NM_001317778.2(SFTPC):c.417A>C (p.Arg139Ser) |
single nucleotide variant |
not provided [RCV000518943] |
Chr8:22163528 [GRCh38] Chr8:22021041 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.324+5G>A |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002323888]|not provided [RCV000523865] |
Chr8:22163207 [GRCh38] Chr8:22020720 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.435+1G>A |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014094] |
Chr8:22163547 [GRCh38] Chr8:22021060 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002415413]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014095]|not provided [RCV000731190] |
Chr8:22163096 [GRCh38] Chr8:22020609 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002336082]|Interstitial lung disease 2 [RCV000261074]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014096]|not provided [RCV002054436] |
Chr8:22163947 [GRCh38] Chr8:22021460 [GRCh37] Chr8:8p21.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_001317778.2(SFTPC):c.545T>A (p.Leu182Gln) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014097] |
Chr8:22164010 [GRCh38] Chr8:22021523 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.435+1G>T |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014098] |
Chr8:22163547 [GRCh38] Chr8:22021060 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.347C>A (p.Ala116Asp) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014099] |
Chr8:22163458 [GRCh38] Chr8:22020971 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014100] |
Chr8:22162727 [GRCh38] Chr8:22020240 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.563T>C (p.Leu188Pro) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014101] |
Chr8:22164028 [GRCh38] Chr8:22021541 [GRCh37] Chr8:8p21.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000050294] |
Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000050297] |
Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000050912] |
Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 |
copy number gain |
See cases [RCV000051145] |
Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 |
copy number gain |
See cases [RCV000051110] |
Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 |
copy number gain |
See cases [RCV000053629] |
Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 |
copy number gain |
See cases [RCV000053630] |
Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] |
Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 |
copy number gain |
See cases [RCV000053632] |
Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 |
copy number gain |
See cases [RCV000053633] |
Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 |
copy number gain |
See cases [RCV000053635] |
Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21 |
pathogenic |
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 |
copy number gain |
See cases [RCV000053636] |
Chr8:21654619..23001935 [GRCh38] Chr8:21512131..22859448 [GRCh37] Chr8:21556411..22915393 [NCBI36] Chr8:8p21.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 |
copy number gain |
See cases [RCV000053599] |
Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] |
Chr8:21482945..22853239 [GRCh38] Chr8:21340456..22710752 [GRCh37] Chr8:21384736..22766697 [NCBI36] Chr8:8p21.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 |
copy number gain |
See cases [RCV000135786] |
Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 |
copy number gain |
See cases [RCV000135566] |
Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 |
copy number gain |
See cases [RCV000136516] |
Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 |
copy number gain |
See cases [RCV000136026] |
Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2 |
pathogenic |
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 |
copy number gain |
See cases [RCV000135967] |
Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 |
copy number gain |
See cases [RCV000136825] |
Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 |
copy number gain |
See cases [RCV000137249] |
Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 |
copy number gain |
See cases [RCV000138058] |
Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 |
copy number gain |
See cases [RCV000137807] |
Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 |
copy number gain |
See cases [RCV000138831] |
Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 |
copy number gain |
See cases [RCV000138244] |
Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 |
copy number gain |
See cases [RCV000139891] |
Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 |
copy number gain |
See cases [RCV000139770] |
Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 |
copy number gain |
See cases [RCV000139796] |
Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 |
copy number gain |
See cases [RCV000139549] |
Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 |
copy number gain |
See cases [RCV000141410] |
Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 |
copy number loss |
See cases [RCV000142516] |
Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 |
copy number loss |
See cases [RCV000142747] |
Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_003018.3:c.435_436insGT |
insertion |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001294092] |
|
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 |
copy number gain |
See cases [RCV000143508] |
Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002326871]|Interstitial lung disease 2 [RCV000387624]|Osteogenesis Imperfecta, Recessive [RCV000311252]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000289134]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160261]|not provided [RCV001618306]|not specified [RCV000151856] |
Chr8:22163524 [GRCh38] Chr8:22021037 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.436-26C>G |
single nucleotide variant |
Interstitial lung disease 2 [RCV000344147]|Osteogenesis Imperfecta, Recessive [RCV000352001]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000390443]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160262]|not provided [RCV001682868]|not specified [RCV000151857] |
Chr8:22163875 [GRCh38] Chr8:22021388 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002345476]|Interstitial lung disease 2 [RCV000277733]|Osteogenesis Imperfecta, Recessive [RCV000401939]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000367594]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163945]|not provided [RCV001682869]|not specified [RCV000151858] |
Chr8:22164004 [GRCh38] Chr8:22021517 [GRCh37] Chr8:8p21.3 |
benign |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000148249] |
Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000148237] |
Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000148252] |
Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1 |
pathogenic |
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 |
copy number gain |
See cases [RCV000203434] |
Chr8:20478546..28986438 [GRCh37] Chr8:8p21.3-12 |
pathogenic |
NM_001317778.2(SFTPC):c.201+14G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000358246]|Osteogenesis Imperfecta, Recessive [RCV000407806]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000303558]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163844]|not provided [RCV001682867]|not specified [RCV000151855] |
Chr8:22162746 [GRCh38] Chr8:22020259 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.115G>A (p.Val39Met) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV002282063]|not provided [RCV000224142] |
Chr8:22162646 [GRCh38] Chr8:22020159 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 |
copy number gain |
See cases [RCV000511325] |
Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 |
copy number gain |
See cases [RCV000239945] |
Chr8:12580132..26774307 [GRCh37] Chr8:8p23.1-21.2 |
pathogenic |
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002372211]|Interstitial lung disease 2 [RCV000315399]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000490496] |
Chr8:22162646 [GRCh38] Chr8:22020159 [GRCh37] Chr8:8p21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002402077]|Interstitial lung disease 2 [RCV000366166]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000271807]|not specified [RCV002248629] |
Chr8:22162707 [GRCh38] Chr8:22020220 [GRCh37] Chr8:8p21.3 |
benign|likely benign|uncertain significance |
NM_001317778.2(SFTPC):c.*12T>A |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002446618]|Interstitial lung disease 2 [RCV000329388]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000288374]|not specified [RCV000430447] |
Chr8:22164053 [GRCh38] Chr8:22021566 [GRCh37] Chr8:8p21.3 |
benign|likely benign|uncertain significance |
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000391181]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000305466]|not provided [RCV001358404]|not specified [RCV002248630] |
Chr8:22163910 [GRCh38] Chr8:22021423 [GRCh37] Chr8:8p21.3 |
benign|likely benign|uncertain significance |
NM_003018.3(SFTPC):c.-91C>T |
single nucleotide variant |
Interstitial lung disease 2 [RCV000326931]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000363097] |
Chr8:22161738 [GRCh38] Chr8:22019251 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.43-7G>A |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002328880]|Interstitial lung disease 2 [RCV000400766]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000350319]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001007607]|not provided [RCV000968120]|not specified [RCV000732367] |
Chr8:22162567 [GRCh38] Chr8:22020080 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000407976]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000306866] |
Chr8:22162673 [GRCh38] Chr8:22020186 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_003018.3(SFTPC):c.-67C>T |
single nucleotide variant |
Interstitial lung disease 2 [RCV000328318]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000273172] |
Chr8:22161762 [GRCh38] Chr8:22019275 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.436-15G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000309075]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000340385] |
Chr8:22163886 [GRCh38] Chr8:22021399 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002450934]|Interstitial lung disease 2 [RCV000292229]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000351790]|not provided [RCV000905522] |
Chr8:22163462 [GRCh38] Chr8:22020975 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002348114]|Interstitial lung disease 2 [RCV000332742]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000382771] |
Chr8:22164017 [GRCh38] Chr8:22021530 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_003018.3(SFTPC):c.-92C>G |
single nucleotide variant |
Interstitial lung disease 2 [RCV000276609]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000370990] |
Chr8:22161737 [GRCh38] Chr8:22019250 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002348113]|Interstitial lung disease 2 [RCV000262185]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000331564]|not provided [RCV001431879] |
Chr8:22163988 [GRCh38] Chr8:22021501 [GRCh37] Chr8:8p21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002446617]|Interstitial lung disease 2 [RCV000263116]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000371705]|not provided [RCV000960901] |
Chr8:22163106 [GRCh38] Chr8:22020619 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000297514]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000356991] |
Chr8:22163970 [GRCh38] Chr8:22021483 [GRCh37] Chr8:8p21.3 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000768452] |
Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002446616]|Interstitial lung disease 2 [RCV000268278]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000317122] |
Chr8:22163106 [GRCh38] Chr8:22020619 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002328879]|Interstitial lung disease 2 [RCV000375927]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000281315]|not provided [RCV002058716] |
Chr8:22161870 [GRCh38] Chr8:22019383 [GRCh37] Chr8:8p21.3 |
benign|likely benign|uncertain significance |
NM_001317778.2(SFTPC):c.18+13G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000340179]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000401749] |
Chr8:22164072 [GRCh38] Chr8:22021585 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000386911]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000318335]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158925]|not provided [RCV000898546] |
Chr8:22163166 [GRCh38] Chr8:22020679 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.18+12G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000282848]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000383994] |
Chr8:22164071 [GRCh38] Chr8:22021584 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_003018.3(SFTPC):c.-56_-55dup |
duplication |
Interstitial lung disease 2 [RCV000263966]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000378296] |
Chr8:22161772..22161773 [GRCh38] Chr8:22019285..22019286 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_003018.3(SFTPC):c.-134G>C |
single nucleotide variant |
Interstitial lung disease 2 [RCV000392960]|Osteogenesis Imperfecta, Recessive [RCV000346624]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000311642]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158818]|not provided [RCV001653736] |
Chr8:22161695 [GRCh38] Chr8:22019208 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.*193C>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000378056]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000320881] |
Chr8:22164440 [GRCh38] Chr8:22021953 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.24C>G (p.Val8=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002429328]|Interstitial lung disease 2 [RCV000335310]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000280365]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000856674]|not provided [RCV000906537] |
Chr8:22161852 [GRCh38] Chr8:22019365 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_006129.4(BMP1):c.-170A>G |
single nucleotide variant |
Interstitial lung disease 2 [RCV000325246]|Osteogenesis Imperfecta, Recessive [RCV000324647]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000384450]|not provided [RCV000834044] |
Chr8:22165236 [GRCh38] Chr8:22022749 [GRCh37] Chr8:8p21.3 |
benign |
Single allele |
variation |
Osteogenesis Imperfecta, Recessive [RCV000358666] |
Chr8:22021933..22021934 [GRCh37] |
likely benign |
NM_001317778.2(SFTPC):c.-26GAG[1] |
microsatellite |
Interstitial lung disease 2 [RCV000379517]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000323776] |
Chr8:22161803..22161805 [GRCh38] Chr8:22019316..22019318 [GRCh37] Chr8:8p21.3 |
uncertain significance |
Single allele |
variation |
Osteogenesis Imperfecta, Recessive [RCV000299240] |
Chr8:22021933..22021934 [GRCh37] |
benign |
NM_001317778.2(SFTPC):c.*123G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000301511]|Osteogenesis Imperfecta, Recessive [RCV000353332]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000398642]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159016] |
Chr8:22164370 [GRCh38] Chr8:22021883 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.555G>A (p.Glu185=) |
single nucleotide variant |
not provided [RCV000596064] |
Chr8:22164020 [GRCh38] Chr8:22021533 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) |
single nucleotide variant |
Myopathy [RCV000735344] |
Chr8:22162694 [GRCh38] Chr8:22020207 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 |
copy number gain |
See cases [RCV000449225] |
Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12 |
pathogenic |
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) |
copy number loss |
See cases [RCV000447428] |
Chr8:13091530..24483615 [GRCh37] Chr8:8p22-21.2 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 |
copy number gain |
See cases [RCV000447909] |
Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 |
copy number gain |
See cases [RCV000447913] |
Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4 |
copy number gain |
See cases [RCV000510404] |
Chr8:21521340..22492009 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 |
copy number loss |
not provided [RCV000509389] |
Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12 |
not provided |
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 |
copy number gain |
See cases [RCV000510571] |
Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 |
copy number gain |
See cases [RCV000511028] |
Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 |
copy number gain |
See cases [RCV000510899] |
Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001317778.2(SFTPC):c.201+3G>A |
single nucleotide variant |
not specified [RCV000608704] |
Chr8:22162735 [GRCh38] Chr8:22020248 [GRCh37] Chr8:8p21.3 |
likely benign |
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) |
copy number gain |
Autism [RCV000626542] |
Chr8:12580104..25947329 [GRCh37] Chr8:8p23.1-21.2 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622406] |
Chr8:22163508 [GRCh38] Chr8:22021021 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 |
copy number gain |
not provided [RCV000683041] |
Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2 |
pathogenic |
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 |
copy number gain |
not provided [RCV000683042] |
Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 |
copy number gain |
not provided [RCV000683043] |
Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001317778.2(SFTPC):c.*173C>T |
single nucleotide variant |
Interstitial lung disease 2 [RCV000326755]|Osteogenesis Imperfecta, Recessive [RCV000262820]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000269681]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160357] |
Chr8:22164420 [GRCh38] Chr8:22021933 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.*174G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000272766]|Osteogenesis Imperfecta, Recessive [RCV000264445]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000314169]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160358] |
Chr8:22164421 [GRCh38] Chr8:22021934 [GRCh37] Chr8:8p21.3 |
benign |
NM_006129.4(BMP1):c.-277delG |
deletion |
Interstitial lung disease 2 [RCV000270335]|Osteogenesis Imperfecta, Recessive [RCV000324315]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000378818]|not provided [RCV001692089] |
Chr8:22165129 [GRCh38] Chr8:22022642 [GRCh37] Chr8:8p21.3 |
benign |
NM_006129.5(BMP1):c.-15C>G |
single nucleotide variant |
Interstitial lung disease 2 [RCV000295154]|Osteogenesis Imperfecta, Recessive [RCV000279542]|Osteogenesis imperfecta type 13 [RCV001162016]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000389548]|not specified [RCV000613710] |
Chr8:22165391 [GRCh38] Chr8:22022904 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.*36A>G |
single nucleotide variant |
Interstitial lung disease 2 [RCV000286310]|Osteogenesis Imperfecta, Recessive [RCV000298420]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000336558]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159015] |
Chr8:22164283 [GRCh38] Chr8:22021796 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_006129.4(BMP1):c.-126G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV000349827]|Osteogenesis Imperfecta, Recessive [RCV000372244]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000290157] |
Chr8:22165280 [GRCh38] Chr8:22022793 [GRCh37] Chr8:8p21.3 |
likely benign|uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001317778.2(SFTPC):c.43-194G>A |
single nucleotide variant |
not provided [RCV001648868] |
Chr8:22162380 [GRCh38] Chr8:22019893 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.435+148C>T |
single nucleotide variant |
not provided [RCV001681890] |
Chr8:22163694 [GRCh38] Chr8:22021207 [GRCh37] Chr8:8p21.3 |
benign |
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 |
copy number gain |
not provided [RCV000762735] |
Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000988043] |
Chr8:22163194 [GRCh38] Chr8:22020707 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NM_001317778.2(SFTPC):c.42+35G>A |
single nucleotide variant |
not provided [RCV001679912] |
Chr8:22161905 [GRCh38] Chr8:22019418 [GRCh37] Chr8:8p21.3 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001317778.2(SFTPC):c.42+14C>T |
single nucleotide variant |
not specified [RCV000825822] |
Chr8:22161884 [GRCh38] Chr8:22019397 [GRCh37] Chr8:8p21.3 |
likely benign |
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 |
copy number gain |
not provided [RCV000847279] |
Chr8:20564910..22629124 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1 |
copy number loss |
not provided [RCV000846265] |
Chr8:21077580..22144930 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3 |
copy number gain |
not provided [RCV000846113] |
Chr8:21717395..22395625 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 |
copy number loss |
not provided [RCV000849161] |
Chr8:21662847..24199218 [GRCh37] Chr8:8p21.3-21.2 |
pathogenic |
GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3 |
copy number gain |
not provided [RCV000846785] |
Chr8:21840451..22037635 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.436-125C>T |
single nucleotide variant |
not provided [RCV001641817] |
Chr8:22163776 [GRCh38] Chr8:22021289 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.42+37G>A |
single nucleotide variant |
not provided [RCV001689317] |
Chr8:22161907 [GRCh38] Chr8:22019420 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.43-247A>G |
single nucleotide variant |
not provided [RCV001694004] |
Chr8:22162327 [GRCh38] Chr8:22019840 [GRCh37] Chr8:8p21.3 |
benign |
NM_001385654.1(SFTPC):c.-53-218G>A |
single nucleotide variant |
not provided [RCV001595625] |
Chr8:22161558 [GRCh38] Chr8:22019071 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.410T>A (p.Leu137His) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000855403] |
Chr8:22163521 [GRCh38] Chr8:22021034 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001317778.2(SFTPC):c.*186G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV001160359]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160360] |
Chr8:22164433 [GRCh38] Chr8:22021946 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.43-275G>A |
single nucleotide variant |
not provided [RCV001689144] |
Chr8:22162299 [GRCh38] Chr8:22019812 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.43-87C>T |
single nucleotide variant |
not provided [RCV001715853] |
Chr8:22162487 [GRCh38] Chr8:22020000 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.201+108A>G |
single nucleotide variant |
not provided [RCV001589356] |
Chr8:22162840 [GRCh38] Chr8:22020353 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.201+49C>A |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001807510]|not provided [RCV001688605] |
Chr8:22162781 [GRCh38] Chr8:22020294 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.43-21T>C |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001807504]|not provided [RCV001686798] |
Chr8:22162553 [GRCh38] Chr8:22020066 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002375045]|Interstitial lung disease 2 [RCV001163544]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160162] |
Chr8:22162599 [GRCh38] Chr8:22020112 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001158927]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158926] |
Chr8:22163181 [GRCh38] Chr8:22020694 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.*171G>A |
single nucleotide variant |
Interstitial lung disease 2 [RCV001159017]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159018] |
Chr8:22164418 [GRCh38] Chr8:22021931 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.237G>A (p.Gln79=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001158923]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158924] |
Chr8:22163115 [GRCh38] Chr8:22020628 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.*19-39dup |
duplication |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001807502]|not provided [RCV001681518] |
Chr8:22164226..22164227 [GRCh38] Chr8:22021739..22021740 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001163632]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163633] |
Chr8:22163910 [GRCh38] Chr8:22021423 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.10G>A (p.Gly4Ser) |
single nucleotide variant |
Neonatal acute respiratory distress due to SP-B deficiency [RCV001248771] |
Chr8:22161838 [GRCh38] Chr8:22019351 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 |
copy number gain |
not provided [RCV001260030] |
Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002348853]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001257121] |
Chr8:22164013 [GRCh38] Chr8:22021526 [GRCh37] Chr8:8p21.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_001317778.2(SFTPC):c.574T>C (p.Ter192Gln) |
single nucleotide variant |
not provided [RCV001344035] |
Chr8:22164039 [GRCh38] Chr8:22021552 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.444del (p.Ala149fs) |
deletion |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001375872] |
Chr8:22163907 [GRCh38] Chr8:22021420 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) |
copy number gain |
Abnormal fetal cardiovascular morphology [RCV001291977] |
Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
NM_001317778.2(SFTPC):c.435+71G>A |
single nucleotide variant |
not provided [RCV001655056] |
Chr8:22163617 [GRCh38] Chr8:22021130 [GRCh37] Chr8:8p21.3 |
benign |
NM_001317778.2(SFTPC):c.158_190dup (p.Lys63_His64insProLeuLeuMetGlyLeuHisMetSerGlnLys) |
duplication |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001804237] |
Chr8:22162688..22162689 [GRCh38] Chr8:22020201..22020202 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.314A>T (p.Asp105Val) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV001808056] |
Chr8:22163192 [GRCh38] Chr8:22020705 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NC_000008.10:g.(?_21900440)_(23564111_?)dup |
duplication |
not provided [RCV001928022] |
Chr8:21900440..23564111 [GRCh37] Chr8:8p21.3-21.2 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:21303187-22230498) |
copy number gain |
not specified [RCV002053755] |
Chr8:21303187..22230498 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.553G>A (p.Glu185Lys) |
single nucleotide variant |
not provided [RCV001898005] |
Chr8:22164018 [GRCh38] Chr8:22021531 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.435+2T>C |
single nucleotide variant |
not provided [RCV001981011] |
Chr8:22163548 [GRCh38] Chr8:22021061 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002423012]|not provided [RCV001906643] |
Chr8:22163080 [GRCh38] Chr8:22020593 [GRCh37] Chr8:8p21.3 |
likely pathogenic|uncertain significance |
NM_001317778.2(SFTPC):c.334G>A (p.Ala112Thr) |
single nucleotide variant |
not specified [RCV002248190] |
Chr8:22163445 [GRCh38] Chr8:22020958 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.42+17G>A |
single nucleotide variant |
not provided [RCV002089508] |
Chr8:22161887 [GRCh38] Chr8:22019400 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.318C>A (p.Tyr106Ter) |
single nucleotide variant |
not specified [RCV002248189] |
Chr8:22163196 [GRCh38] Chr8:22020709 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 |
copy number gain |
not provided [RCV002279745] |
Chr8:19779604..26531980 [GRCh37] Chr8:8p21.3-21.2 |
pathogenic |
NM_001317778.2(SFTPC):c.192C>G (p.His64Gln) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV002276254] |
Chr8:22162723 [GRCh38] Chr8:22020236 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002451823] |
Chr8:22163448 [GRCh38] Chr8:22020961 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 |
copy number loss |
See cases [RCV002286343] |
Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12 |
pathogenic |
Single allele |
complex |
See cases [RCV002292428] |
Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
Single allele |
complex |
8p inverted duplication/deletion syndrome [RCV002280753] |
Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
NM_001317778.2(SFTPC):c.527G>A (p.Gly176Asp) |
single nucleotide variant |
not provided [RCV002287161] |
Chr8:22163992 [GRCh38] Chr8:22021505 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.195G>A (p.Thr65_Glu66=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002421707] |
Chr8:22162726 [GRCh38] Chr8:22020239 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.187A>G (p.Lys63Glu) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV002283993] |
Chr8:22162718 [GRCh38] Chr8:22020231 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.62G>A (p.Arg21Gln) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002368782] |
Chr8:22162593 [GRCh38] Chr8:22020106 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.264G>A (p.Leu88_Val89=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002453051] |
Chr8:22163142 [GRCh38] Chr8:22020655 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.329T>C (p.Leu110Pro) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002454674] |
Chr8:22163440 [GRCh38] Chr8:22020953 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.181A>G (p.Ser61Gly) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002410321] |
Chr8:22162712 [GRCh38] Chr8:22020225 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.351T>C (p.Pro117_Gly118=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002459318] |
Chr8:22163462 [GRCh38] Chr8:22020975 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.436-9T>G |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002328425] |
Chr8:22163892 [GRCh38] Chr8:22021405 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.380C>G (p.Ala127Gly) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002355226] |
Chr8:22163491 [GRCh38] Chr8:22021004 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.144G>A (p.Val48_Val49=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002394562] |
Chr8:22162675 [GRCh38] Chr8:22020188 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002320976] |
Chr8:22163445 [GRCh38] Chr8:22020958 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NM_001317778.2(SFTPC):c.39G>A (p.Pro13_Pro14=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002321164] |
Chr8:22161867 [GRCh38] Chr8:22019380 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.362G>C (p.Cys121Ser) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002460330] |
Chr8:22163473 [GRCh38] Chr8:22020986 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.516G>A (p.Pro172_Ala173=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002346954] |
Chr8:22163981 [GRCh38] Chr8:22021494 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.88C>T (p.Pro30Ser) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002376051] |
Chr8:22162619 [GRCh38] Chr8:22020132 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.414T>A (p.Thr138_Arg139=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002333230] |
Chr8:22163525 [GRCh38] Chr8:22021038 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.310T>C (p.Tyr104His) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002326082] |
Chr8:22163188 [GRCh38] Chr8:22020701 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.242G>A (p.Arg81His) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002450454] |
Chr8:22163120 [GRCh38] Chr8:22020633 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.476_477del (p.Glu159fs) |
microsatellite |
Hereditary pulmonary alveolar proteinosis [RCV002342683] |
Chr8:22163939..22163940 [GRCh38] Chr8:22021452..22021453 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NM_001317778.2(SFTPC):c.141C>T (p.Val47_Val48=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002391782] |
Chr8:22162672 [GRCh38] Chr8:22020185 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_001317778.2(SFTPC):c.435G>A (p.Gln145_Ala146=) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002332336] |
Chr8:22163546 [GRCh38] Chr8:22021059 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
NM_001317778.2(SFTPC):c.94C>T (p.His32Tyr) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002374126] |
Chr8:22162625 [GRCh38] Chr8:22020138 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.480dup (p.Arg161fs) |
duplication |
Hereditary pulmonary alveolar proteinosis [RCV002342936] |
Chr8:22163941..22163942 [GRCh38] Chr8:22021454..22021455 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.413_430delinsAGGTGATC (p.Thr138fs) |
indel |
Hereditary pulmonary alveolar proteinosis [RCV002333061] |
Chr8:22163524..22163541 [GRCh38] Chr8:22021037..22021054 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_001317778.2(SFTPC):c.95A>T (p.His32Leu) |
single nucleotide variant |
not provided [RCV002298223] |
Chr8:22162626 [GRCh38] Chr8:22020139 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.571A>C (p.Ile191Leu) |
single nucleotide variant |
Hereditary pulmonary alveolar proteinosis [RCV002353616] |
Chr8:22164036 [GRCh38] Chr8:22021549 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001163546]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163545]|not provided [RCV001797157] |
Chr8:22162688 [GRCh38] Chr8:22020201 [GRCh37] Chr8:8p21.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |