chr3:53222768 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 |
copy number loss |
See cases [RCV000239886] |
Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2 |
pathogenic |
| NM_006254.4(PRKCD):c.741C>T (p.Cys247=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000531998]|not provided [RCV004717664] |
Chr3:53183535 [GRCh38]
Chr3:53217551 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.945T>C (p.Gly315=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000552657] |
Chr3:53185660 [GRCh38]
Chr3:53219676 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1260+6C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001000594]|PRKCD-related disorder [RCV003925697] |
Chr3:53186346 [GRCh38]
Chr3:53220362 [GRCh37]
Chr3:3p21.1 |
benign|likely benign |
| NM_006254.4(PRKCD):c.1525T>C (p.Cys509Arg) |
single nucleotide variant |
not provided [RCV000722195] |
Chr3:53188829 [GRCh38]
Chr3:53222845 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.715A>G (p.Met239Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000555820] |
Chr3:53183509 [GRCh38]
Chr3:53217525 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1360G>A (p.Ala454Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004022172]|not specified [RCV000413423] |
Chr3:53187347 [GRCh38]
Chr3:53221363 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515316]|not provided [RCV001653809]|not specified [RCV000454840] |
Chr3:53189911 [GRCh38]
Chr3:53223927 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.180T>C (p.Asp60=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515643]|not provided [RCV001672771]|not specified [RCV000454899] |
Chr3:53179641 [GRCh38]
Chr3:53213657 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515317]|not provided [RCV001613284]|not specified [RCV000455503] |
Chr3:53189986 [GRCh38]
Chr3:53224002 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515314]|not provided [RCV001692120]|not specified [RCV000455584] |
Chr3:53186199 [GRCh38]
Chr3:53220215 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515315]|not provided [RCV001712413]|not specified [RCV000455968] |
Chr3:53188745 [GRCh38]
Chr3:53222761 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001081059]|not provided [RCV000506287] |
Chr3:53185984 [GRCh38]
Chr3:53220000 [GRCh37]
Chr3:3p21.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000538649] |
Chr3:53179675 [GRCh38]
Chr3:53213691 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.889-9C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000768295] |
Chr3:53185595 [GRCh38]
Chr3:53219611 [GRCh37]
Chr3:3p21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_006254.4(PRKCD):c.908A>G (p.Asp303Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005102619]|Inborn genetic diseases [RCV003262035] |
Chr3:53185623 [GRCh38]
Chr3:53219639 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.584C>T (p.Ala195Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651927] |
Chr3:53183133 [GRCh38]
Chr3:53217149 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651929] |
Chr3:53185977 [GRCh38]
Chr3:53219993 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.788-2A>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651930] |
Chr3:53184872 [GRCh38]
Chr3:53218888 [GRCh37]
Chr3:3p21.1 |
likely pathogenic |
| NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651931] |
Chr3:53186022 [GRCh38]
Chr3:53220038 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1981G>A (p.Ala661Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651932]|not provided [RCV004692039] |
Chr3:53192216 [GRCh38]
Chr3:53226232 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1086+9T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651933] |
Chr3:53186036 [GRCh38]
Chr3:53220052 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651934]|not provided [RCV001703224] |
Chr3:53187349 [GRCh38]
Chr3:53221365 [GRCh37]
Chr3:3p21.1 |
likely benign |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000690095] |
Chr3:53183153 [GRCh38]
Chr3:53217169 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000693078] |
Chr3:53178444 [GRCh38]
Chr3:53212460 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1352+4C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000699227] |
Chr3:53186699 [GRCh38]
Chr3:53220715 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000690189] |
Chr3:53185655 [GRCh38]
Chr3:53219671 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.928G>A (p.Val310Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000695715] |
Chr3:53185643 [GRCh38]
Chr3:53219659 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1296G>T (p.Gly432=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000806209] |
Chr3:53186639 [GRCh38]
Chr3:53220655 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_006254.4(PRKCD):c.-19-208C>A |
single nucleotide variant |
not provided [RCV001679783] |
Chr3:53178196 [GRCh38]
Chr3:53212212 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1341C>T (p.Leu447=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000979698] |
Chr3:53186684 [GRCh38]
Chr3:53220700 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.579C>T (p.Asn193=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583180] |
Chr3:53183128 [GRCh38]
Chr3:53217144 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1635G>A (p.Gln545=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001403772] |
Chr3:53189138 [GRCh38]
Chr3:53223154 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+24GT[13] |
microsatellite |
not provided [RCV001668058] |
Chr3:53179799..53179800 [GRCh38]
Chr3:53213815..53213816 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.152T>C (p.Met51Thr) |
single nucleotide variant |
not provided [RCV000762118] |
Chr3:53179613 [GRCh38]
Chr3:53213629 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.788-183dup |
duplication |
not provided [RCV001662992] |
Chr3:53184675..53184676 [GRCh38]
Chr3:53218691..53218692 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001045480]|Inborn genetic diseases [RCV004649421] |
Chr3:53185939 [GRCh38]
Chr3:53219955 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1682G>A (p.Arg561His) |
single nucleotide variant |
not provided [RCV000998092] |
Chr3:53189185 [GRCh38]
Chr3:53223201 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.-19-37C>T |
single nucleotide variant |
not provided [RCV001679360]|not specified [RCV003401614] |
Chr3:53178367 [GRCh38]
Chr3:53212383 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1743+29_1743+33del |
deletion |
not provided [RCV001668863]|not specified [RCV003401576] |
Chr3:53189271..53189275 [GRCh38]
Chr3:53223287..53223291 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000981690]|not provided [RCV004808993] |
Chr3:53188751 [GRCh38]
Chr3:53222767 [GRCh37]
Chr3:3p21.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_006254.4(PRKCD):c.1956C>T (p.Ile652=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000900408]|not provided [RCV004711388] |
Chr3:53192191 [GRCh38]
Chr3:53226207 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1470C>T (p.Ala490=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001401477] |
Chr3:53188774 [GRCh38]
Chr3:53222790 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.693C>T (p.His231=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001462155] |
Chr3:53183487 [GRCh38]
Chr3:53217503 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.243G>C (p.Val81=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001436316] |
Chr3:53179704 [GRCh38]
Chr3:53213720 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1500C>T (p.Phe500=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000900993]|PRKCD-related disorder [RCV003950566] |
Chr3:53188804 [GRCh38]
Chr3:53222820 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.792C>T (p.Cys264=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000923383] |
Chr3:53184878 [GRCh38]
Chr3:53218894 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+10G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001440882]|PRKCD-related disorder [RCV003942879] |
Chr3:53179786 [GRCh38]
Chr3:53213802 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1156C>T (p.Leu386=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000927060] |
Chr3:53186236 [GRCh38]
Chr3:53220252 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.912A>G (p.Ser304=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000899447]|PRKCD-related disorder [RCV004758751] |
Chr3:53185627 [GRCh38]
Chr3:53219643 [GRCh37]
Chr3:3p21.1 |
benign|likely benign |
| NM_006254.4(PRKCD):c.264G>T (p.Val88=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002537551] |
Chr3:53179725 [GRCh38]
Chr3:53213741 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1002C>T (p.Tyr334=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001481002] |
Chr3:53185943 [GRCh38]
Chr3:53219959 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1365T>G (p.Ala455=) |
single nucleotide variant |
not provided [RCV000924468] |
Chr3:53187352 [GRCh38]
Chr3:53221368 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.174G>A (p.Thr58=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001423873]|not provided [RCV003432940] |
Chr3:53179635 [GRCh38]
Chr3:53213651 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.373G>A (p.Val125Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001058603] |
Chr3:53181264 [GRCh38]
Chr3:53215280 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.395G>A (p.Arg132His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001070545] |
Chr3:53181462 [GRCh38]
Chr3:53215478 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.1294G>A (p.Gly432Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001048964] |
Chr3:53186637 [GRCh38]
Chr3:53220653 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001060914] |
Chr3:53185981 [GRCh38]
Chr3:53219997 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000791738]|Inborn genetic diseases [RCV004027394] |
Chr3:53189194 [GRCh38]
Chr3:53223210 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.1707C>G (p.Arg569=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000809668] |
Chr3:53189210 [GRCh38]
Chr3:53223226 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.217C>T (p.Leu73=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001475602] |
Chr3:53179678 [GRCh38]
Chr3:53213694 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.300C>A (p.Gly100=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000963819]|not provided [RCV004711463] |
Chr3:53179761 [GRCh38]
Chr3:53213777 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.915C>T (p.Ala305=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000933050]|PRKCD-related disorder [RCV003960499] |
Chr3:53185630 [GRCh38]
Chr3:53219646 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.2010C>T (p.Phe670=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000936594] |
Chr3:53192245 [GRCh38]
Chr3:53226261 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.915C>A (p.Ala305=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001484308] |
Chr3:53185630 [GRCh38]
Chr3:53219646 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.57C>G (p.Ala19=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000983472] |
Chr3:53178479 [GRCh38]
Chr3:53212495 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.603C>T (p.Ile201=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000966289]|not provided [RCV001702867] |
Chr3:53183152 [GRCh38]
Chr3:53217168 [GRCh37]
Chr3:3p21.1 |
benign|likely benign |
| GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) |
copy number gain |
not provided [RCV000767704] |
Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000813676]|not provided [RCV004768686] |
Chr3:53189208 [GRCh38]
Chr3:53223224 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.372C>T (p.Asp124=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000960457] |
Chr3:53181263 [GRCh38]
Chr3:53215279 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000799460] |
Chr3:53181710 [GRCh38]
Chr3:53215726 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.202G>A (p.Val68Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000819270] |
Chr3:53179663 [GRCh38]
Chr3:53213679 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000816082] |
Chr3:53183159 [GRCh38]
Chr3:53217175 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1872+1G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000821269] |
Chr3:53190002 [GRCh38]
Chr3:53224018 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.68C>T (p.Ala23Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000818271]|Inborn genetic diseases [RCV004028947]|not provided [RCV004711306] |
Chr3:53178490 [GRCh38]
Chr3:53212506 [GRCh37]
Chr3:3p21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006254.4(PRKCD):c.1998G>A (p.Val666=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001436376] |
Chr3:53192233 [GRCh38]
Chr3:53226249 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000809137] |
Chr3:53179741 [GRCh38]
Chr3:53213757 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.657+3G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000795484]|not provided [RCV004692268] |
Chr3:53183209 [GRCh38]
Chr3:53217225 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000803050]|not provided [RCV000998091] |
Chr3:53186293 [GRCh38]
Chr3:53220309 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000815675]|not provided [RCV004792521] |
Chr3:53186001 [GRCh38]
Chr3:53220017 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000816095] |
Chr3:53181484 [GRCh38]
Chr3:53215500 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met) |
indel |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000817708] |
Chr3:53189910..53189911 [GRCh38]
Chr3:53223926..53223927 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000811737] |
Chr3:53186688 [GRCh38]
Chr3:53220704 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000796220] |
Chr3:53185676 [GRCh38]
Chr3:53219692 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000796431] |
Chr3:53186001 [GRCh38]
Chr3:53220017 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1844G>T (p.Arg615Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001246338]|Inborn genetic diseases [RCV002554825]|not provided [RCV001091095] |
Chr3:53189973 [GRCh38]
Chr3:53223989 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1450G>A (p.Asp484Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001065493] |
Chr3:53188754 [GRCh38]
Chr3:53222770 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000796846] |
Chr3:53183129 [GRCh38]
Chr3:53217145 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1671C>T (p.Phe557=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000893481] |
Chr3:53189174 [GRCh38]
Chr3:53223190 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001047130] |
Chr3:53185611 [GRCh38]
Chr3:53219627 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.884C>T (p.Thr295Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001211123] |
Chr3:53184970 [GRCh38]
Chr3:53218986 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.267G>A (p.Ser89=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001238980]|not provided [RCV004692282] |
Chr3:53179728 [GRCh38]
Chr3:53213744 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.652A>G (p.Thr218Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001221098] |
Chr3:53183201 [GRCh38]
Chr3:53217217 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001210040]|Inborn genetic diseases [RCV004960543] |
Chr3:53179758 [GRCh38]
Chr3:53213774 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1051T>G (p.Phe351Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001238570]|not provided [RCV004793334] |
Chr3:53185992 [GRCh38]
Chr3:53220008 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1342T>A (p.Tyr448Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001222114] |
Chr3:53186685 [GRCh38]
Chr3:53220701 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1073G>A (p.Gly358Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV004813439] |
Chr3:53186014 [GRCh38]
Chr3:53220030 [GRCh37]
Chr3:3p21.1 |
likely pathogenic |
| NM_006254.4(PRKCD):c.-19-241C>T |
single nucleotide variant |
not provided [RCV001619030] |
Chr3:53178163 [GRCh38]
Chr3:53212179 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.115+21C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001789529]|not provided [RCV001682240]|not specified [RCV003401608] |
Chr3:53178558 [GRCh38]
Chr3:53212574 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+9C>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001002188]|PRKCD-related disorder [RCV003972957] |
Chr3:53179785 [GRCh38]
Chr3:53213801 [GRCh37]
Chr3:3p21.1 |
benign|likely benign |
| NM_006254.4(PRKCD):c.1269G>A (p.Leu423=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000919006] |
Chr3:53186612 [GRCh38]
Chr3:53220628 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.240A>G (p.Pro80=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002549559] |
Chr3:53179701 [GRCh38]
Chr3:53213717 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.63C>T (p.Asp21=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001430038] |
Chr3:53178485 [GRCh38]
Chr3:53212501 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.2028T>C (p.Asp676=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001399391] |
Chr3:53192263 [GRCh38]
Chr3:53226279 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.276C>T (p.Ala92=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001401988] |
Chr3:53179737 [GRCh38]
Chr3:53213753 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.105G>A (p.Ala35=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000887074] |
Chr3:53178527 [GRCh38]
Chr3:53212543 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1415+7G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000904602]|not provided [RCV003326501] |
Chr3:53187409 [GRCh38]
Chr3:53221425 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1415+9G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000977936] |
Chr3:53187411 [GRCh38]
Chr3:53221427 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1637C>T (p.Ser546Phe) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001242877] |
Chr3:53189140 [GRCh38]
Chr3:53223156 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.991A>G (p.Ser331Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001206464]|Inborn genetic diseases [RCV004649486]|not provided [RCV003325550] |
Chr3:53185932 [GRCh38]
Chr3:53219948 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001070448] |
Chr3:53183165 [GRCh38]
Chr3:53217181 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1293C>T (p.Asn431=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000935657] |
Chr3:53186636 [GRCh38]
Chr3:53220652 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1554+8G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000889396]|PRKCD-related disorder [RCV003920735] |
Chr3:53188866 [GRCh38]
Chr3:53222882 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1791C>A (p.Ile597=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001415779] |
Chr3:53189920 [GRCh38]
Chr3:53223936 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1260+7G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000912986] |
Chr3:53186347 [GRCh38]
Chr3:53220363 [GRCh37]
Chr3:3p21.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_006254.4(PRKCD):c.1299G>A (p.Gly433=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000936042] |
Chr3:53186642 [GRCh38]
Chr3:53220658 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1555-6C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000935161] |
Chr3:53189052 [GRCh38]
Chr3:53223068 [GRCh37]
Chr3:3p21.1 |
likely benign |
| GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3 |
copy number gain |
not provided [RCV002473850] |
Chr3:52780509..53418869 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1260+88T>C |
single nucleotide variant |
not provided [RCV001721581]|not specified [RCV003401653] |
Chr3:53186428 [GRCh38]
Chr3:53220444 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1743+29T>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001789430]|not provided [RCV001595729]|not specified [RCV003399406] |
Chr3:53189275 [GRCh38]
Chr3:53223291 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1260+123dup |
duplication |
not provided [RCV001661205]|not specified [RCV003401563] |
Chr3:53186457..53186458 [GRCh38]
Chr3:53220473..53220474 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.571+51G>A |
single nucleotide variant |
not provided [RCV001598744]|not specified [RCV003399404] |
Chr3:53181783 [GRCh38]
Chr3:53215799 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1261-51G>A |
single nucleotide variant |
not provided [RCV001595937]|not specified [RCV003399408] |
Chr3:53186553 [GRCh38]
Chr3:53220569 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1726A>G (p.Lys576Glu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001068763] |
Chr3:53189229 [GRCh38]
Chr3:53223245 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.116-55C>G |
single nucleotide variant |
not provided [RCV001610949]|not specified [RCV003399412] |
Chr3:53179522 [GRCh38]
Chr3:53213538 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.571+127A>C |
single nucleotide variant |
not provided [RCV001680758]|not specified [RCV003401600] |
Chr3:53181859 [GRCh38]
Chr3:53215875 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.115+163C>T |
single nucleotide variant |
not provided [RCV001667899] |
Chr3:53178700 [GRCh38]
Chr3:53212716 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.788-183AG[10] |
microsatellite |
not provided [RCV001611877] |
Chr3:53184690..53184691 [GRCh38]
Chr3:53218706..53218707 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+24GT[12] |
microsatellite |
not provided [RCV001652657]|not specified [RCV003394187] |
Chr3:53179799..53179800 [GRCh38]
Chr3:53213815..53213816 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1260+123_1260+124insG |
insertion |
not provided [RCV001708609]|not specified [RCV003401636] |
Chr3:53186463..53186464 [GRCh38]
Chr3:53220479..53220480 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.788-251C>T |
single nucleotide variant |
not provided [RCV001682177] |
Chr3:53184623 [GRCh38]
Chr3:53218639 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.316-82C>A |
single nucleotide variant |
not provided [RCV001615762]|not specified [RCV003487514] |
Chr3:53181125 [GRCh38]
Chr3:53215141 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.799A>C (p.Asn267His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001036343]|Inborn genetic diseases [RCV004958367] |
Chr3:53184885 [GRCh38]
Chr3:53218901 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001231375] |
Chr3:53181732 [GRCh38]
Chr3:53215748 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.377-10T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001220340] |
Chr3:53181434 [GRCh38]
Chr3:53215450 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1306A>T (p.Met436Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001205418] |
Chr3:53186649 [GRCh38]
Chr3:53220665 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1672G>A (p.Glu558Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001214321] |
Chr3:53189175 [GRCh38]
Chr3:53223191 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1231A>G (p.Thr411Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001205915] |
Chr3:53186311 [GRCh38]
Chr3:53220327 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.744C>T (p.Gly248=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001058768] |
Chr3:53183538 [GRCh38]
Chr3:53217554 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.1927C>T (p.Arg643Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001216406] |
Chr3:53192162 [GRCh38]
Chr3:53226178 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1784G>A (p.Gly595Glu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001215341] |
Chr3:53189913 [GRCh38]
Chr3:53223929 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.256G>A (p.Val86Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001218559]|Inborn genetic diseases [RCV004960565] |
Chr3:53179717 [GRCh38]
Chr3:53213733 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1957G>A (p.Asp653Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001048870] |
Chr3:53192192 [GRCh38]
Chr3:53226208 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001071105]|Inborn genetic diseases [RCV004030778] |
Chr3:53186291 [GRCh38]
Chr3:53220307 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.899G>A (p.Arg300Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001039743] |
Chr3:53185614 [GRCh38]
Chr3:53219630 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001053969] |
Chr3:53181525 [GRCh38]
Chr3:53215541 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001055862] |
Chr3:53185640 [GRCh38]
Chr3:53219656 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1244G>A (p.Cys415Tyr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001042162] |
Chr3:53186324 [GRCh38]
Chr3:53220340 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.1822T>C (p.Trp608Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001233165] |
Chr3:53189951 [GRCh38]
Chr3:53223967 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.214G>A (p.Val72Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001038721] |
Chr3:53179675 [GRCh38]
Chr3:53213691 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1652A>G (p.Asp551Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001062972] |
Chr3:53189155 [GRCh38]
Chr3:53223171 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.88G>A (p.Val30Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001246177] |
Chr3:53178510 [GRCh38]
Chr3:53212526 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.743G>A (p.Gly248Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001313618] |
Chr3:53183537 [GRCh38]
Chr3:53217553 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.742G>A (p.Gly248Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001267783] |
Chr3:53183536 [GRCh38]
Chr3:53217552 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.869C>T (p.Ala290Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001325024] |
Chr3:53184955 [GRCh38]
Chr3:53218971 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.826G>T (p.Val276Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001301866] |
Chr3:53184912 [GRCh38]
Chr3:53218928 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.703G>A (p.Val235Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001289607] |
Chr3:53183497 [GRCh38]
Chr3:53217513 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1329C>T (p.Gly443=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001343151] |
Chr3:53186672 [GRCh38]
Chr3:53220688 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.2002C>T (p.Pro668Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001343179] |
Chr3:53192237 [GRCh38]
Chr3:53226253 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1706G>A (p.Arg569His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001343631] |
Chr3:53189209 [GRCh38]
Chr3:53223225 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.268G>A (p.Val90Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001315325] |
Chr3:53179729 [GRCh38]
Chr3:53213745 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001342972] |
Chr3:53179601 [GRCh38]
Chr3:53213617 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1763C>G (p.Thr588Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001369912] |
Chr3:53189892 [GRCh38]
Chr3:53223908 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NC_000003.11:g.(?_53125899)_(53226302_?)del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001382500] |
Chr3:53125899..53226302 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.985+10G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001397262] |
Chr3:53185710 [GRCh38]
Chr3:53219726 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.305C>T (p.Ala102Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001371639] |
Chr3:53179766 [GRCh38]
Chr3:53213782 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.531C>G (p.Asp177Glu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001341991] |
Chr3:53181598 [GRCh38]
Chr3:53215614 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.635C>T (p.Ala212Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001320243] |
Chr3:53183184 [GRCh38]
Chr3:53217200 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001316718] |
Chr3:53178466 [GRCh38]
Chr3:53212482 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1184T>C (p.Met395Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001324360] |
Chr3:53186264 [GRCh38]
Chr3:53220280 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1003G>A (p.Gly335Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001295577] |
Chr3:53185944 [GRCh38]
Chr3:53219960 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1743+10CTGGG[4] |
microsatellite |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001305905] |
Chr3:53189255..53189256 [GRCh38]
Chr3:53223271..53223272 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NC_000003.11:g.(?_53125899)_(53215768_?)dup |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001309080] |
Chr3:53125899..53215768 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1727A>G (p.Lys576Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001364327]|Inborn genetic diseases [RCV003169831] |
Chr3:53189230 [GRCh38]
Chr3:53223246 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1801C>G (p.Pro601Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001299568] |
Chr3:53189930 [GRCh38]
Chr3:53223946 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001340311] |
Chr3:53179631 [GRCh38]
Chr3:53213647 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.647G>A (p.Arg216Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001325888] |
Chr3:53183196 [GRCh38]
Chr3:53217212 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1873-3T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001307173] |
Chr3:53192105 [GRCh38]
Chr3:53226121 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1123T>G (p.Phe375Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001365462] |
Chr3:53186203 [GRCh38]
Chr3:53220219 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.948C>T (p.Phe316=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001413086]|not provided [RCV003438777] |
Chr3:53185663 [GRCh38]
Chr3:53219679 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1928G>A (p.Arg643His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001365969] |
Chr3:53192163 [GRCh38]
Chr3:53226179 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.651C>T (p.Asp217=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001490374] |
Chr3:53183200 [GRCh38]
Chr3:53217216 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1881C>G (p.Pro627=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001457088] |
Chr3:53192116 [GRCh38]
Chr3:53226132 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1788C>T (p.Asn596=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001451742] |
Chr3:53189917 [GRCh38]
Chr3:53223933 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1415+19C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001520801]|not provided [RCV004716738] |
Chr3:53187421 [GRCh38]
Chr3:53221437 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.539+9C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001415760] |
Chr3:53181615 [GRCh38]
Chr3:53215631 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.9G>A (p.Pro3=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001405843] |
Chr3:53178431 [GRCh38]
Chr3:53212447 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.531C>T (p.Asp177=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001408917] |
Chr3:53181598 [GRCh38]
Chr3:53215614 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.658-5_658-2dup |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001502338] |
Chr3:53183446..53183447 [GRCh38]
Chr3:53217462..53217463 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.633C>T (p.Thr211=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001494317] |
Chr3:53183182 [GRCh38]
Chr3:53217198 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.21C>T (p.Ile7=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001481985] |
Chr3:53178443 [GRCh38]
Chr3:53212459 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+178C>T |
single nucleotide variant |
not provided [RCV001645429] |
Chr3:53179954 [GRCh38]
Chr3:53213970 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.658-55A>G |
single nucleotide variant |
not provided [RCV001673786]|not specified [RCV003401579] |
Chr3:53183397 [GRCh38]
Chr3:53217413 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1352+54_1352+61del |
deletion |
not provided [RCV001536473]|not specified [RCV003394119] |
Chr3:53186748..53186755 [GRCh38]
Chr3:53220764..53220771 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1415+92C>T |
single nucleotide variant |
not provided [RCV001653341] |
Chr3:53187494 [GRCh38]
Chr3:53221510 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1260+19G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001511823]|not provided [RCV001638102] |
Chr3:53186359 [GRCh38]
Chr3:53220375 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1087-54G>T |
single nucleotide variant |
not provided [RCV001540568] |
Chr3:53186113 [GRCh38]
Chr3:53220129 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1941C>T (p.Ser647=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001477921] |
Chr3:53192176 [GRCh38]
Chr3:53226192 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.690G>A (p.Pro230=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001464658] |
Chr3:53183484 [GRCh38]
Chr3:53217500 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1301del (p.Asp434fs) |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001385018] |
Chr3:53186644 [GRCh38]
Chr3:53220660 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.840C>T (p.Cys280=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001488003] |
Chr3:53184926 [GRCh38]
Chr3:53218942 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.255C>T (p.Thr85=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001403531] |
Chr3:53179716 [GRCh38]
Chr3:53213732 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.405C>T (p.Asp135=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001459970]|not provided [RCV004711650] |
Chr3:53181472 [GRCh38]
Chr3:53215488 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1744-7G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001458814] |
Chr3:53189866 [GRCh38]
Chr3:53223882 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.492C>A (p.Thr164=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001484825] |
Chr3:53181559 [GRCh38]
Chr3:53215575 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.57C>T (p.Ala19=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001419813] |
Chr3:53178479 [GRCh38]
Chr3:53212495 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1692G>A (p.Thr564=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001476888] |
Chr3:53189195 [GRCh38]
Chr3:53223211 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1212C>T (p.Ala404=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001400759] |
Chr3:53186292 [GRCh38]
Chr3:53220308 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.960C>T (p.Thr320=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001462184] |
Chr3:53185675 [GRCh38]
Chr3:53219691 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.729C>T (p.Phe243=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001430828] |
Chr3:53183523 [GRCh38]
Chr3:53217539 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1976C>T (p.Ala659Val) |
single nucleotide variant |
See cases [RCV002252915]|not provided [RCV003443014] |
Chr3:53192211 [GRCh38]
Chr3:53226227 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001987795] |
Chr3:53188815 [GRCh38]
Chr3:53222831 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.902G>T (p.Arg301Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002042565] |
Chr3:53185617 [GRCh38]
Chr3:53219633 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.2016C>A (p.His672Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002009330]|Inborn genetic diseases [RCV004956127] |
Chr3:53192251 [GRCh38]
Chr3:53226267 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.56C>T (p.Ala19Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001971098] |
Chr3:53178478 [GRCh38]
Chr3:53212494 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.340G>C (p.Val114Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001914117] |
Chr3:53181231 [GRCh38]
Chr3:53215247 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.394C>T (p.Arg132Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002045245] |
Chr3:53181461 [GRCh38]
Chr3:53215477 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1942G>A (p.Asp648Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001863406] |
Chr3:53192177 [GRCh38]
Chr3:53226193 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1847T>G (p.Leu616Trp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001863557] |
Chr3:53189976 [GRCh38]
Chr3:53223992 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.787+4C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002043111] |
Chr3:53183585 [GRCh38]
Chr3:53217601 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.446A>G (p.Lys149Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001926781] |
Chr3:53181513 [GRCh38]
Chr3:53215529 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.567C>T (p.Cys189=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001912561] |
Chr3:53181728 [GRCh38]
Chr3:53215744 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.405C>G (p.Asp135Glu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001986536] |
Chr3:53181472 [GRCh38]
Chr3:53215488 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| GRCh37/hg19 3p21.1(chr3:52968525-53450333) |
copy number gain |
not specified [RCV002053351] |
Chr3:52968525..53450333 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1501G>T (p.Gly501Trp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002044224] |
Chr3:53188805 [GRCh38]
Chr3:53222821 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002007693] |
Chr3:53179656 [GRCh38]
Chr3:53213672 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.631A>T (p.Thr211Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001909086] |
Chr3:53183180 [GRCh38]
Chr3:53217196 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.932G>A (p.Gly311Glu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002042736] |
Chr3:53185647 [GRCh38]
Chr3:53219663 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001927589] |
Chr3:53178466 [GRCh38]
Chr3:53212482 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1491G>T (p.Glu497Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001984981] |
Chr3:53188795 [GRCh38]
Chr3:53222811 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.442A>G (p.Ile148Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001909676] |
Chr3:53181509 [GRCh38]
Chr3:53215525 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.820G>A (p.Glu274Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001985537] |
Chr3:53184906 [GRCh38]
Chr3:53218922 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.892G>A (p.Ala298Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002002033] |
Chr3:53185607 [GRCh38]
Chr3:53219623 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1439T>C (p.Leu480Pro) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001966482] |
Chr3:53188743 [GRCh38]
Chr3:53222759 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1871T>C (p.Val624Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002041721] |
Chr3:53190000 [GRCh38]
Chr3:53224016 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002019785] |
Chr3:53178486 [GRCh38]
Chr3:53212502 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.377-7T>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002038111] |
Chr3:53181437 [GRCh38]
Chr3:53215453 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del) |
microsatellite |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002050794] |
Chr3:53179598..53179600 [GRCh38]
Chr3:53213614..53213616 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.671G>A (p.Arg224His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001877853] |
Chr3:53183465 [GRCh38]
Chr3:53217481 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.657+6C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001940921] |
Chr3:53183212 [GRCh38]
Chr3:53217228 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.376G>T (p.Asp126Tyr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001878535] |
Chr3:53181267 [GRCh38]
Chr3:53215283 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.2030G>T (p.Ter677Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001976713] |
Chr3:53192265 [GRCh38]
Chr3:53226281 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.250G>T (p.Val84Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001902023] |
Chr3:53179711 [GRCh38]
Chr3:53213727 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.2026G>T (p.Asp676Tyr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001932987] |
Chr3:53192261 [GRCh38]
Chr3:53226277 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.572-6T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002030155] |
Chr3:53183115 [GRCh38]
Chr3:53217131 [GRCh37]
Chr3:3p21.1 |
likely benign|uncertain significance |
| NM_006254.4(PRKCD):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001918870] |
Chr3:53178427 [GRCh38]
Chr3:53212443 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.433C>T (p.Arg145Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001991031] |
Chr3:53181500 [GRCh38]
Chr3:53215516 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1744C>T (p.Leu582Phe) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002017685] |
Chr3:53189873 [GRCh38]
Chr3:53223889 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.421A>G (p.Thr141Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001977217] |
Chr3:53181488 [GRCh38]
Chr3:53215504 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001960700] |
Chr3:53179746 [GRCh38]
Chr3:53213762 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.581C>T (p.Ala194Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002049048] |
Chr3:53183130 [GRCh38]
Chr3:53217146 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1353-8_1353-7del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002010042] |
Chr3:53187332..53187333 [GRCh38]
Chr3:53221348..53221349 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001920172] |
Chr3:53179601 [GRCh38]
Chr3:53213617 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1702C>T (p.Pro568Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001978282] |
Chr3:53189205 [GRCh38]
Chr3:53223221 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001939509]|not provided [RCV002269381] |
Chr3:53179776 [GRCh38]
Chr3:53213792 [GRCh37]
Chr3:3p21.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006254.4(PRKCD):c.646C>T (p.Arg216Trp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002017174] |
Chr3:53183195 [GRCh38]
Chr3:53217211 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1300dup (p.Asp434fs) |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001972817] |
Chr3:53186636..53186637 [GRCh38]
Chr3:53220652..53220653 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.544C>T (p.Leu182Phe) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001905716] |
Chr3:53181705 [GRCh38]
Chr3:53215721 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.578A>G (p.Asn193Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001898914] |
Chr3:53183127 [GRCh38]
Chr3:53217143 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.793G>A (p.Gly265Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001919350] |
Chr3:53184879 [GRCh38]
Chr3:53218895 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1722G>T (p.Glu574Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002028970] |
Chr3:53189225 [GRCh38]
Chr3:53223241 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.376+6A>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001922621] |
Chr3:53181273 [GRCh38]
Chr3:53215289 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.2003C>A (p.Pro668His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001954793]|Inborn genetic diseases [RCV004044200] |
Chr3:53192238 [GRCh38]
Chr3:53226254 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1376G>A (p.Cys459Tyr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001956642] |
Chr3:53187363 [GRCh38]
Chr3:53221379 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.539+10G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002185741] |
Chr3:53181616 [GRCh38]
Chr3:53215632 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.376+9T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002206881] |
Chr3:53181276 [GRCh38]
Chr3:53215292 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.889-20C>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002091195] |
Chr3:53185584 [GRCh38]
Chr3:53219600 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.116-17del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002084957] |
Chr3:53179560 [GRCh38]
Chr3:53213576 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+19G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002105204] |
Chr3:53179795 [GRCh38]
Chr3:53213811 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.894C>T (p.Ala298=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002090369] |
Chr3:53185609 [GRCh38]
Chr3:53219625 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.225G>C (p.Arg75=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002187810] |
Chr3:53179686 [GRCh38]
Chr3:53213702 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1458C>T (p.His486=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002109130] |
Chr3:53188762 [GRCh38]
Chr3:53222778 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.384A>G (p.Lys128=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002090644] |
Chr3:53181451 [GRCh38]
Chr3:53215467 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.615C>T (p.Ile205=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002125330] |
Chr3:53183164 [GRCh38]
Chr3:53217180 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1743+29_1743+43del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002111882] |
Chr3:53189261..53189275 [GRCh38]
Chr3:53223277..53223291 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.539+13C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002188696] |
Chr3:53181619 [GRCh38]
Chr3:53215635 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1113A>G (p.Arg371=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002210185] |
Chr3:53186193 [GRCh38]
Chr3:53220209 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1554+13C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002126756] |
Chr3:53188871 [GRCh38]
Chr3:53222887 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.115+9G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002205935] |
Chr3:53178546 [GRCh38]
Chr3:53212562 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1743+14G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002113760] |
Chr3:53189260 [GRCh38]
Chr3:53223276 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1353-20T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002093033] |
Chr3:53187320 [GRCh38]
Chr3:53221336 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.6G>A (p.Ala2=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002193245] |
Chr3:53178428 [GRCh38]
Chr3:53212444 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1743+29_1743+38del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002094563] |
Chr3:53189266..53189275 [GRCh38]
Chr3:53223282..53223291 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+7G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002211502] |
Chr3:53179783 [GRCh38]
Chr3:53213799 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.597A>G (p.Lys199=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002077712] |
Chr3:53183146 [GRCh38]
Chr3:53217162 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1554+7C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002197524] |
Chr3:53188865 [GRCh38]
Chr3:53222881 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.986-7C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002114966] |
Chr3:53185920 [GRCh38]
Chr3:53219936 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.377-12C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002113624] |
Chr3:53181432 [GRCh38]
Chr3:53215448 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1617C>T (p.Tyr539=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002187492] |
Chr3:53189120 [GRCh38]
Chr3:53223136 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1029G>A (p.Lys343=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002146576] |
Chr3:53185970 [GRCh38]
Chr3:53219986 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.115+14C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002116211] |
Chr3:53178551 [GRCh38]
Chr3:53212567 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.750G>A (p.Leu250=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002077526] |
Chr3:53183544 [GRCh38]
Chr3:53217560 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1087-12T>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002174072] |
Chr3:53186155 [GRCh38]
Chr3:53220171 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.435C>T (p.Arg145=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002080839] |
Chr3:53181502 [GRCh38]
Chr3:53215518 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.271C>T (p.Leu91=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002097696] |
Chr3:53179732 [GRCh38]
Chr3:53213748 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1555-17G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002214583] |
Chr3:53189041 [GRCh38]
Chr3:53223057 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1201C>T (p.Leu401=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002115242] |
Chr3:53186281 [GRCh38]
Chr3:53220297 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.678C>T (p.Asn226=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002076287] |
Chr3:53183472 [GRCh38]
Chr3:53217488 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1167C>T (p.Asp389=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002096673] |
Chr3:53186247 [GRCh38]
Chr3:53220263 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1555-5G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002096865] |
Chr3:53189053 [GRCh38]
Chr3:53223069 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.90G>C (p.Val30=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002098194] |
Chr3:53178512 [GRCh38]
Chr3:53212528 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.90G>A (p.Val30=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002204124] |
Chr3:53178512 [GRCh38]
Chr3:53212528 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.846C>T (p.Ile282=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002138071] |
Chr3:53184932 [GRCh38]
Chr3:53218948 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.889-20C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002136412] |
Chr3:53185584 [GRCh38]
Chr3:53219600 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1554+8G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002158742] |
Chr3:53188866 [GRCh38]
Chr3:53222882 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.571+15A>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002184411] |
Chr3:53181747 [GRCh38]
Chr3:53215763 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1260+16G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002160343] |
Chr3:53186356 [GRCh38]
Chr3:53220372 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.636G>A (p.Ala212=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002100748] |
Chr3:53183185 [GRCh38]
Chr3:53217201 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.657+15G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002100769] |
Chr3:53183221 [GRCh38]
Chr3:53217237 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.420A>G (p.Pro140=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002155084] |
Chr3:53181487 [GRCh38]
Chr3:53215503 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.864T>C (p.Ala288=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002181930] |
Chr3:53184950 [GRCh38]
Chr3:53218966 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1353-4C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002160859] |
Chr3:53187336 [GRCh38]
Chr3:53221352 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.57C>A (p.Ala19=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002101991] |
Chr3:53178479 [GRCh38]
Chr3:53212495 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+16G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002100537] |
Chr3:53179792 [GRCh38]
Chr3:53213808 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.657+11G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002154579] |
Chr3:53183217 [GRCh38]
Chr3:53217233 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.540-18C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002139734] |
Chr3:53181683 [GRCh38]
Chr3:53215699 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.116-7G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002181212] |
Chr3:53179570 [GRCh38]
Chr3:53213586 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1206A>G (p.Thr402=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002161753] |
Chr3:53186286 [GRCh38]
Chr3:53220302 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.787+15G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002181479] |
Chr3:53183596 [GRCh38]
Chr3:53217612 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1161C>T (p.Ile387=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002180078] |
Chr3:53186241 [GRCh38]
Chr3:53220257 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1415+11G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002137221] |
Chr3:53187413 [GRCh38]
Chr3:53221429 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1086+16C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002158150] |
Chr3:53186043 [GRCh38]
Chr3:53220059 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.177C>T (p.Phe59=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002179695] |
Chr3:53179638 [GRCh38]
Chr3:53213654 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1554+12C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002203915] |
Chr3:53188870 [GRCh38]
Chr3:53222886 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.787+14C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002200701] |
Chr3:53183595 [GRCh38]
Chr3:53217611 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.376+13T>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002176567] |
Chr3:53181280 [GRCh38]
Chr3:53215296 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.189C>T (p.Ile63=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002138476] |
Chr3:53179650 [GRCh38]
Chr3:53213666 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003118067] |
Chr3:53189232 [GRCh38]
Chr3:53223248 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NC_000003.11:g.(?_52018081)_(53845433_?)del |
deletion |
not provided [RCV003105312] |
Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003130335] |
Chr3:53184904 [GRCh38]
Chr3:53218920 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.888+12C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003012155] |
Chr3:53184986 [GRCh38]
Chr3:53219002 [GRCh37]
Chr3:3p21.1 |
likely benign |
| GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3 |
copy number gain |
not provided [RCV002473863] |
Chr3:52783975..53418893 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1511G>T (p.Arg504Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002295627] |
Chr3:53188815 [GRCh38]
Chr3:53222831 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.817C>T (p.Arg273Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002687162] |
Chr3:53184903 [GRCh38]
Chr3:53218919 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1743+2T>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002863475] |
Chr3:53189248 [GRCh38]
Chr3:53223264 [GRCh37]
Chr3:3p21.1 |
likely pathogenic |
| NM_006254.4(PRKCD):c.2024A>G (p.Glu675Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002837520] |
Chr3:53192259 [GRCh38]
Chr3:53226275 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.522G>A (p.Val174=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002903818] |
Chr3:53181589 [GRCh38]
Chr3:53215605 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.119G>A (p.Arg40His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002947221]|Inborn genetic diseases [RCV004958846] |
Chr3:53179580 [GRCh38]
Chr3:53213596 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003017097] |
Chr3:53186276 [GRCh38]
Chr3:53220292 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1087-15G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002843032] |
Chr3:53186152 [GRCh38]
Chr3:53220168 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.658-9del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003016411] |
Chr3:53183439 [GRCh38]
Chr3:53217455 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003014458] |
Chr3:53188773 [GRCh38]
Chr3:53222789 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.663G>A (p.Gln221=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002775790] |
Chr3:53183457 [GRCh38]
Chr3:53217473 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1743+9C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002755456] |
Chr3:53189255 [GRCh38]
Chr3:53223271 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1047C>T (p.Phe349=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002726813] |
Chr3:53185988 [GRCh38]
Chr3:53220004 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1637C>A (p.Ser546Tyr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002837638] |
Chr3:53189140 [GRCh38]
Chr3:53223156 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1805T>C (p.Phe602Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003015979] |
Chr3:53189934 [GRCh38]
Chr3:53223950 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1292A>G (p.Asn431Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002686364] |
Chr3:53186635 [GRCh38]
Chr3:53220651 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.788-18G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002994246] |
Chr3:53184856 [GRCh38]
Chr3:53218872 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.658-19G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002731515] |
Chr3:53183433 [GRCh38]
Chr3:53217449 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1102C>A (p.Leu368Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002904452] |
Chr3:53186182 [GRCh38]
Chr3:53220198 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.681C>T (p.Ile227=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003074467] |
Chr3:53183475 [GRCh38]
Chr3:53217491 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003075318] |
Chr3:53186673 [GRCh38]
Chr3:53220689 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.788-1G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002974924] |
Chr3:53184873 [GRCh38]
Chr3:53218889 [GRCh37]
Chr3:3p21.1 |
likely pathogenic |
| NM_006254.4(PRKCD):c.87C>T (p.Ala29=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002914483] |
Chr3:53178509 [GRCh38]
Chr3:53212525 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1059G>C (p.Lys353Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003020900] |
Chr3:53186000 [GRCh38]
Chr3:53220016 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1831C>A (p.Leu611Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002785608] |
Chr3:53189960 [GRCh38]
Chr3:53223976 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003080552] |
Chr3:53186245 [GRCh38]
Chr3:53220261 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002640277] |
Chr3:53183572 [GRCh38]
Chr3:53217588 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1260+3G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003021711] |
Chr3:53186343 [GRCh38]
Chr3:53220359 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.888+19G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002761078] |
Chr3:53184993 [GRCh38]
Chr3:53219009 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003036634] |
Chr3:53179602 [GRCh38]
Chr3:53213618 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.486C>T (p.Ile162=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002909657] |
Chr3:53181553 [GRCh38]
Chr3:53215569 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003019296] |
Chr3:53183474 [GRCh38]
Chr3:53217490 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.488C>T (p.Ala163Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002796672] |
Chr3:53181555 [GRCh38]
Chr3:53215571 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.309G>A (p.Glu103=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002868067] |
Chr3:53179770 [GRCh38]
Chr3:53213786 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.316-7C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002796755] |
Chr3:53181200 [GRCh38]
Chr3:53215216 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1555-12C>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002999387] |
Chr3:53189046 [GRCh38]
Chr3:53223062 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.985+12T>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003080345] |
Chr3:53185712 [GRCh38]
Chr3:53219728 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003018335] |
Chr3:53187383 [GRCh38]
Chr3:53221399 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.250G>A (p.Val84Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002949632] |
Chr3:53179711 [GRCh38]
Chr3:53213727 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.376+12C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002952581] |
Chr3:53181279 [GRCh38]
Chr3:53215295 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1926_1927delinsAT (p.Arg643Cys) |
indel |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002926978] |
Chr3:53192161..53192162 [GRCh38]
Chr3:53226177..53226178 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1510C>A (p.Arg504=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003018836] |
Chr3:53188814 [GRCh38]
Chr3:53222830 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002619386] |
Chr3:53181456 [GRCh38]
Chr3:53215472 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.657+8T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002756755] |
Chr3:53183214 [GRCh38]
Chr3:53217230 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.187A>G (p.Ile63Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003037807] |
Chr3:53179648 [GRCh38]
Chr3:53213664 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1083G>T (p.Gly361=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003024912] |
Chr3:53186024 [GRCh38]
Chr3:53220040 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.846C>A (p.Ile282=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002711134] |
Chr3:53184932 [GRCh38]
Chr3:53218948 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.787+3G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002959045] |
Chr3:53183584 [GRCh38]
Chr3:53217600 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1182del (p.Met395fs) |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003057564] |
Chr3:53186261 [GRCh38]
Chr3:53220277 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.1893T>G (p.Ser631Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002828510] |
Chr3:53192128 [GRCh38]
Chr3:53226144 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1743+10CTGGG[5] |
microsatellite |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002574510] |
Chr3:53189255..53189256 [GRCh38]
Chr3:53223271..53223272 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1034A>T (p.Asn345Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002957929] |
Chr3:53185975 [GRCh38]
Chr3:53219991 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002932875] |
Chr3:53179727 [GRCh38]
Chr3:53213743 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.975G>A (p.Glu325=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002872045] |
Chr3:53185690 [GRCh38]
Chr3:53219706 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.422C>T (p.Thr141Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002890908] |
Chr3:53181489 [GRCh38]
Chr3:53215505 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1602C>T (p.Phe534=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003084295] |
Chr3:53189105 [GRCh38]
Chr3:53223121 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+17C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003023130] |
Chr3:53179793 [GRCh38]
Chr3:53213809 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003041144]|Inborn genetic diseases [RCV004070113] |
Chr3:53185982 [GRCh38]
Chr3:53219998 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.788-19C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003084661] |
Chr3:53184855 [GRCh38]
Chr3:53218871 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1170C>T (p.Asp390=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002644092] |
Chr3:53186250 [GRCh38]
Chr3:53220266 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1744-18G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002667250] |
Chr3:53189855 [GRCh38]
Chr3:53223871 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1261-14C>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002572383] |
Chr3:53186590 [GRCh38]
Chr3:53220606 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1240A>C (p.Ile414Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002801303] |
Chr3:53186320 [GRCh38]
Chr3:53220336 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1233C>T (p.Thr411=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002851014] |
Chr3:53186313 [GRCh38]
Chr3:53220329 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.474C>T (p.Asn158=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002676519] |
Chr3:53181541 [GRCh38]
Chr3:53215557 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003047547]|not provided [RCV004790322] |
Chr3:53178452 [GRCh38]
Chr3:53212468 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1872+11C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002647838] |
Chr3:53190012 [GRCh38]
Chr3:53224028 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1797C>G (p.Ile599Met) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002676563] |
Chr3:53189926 [GRCh38]
Chr3:53223942 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1017G>A (p.Glu339=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002938104] |
Chr3:53185958 [GRCh38]
Chr3:53219974 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.657+14C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003062903] |
Chr3:53183220 [GRCh38]
Chr3:53217236 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.576T>C (p.Cys192=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002833313] |
Chr3:53183125 [GRCh38]
Chr3:53217141 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1510C>G (p.Arg504Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002748350] |
Chr3:53188814 [GRCh38]
Chr3:53222830 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.889-11T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002716197] |
Chr3:53185593 [GRCh38]
Chr3:53219609 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.939T>C (p.Tyr313=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002716067] |
Chr3:53185654 [GRCh38]
Chr3:53219670 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.889-4C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002834786] |
Chr3:53185600 [GRCh38]
Chr3:53219616 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.787+15G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002628716] |
Chr3:53183596 [GRCh38]
Chr3:53217612 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1433A>G (p.Asn478Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002806564] |
Chr3:53188737 [GRCh38]
Chr3:53222753 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1743+20C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003046585] |
Chr3:53189266 [GRCh38]
Chr3:53223282 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.105G>T (p.Ala35=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002962799] |
Chr3:53178527 [GRCh38]
Chr3:53212543 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002628875] |
Chr3:53186182 [GRCh38]
Chr3:53220198 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.151A>G (p.Met51Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002630440] |
Chr3:53179612 [GRCh38]
Chr3:53213628 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003063974] |
Chr3:53188805 [GRCh38]
Chr3:53222821 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.658-14A>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003063988] |
Chr3:53183438 [GRCh38]
Chr3:53217454 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1566C>T (p.Gly522=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002720740] |
Chr3:53189069 [GRCh38]
Chr3:53223085 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.339G>A (p.Lys113=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002933492] |
Chr3:53181230 [GRCh38]
Chr3:53215246 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.376+16G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002582462] |
Chr3:53181283 [GRCh38]
Chr3:53215299 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.571+7G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003067203] |
Chr3:53181739 [GRCh38]
Chr3:53215755 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1086+17G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002605933] |
Chr3:53186044 [GRCh38]
Chr3:53220060 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.985+19C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003051417] |
Chr3:53185719 [GRCh38]
Chr3:53219735 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003067740] |
Chr3:53179748 [GRCh38]
Chr3:53213764 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.658-11C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003093310] |
Chr3:53183441 [GRCh38]
Chr3:53217457 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.201C>T (p.Arg67=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002610123] |
Chr3:53179662 [GRCh38]
Chr3:53213678 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1980C>T (p.Phe660=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002633798]|not provided [RCV003883889] |
Chr3:53192215 [GRCh38]
Chr3:53226231 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1415+4C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003072300] |
Chr3:53187406 [GRCh38]
Chr3:53221422 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1118A>G (p.Glu373Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002610061] |
Chr3:53186198 [GRCh38]
Chr3:53220214 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.634G>A (p.Ala212Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003173476] |
Chr3:53183183 [GRCh38]
Chr3:53217199 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.93G>C (p.Lys31Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003190549] |
Chr3:53178515 [GRCh38]
Chr3:53212531 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.995G>A (p.Gly332Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003212158] |
Chr3:53185936 [GRCh38]
Chr3:53219952 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.315+30_315+31insCGTG |
insertion |
not specified [RCV003397150] |
Chr3:53179803..53179804 [GRCh38]
Chr3:53213819..53213820 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+38_315+39insGGTG |
insertion |
not specified [RCV003489006] |
Chr3:53179811..53179812 [GRCh38]
Chr3:53213827..53213828 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+24GT[11] |
microsatellite |
not specified [RCV003397071] |
Chr3:53179799..53179800 [GRCh38]
Chr3:53213815..53213816 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+34_315+35insCGTG |
insertion |
not specified [RCV003397152] |
Chr3:53179807..53179808 [GRCh38]
Chr3:53213823..53213824 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+32_315+33insGGTG |
insertion |
not specified [RCV003397091] |
Chr3:53179805..53179806 [GRCh38]
Chr3:53213821..53213822 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+30_315+31insGGTG |
insertion |
not specified [RCV003397090] |
Chr3:53179803..53179804 [GRCh38]
Chr3:53213819..53213820 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+40_315+41insCGTG |
insertion |
not specified [RCV003397154] |
Chr3:53179813..53179814 [GRCh38]
Chr3:53213829..53213830 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+34_315+35insGGTG |
insertion |
not specified [RCV003397131] |
Chr3:53179807..53179808 [GRCh38]
Chr3:53213823..53213824 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+32_315+33insCGTG |
insertion |
not specified [RCV003397151] |
Chr3:53179805..53179806 [GRCh38]
Chr3:53213821..53213822 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+36_315+37insCGTG |
insertion |
not specified [RCV003397153] |
Chr3:53179809..53179810 [GRCh38]
Chr3:53213825..53213826 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+42_315+43insGGTG |
insertion |
not specified [RCV003397155] |
Chr3:53179815..53179816 [GRCh38]
Chr3:53213831..53213832 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+37_315+38insTTGT |
insertion |
not specified [RCV003397161] |
Chr3:53179810..53179811 [GRCh38]
Chr3:53213826..53213827 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1744-20G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877637] |
Chr3:53189853 [GRCh38]
Chr3:53223869 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1881C>T (p.Pro627=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877107] |
Chr3:53192116 [GRCh38]
Chr3:53226132 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.360T>C (p.Tyr120=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003827934] |
Chr3:53181251 [GRCh38]
Chr3:53215267 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+28_315+29insGGTG |
insertion |
not specified [RCV003489014] |
Chr3:53179801..53179802 [GRCh38]
Chr3:53213817..53213818 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.315+36_315+37insGGTG |
insertion |
not specified [RCV003489090] |
Chr3:53179809..53179810 [GRCh38]
Chr3:53213825..53213826 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.423G>A (p.Thr141=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877983] |
Chr3:53181490 [GRCh38]
Chr3:53215506 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1331G>A (p.Arg444His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003828055] |
Chr3:53186674 [GRCh38]
Chr3:53220690 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1641C>G (p.Pro547=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877990] |
Chr3:53189144 [GRCh38]
Chr3:53223160 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+43_315+44insGTCT |
insertion |
not specified [RCV003488892] |
Chr3:53179818..53179819 [GRCh38]
Chr3:53213834..53213835 [GRCh37]
Chr3:3p21.1 |
benign |
| NM_006254.4(PRKCD):c.1080C>T (p.Phe360=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745137] |
Chr3:53186021 [GRCh38]
Chr3:53220037 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.171G>A (p.Ser57=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745071] |
Chr3:53179632 [GRCh38]
Chr3:53213648 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.571+1G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745147] |
Chr3:53181733 [GRCh38]
Chr3:53215749 [GRCh37]
Chr3:3p21.1 |
likely pathogenic |
| NM_006254.4(PRKCD):c.1164C>T (p.Asp388=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743502] |
Chr3:53186244 [GRCh38]
Chr3:53220260 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.540-17T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003744162] |
Chr3:53181684 [GRCh38]
Chr3:53215700 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1332C>A (p.Arg444=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003744248] |
Chr3:53186675 [GRCh38]
Chr3:53220691 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1872+13G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745267] |
Chr3:53190014 [GRCh38]
Chr3:53224030 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1917C>T (p.Asn639=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003813970] |
Chr3:53192152 [GRCh38]
Chr3:53226168 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1086+20C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743325] |
Chr3:53186047 [GRCh38]
Chr3:53220063 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.571+15A>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745698] |
Chr3:53181747 [GRCh38]
Chr3:53215763 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743404] |
Chr3:53181724 [GRCh38]
Chr3:53215740 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.788-3C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743460] |
Chr3:53184871 [GRCh38]
Chr3:53218887 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.540-9G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745789] |
Chr3:53181692 [GRCh38]
Chr3:53215708 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1053C>T (p.Phe351=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583296] |
Chr3:53185994 [GRCh38]
Chr3:53220010 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.657+10G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745829] |
Chr3:53183216 [GRCh38]
Chr3:53217232 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.571+17G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583261] |
Chr3:53181749 [GRCh38]
Chr3:53215765 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.69G>A (p.Ala23=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743080] |
Chr3:53178491 [GRCh38]
Chr3:53212507 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.376+15G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583953] |
Chr3:53181282 [GRCh38]
Chr3:53215298 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.343T>C (p.Leu115=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583620] |
Chr3:53181234 [GRCh38]
Chr3:53215250 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+8G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743403] |
Chr3:53179784 [GRCh38]
Chr3:53213800 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.771G>A (p.Gln257=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583351] |
Chr3:53183565 [GRCh38]
Chr3:53217581 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+13C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003817647] |
Chr3:53179789 [GRCh38]
Chr3:53213805 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1873-20C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003744080] |
Chr3:53192088 [GRCh38]
Chr3:53226104 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1415+5G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583430] |
Chr3:53187407 [GRCh38]
Chr3:53221423 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.116-17G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743131] |
Chr3:53179560 [GRCh38]
Chr3:53213576 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1077C>T (p.Ser359=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003838076] |
Chr3:53186018 [GRCh38]
Chr3:53220034 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1944C>T (p.Asp648=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583556] |
Chr3:53192179 [GRCh38]
Chr3:53226195 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1555-14C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743228] |
Chr3:53189044 [GRCh38]
Chr3:53223060 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1353-16C>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003832982] |
Chr3:53187324 [GRCh38]
Chr3:53221340 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1086+16_1086+26del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743328] |
Chr3:53186041..53186051 [GRCh38]
Chr3:53220057..53220067 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1873-19C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583588] |
Chr3:53192089 [GRCh38]
Chr3:53226105 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1087-15G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745266] |
Chr3:53186152 [GRCh38]
Chr3:53220168 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.2001C>T (p.Asn667=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745743] |
Chr3:53192236 [GRCh38]
Chr3:53226252 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.986-12T>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583245] |
Chr3:53185915 [GRCh38]
Chr3:53219931 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1515C>T (p.Ala505=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745828] |
Chr3:53188819 [GRCh38]
Chr3:53222835 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.804G>A (p.Val268=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745875] |
Chr3:53184890 [GRCh38]
Chr3:53218906 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583903] |
Chr3:53185966 [GRCh38]
Chr3:53219982 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583433] |
Chr3:53186260 [GRCh38]
Chr3:53220276 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743412] |
Chr3:53186293 [GRCh38]
Chr3:53220309 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1569G>A (p.Leu523=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745814] |
Chr3:53189072 [GRCh38]
Chr3:53223088 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1554+14C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745872] |
Chr3:53188872 [GRCh38]
Chr3:53222888 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.618C>T (p.Gly206=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003813734] |
Chr3:53183167 [GRCh38]
Chr3:53217183 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1353-11C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583558] |
Chr3:53187329 [GRCh38]
Chr3:53221345 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1087-16C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003866274] |
Chr3:53186151 [GRCh38]
Chr3:53220167 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.788-12C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003843411] |
Chr3:53184862 [GRCh38]
Chr3:53218878 [GRCh37]
Chr3:3p21.1 |
likely benign |
| GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 |
copy number loss |
not specified [RCV003986409] |
Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2 |
pathogenic |
| NM_006254.4(PRKCD):c.315+18C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003842396] |
Chr3:53179794 [GRCh38]
Chr3:53213810 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.539+16G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745952] |
Chr3:53181622 [GRCh38]
Chr3:53215638 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.985+18G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003853129] |
Chr3:53185718 [GRCh38]
Chr3:53219734 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1260+19_1260+34dup |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003857181] |
Chr3:53186354..53186355 [GRCh38]
Chr3:53220370..53220371 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1776A>C (p.Gly592=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003821055] |
Chr3:53189905 [GRCh38]
Chr3:53223921 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.660C>T (p.Phe220=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003866635] |
Chr3:53183454 [GRCh38]
Chr3:53217470 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.332A>G (p.Gln111Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004515141] |
Chr3:53181223 [GRCh38]
Chr3:53215239 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.348G>A (p.Met116Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004515142] |
Chr3:53181239 [GRCh38]
Chr3:53215255 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.965T>G (p.Val322Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004515144] |
Chr3:53185680 [GRCh38]
Chr3:53219696 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1614G>A (p.Leu538=) |
single nucleotide variant |
PRKCD-related disorder [RCV003983574] |
Chr3:53189117 [GRCh38]
Chr3:53223133 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.413A>G (p.Lys138Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005104841]|Inborn genetic diseases [RCV004515143] |
Chr3:53181480 [GRCh38]
Chr3:53215496 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.495C>T (p.Phe165=) |
single nucleotide variant |
PRKCD-related disorder [RCV003947349] |
Chr3:53181562 [GRCh38]
Chr3:53215578 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.682G>A (p.Asp228Asn) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004557904] |
Chr3:53183476 [GRCh38]
Chr3:53217492 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1781C>T (p.Thr594Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004648655] |
Chr3:53189910 [GRCh38]
Chr3:53223926 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1441_1442delinsTC (p.Leu481Ser) |
indel |
not provided [RCV004727556] |
Chr3:53188745..53188746 [GRCh38]
Chr3:53222761..53222762 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.880G>A (p.Val294Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004954677] |
Chr3:53184966 [GRCh38]
Chr3:53218982 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| GRCh37/hg19 3p21.2-21.1(chr3:51962412-53969609)x1 |
copy number loss |
not provided [RCV004819336] |
Chr3:51962412..53969609 [GRCh37]
Chr3:3p21.2-21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.1665A>C (p.Glu555Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004954676] |
Chr3:53189168 [GRCh38]
Chr3:53223184 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.967G>A (p.Ala323Thr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005124458] |
Chr3:53185682 [GRCh38]
Chr3:53219698 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.657+1G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005128450] |
Chr3:53183207 [GRCh38]
Chr3:53217223 [GRCh37]
Chr3:3p21.1 |
likely pathogenic |
| NM_006254.4(PRKCD):c.1408A>G (p.Ile470Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005108042] |
Chr3:53187395 [GRCh38]
Chr3:53221411 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.889-7T>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005142501] |
Chr3:53185597 [GRCh38]
Chr3:53219613 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1542T>G (p.Tyr514Ter) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005125766] |
Chr3:53188846 [GRCh38]
Chr3:53222862 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.1872+15C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005142372] |
Chr3:53190016 [GRCh38]
Chr3:53224032 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.2016C>T (p.His672=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005068116] |
Chr3:53192251 [GRCh38]
Chr3:53226267 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.8C>G (p.Pro3Arg) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005065766] |
Chr3:53178430 [GRCh38]
Chr3:53212446 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1515C>G (p.Ala505=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005138919] |
Chr3:53188819 [GRCh38]
Chr3:53222835 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.787+16C>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005119276] |
Chr3:53183597 [GRCh38]
Chr3:53217613 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.788-11C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005085955] |
Chr3:53184863 [GRCh38]
Chr3:53218879 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.678_701dup (p.Phe233_Lys234insAsnIleAspMetProHisArgPhe) |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005118100] |
Chr3:53183463..53183464 [GRCh38]
Chr3:53217479..53217480 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.116-7G>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005064341] |
Chr3:53179570 [GRCh38]
Chr3:53213586 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1087-16del |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005121940] |
Chr3:53186149 [GRCh38]
Chr3:53220165 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1873-12C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005114312] |
Chr3:53192096 [GRCh38]
Chr3:53226112 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1632C>T (p.Gly544=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005105449] |
Chr3:53189135 [GRCh38]
Chr3:53223151 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.888+20A>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005196547] |
Chr3:53184994 [GRCh38]
Chr3:53219010 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.183C>T (p.Ala61=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005077792] |
Chr3:53179644 [GRCh38]
Chr3:53213660 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1492A>G (p.Asn498Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005198528] |
Chr3:53188796 [GRCh38]
Chr3:53222812 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1087-16C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005151139] |
Chr3:53186151 [GRCh38]
Chr3:53220167 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.417C>T (p.Phe139=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005176936] |
Chr3:53181484 [GRCh38]
Chr3:53215500 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1264C>T (p.His422Tyr) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005200847] |
Chr3:53186607 [GRCh38]
Chr3:53220623 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.888+11G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005186810] |
Chr3:53184985 [GRCh38]
Chr3:53219001 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.654T>C (p.Thr218=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005158228] |
Chr3:53183203 [GRCh38]
Chr3:53217219 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.316-4dup |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005145063] |
Chr3:53181201..53181202 [GRCh38]
Chr3:53215217..53215218 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.546C>A (p.Leu182=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005146809] |
Chr3:53181707 [GRCh38]
Chr3:53215723 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.480G>A (p.Glu160=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005192321] |
Chr3:53181547 [GRCh38]
Chr3:53215563 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.540-20G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005165303] |
Chr3:53181681 [GRCh38]
Chr3:53215697 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.115+20_115+21delinsTG |
indel |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005191477] |
Chr3:53178557..53178558 [GRCh38]
Chr3:53212573..53212574 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.115+17G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005147655] |
Chr3:53178554 [GRCh38]
Chr3:53212570 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1445A>G (p.Asp482Gly) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005170628] |
Chr3:53188749 [GRCh38]
Chr3:53222765 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1219A>C (p.Asn407His) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005199735] |
Chr3:53186299 [GRCh38]
Chr3:53220315 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1743+17G>C |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005081299] |
Chr3:53189263 [GRCh38]
Chr3:53223279 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1747T>A (p.Phe583Ile) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005203262] |
Chr3:53189876 [GRCh38]
Chr3:53223892 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.1022G>A (p.Ser341Asn) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005160964] |
Chr3:53185963 [GRCh38]
Chr3:53219979 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.316-9C>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005168752] |
Chr3:53181198 [GRCh38]
Chr3:53215214 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.315+9C>T |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005198040] |
Chr3:53179785 [GRCh38]
Chr3:53213801 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.1816A>G (p.Ile606Val) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005147566] |
Chr3:53189945 [GRCh38]
Chr3:53223961 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.114A>T (p.Thr38=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005169988] |
Chr3:53178536 [GRCh38]
Chr3:53212552 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.376+7A>G |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005162936] |
Chr3:53181274 [GRCh38]
Chr3:53215290 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.689C>T (p.Pro230Leu) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005172025] |
Chr3:53183483 [GRCh38]
Chr3:53217499 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.630C>T (p.Gly210=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005188678] |
Chr3:53183179 [GRCh38]
Chr3:53217195 [GRCh37]
Chr3:3p21.1 |
uncertain significance |
| NM_006254.4(PRKCD):c.539+11G>A |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005143672] |
Chr3:53181617 [GRCh38]
Chr3:53215633 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.138G>A (p.Gln46=) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV005159284] |
Chr3:53179599 [GRCh38]
Chr3:53213615 [GRCh37]
Chr3:3p21.1 |
likely benign |
| NM_006254.4(PRKCD):c.642del (p.Asn214fs) |
deletion |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001776309] |
Chr3:53183191 [GRCh38]
Chr3:53217207 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.571+2dup |
duplication |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001776307] |
Chr3:53181733..53181734 [GRCh38]
Chr3:53215749..53215750 [GRCh37]
Chr3:3p21.1 |
pathogenic |
| NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001776308] |
Chr3:53187371 [GRCh38]
Chr3:53221387 [GRCh37]
Chr3:3p21.1 |
pathogenic |
