| NM_003018.4(SFTPC):c.417A>C (p.Arg139Ser) |
single nucleotide variant |
not specified [RCV000518943] |
Chr8:22163528 [GRCh38]
Chr8:22021041 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_003018.4(SFTPC):c.324+5G>A |
single nucleotide variant |
not specified [RCV000523865] |
Chr8:22163207 [GRCh38]
Chr8:22020720 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| SFTPC, IVS4DS, G-A, +1 |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014094] |
Chr8:8p21 |
pathogenic |
| NM_003018.4(SFTPC):c.218T>C (p.Ile73Thr) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014095]|not provided [RCV000731190] |
Chr8:22163096 [GRCh38]
Chr8:22020609 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_003018.4(SFTPC):c.500G>A (p.Arg167Gln) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000261074]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000360210]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014096] |
Chr8:22163947 [GRCh38]
Chr8:22021460 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_003018.4(SFTPC):c.563T>A (p.Leu188Gln) |
single nucleotide variant |
Surfactant metabolism dysfunction, pulmonary, 2 [RCV000014097] |
Chr8:22164010 [GRCh38]
Chr8:22021523 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_003018.4(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_003018.4(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_003018.4(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_003018.4(SFTPC):c.581T>C (p.Leu194Pro) |
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 |
Coloboma [RCV000050294]|Congenital ocular coloboma [RCV000050294]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050297]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050912]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050912]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051145]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051145]|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 |
Seizures [RCV000051206]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051110]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051110]|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 |
Abnormal facial shape [RCV000053629]|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 |
Global developmental delay [RCV000053630]|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 |
Corpus callosum agenesis [RCV000053632]|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 |
Micrognathia [RCV000053633]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053635]|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 |
Global developmental delay [RCV000053636]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|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 |
Abnormality of the heart [RCV000053599]|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 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 8p23.3-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 |
| 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_003018.4(SFTPC):c.413C>A (p.Thr138Asn) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000387624]|Osteogenesis Imperfecta, Recessive [RCV000311252]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000289134]|not specified [RCV000151856] |
Chr8:22163524 [GRCh38]
Chr8:22021037 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.436-8C>G |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000344147]|Osteogenesis Imperfecta, Recessive [RCV000352001]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000390443]|not specified [RCV000151857] |
Chr8:22163875 [GRCh38]
Chr8:22021388 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_003018.4(SFTPC):c.557G>A (p.Ser186Asn) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000277733]|Osteogenesis Imperfecta, Recessive [RCV000401939]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000367594]|not specified [RCV000151858] |
Chr8:22164004 [GRCh38]
Chr8:22021517 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_003018.4(SFTPC):c.201+14G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000358246]|Osteogenesis Imperfecta, Recessive [RCV000407806]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000303558]|not specified [RCV000151855] |
Chr8:22162746 [GRCh38]
Chr8:22020259 [GRCh37]
Chr8:8p21.3 |
benign|likely 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 |
| Single allele |
duplication |
not provided [RCV000768452] |
Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12 |
likely pathogenic |
| NM_003018.4(SFTPC):c.115G>A (p.Val39Met) |
single nucleotide variant |
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_003018.4(SFTPC):c.115G>T (p.Val39Leu) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000315399]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000351293]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000490496] |
Chr8:22162646 [GRCh38]
Chr8:22020159 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_003018.4(SFTPC):c.228G>A (p.Pro76=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000268278]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000317122] |
Chr8:22163106 [GRCh38]
Chr8:22020619 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.176A>G (p.His59Arg) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000366166]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000271807] |
Chr8:22162707 [GRCh38]
Chr8:22020220 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.*12T>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000329388]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000288374]|not specified [RCV000430447] |
Chr8:22164053 [GRCh38]
Chr8:22021566 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.463G>C (p.Ala155Pro) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000391181]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000305466] |
Chr8:22163910 [GRCh38]
Chr8:22021423 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.3(SFTPC):c.-91C>T |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000326931]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000363097] |
Chr8:22161738 [GRCh38]
Chr8:22019251 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.43-7G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000400766]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000350319]|not provided [RCV000968120]|not specified [RCV000732367] |
Chr8:22162567 [GRCh38]
Chr8:22020080 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.142G>A (p.Val48Met) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000407976]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000306866] |
Chr8:22162673 [GRCh38]
Chr8:22020186 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.3(SFTPC):c.-67C>T |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000328318]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000273172] |
Chr8:22161762 [GRCh38]
Chr8:22019275 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.439G>A (p.Glu147Lys) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000309075]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000340385] |
Chr8:22163886 [GRCh38]
Chr8:22021399 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_003018.4(SFTPC):c.351T>G (p.Pro117=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000292229]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000351790]|not provided [RCV000905522] |
Chr8:22163462 [GRCh38]
Chr8:22020975 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.570C>T (p.Gly190=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000332742]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000382771] |
Chr8:22164017 [GRCh38]
Chr8:22021530 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.3(SFTPC):c.-92C>G |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000276609]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000370990] |
Chr8:22161737 [GRCh38]
Chr8:22019250 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.541C>G (p.Leu181Val) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000262185]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000331564] |
Chr8:22163988 [GRCh38]
Chr8:22021501 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.228G>C (p.Pro76=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000263116]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000371705]|not provided [RCV000960901] |
Chr8:22163106 [GRCh38]
Chr8:22020619 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.523G>A (p.Gly175Arg) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000297514]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000356991] |
Chr8:22163970 [GRCh38]
Chr8:22021483 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_003018.4(SFTPC):c.24C>G (p.Val8=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [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_003018.4(SFTPC):c.42G>A (p.Pro14=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000375927]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000281315] |
Chr8:22161870 [GRCh38]
Chr8:22019383 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.18+13G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000340179]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000401749] |
Chr8:22164072 [GRCh38]
Chr8:22021585 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.4(SFTPC):c.288C>T (p.Ile96=) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000386911]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000318335]|not provided [RCV000898546] |
Chr8:22163166 [GRCh38]
Chr8:22020679 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.18+12G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000282848]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000383994] |
Chr8:22164071 [GRCh38]
Chr8:22021584 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_003018.3(SFTPC):c.-56_-55dupAA |
duplication |
Idiopathic fibrosing alveolitis, chronic form [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 |
Idiopathic fibrosing alveolitis, chronic form [RCV000392960]|Osteogenesis Imperfecta, Recessive [RCV000346624]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000311642] |
Chr8:22161695 [GRCh38]
Chr8:22019208 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_006129.4(BMP1):c.-170A>G |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [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_003018.4(SFTPC):c.*193C>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000378056]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000320881] |
Chr8:22164440 [GRCh38]
Chr8:22021953 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_003018.4(SFTPC):c.*173C>T |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000326755]|Osteogenesis Imperfecta, Recessive [RCV000262820]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000269681] |
Chr8:22164420 [GRCh38]
Chr8:22021933 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.*174G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000272766]|Osteogenesis Imperfecta, Recessive [RCV000264445]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000314169] |
Chr8:22164421 [GRCh38]
Chr8:22021934 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_003018.4(SFTPC):c.-26_-24GAG[1] |
microsatellite |
Idiopathic fibrosing alveolitis, chronic form [RCV000379517]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000323776] |
Chr8:22161803..22161805 [GRCh38]
Chr8:22019316..22019318 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_006129.4(BMP1):c.-277delG |
deletion |
Idiopathic fibrosing alveolitis, chronic form [RCV000270335]|Osteogenesis Imperfecta, Recessive [RCV000324315]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000378818] |
Chr8:22165129 [GRCh38]
Chr8:22022642 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_006129.5(BMP1):c.-15C>G |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000295154]|Osteogenesis Imperfecta, Recessive [RCV000279542]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000389548]|not specified [RCV000613710] |
Chr8:22165391 [GRCh38]
Chr8:22022904 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_003018.4(SFTPC):c.*36A>G |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000286310]|Osteogenesis Imperfecta, Recessive [RCV000298420]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000336558] |
Chr8:22164283 [GRCh38]
Chr8:22021796 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_006129.4(BMP1):c.-126G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000349827]|Osteogenesis Imperfecta, Recessive [RCV000372244]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000290157] |
Chr8:22165280 [GRCh38]
Chr8:22022793 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| Single allele |
variation |
Osteogenesis Imperfecta, Recessive [RCV000299240] |
Chr8:22021933..22021934 [GRCh37] |
benign |
| NM_003018.4(SFTPC):c.*123G>A |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000301511]|Osteogenesis Imperfecta, Recessive [RCV000353332]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000398642] |
Chr8:22164370 [GRCh38]
Chr8:22021883 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_003018.4(SFTPC):c.573G>A (p.Glu191=) |
single nucleotide variant |
not specified [RCV000596064] |
Chr8:22164020 [GRCh38]
Chr8:22021533 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_003018.4(SFTPC):c.163C>T (p.Leu55Phe) |
single nucleotide variant |
Muscular Diseases [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_003018.4(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 |
Autistic disorder of childhood onset [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_003018.4(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 |
| 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 |
| 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 |
| 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_003018.4(SFTPC):c.316T>C (p.Tyr106His) |
single nucleotide variant |
Idiopathic fibrosing alveolitis, chronic form [RCV000988043] |
Chr8:22163194 [GRCh38]
Chr8:22020707 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_003018.4(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_003018.4(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 |
Gene-Chemical Interaction Annotations
