| NM_001127255.2(NLRP7):c.2642+17TG[6] |
microsatellite |
Hydatidiform mole [RCV001293263] |
Chr19:54933539..54933540 [GRCh38]
Chr19:55444907..55444908 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 |
copy number gain |
See cases [RCV000050883] |
Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43 |
pathogenic |
| GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 |
copy number gain |
See cases [RCV000052925] |
Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43 |
pathogenic |
| GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 |
copy number gain |
See cases [RCV000052926] |
Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43 |
pathogenic |
| GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 |
copy number gain |
See cases [RCV000052914] |
Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43 |
pathogenic |
| GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 |
copy number gain |
See cases [RCV000052915] |
Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43 |
pathogenic |
| NM_001127255.2(NLRP7):c.2695C>T (p.Leu899Phe) |
single nucleotide variant |
Hydatidiform mole [RCV001293265] |
Chr19:54930614 [GRCh38]
Chr19:55441982 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 |
copy number gain |
See cases [RCV000134174] |
Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43 |
pathogenic |
| GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 |
copy number gain |
See cases [RCV000134139] |
Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43 |
pathogenic |
| GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 |
copy number gain |
See cases [RCV000135843] |
Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43 |
pathogenic |
| GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3 |
copy number gain |
See cases [RCV000137053] |
Chr19:55028722..55683018 [GRCh37]
Chr19:59720534..60374830 [NCBI36]
Chr19:19q13.42 |
uncertain significance |
| GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 |
copy number gain |
See cases [RCV000142008] |
Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43 |
pathogenic |
| NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000001654] |
Chr19:54938095 [GRCh38]
Chr19:55449463 [GRCh37]
Chr19:19q13.42 |
pathogenic |
| NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000001658] |
Chr19:54938095 [GRCh38]
Chr19:55449463 [GRCh37]
Chr19:19q13.42 |
pathogenic |
| NM_001127255.1(NLRP7):c.*374G>A |
single nucleotide variant |
not provided [RCV000115048] |
Chr19:54923366 [GRCh38]
Chr19:55434734 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000001653] |
Chr19:54938096 [GRCh38]
Chr19:55449464 [GRCh37]
Chr19:19q13.42 |
pathogenic |
| NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000001655] |
Chr19:54930571 [GRCh38]
Chr19:55441939 [GRCh37]
Chr19:19q13.42 |
pathogenic|likely pathogenic |
| NM_001127255.1(NLRP7):c.1984C>T (p.Arg662Cys) |
single nucleotide variant |
Malignant melanoma [RCV000063634] |
Chr19:54938189 [GRCh38]
Chr19:55449557 [GRCh37]
Chr19:60141369 [NCBI36]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.-39-386_2129+266dup |
duplication |
Hydatidiform mole, recurrent, 1 [RCV000083966] |
Chr19:54937777..54937778 [GRCh38]
Chr19:55449145..55449146 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.1970A>T (p.Asp657Val) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083984] |
Chr19:54938203 [GRCh38]
Chr19:55449571 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2018C>G (p.Ser673Ter) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083985] |
Chr19:54938155 [GRCh38]
Chr19:55449523 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.1(NLRP7):c.2030delT (p.Leu677Profs) |
deletion |
Hydatidiform mole [RCV000083986] |
Chr19:54938143 [GRCh38]
Chr19:55449511 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2094C>T (p.His698=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083987]|not provided [RCV000953390]|not specified [RCV000339188] |
Chr19:54938079 [GRCh38]
Chr19:55449447 [GRCh37]
Chr19:19q13.42 |
benign|likely benign|uncertain significance|not provided |
| NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083988]|not provided [RCV001701745]|not specified [RCV000281796] |
Chr19:54938078 [GRCh38]
Chr19:55449446 [GRCh37]
Chr19:19q13.42 |
benign|likely benign|uncertain significance|not provided |
| NM_001127255.2(NLRP7):c.2101C>T (p.Arg701Cys) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083989] |
Chr19:54938072 [GRCh38]
Chr19:55449440 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2129+214C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083990] |
Chr19:54937830 [GRCh38]
Chr19:55449198 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2129+313C>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083991] |
Chr19:54937731 [GRCh38]
Chr19:55449099 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2129+38G>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083992] |
Chr19:54938006 [GRCh38]
Chr19:55449374 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2129+399G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083993] |
Chr19:54937645 [GRCh38]
Chr19:55449013 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2129+432T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083994] |
Chr19:54937612 [GRCh38]
Chr19:55448980 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2129+451C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083995] |
Chr19:54937593 [GRCh38]
Chr19:55448961 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2130-304C>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083996] |
Chr19:54936735 [GRCh38]
Chr19:55448103 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2130-718G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083997] |
Chr19:54937149 [GRCh38]
Chr19:55448517 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2146C>G (p.Pro716Ala) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000083998] |
Chr19:54936415 [GRCh38]
Chr19:55447783 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2144delC (p.Pro716Leufs) |
deletion |
Hydatidiform mole, recurrent, 1 [RCV000083999] |
Chr19:54936414 [GRCh38]
Chr19:55447782 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084000]|not provided [RCV003415856] |
Chr19:54936405 [GRCh38]
Chr19:55447773 [GRCh37]
Chr19:19q13.42 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084001] |
Chr19:54936400 [GRCh38]
Chr19:55447768 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2165A>G (p.Asp722Gly) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084002] |
Chr19:54936396 [GRCh38]
Chr19:55447764 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084003]|not provided [RCV001061628] |
Chr19:54936313 [GRCh38]
Chr19:55447681 [GRCh37]
Chr19:19q13.42 |
pathogenic|not provided |
| NM_001127255.2(NLRP7):c.2282G>A (p.Cys761Tyr) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084004] |
Chr19:54936279 [GRCh38]
Chr19:55447647 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2300+128C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084005] |
Chr19:54936133 [GRCh38]
Chr19:55447501 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2300+322C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084006] |
Chr19:54935939 [GRCh38]
Chr19:55447307 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2300+331A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084007] |
Chr19:54935930 [GRCh38]
Chr19:55447298 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2300+47A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084008] |
Chr19:54936214 [GRCh38]
Chr19:55447582 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2334G>A (p.Trp778Ter) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084009] |
Chr19:54934626 [GRCh38]
Chr19:55445994 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.1(NLRP7):c.2471+1G>A |
single nucleotide variant |
Hydatidiform mole [RCV000084010] |
Chr19:54934488 [GRCh38]
Chr19:55445856 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2471+81_2471+82insG |
insertion |
Hydatidiform mole, recurrent, 1 [RCV000084011] |
Chr19:54934407..54934408 [GRCh38]
Chr19:55445775..55445776 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2472-126A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084012] |
Chr19:54933865 [GRCh38]
Chr19:55445233 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2472-181G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084013] |
Chr19:54933920 [GRCh38]
Chr19:55445288 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2642+114G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084015] |
Chr19:54933455 [GRCh38]
Chr19:55444823 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2643-1390T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084016] |
Chr19:54932056 [GRCh38]
Chr19:55443424 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2643-246T>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084017] |
Chr19:54930912 [GRCh38]
Chr19:55442280 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2643-364G>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084018] |
Chr19:54931030 [GRCh38]
Chr19:55442398 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2810+123G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084019] |
Chr19:54930376 [GRCh38]
Chr19:55441744 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2810+126T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084020] |
Chr19:54930373 [GRCh38]
Chr19:55441741 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2810+171T>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084021] |
Chr19:54930328 [GRCh38]
Chr19:55441696 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2810+224G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084022] |
Chr19:54930275 [GRCh38]
Chr19:55441643 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-25G>C |
single nucleotide variant |
Hydatidiform mole [RCV001293268]|Hydatidiform mole, recurrent, 1 [RCV000084023]|not provided [RCV004716939] |
Chr19:54927800 [GRCh38]
Chr19:55439168 [GRCh37]
Chr19:19q13.42 |
benign|not provided |
| NM_001127255.2(NLRP7):c.2810+26C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084024] |
Chr19:54930473 [GRCh38]
Chr19:55441841 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2810+2T>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084025] |
Chr19:54930497 [GRCh38]
Chr19:55441865 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2810+57T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084026] |
Chr19:54930442 [GRCh38]
Chr19:55441810 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-1214C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084027] |
Chr19:54928989 [GRCh38]
Chr19:55440357 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-135C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084028] |
Chr19:54927910 [GRCh38]
Chr19:55439278 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-178G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084029] |
Chr19:54927953 [GRCh38]
Chr19:55439321 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-228T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084030] |
Chr19:54928003 [GRCh38]
Chr19:55439371 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-312C>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084031] |
Chr19:54928087 [GRCh38]
Chr19:55439455 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-329A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084032] |
Chr19:54928104 [GRCh38]
Chr19:55439472 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-34T>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084033] |
Chr19:54927809 [GRCh38]
Chr19:55439177 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-37C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084034] |
Chr19:54927812 [GRCh38]
Chr19:55439180 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-394G>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084035] |
Chr19:54928169 [GRCh38]
Chr19:55439537 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-399A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084036] |
Chr19:54928174 [GRCh38]
Chr19:55439542 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-402C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084037] |
Chr19:54928177 [GRCh38]
Chr19:55439545 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-496T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084038] |
Chr19:54928271 [GRCh38]
Chr19:55439639 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-523C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084039] |
Chr19:54928298 [GRCh38]
Chr19:55439666 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-559A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084040] |
Chr19:54928334 [GRCh38]
Chr19:55439702 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-678C>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084041] |
Chr19:54928453 [GRCh38]
Chr19:55439821 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-695T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084042] |
Chr19:54928470 [GRCh38]
Chr19:55439838 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2891T>C (p.Leu964Pro) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084043] |
Chr19:54927695 [GRCh38]
Chr19:55439063 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2981+123T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084045] |
Chr19:54927482 [GRCh38]
Chr19:55438850 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2981+142C>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084046] |
Chr19:54927463 [GRCh38]
Chr19:55438831 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2981+29_2981+32del |
deletion |
Hydatidiform mole, recurrent, 1 [RCV000084047] |
Chr19:54927573..54927576 [GRCh38]
Chr19:55438941..55438944 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2981+33T>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084048] |
Chr19:54927572 [GRCh38]
Chr19:55438940 [GRCh37]
Chr19:19q13.42 |
not provided |
| NM_001127255.2(NLRP7):c.2811-28C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000084159] |
Chr19:54927803 [GRCh38]
Chr19:55439171 [GRCh37]
Chr19:19q13.42 |
not provided |
| NC_000019.10:g.54921427G>T |
single nucleotide variant |
Lung cancer [RCV000087827] |
Chr19:54921427 [GRCh38]
Chr19:55432795 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2030delT (p.Leu677Profs) |
deletion |
Hydatidiform mole, recurrent, 1 [RCV000034309] |
Chr19:54938143 [GRCh38]
Chr19:55449511 [GRCh37]
Chr19:19q13.42 |
pathogenic |
| NM_001127255.2(NLRP7):c.2471+1G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000001652] |
Chr19:54934488 [GRCh38]
Chr19:55445856 [GRCh37]
Chr19:19q13.42 |
pathogenic |
| GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207190] |
Chr19:54710237..55648526 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| chr19:54754752-55624113 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207291] |
Chr19:54754752..55624113 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh37/hg19 19q13.42(chr19:55392342-55574857)x3 |
copy number gain |
See cases [RCV000239846] |
Chr19:55392342..55574857 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2129+6T>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000272492]|not provided [RCV004717322] |
Chr19:54938038 [GRCh38]
Chr19:55449406 [GRCh37]
Chr19:19q13.42 |
benign|likely benign |
| NM_001127255.2(NLRP7):c.2788A>T (p.Asn930Tyr) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000278516]|not provided [RCV000278192] |
Chr19:54930521 [GRCh38]
Chr19:55441889 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh37/hg19 19q13.42(chr19:55017416-55602115)x3 |
copy number gain |
not provided [RCV000752784] |
Chr19:55017416..55602115 [GRCh37]
Chr19:19q13.42 |
benign |
| NM_001127255.2(NLRP7):c.2325G>A (p.Pro775=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000362477]|not provided [RCV004703806] |
Chr19:54934635 [GRCh38]
Chr19:55446003 [GRCh37]
Chr19:19q13.42 |
likely benign|uncertain significance |
| NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000401357]|Inborn genetic diseases [RCV002521252]|not provided [RCV004694449] |
Chr19:54923771 [GRCh38]
Chr19:55435139 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_206828.4(NLRP7):c.*180G>C |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000293742]|not provided [RCV004703805] |
Chr19:54923560 [GRCh38]
Chr19:55434928 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_206828.4(NLRP7):c.*183G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000385694] |
Chr19:54923557 [GRCh38]
Chr19:55434925 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000335956]|not provided [RCV004717320]|not specified [RCV000455047] |
Chr19:54930534 [GRCh38]
Chr19:55441902 [GRCh37]
Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001127255.2(NLRP7):c.2373G>A (p.Leu791=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000307884] |
Chr19:54934587 [GRCh38]
Chr19:55445955 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_206828.4(NLRP7):c.*5C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000336978] |
Chr19:54923735 [GRCh38]
Chr19:55435103 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000392533]|Inborn genetic diseases [RCV002521253] |
Chr19:54934576 [GRCh38]
Chr19:55445944 [GRCh37]
Chr19:19q13.42 |
likely benign|uncertain significance |
| NM_001127255.2(NLRP7):c.2750G>A (p.Arg917His) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000392541]|Inborn genetic diseases [RCV003343784] |
Chr19:54930559 [GRCh38]
Chr19:55441927 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2548C>T (p.His850Tyr) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000342920] |
Chr19:54933663 [GRCh38]
Chr19:55445031 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=) |
single nucleotide variant |
Hydatidiform mole [RCV001293264]|Hydatidiform mole, recurrent, 1 [RCV000302096]|not provided [RCV004717321]|not specified [RCV000455877] |
Chr19:54930627 [GRCh38]
Chr19:55441995 [GRCh37]
Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 19q13.42(chr19:55343039-55606944)x3 |
copy number gain |
not provided [RCV000752785] |
Chr19:55343039..55606944 [GRCh37]
Chr19:19q13.42 |
benign |
| GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 |
copy number gain |
See cases [RCV000445925] |
Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43 |
pathogenic |
| GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 |
copy number gain |
See cases [RCV000448186] |
Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
| GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3 |
copy number gain |
not provided [RCV000684091] |
Chr19:53867570..55833460 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 |
copy number gain |
not provided [RCV000684095] |
Chr19:54196216..58759679 [GRCh37]
Chr19:19q13.42-13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 |
copy number gain |
not provided [RCV000740208] |
Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43 |
pathogenic |
| NM_001127255.2(NLRP7):c.3076G>A (p.Gly1026Arg) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001132063] |
Chr19:54923778 [GRCh38]
Chr19:55435146 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001034709] |
Chr19:54934558 [GRCh38]
Chr19:55445926 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2130-2A>G |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV000778555]|not provided [RCV001379846] |
Chr19:54936433 [GRCh38]
Chr19:55447801 [GRCh37]
Chr19:19q13.42 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001127255.2(NLRP7):c.2504G>T (p.Cys835Phe) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001136435] |
Chr19:54933707 [GRCh38]
Chr19:55445075 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2250G>C (p.Leu750=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001136439] |
Chr19:54936311 [GRCh38]
Chr19:55447679 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2383C>T (p.Arg795Cys) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001136437]|NLRP7-related disorder [RCV003906249] |
Chr19:54934577 [GRCh38]
Chr19:55445945 [GRCh37]
Chr19:19q13.42 |
benign|likely benign |
| NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=) |
single nucleotide variant |
Hydatidiform mole [RCV001293266]|Hydatidiform mole, recurrent, 1 [RCV001133003]|not provided [RCV004704445] |
Chr19:54930603 [GRCh38]
Chr19:55441971 [GRCh37]
Chr19:19q13.42 |
benign|likely benign |
| GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3 |
copy number gain |
not provided [RCV001007059] |
Chr19:54701333..55536206 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2226C>T (p.Ile742=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001129452] |
Chr19:54936335 [GRCh38]
Chr19:55447703 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2154C>T (p.Thr718=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001129454] |
Chr19:54936407 [GRCh38]
Chr19:55447775 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.339G>A (p.Leu113=) |
single nucleotide variant |
not provided [RCV001200422] |
Chr19:54906791 [GRCh38]
Chr19:55418149 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.3082A>G (p.Thr1028Ala) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001132062]|not provided [RCV004704440] |
Chr19:54923772 [GRCh38]
Chr19:55435140 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.3068A>G (p.Asn1023Ser) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001132064] |
Chr19:54923786 [GRCh38]
Chr19:55435154 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs) |
insertion |
Hydatidiform mole, recurrent, 1 [RCV001030759] |
Chr19:54934639..54934640 [GRCh38]
Chr19:55446007..55446008 [GRCh37]
Chr19:19q13.42 |
likely pathogenic |
| NM_001127255.2(NLRP7):c.2201C>T (p.Thr734Met) |
single nucleotide variant |
not provided [RCV000955758] |
Chr19:54936360 [GRCh38]
Chr19:55447728 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2204A>G (p.His735Arg) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001129453] |
Chr19:54936357 [GRCh38]
Chr19:55447725 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2420T>G (p.Met807Arg) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001136436]|not provided [RCV003413944] |
Chr19:54934540 [GRCh38]
Chr19:55445908 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_206828.4(NLRP7):c.*44G>A |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001129345] |
Chr19:54923696 [GRCh38]
Chr19:55435064 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.3031G>C (p.Val1011Leu) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001132065] |
Chr19:54923823 [GRCh38]
Chr19:55435191 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2721C>T (p.Asn907=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001133002]|not provided [RCV004704444] |
Chr19:54930588 [GRCh38]
Chr19:55441956 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2361C>T (p.Ala787=) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001136438] |
Chr19:54934599 [GRCh38]
Chr19:55445967 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_206828.4(NLRP7):c.*20C>T |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001132061] |
Chr19:54923720 [GRCh38]
Chr19:55435088 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 |
copy number gain |
not provided [RCV001259948] |
Chr19:54334195..56434037 [GRCh37]
Chr19:19q13.42-13.43 |
uncertain significance |
| GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 |
copy number gain |
not provided [RCV001259944] |
Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43 |
pathogenic |
| NM_001127255.2(NLRP7):c.2811-23A>G |
single nucleotide variant |
Hydatidiform mole [RCV001293267]|not provided [RCV004717776] |
Chr19:54927798 [GRCh38]
Chr19:55439166 [GRCh37]
Chr19:19q13.42 |
benign |
| NM_001127255.2(NLRP7):c.2982-28del |
deletion |
Hydatidiform mole [RCV001293269] |
Chr19:54923900 [GRCh38]
Chr19:55435268 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2011_2012delTT (p.Phe671Glnfs) |
deletion |
Hydatidiform mole, recurrent, 1 [RCV001782532] |
Chr19:54938161..54938162 [GRCh38]
Chr19:55449529..55449530 [GRCh37]
Chr19:19q13.42 |
likely pathogenic |
| GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1 |
copy number loss |
not provided [RCV001834407] |
Chr19:55247893..56503347 [GRCh37]
Chr19:19q13.42-13.43 |
likely pathogenic |
| NM_001127255.2(NLRP7):c.2647C>T (p.Gln883Ter) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV001782533] |
Chr19:54930662 [GRCh38]
Chr19:55442030 [GRCh37]
Chr19:19q13.42 |
likely pathogenic |
| NC_000019.9:g.(?_54297303)_(55678016_?)dup |
duplication |
not provided [RCV001981426] |
Chr19:54297303..55678016 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.10A>G (p.Thr4Ala) |
single nucleotide variant |
not specified [RCV004148925] |
Chr19:54906197 [GRCh38]
Chr19:55417555 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.482C>T (p.Ser161Phe) |
single nucleotide variant |
not specified [RCV004151908] |
Chr19:54909371 [GRCh38]
Chr19:55420730 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.182A>G (p.His61Arg) |
single nucleotide variant |
not specified [RCV004119380] |
Chr19:54906634 [GRCh38]
Chr19:55417992 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2162G>T (p.Arg721Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002997099] |
Chr19:54936399 [GRCh38]
Chr19:55447767 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.644A>G (p.Glu215Gly) |
single nucleotide variant |
not specified [RCV004204094] |
Chr19:54910027 [GRCh38]
Chr19:55421387 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2105G>A (p.Ser702Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003000642] |
Chr19:54938068 [GRCh38]
Chr19:55449436 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2485C>T (p.Arg829Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002782602] |
Chr19:54933726 [GRCh38]
Chr19:55445094 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2439G>C (p.Met813Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002924278] |
Chr19:54934521 [GRCh38]
Chr19:55445889 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2803C>T (p.His935Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002660174] |
Chr19:54930506 [GRCh38]
Chr19:55441874 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2453A>G (p.His818Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002659786] |
Chr19:54934507 [GRCh38]
Chr19:55445875 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.263T>G (p.Met88Arg) |
single nucleotide variant |
not specified [RCV004148254] |
Chr19:54906715 [GRCh38]
Chr19:55418073 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2806C>A (p.Leu936Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002696757] |
Chr19:54930503 [GRCh38]
Chr19:55441871 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2654G>A (p.Cys885Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002850828] |
Chr19:54930655 [GRCh38]
Chr19:55442023 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.3030A>C (p.Glu1010Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002709928] |
Chr19:54923824 [GRCh38]
Chr19:55435192 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.271C>T (p.Arg91Cys) |
single nucleotide variant |
not specified [RCV004216428] |
Chr19:54906723 [GRCh38]
Chr19:55418081 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2155G>A (p.Ala719Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002965789] |
Chr19:54936406 [GRCh38]
Chr19:55447774 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2995G>A (p.Glu999Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002668943] |
Chr19:54923859 [GRCh38]
Chr19:55435227 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.773G>A (p.Arg258Gln) |
single nucleotide variant |
not specified [RCV004176092] |
Chr19:54912729 [GRCh38]
Chr19:55424097 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.566G>A (p.Arg189Gln) |
single nucleotide variant |
not specified [RCV004256679] |
Chr19:54909455 [GRCh38]
Chr19:55420814 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.127A>G (p.Lys43Glu) |
single nucleotide variant |
not specified [RCV004276828] |
Chr19:54906579 [GRCh38]
Chr19:55417937 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.331A>G (p.Asn111Asp) |
single nucleotide variant |
not specified [RCV004277404] |
Chr19:54906783 [GRCh38]
Chr19:55418141 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2717C>A (p.Thr906Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003309428] |
Chr19:54930592 [GRCh38]
Chr19:55441960 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV003338004] |
Chr19:54938171 [GRCh38]
Chr19:55449539 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.1976G>A (p.Arg659His) |
single nucleotide variant |
Inborn genetic diseases [RCV003378506] |
Chr19:54938197 [GRCh38]
Chr19:55449565 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2551C>G (p.Leu851Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003366699] |
Chr19:54933660 [GRCh38]
Chr19:55445028 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 |
copy number gain |
not provided [RCV003485200] |
Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43 |
likely pathogenic |
| NM_001127255.2(NLRP7):c.2808dup (p.Arg937fs) |
duplication |
NLRP7-related disorder [RCV003419146] |
Chr19:54930500..54930501 [GRCh38]
Chr19:55441868..55441869 [GRCh37]
Chr19:19q13.42 |
likely pathogenic |
| NM_001127255.2(NLRP7):c.3069T>C (p.Asn1023=) |
single nucleotide variant |
not provided [RCV003415443] |
Chr19:54923785 [GRCh38]
Chr19:55435153 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2444G>A (p.Arg815His) |
single nucleotide variant |
NLRP7-related disorder [RCV003921404]|not provided [RCV003886161] |
Chr19:54934516 [GRCh38]
Chr19:55445884 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2542C>T (p.Leu848=) |
single nucleotide variant |
NLRP7-related disorder [RCV003936779] |
Chr19:54933669 [GRCh38]
Chr19:55445037 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2364C>T (p.Asn788=) |
single nucleotide variant |
NLRP7-related disorder [RCV003952184] |
Chr19:54934596 [GRCh38]
Chr19:55445964 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2937C>T (p.Leu979=) |
single nucleotide variant |
not provided [RCV003885029] |
Chr19:54927649 [GRCh38]
Chr19:55439017 [GRCh37]
Chr19:19q13.42 |
likely benign |
| NM_001127255.2(NLRP7):c.2681A>G (p.Tyr894Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004495583] |
Chr19:54930628 [GRCh38]
Chr19:55441996 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.181C>G (p.His61Asp) |
single nucleotide variant |
not specified [RCV004484085] |
Chr19:54906633 [GRCh38]
Chr19:55417991 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.226G>C (p.Glu76Gln) |
single nucleotide variant |
not specified [RCV004484090] |
Chr19:54906678 [GRCh38]
Chr19:55418036 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.494A>G (p.Gln165Arg) |
single nucleotide variant |
not specified [RCV004484105] |
Chr19:54909383 [GRCh38]
Chr19:55420742 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.802G>T (p.Ala268Ser) |
single nucleotide variant |
not specified [RCV004484115] |
Chr19:54912758 [GRCh38]
Chr19:55424126 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.88T>G (p.Phe30Val) |
single nucleotide variant |
not specified [RCV004484117] |
Chr19:54906540 [GRCh38]
Chr19:55417898 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2585G>A (p.Gly862Glu) |
single nucleotide variant |
Hydatidiform mole, recurrent, 1 [RCV004555151] |
Chr19:54933626 [GRCh38]
Chr19:55444994 [GRCh37]
Chr19:19q13.42 |
likely pathogenic |
| NM_004829.7(NCR1):c.442A>C (p.Thr148Pro) |
single nucleotide variant |
not specified [RCV004484098] |
Chr19:54909331 [GRCh38]
Chr19:55420690 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2704G>A (p.Ala902Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004495584] |
Chr19:54930605 [GRCh38]
Chr19:55441973 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.3018G>C (p.Lys1006Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004495585] |
Chr19:54923836 [GRCh38]
Chr19:55435204 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.181C>A (p.His61Asn) |
single nucleotide variant |
not specified [RCV004641367] |
Chr19:54906633 [GRCh38]
Chr19:55417991 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2226C>G (p.Ile742Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004643838] |
Chr19:54936335 [GRCh38]
Chr19:55447703 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.764A>G (p.Asn255Ser) |
single nucleotide variant |
not specified [RCV004654583] |
Chr19:54912720 [GRCh38]
Chr19:55424088 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.426C>G (p.Phe142Leu) |
single nucleotide variant |
not specified [RCV004654584] |
Chr19:54909315 [GRCh38]
Chr19:55420674 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_004829.7(NCR1):c.533G>A (p.Gly178Asp) |
single nucleotide variant |
not specified [RCV004641368] |
Chr19:54909422 [GRCh38]
Chr19:55420781 [GRCh37]
Chr19:19q13.42 |
uncertain significance |
| NM_001127255.2(NLRP7):c.2008C>G (p.Leu670Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004647375] |
Chr19:54938165 [GRCh38]
Chr19:55449533 [GRCh37]
Chr19:19q13.42 |
likely benign |
