NM_002029.4(FPR1):c.26C>T (p.Thr9Met) |
single nucleotide variant |
Gingival disorder [RCV002231220]|not provided [RCV001703188] |
Chr19:51746969 [GRCh38] Chr19:52250222 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.348C>T (p.Ile116=) |
single nucleotide variant |
Gingival disorder [RCV002231222]|not provided [RCV004717650] |
Chr19:51746647 [GRCh38] Chr19:52249900 [GRCh37] Chr19:19q13.41 |
benign |
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_002029.3(FPR1):c.516G>A (p.Gly172=) |
single nucleotide variant |
Malignant melanoma [RCV000063611] |
Chr19:51746479 [GRCh38] Chr19:52249732 [GRCh37] Chr19:56941544 [NCBI36] Chr19:19q13.41 |
not provided |
NM_002029.4(FPR1):c.772C>T (p.Gln258Ter) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149096] |
Chr19:51746223 [GRCh38] Chr19:52249476 [GRCh37] Chr19:19q13.41 |
uncertain significance |
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 |
GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3 |
copy number gain |
See cases [RCV000138486] |
Chr19:51681235..51936423 [GRCh38] Chr19:52184488..52439676 [GRCh37] Chr19:56876300..57131488 [NCBI36] Chr19:19q13.41 |
likely benign |
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 |
copy number gain |
See cases [RCV000143450] |
Chr19:51202361..51993020 [GRCh38] Chr19:51705617..52496273 [GRCh37] Chr19:56397429..57188085 [NCBI36] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.488G>A (p.Arg163His) |
single nucleotide variant |
FPR1-related disorder [RCV003915486]|Gingival disorder [RCV002231004]|not provided [RCV004717651] |
Chr19:51746507 [GRCh38] Chr19:52249760 [GRCh37] Chr19:19q13.41 |
benign|likely benign |
GRCh37/hg19 19q13.41(chr19:52225767-52356791)x3 |
copy number gain |
not provided [RCV000752747] |
Chr19:52225767..52356791 [GRCh37] Chr19:19q13.41 |
benign |
GRCh37/hg19 19q13.41(chr19:52227916-52359169)x3 |
copy number gain |
not provided [RCV000752748] |
Chr19:52227916..52359169 [GRCh37] Chr19:19q13.41 |
benign |
GRCh37/hg19 19q13.41(chr19:52224551-52328897)x3 |
copy number gain |
See cases [RCV000447378] |
Chr19:52224551..52328897 [GRCh37] Chr19:19q13.41 |
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 |
NM_002029.4(FPR1):c.993C>T (p.Thr331=) |
single nucleotide variant |
Gingival disorder [RCV002230301]|not provided [RCV004717605]|not specified [RCV000454608] |
Chr19:51746002 [GRCh38] Chr19:52249255 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.301G>C (p.Val101Leu) |
single nucleotide variant |
Gingival disorder [RCV002230084]|not provided [RCV001824774]|not specified [RCV000455030] |
Chr19:51746694 [GRCh38] Chr19:51746694..51746695 [GRCh38] Chr19:52249947 [GRCh37] Chr19:52249947..52249948 [GRCh37] Chr19:19q13.41 |
benign|not provided |
NM_002029.4(FPR1):c.576T>G (p.Asn192Lys) |
single nucleotide variant |
Gingival disorder [RCV002230302]|not provided [RCV001618691]|not specified [RCV000455271] |
Chr19:51746419 [GRCh38] Chr19:52249672 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.32T>C (p.Ile11Thr) |
single nucleotide variant |
Gingival disorder [RCV002230304]|not provided [RCV001824775]|not specified [RCV000455423] |
Chr19:51746963 [GRCh38] Chr19:52250216 [GRCh37] Chr19:19q13.41 |
benign|not provided |
NM_002029.4(FPR1):c.546C>A (p.Pro182=) |
single nucleotide variant |
Gingival disorder [RCV002230303]|not provided [RCV001824773]|not specified [RCV000456043] |
Chr19:51746449 [GRCh38] Chr19:52249702 [GRCh37] Chr19:19q13.41 |
benign|not provided |
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala) |
single nucleotide variant |
Gingival disorder [RCV002230300]|not provided [RCV001824772]|not specified [RCV000456087] |
Chr19:51745958 [GRCh38] Chr19:52249211 [GRCh37] Chr19:19q13.41 |
benign|not provided |
NM_002029.4(FPR1):c.1037_1038delinsCA (p.Glu346Ala) |
indel |
Gingival disorder [RCV002528851] |
Chr19:51745957..51745958 [GRCh38] Chr19:52249210..52249211 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.806G>A (p.Arg269His) |
single nucleotide variant |
FPR1-related disorder [RCV003905688]|Gingival disorder [RCV002233923] |
Chr19:51746189 [GRCh38] Chr19:52249442 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.674C>T (p.Ala225Val) |
single nucleotide variant |
Gingival disorder [RCV002234399]|not specified [RCV004025395] |
Chr19:51746321 [GRCh38] Chr19:52249574 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.306T>C (p.Phe102=) |
single nucleotide variant |
Gingival disorder [RCV002231221]|not provided [RCV004717649] |
Chr19:51746689 [GRCh38] Chr19:52249942 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.827A>G (p.Tyr276Cys) |
single nucleotide variant |
Gingival disorder [RCV002234398] |
Chr19:51746168 [GRCh38] Chr19:52249421 [GRCh37] Chr19:19q13.41 |
uncertain significance |
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 |
NM_002029.4(FPR1):c.622A>T (p.Ile208Phe) |
single nucleotide variant |
not specified [RCV004310763] |
Chr19:51746373 [GRCh38] Chr19:52249626 [GRCh37] Chr19:19q13.41 |
uncertain significance |
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 |
NM_002029.4(FPR1):c.117C>T (p.Leu39=) |
single nucleotide variant |
Gingival disorder [RCV002234400]|not provided [RCV004717692] |
Chr19:51746878 [GRCh38] Chr19:52250131 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.177C>T (p.Val59=) |
single nucleotide variant |
Gingival disorder [RCV002231219]|not provided [RCV004717648] |
Chr19:51746818 [GRCh38] Chr19:52250071 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.380T>C (p.Val127Ala) |
single nucleotide variant |
not specified [RCV004298738] |
Chr19:51746615 [GRCh38] Chr19:52249868 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.289C>A (p.Leu97Met) |
single nucleotide variant |
FPR1-related disorder [RCV003935753]|Gingival disorder [RCV002233924]|not provided [RCV004717694] |
Chr19:51746706 [GRCh38] Chr19:52249959 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.645C>T (p.Ser215=) |
single nucleotide variant |
FPR1-related disorder [RCV003905689]|Gingival disorder [RCV002234401]|not provided [RCV004717693] |
Chr19:51746350 [GRCh38] Chr19:52249603 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.534T>A (p.Phe178Leu) |
single nucleotide variant |
Periodontitis [RCV000686521] |
Chr19:51746461 [GRCh38] Chr19:52249714 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.805C>T (p.Arg269Cys) |
single nucleotide variant |
Gingival disorder [RCV002233642] |
Chr19:51746190 [GRCh38] Chr19:52249443 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
Gingival disorder [RCV002233629] |
Chr19:51746586 [GRCh38] Chr19:52249839 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.934C>T (p.Leu312=) |
single nucleotide variant |
Gingival disorder [RCV002240323] |
Chr19:51746061 [GRCh38] Chr19:52249314 [GRCh37] Chr19:19q13.41 |
likely benign|uncertain significance |
GRCh37/hg19 19q13.41(chr19:52152017-52299885)x3 |
copy number gain |
not provided [RCV000752746] |
Chr19:52152017..52299885 [GRCh37] Chr19:19q13.41 |
benign |
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_002029.4(FPR1):c.705G>A (p.Lys235=) |
single nucleotide variant |
Gingival disorder [RCV002235823] |
Chr19:51746290 [GRCh38] Chr19:52249543 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.368G>A (p.Arg123His) |
single nucleotide variant |
FPR1-related disorder [RCV003928434]|Gingival disorder [RCV002235847]|not provided [RCV001529734] |
Chr19:51746627 [GRCh38] Chr19:52249880 [GRCh37] Chr19:19q13.41 |
likely benign|uncertain significance |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 |
copy number gain |
not provided [RCV001007050] |
Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
NM_002029.4(FPR1):c.952G>A (p.Ala318Thr) |
single nucleotide variant |
Gingival disorder [RCV002239335] |
Chr19:51746043 [GRCh38] Chr19:52249296 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.440T>C (p.Ile147Thr) |
single nucleotide variant |
Gingival disorder [RCV002239346]|not provided [RCV003490023] |
Chr19:51746555 [GRCh38] Chr19:52249808 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.822C>T (p.Gly274=) |
single nucleotide variant |
FPR1-related disorder [RCV003930635]|Gingival disorder [RCV002236048]|not provided [RCV004717727] |
Chr19:51746173 [GRCh38] Chr19:52249426 [GRCh37] Chr19:19q13.41 |
benign|likely benign |
NM_002029.4(FPR1):c.582C>T (p.Ala194=) |
single nucleotide variant |
Gingival disorder [RCV002235612] |
Chr19:51746413 [GRCh38] Chr19:52249666 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.274C>A (p.Pro92Thr) |
single nucleotide variant |
Gingival disorder [RCV002235030]|not specified [RCV004028779] |
Chr19:51746721 [GRCh38] Chr19:52249974 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.205G>A (p.Val69Met) |
single nucleotide variant |
Gingival disorder [RCV002235094]|not specified [RCV004028907] |
Chr19:51746790 [GRCh38] Chr19:52250043 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.198C>A (p.Asn66Lys) |
single nucleotide variant |
Gingival disorder [RCV003596609] |
Chr19:51746797 [GRCh38] Chr19:52250050 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.542C>T (p.Ser181Leu) |
single nucleotide variant |
Gingival disorder [RCV002235101] |
Chr19:51746453 [GRCh38] Chr19:52249706 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.439A>G (p.Ile147Val) |
single nucleotide variant |
Gingival disorder [RCV002235535] |
Chr19:51746556 [GRCh38] Chr19:52249809 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.379G>A (p.Val127Ile) |
single nucleotide variant |
Gingival disorder [RCV002235323] |
Chr19:51746616 [GRCh38] Chr19:52249869 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
Gingival disorder [RCV002233855]|not specified [RCV004027451] |
Chr19:51746436 [GRCh38] Chr19:52249689 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.607A>G (p.Ile203Val) |
single nucleotide variant |
Gingival disorder [RCV002235844] |
Chr19:51746388 [GRCh38] Chr19:52249641 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.710G>A (p.Ser237Asn) |
single nucleotide variant |
Gingival disorder [RCV002233871] |
Chr19:51746285 [GRCh38] Chr19:52249538 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.511A>C (p.Thr171Pro) |
single nucleotide variant |
Gingival disorder [RCV002234904] |
Chr19:51746484 [GRCh38] Chr19:52249737 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.721C>T (p.Arg241Trp) |
single nucleotide variant |
Gingival disorder [RCV002241058] |
Chr19:51746274 [GRCh38] Chr19:52249527 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.160C>T (p.Arg54Trp) |
single nucleotide variant |
Gingival disorder [RCV002241628] |
Chr19:51746835 [GRCh38] Chr19:52250088 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.943G>A (p.Ala315Thr) |
single nucleotide variant |
Gingival disorder [RCV002241459] |
Chr19:51746052 [GRCh38] Chr19:52249305 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.497C>T (p.Thr166Ile) |
single nucleotide variant |
Gingival disorder [RCV002563987] |
Chr19:51746498 [GRCh38] Chr19:52249751 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.634G>A (p.Ala212Thr) |
single nucleotide variant |
Gingival disorder [RCV002241504] |
Chr19:51746361 [GRCh38] Chr19:52249614 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.664G>A (p.Gly222Arg) |
single nucleotide variant |
Periodontitis [RCV001223564] |
Chr19:51746331 [GRCh38] Chr19:52249584 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.722G>A (p.Arg241Gln) |
single nucleotide variant |
Gingival disorder [RCV002241289] |
Chr19:51746273 [GRCh38] Chr19:52249526 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.823A>G (p.Met275Val) |
single nucleotide variant |
Gingival disorder [RCV002241311] |
Chr19:51746172 [GRCh38] Chr19:52249425 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.570G>C (p.Arg190Ser) |
single nucleotide variant |
Gingival disorder [RCV002240490] |
Chr19:51746425 [GRCh38] Chr19:52249678 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.744A>C (p.Ala248=) |
single nucleotide variant |
Gingival disorder [RCV002235489]|not provided [RCV004704272] |
Chr19:51746251 [GRCh38] Chr19:52249504 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.613C>T (p.Arg205Trp) |
single nucleotide variant |
Gingival disorder [RCV002240265] |
Chr19:51746382 [GRCh38] Chr19:52249635 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.826T>C (p.Tyr276His) |
single nucleotide variant |
Gingival disorder [RCV002240341] |
Chr19:51746169 [GRCh38] Chr19:52249422 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.596C>T (p.Thr199Met) |
single nucleotide variant |
Gingival disorder [RCV002241128] |
Chr19:51746399 [GRCh38] Chr19:52249652 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.331G>A (p.Gly111Arg) |
single nucleotide variant |
Gingival disorder [RCV002240536] |
Chr19:51746664 [GRCh38] Chr19:52249917 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.40G>A (p.Gly14Arg) |
single nucleotide variant |
Gingival disorder [RCV002239298] |
Chr19:51746955 [GRCh38] Chr19:52250208 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.955A>C (p.Ser319Arg) |
single nucleotide variant |
Gingival disorder [RCV002240319] |
Chr19:51746040 [GRCh38] Chr19:52249293 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp) |
single nucleotide variant |
FPR1 POLYMORPHISM [RCV001035430]|Gingival disorder [RCV002239272]|not provided [RCV001655668] |
Chr19:51746427 [GRCh38] Chr19:52249680 [GRCh37] Chr19:19q13.41 |
benign |
NM_002029.4(FPR1):c.79A>G (p.Ile27Val) |
single nucleotide variant |
Gingival disorder [RCV002239358] |
Chr19:51746916 [GRCh38] Chr19:52250169 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.654T>A (p.Ala218=) |
single nucleotide variant |
Gingival disorder [RCV002240973] |
Chr19:51746341 [GRCh38] Chr19:52249594 [GRCh37] Chr19:19q13.41 |
likely benign|uncertain significance |
NM_002029.4(FPR1):c.736G>T (p.Val246Phe) |
single nucleotide variant |
Gingival disorder [RCV002237134] |
Chr19:51746259 [GRCh38] Chr19:52249512 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.919G>A (p.Asp307Asn) |
single nucleotide variant |
Gingival disorder [RCV002241487] |
Chr19:51746076 [GRCh38] Chr19:52249329 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.713G>A (p.Arg238His) |
single nucleotide variant |
Gingival disorder [RCV002240186] |
Chr19:51746282 [GRCh38] Chr19:52249535 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.898C>G (p.Leu300Val) |
single nucleotide variant |
Gingival disorder [RCV002239274] |
Chr19:51746097 [GRCh38] Chr19:52249350 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NC_000019.10:g.(?_51745922)_(51759909_?)dup |
duplication |
Periodontitis [RCV001032008] |
Chr19:52249175..52263162 [GRCh37] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) |
copy number gain |
not provided [RCV001249294] |
Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42 |
not provided |
NM_002029.4(FPR1):c.751T>C (p.Phe251Leu) |
single nucleotide variant |
Gingival disorder [RCV002241585] |
Chr19:51746244 [GRCh38] Chr19:52249497 [GRCh37] Chr19:19q13.41 |
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_002029.4(FPR1):c.121G>A (p.Val41Ile) |
single nucleotide variant |
Gingival disorder [RCV002242286] |
Chr19:51746874 [GRCh38] Chr19:52250127 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.926G>A (p.Arg309Gln) |
single nucleotide variant |
Gingival disorder [RCV002242470] |
Chr19:51746069 [GRCh38] Chr19:52249322 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.80T>A (p.Ile27Asn) |
single nucleotide variant |
Gingival disorder [RCV002242267] |
Chr19:51746915 [GRCh38] Chr19:52250168 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.824T>C (p.Met275Thr) |
single nucleotide variant |
Gingival disorder [RCV002242167] |
Chr19:51746171 [GRCh38] Chr19:52249424 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.553A>G (p.Asn185Asp) |
single nucleotide variant |
Gingival disorder [RCV002243074] |
Chr19:51746442 [GRCh38] Chr19:52249695 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.204C>T (p.Ala68=) |
single nucleotide variant |
Gingival disorder [RCV002242933] |
Chr19:51746791 [GRCh38] Chr19:52250044 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.407A>C (p.His136Pro) |
single nucleotide variant |
Gingival disorder [RCV002242582] |
Chr19:51746588 [GRCh38] Chr19:52249841 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.976G>A (p.Glu326Lys) |
single nucleotide variant |
Gingival disorder [RCV002241875] |
Chr19:51746019 [GRCh38] Chr19:52249272 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.942C>T (p.His314=) |
single nucleotide variant |
Gingival disorder [RCV002240883] |
Chr19:51746053 [GRCh38] Chr19:52249306 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.27G>A (p.Thr9=) |
single nucleotide variant |
Gingival disorder [RCV002240295] |
Chr19:51746968 [GRCh38] Chr19:52250221 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.726C>T (p.Val242=) |
single nucleotide variant |
Gingival disorder [RCV002243024] |
Chr19:51746269 [GRCh38] Chr19:52249522 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.954C>G (p.Ala318=) |
single nucleotide variant |
Gingival disorder [RCV002240596] |
Chr19:51746041 [GRCh38] Chr19:52249294 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.390A>G (p.Pro130=) |
single nucleotide variant |
Gingival disorder [RCV002240269] |
Chr19:51746605 [GRCh38] Chr19:52249858 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.474G>A (p.Leu158=) |
single nucleotide variant |
Gingival disorder [RCV002237162] |
Chr19:51746521 [GRCh38] Chr19:52249774 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.378C>T (p.Cys126=) |
single nucleotide variant |
Gingival disorder [RCV002243057] |
Chr19:51746617 [GRCh38] Chr19:52249870 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.969C>T (p.Ala323=) |
single nucleotide variant |
Gingival disorder [RCV002242972] |
Chr19:51746026 [GRCh38] Chr19:52249279 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.30C>T (p.Asn10=) |
single nucleotide variant |
Gingival disorder [RCV002237179] |
Chr19:51746965 [GRCh38] Chr19:52250218 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.618C>T (p.Phe206=) |
single nucleotide variant |
Gingival disorder [RCV002243131] |
Chr19:51746377 [GRCh38] Chr19:52249630 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.453G>A (p.Val151=) |
single nucleotide variant |
Gingival disorder [RCV002242938] |
Chr19:51746542 [GRCh38] Chr19:52249795 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.84C>T (p.Ile28=) |
single nucleotide variant |
Gingival disorder [RCV002243107] |
Chr19:51746911 [GRCh38] Chr19:52250164 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.42G>A (p.Gly14=) |
single nucleotide variant |
Gingival disorder [RCV002240290] |
Chr19:51746953 [GRCh38] Chr19:52250206 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.957T>C (p.Ser319=) |
single nucleotide variant |
Gingival disorder [RCV002240275] |
Chr19:51746038 [GRCh38] Chr19:52249291 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.858A>G (p.Thr286=) |
single nucleotide variant |
FPR1-related disorder [RCV003948420]|Gingival disorder [RCV002240708] |
Chr19:51746137 [GRCh38] Chr19:52249390 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.27G>C (p.Thr9=) |
single nucleotide variant |
Gingival disorder [RCV002236171] |
Chr19:51746968 [GRCh38] Chr19:52250221 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.1044G>A (p.Gln348=) |
single nucleotide variant |
Gingival disorder [RCV002240430] |
Chr19:51745951 [GRCh38] Chr19:52249204 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.738C>T (p.Val246=) |
single nucleotide variant |
Gingival disorder [RCV002240447] |
Chr19:51746257 [GRCh38] Chr19:52249510 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.21C>G (p.Leu7=) |
single nucleotide variant |
Gingival disorder [RCV002239427] |
Chr19:51746974 [GRCh38] Chr19:52250227 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.381C>T (p.Val127=) |
single nucleotide variant |
Gingival disorder [RCV002240663] |
Chr19:51746614 [GRCh38] Chr19:52249867 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.300C>T (p.Phe100=) |
single nucleotide variant |
Gingival disorder [RCV002241006] |
Chr19:51746695 [GRCh38] Chr19:52249948 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.639C>T (p.Pro213=) |
single nucleotide variant |
Gingival disorder [RCV002241020]|not provided [RCV004704627] |
Chr19:51746356 [GRCh38] Chr19:52249609 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.189T>C (p.Ser63=) |
single nucleotide variant |
Gingival disorder [RCV002236354] |
Chr19:51746806 [GRCh38] Chr19:52250059 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.439A>T (p.Ile147Phe) |
single nucleotide variant |
Gingival disorder [RCV002237151] |
Chr19:51746556 [GRCh38] Chr19:52249809 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.472T>C (p.Leu158=) |
single nucleotide variant |
Gingival disorder [RCV002241028] |
Chr19:51746523 [GRCh38] Chr19:52249776 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.513G>A (p.Thr171=) |
single nucleotide variant |
Gingival disorder [RCV002241173] |
Chr19:51746482 [GRCh38] Chr19:52249735 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.576T>C (p.Asn192=) |
single nucleotide variant |
Gingival disorder [RCV002241361]|not provided [RCV001824979] |
Chr19:51746419 [GRCh38] Chr19:52249672 [GRCh37] Chr19:19q13.41 |
benign|not provided |
NM_002029.4(FPR1):c.330C>T (p.Phe110=) |
single nucleotide variant |
Gingival disorder [RCV002236360] |
Chr19:51746665 [GRCh38] Chr19:52249918 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.564A>G (p.Lys188=) |
single nucleotide variant |
Gingival disorder [RCV002240699] |
Chr19:51746431 [GRCh38] Chr19:52249684 [GRCh37] Chr19:19q13.41 |
likely benign |
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 |
copy number gain |
not provided [RCV001827892] |
Chr19:51769834..52415762 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.456G>A (p.Met152Ile) |
single nucleotide variant |
Gingival disorder [RCV002039306] |
Chr19:51746539 [GRCh38] Chr19:52249792 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NC_000019.9:g.(?_52249195)_(52250247_?)dup |
duplication |
Gingival disorder [RCV002020597] |
Chr19:52249195..52250247 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.487C>T (p.Arg163Cys) |
single nucleotide variant |
Gingival disorder [RCV002022574] |
Chr19:51746508 [GRCh38] Chr19:52249761 [GRCh37] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) |
copy number gain |
not specified [RCV002052689] |
Chr19:49911081..53127438 [GRCh37] Chr19:19q13.33-13.41 |
likely pathogenic |
NM_002029.4(FPR1):c.623T>C (p.Ile208Thr) |
single nucleotide variant |
Gingival disorder [RCV001947108] |
Chr19:51746372 [GRCh38] Chr19:52249625 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.257C>T (p.Ala86Val) |
single nucleotide variant |
Gingival disorder [RCV002021212] |
Chr19:51746738 [GRCh38] Chr19:52249991 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.272G>A (p.Trp91Ter) |
single nucleotide variant |
Gingival disorder [RCV001984392] |
Chr19:51746723 [GRCh38] Chr19:52249976 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.476C>G (p.Pro159Arg) |
single nucleotide variant |
Gingival disorder [RCV001904956] |
Chr19:51746519 [GRCh38] Chr19:52249772 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.301G>A (p.Val101Ile) |
single nucleotide variant |
Gingival disorder [RCV002038943] |
Chr19:51746694 [GRCh38] Chr19:52249947 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.556G>A (p.Asp186Asn) |
single nucleotide variant |
Gingival disorder [RCV001887401] |
Chr19:51746439 [GRCh38] Chr19:52249692 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.707C>G (p.Ser236Cys) |
single nucleotide variant |
Gingival disorder [RCV002037563] |
Chr19:51746288 [GRCh38] Chr19:52249541 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.1016C>T (p.Thr339Ile) |
single nucleotide variant |
Gingival disorder [RCV002000260] |
Chr19:51745979 [GRCh38] Chr19:52249232 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.466C>T (p.Leu156Phe) |
single nucleotide variant |
Gingival disorder [RCV001920826] |
Chr19:51746529 [GRCh38] Chr19:52249782 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.161G>A (p.Arg54Gln) |
single nucleotide variant |
Gingival disorder [RCV001905188] |
Chr19:51746834 [GRCh38] Chr19:52250087 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.367C>T (p.Arg123Cys) |
single nucleotide variant |
Gingival disorder [RCV001922654] |
Chr19:51746628 [GRCh38] Chr19:52249881 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.512C>T (p.Thr171Met) |
single nucleotide variant |
Gingival disorder [RCV001906002]|not specified [RCV004041418] |
Chr19:51746483 [GRCh38] Chr19:52249736 [GRCh37] Chr19:19q13.41 |
likely benign|uncertain significance |
NM_002029.4(FPR1):c.139G>T (p.Val47Leu) |
single nucleotide variant |
Gingival disorder [RCV001952305] |
Chr19:51746856 [GRCh38] Chr19:52250109 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.275C>T (p.Pro92Leu) |
single nucleotide variant |
Gingival disorder [RCV001933254] |
Chr19:51746720 [GRCh38] Chr19:52249973 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.851A>G (p.Asp284Gly) |
single nucleotide variant |
Gingival disorder [RCV002014956] |
Chr19:51746144 [GRCh38] Chr19:52249397 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.758G>T (p.Cys253Phe) |
single nucleotide variant |
Gingival disorder [RCV002017587] |
Chr19:51746237 [GRCh38] Chr19:52249490 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.445C>T (p.Pro149Ser) |
single nucleotide variant |
Gingival disorder [RCV001920168]|not specified [RCV004616846] |
Chr19:51746550 [GRCh38] Chr19:52249803 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.821G>C (p.Gly274Ala) |
single nucleotide variant |
Gingival disorder [RCV001899217] |
Chr19:51746174 [GRCh38] Chr19:52249427 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.652G>T (p.Ala218Ser) |
single nucleotide variant |
Gingival disorder [RCV002014626] |
Chr19:51746343 [GRCh38] Chr19:52249596 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.555C>T (p.Asn185=) |
single nucleotide variant |
Gingival disorder [RCV002091140] |
Chr19:51746440 [GRCh38] Chr19:52249693 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.447C>T (p.Pro149=) |
single nucleotide variant |
Gingival disorder [RCV002090389] |
Chr19:51746548 [GRCh38] Chr19:52249801 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.12T>C (p.Asn4=) |
single nucleotide variant |
Gingival disorder [RCV002170174] |
Chr19:51746983 [GRCh38] Chr19:52250236 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.528C>T (p.Cys176=) |
single nucleotide variant |
Gingival disorder [RCV002112250] |
Chr19:51746467 [GRCh38] Chr19:52249720 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.156A>T (p.Gly52=) |
single nucleotide variant |
Gingival disorder [RCV002096200] |
Chr19:51746839 [GRCh38] Chr19:52250092 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.486T>C (p.Ile162=) |
single nucleotide variant |
Gingival disorder [RCV002166174] |
Chr19:51746509 [GRCh38] Chr19:52249762 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.543G>A (p.Ser181=) |
single nucleotide variant |
Gingival disorder [RCV002216355] |
Chr19:51746452 [GRCh38] Chr19:52249705 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.975C>G (p.Thr325=) |
single nucleotide variant |
Gingival disorder [RCV002078779] |
Chr19:51746020 [GRCh38] Chr19:52249273 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.414C>T (p.Thr138=) |
single nucleotide variant |
Gingival disorder [RCV002149147] |
Chr19:51746581 [GRCh38] Chr19:52249834 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.132C>T (p.Asn44=) |
single nucleotide variant |
Gingival disorder [RCV002135920] |
Chr19:51746863 [GRCh38] Chr19:52250116 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.519A>T (p.Thr173=) |
single nucleotide variant |
Gingival disorder [RCV002201995] |
Chr19:51746476 [GRCh38] Chr19:52249729 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.339C>A (p.Val113=) |
single nucleotide variant |
Gingival disorder [RCV002122150] |
Chr19:51746656 [GRCh38] Chr19:52249909 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.682A>T (p.Ile228Phe) |
single nucleotide variant |
Gingival disorder [RCV003115321] |
Chr19:51746313 [GRCh38] Chr19:52249566 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.133G>A (p.Gly45Arg) |
single nucleotide variant |
Gingival disorder [RCV003112099] |
Chr19:51746862 [GRCh38] Chr19:52250115 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.465C>T (p.Leu155=) |
single nucleotide variant |
Gingival disorder [RCV003115790] |
Chr19:51746530 [GRCh38] Chr19:52249783 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.144C>G (p.Ile48Met) |
single nucleotide variant |
Gingival disorder [RCV002298332] |
Chr19:51746851 [GRCh38] Chr19:52250104 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.589A>G (p.Met197Val) |
single nucleotide variant |
Gingival disorder [RCV002301824] |
Chr19:51746406 [GRCh38] Chr19:52249659 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.396del (p.Val131_Trp132insTer) |
deletion |
Gingival disorder [RCV002880471] |
Chr19:51746599 [GRCh38] Chr19:52249852 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.470C>T (p.Thr157Ile) |
single nucleotide variant |
not specified [RCV004139833] |
Chr19:51746525 [GRCh38] Chr19:52249778 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.583G>A (p.Val195Ile) |
single nucleotide variant |
Gingival disorder [RCV002994866] |
Chr19:51746412 [GRCh38] Chr19:52249665 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.876C>T (p.Phe292=) |
single nucleotide variant |
Gingival disorder [RCV002858710] |
Chr19:51746119 [GRCh38] Chr19:52249372 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.52G>A (p.Val18Ile) |
single nucleotide variant |
Gingival disorder [RCV002908358] |
Chr19:51746943 [GRCh38] Chr19:52250196 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.775G>A (p.Val259Met) |
single nucleotide variant |
Gingival disorder [RCV002794937] |
Chr19:51746220 [GRCh38] Chr19:52249473 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.723G>T (p.Arg241=) |
single nucleotide variant |
Gingival disorder [RCV002775075] |
Chr19:51746272 [GRCh38] Chr19:52249525 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.541T>C (p.Ser181Pro) |
single nucleotide variant |
Gingival disorder [RCV002995714] |
Chr19:51746454 [GRCh38] Chr19:52249707 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.408C>T (p.His136=) |
single nucleotide variant |
Gingival disorder [RCV003075961] |
Chr19:51746587 [GRCh38] Chr19:52249840 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.268C>T (p.His90Tyr) |
single nucleotide variant |
Gingival disorder [RCV003081568] |
Chr19:51746727 [GRCh38] Chr19:52249980 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.118G>A (p.Gly40Arg) |
single nucleotide variant |
Gingival disorder [RCV002786114] |
Chr19:51746877 [GRCh38] Chr19:52250130 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.211dup (p.Asp71fs) |
duplication |
Gingival disorder [RCV002824851] |
Chr19:51746783..51746784 [GRCh38] Chr19:52250036..52250037 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.696C>G (p.Gly232=) |
single nucleotide variant |
Gingival disorder [RCV002998791] |
Chr19:51746299 [GRCh38] Chr19:52249552 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.902A>G (p.Tyr301Cys) |
single nucleotide variant |
not specified [RCV004102008] |
Chr19:51746093 [GRCh38] Chr19:52249346 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.914G>T (p.Gly305Val) |
single nucleotide variant |
Gingival disorder [RCV003079987] |
Chr19:51746081 [GRCh38] Chr19:52249334 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.1008C>A (p.Thr336=) |
single nucleotide variant |
Gingival disorder [RCV002975965] |
Chr19:51745987 [GRCh38] Chr19:52249240 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.506G>A (p.Gly169Asp) |
single nucleotide variant |
Gingival disorder [RCV002620980] |
Chr19:51746489 [GRCh38] Chr19:52249742 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.415G>A (p.Val139Met) |
single nucleotide variant |
Gingival disorder [RCV002957971] |
Chr19:51746580 [GRCh38] Chr19:52249833 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.648C>T (p.Ile216=) |
single nucleotide variant |
Gingival disorder [RCV002786194] |
Chr19:51746347 [GRCh38] Chr19:52249600 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.283T>G (p.Trp95Gly) |
single nucleotide variant |
not specified [RCV004113082] |
Chr19:51746712 [GRCh38] Chr19:52249965 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.982T>C (p.Ser328Pro) |
single nucleotide variant |
Gingival disorder [RCV003068619]|not specified [RCV004070451] |
Chr19:51746013 [GRCh38] Chr19:52249266 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.591G>A (p.Met197Ile) |
single nucleotide variant |
Gingival disorder [RCV002602621]|not specified [RCV004068779] |
Chr19:51746404 [GRCh38] Chr19:52249657 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.349G>A (p.Ala117Thr) |
single nucleotide variant |
Gingival disorder [RCV003090594] |
Chr19:51746646 [GRCh38] Chr19:52249899 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.245T>C (p.Met82Thr) |
single nucleotide variant |
Gingival disorder [RCV002938829] |
Chr19:51746750 [GRCh38] Chr19:52250003 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.185T>A (p.Ile62Asn) |
single nucleotide variant |
Gingival disorder [RCV003090161] |
Chr19:51746810 [GRCh38] Chr19:52250063 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.752T>A (p.Phe251Tyr) |
single nucleotide variant |
Gingival disorder [RCV002811294] |
Chr19:51746243 [GRCh38] Chr19:52249496 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.646A>G (p.Ile216Val) |
single nucleotide variant |
Gingival disorder [RCV002966373]|not specified [RCV004068127] |
Chr19:51746349 [GRCh38] Chr19:52249602 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.960G>A (p.Leu320=) |
single nucleotide variant |
Gingival disorder [RCV002835158] |
Chr19:51746035 [GRCh38] Chr19:52249288 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.1008C>T (p.Thr336=) |
single nucleotide variant |
Gingival disorder [RCV003026308] |
Chr19:51745987 [GRCh38] Chr19:52249240 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.726C>A (p.Val242=) |
single nucleotide variant |
FPR1-related disorder [RCV003898635]|Gingival disorder [RCV002943690] |
Chr19:51746269 [GRCh38] Chr19:52249522 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.279C>T (p.Phe93=) |
single nucleotide variant |
Gingival disorder [RCV002942460] |
Chr19:51746716 [GRCh38] Chr19:52249969 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.284G>T (p.Trp95Leu) |
single nucleotide variant |
Gingival disorder [RCV002611677] |
Chr19:51746711 [GRCh38] Chr19:52249964 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.443G>A (p.Gly148Glu) |
single nucleotide variant |
not provided [RCV003228149] |
Chr19:51746552 [GRCh38] Chr19:52249805 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.436A>G (p.Ile146Val) |
single nucleotide variant |
Gingival disorder [RCV003874409]|not specified [RCV004369630] |
Chr19:51746559 [GRCh38] Chr19:52249812 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.554A>G (p.Asn185Ser) |
single nucleotide variant |
Gingival disorder [RCV003874421] |
Chr19:51746441 [GRCh38] Chr19:52249694 [GRCh37] Chr19:19q13.41 |
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_002029.4(FPR1):c.350C>T (p.Ala117Val) |
single nucleotide variant |
Gingival disorder [RCV003882470] |
Chr19:51746645 [GRCh38] Chr19:52249898 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.77A>C (p.Asp26Ala) |
single nucleotide variant |
Gingival disorder [RCV003597014] |
Chr19:51746918 [GRCh38] Chr19:52250171 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.829A>C (p.Lys277Gln) |
single nucleotide variant |
Gingival disorder [RCV003763356] |
Chr19:51746166 [GRCh38] Chr19:52249419 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.443G>C (p.Gly148Ala) |
single nucleotide variant |
Gingival disorder [RCV003763457] |
Chr19:51746552 [GRCh38] Chr19:52249805 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.891C>T (p.Asn297=) |
single nucleotide variant |
Gingival disorder [RCV005062606] |
Chr19:51746104 [GRCh38] Chr19:52249357 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.69C>T (p.Leu23=) |
single nucleotide variant |
Gingival disorder [RCV003596425] |
Chr19:51746926 [GRCh38] Chr19:52250179 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.352C>G (p.Leu118Val) |
single nucleotide variant |
Gingival disorder [RCV003596803] |
Chr19:51746643 [GRCh38] Chr19:52249896 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.333A>G (p.Gly111=) |
single nucleotide variant |
Gingival disorder [RCV003764224] |
Chr19:51746662 [GRCh38] Chr19:52249915 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.258C>T (p.Ala86=) |
single nucleotide variant |
Gingival disorder [RCV003596984] |
Chr19:51746737 [GRCh38] Chr19:52249990 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.208G>A (p.Ala70Thr) |
single nucleotide variant |
Gingival disorder [RCV003596407] |
Chr19:51746787 [GRCh38] Chr19:52250040 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.77A>G (p.Asp26Gly) |
single nucleotide variant |
Gingival disorder [RCV003855710] |
Chr19:51746918 [GRCh38] Chr19:52250171 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.15C>T (p.Ser5=) |
single nucleotide variant |
Gingival disorder [RCV003762656] |
Chr19:51746980 [GRCh38] Chr19:52250233 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.17C>T (p.Ser6Phe) |
single nucleotide variant |
Gingival disorder [RCV003596432] |
Chr19:51746978 [GRCh38] Chr19:52250231 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.44C>A (p.Thr15Lys) |
single nucleotide variant |
Gingival disorder [RCV003762275] |
Chr19:51746951 [GRCh38] Chr19:52250204 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.624T>C (p.Ile208=) |
single nucleotide variant |
Gingival disorder [RCV003762351] |
Chr19:51746371 [GRCh38] Chr19:52249624 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.853G>A (p.Val285Met) |
single nucleotide variant |
Gingival disorder [RCV003764384] |
Chr19:51746142 [GRCh38] Chr19:52249395 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.918G>A (p.Gln306=) |
single nucleotide variant |
Gingival disorder [RCV003763506] |
Chr19:51746077 [GRCh38] Chr19:52249330 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.484A>G (p.Ile162Val) |
single nucleotide variant |
Gingival disorder [RCV003763515] |
Chr19:51746511 [GRCh38] Chr19:52249764 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.642G>A (p.Met214Ile) |
single nucleotide variant |
Gingival disorder [RCV003762520] |
Chr19:51746353 [GRCh38] Chr19:52249606 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.410G>A (p.Arg137His) |
single nucleotide variant |
Gingival disorder [RCV003763476] |
Chr19:51746585 [GRCh38] Chr19:52249838 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.56C>G (p.Ser19Cys) |
single nucleotide variant |
Gingival disorder [RCV003762326] |
Chr19:51746939 [GRCh38] Chr19:52250192 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.641T>G (p.Met214Arg) |
single nucleotide variant |
Gingival disorder [RCV003762474] |
Chr19:51746354 [GRCh38] Chr19:52249607 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.841A>G (p.Ile281Val) |
single nucleotide variant |
Gingival disorder [RCV003763643] |
Chr19:51746154 [GRCh38] Chr19:52249407 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.444G>T (p.Gly148=) |
single nucleotide variant |
Gingival disorder [RCV003596768] |
Chr19:51746551 [GRCh38] Chr19:52249804 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.1015A>G (p.Thr339Ala) |
single nucleotide variant |
Gingival disorder [RCV003762666] |
Chr19:51745980 [GRCh38] Chr19:52249233 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.1010A>G (p.Asn337Ser) |
single nucleotide variant |
Gingival disorder [RCV003762276] |
Chr19:51745985 [GRCh38] Chr19:52249238 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.244A>G (p.Met82Val) |
single nucleotide variant |
Gingival disorder [RCV003763531] |
Chr19:51746751 [GRCh38] Chr19:52250004 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.739G>A (p.Ala247Thr) |
single nucleotide variant |
Gingival disorder [RCV003596451] |
Chr19:51746256 [GRCh38] Chr19:52249509 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.144C>T (p.Ile48=) |
single nucleotide variant |
Gingival disorder [RCV003596983] |
Chr19:51746851 [GRCh38] Chr19:52250104 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.524C>T (p.Ala175Val) |
single nucleotide variant |
FPR1-related disorder [RCV004757611]|Gingival disorder [RCV003764389] |
Chr19:51746471 [GRCh38] Chr19:52249724 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.897G>A (p.Met299Ile) |
single nucleotide variant |
Gingival disorder [RCV003846913] |
Chr19:51746098 [GRCh38] Chr19:52249351 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.346A>T (p.Ile116Phe) |
single nucleotide variant |
Gingival disorder [RCV003870699] |
Chr19:51746649 [GRCh38] Chr19:52249902 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.405C>T (p.Asn135=) |
single nucleotide variant |
Gingival disorder [RCV003868914] |
Chr19:51746590 [GRCh38] Chr19:52249843 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.139G>A (p.Val47Met) |
single nucleotide variant |
Gingival disorder [RCV003844329] |
Chr19:51746856 [GRCh38] Chr19:52250109 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.548G>A (p.Trp183Ter) |
single nucleotide variant |
Gingival disorder [RCV003840848] |
Chr19:51746447 [GRCh38] Chr19:52249700 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.1038G>A (p.Glu346=) |
single nucleotide variant |
FPR1-related disorder [RCV003924053] |
Chr19:51745957 [GRCh38] Chr19:52249210 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.539T>A (p.Phe180Tyr) |
single nucleotide variant |
Gingival disorder [RCV005146909] |
Chr19:51746456 [GRCh38] Chr19:52249709 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.481A>G (p.Ile161Val) |
single nucleotide variant |
Gingival disorder [RCV005087770] |
Chr19:51746514 [GRCh38] Chr19:52249767 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.951C>T (p.Pro317=) |
single nucleotide variant |
Gingival disorder [RCV005060019] |
Chr19:51746044 [GRCh38] Chr19:52249297 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.595A>T (p.Thr199Ser) |
single nucleotide variant |
Gingival disorder [RCV005191509] |
Chr19:51746400 [GRCh38] Chr19:52249653 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.519A>G (p.Thr173=) |
single nucleotide variant |
Gingival disorder [RCV005140636] |
Chr19:51746476 [GRCh38] Chr19:52249729 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.649G>A (p.Val217Ile) |
single nucleotide variant |
Gingival disorder [RCV005186511] |
Chr19:51746346 [GRCh38] Chr19:52249599 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.730T>C (p.Ser244Pro) |
single nucleotide variant |
Gingival disorder [RCV005116323] |
Chr19:51746265 [GRCh38] Chr19:52249518 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.912G>A (p.Met304Ile) |
single nucleotide variant |
Gingival disorder [RCV005084066] |
Chr19:51746083 [GRCh38] Chr19:52249336 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.171C>T (p.His57=) |
single nucleotide variant |
Gingival disorder [RCV005167306] |
Chr19:51746824 [GRCh38] Chr19:52250077 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.1047A>G (p.Ala349=) |
single nucleotide variant |
Gingival disorder [RCV005191934] |
Chr19:51745948 [GRCh38] Chr19:52249201 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.382C>T (p.Leu128=) |
single nucleotide variant |
Gingival disorder [RCV005083084] |
Chr19:51746613 [GRCh38] Chr19:52249866 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.635C>T (p.Ala212Val) |
single nucleotide variant |
Gingival disorder [RCV005177386] |
Chr19:51746360 [GRCh38] Chr19:52249613 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.17C>G (p.Ser6Cys) |
single nucleotide variant |
Gingival disorder [RCV005165710] |
Chr19:51746978 [GRCh38] Chr19:52250231 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.331G>C (p.Gly111Arg) |
single nucleotide variant |
Gingival disorder [RCV005120704] |
Chr19:51746664 [GRCh38] Chr19:52249917 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.665G>A (p.Gly222Glu) |
single nucleotide variant |
Gingival disorder [RCV005077105] |
Chr19:51746330 [GRCh38] Chr19:52249583 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.62G>C (p.Gly21Ala) |
single nucleotide variant |
Gingival disorder [RCV005139259] |
Chr19:51746933 [GRCh38] Chr19:52250186 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.557_723dup (p.Val242delinsThrLeuLysArgGlyTer) |
duplication |
Gingival disorder [RCV005141193] |
Chr19:51746271..51746272 [GRCh38] Chr19:52249524..52249525 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.540_541del (p.Ser181fs) |
deletion |
Gingival disorder [RCV005121399] |
Chr19:51746454..51746455 [GRCh38] Chr19:52249707..52249708 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.766C>T (p.Pro256Ser) |
single nucleotide variant |
Gingival disorder [RCV005161544] |
Chr19:51746229 [GRCh38] Chr19:52249482 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.186C>T (p.Ile62=) |
single nucleotide variant |
Gingival disorder [RCV005178818] |
Chr19:51746809 [GRCh38] Chr19:52250062 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_002029.4(FPR1):c.677C>T (p.Thr226Ile) |
single nucleotide variant |
Gingival disorder [RCV005198601] |
Chr19:51746318 [GRCh38] Chr19:52249571 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_002029.4(FPR1):c.136C>G (p.Leu46Val) |
single nucleotide variant |
Gingival disorder [RCV005201524] |
Chr19:51746859 [GRCh38] Chr19:52250112 [GRCh37] Chr19:19q13.41 |
uncertain significance |