| NM_000146.4(FTL):c.169G>A (p.Glu57Lys) |
single nucleotide variant |
FTL-related disorder [RCV004751285]|Hereditary hyperferritinemia with congenital cataracts [RCV000395171]|Hereditary hyperferritinemia with congenital cataracts [RCV003103735]|Neuroferritinopathy [RCV000311515]|not provided [RCV000861621]|not specified [RCV003323416]|sporadic abdominal aortic aneurysm [RCV000144502] |
Chr19:48965836 [GRCh38]
Chr19:49469093 [GRCh37]
Chr19:19q13.33 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_000146.4(FTL):c.163T>C (p.Leu55=) |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000370536]|Hereditary hyperferritinemia with congenital cataracts [RCV000369896]|Hereditary hyperferritinemia with congenital cataracts [RCV001516688]|L-ferritin deficiency [RCV001701526]|Neuroferritinopathy [RCV000315169]|not provided [RCV000839535]|not specified [RCV000146000]|sporadic abdominal aortic aneurysm [RCV000144503] |
Chr19:48965830 [GRCh38]
Chr19:49469087 [GRCh37]
Chr19:19q13.33 |
likely pathogenic|benign |
| NM_000146.4(FTL):c.-182C>T |
single nucleotide variant |
not specified [RCV003479167] |
Chr19:48965326 [GRCh38]
Chr19:49468583 [GRCh37]
Chr19:19q13.33 |
pathogenic|uncertain significance |
| FTL, 1-BP INS, 460A |
insertion |
Neuroferritinopathy [RCV000017947] |
Chr19:19q13.3-q13.4 |
pathogenic |
| NM_000146.4(FTL):c.498_499dup (p.Phe167fs) |
microsatellite |
Neuroferritinopathy [RCV000017951] |
Chr19:48966701..48966702 [GRCh38]
Chr19:49469958..49469959 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-160A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000017938]|Hereditary hyperferritinemia with congenital cataracts [RCV001061778]|not provided [RCV002274882] |
Chr19:48965348 [GRCh38]
Chr19:49468605 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-159G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000017939] |
Chr19:48965349 [GRCh38]
Chr19:49468606 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-168G>A |
single nucleotide variant |
FTL-related disorder [RCV004751214]|Hereditary hyperferritinemia with congenital cataracts [RCV000017940]|Hereditary hyperferritinemia with congenital cataracts [RCV001380757]|not provided [RCV001723575] |
Chr19:48965340 [GRCh38]
Chr19:49468597 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.-189_-161del |
deletion |
Hereditary hyperferritinemia with congenital cataracts [RCV000017942] |
Chr19:48965318..48965346 [GRCh38]
Chr19:49468575..49468603 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-168G>T |
single nucleotide variant |
FTL-related disorder [RCV003398536]|Hereditary hyperferritinemia with congenital cataracts [RCV000017943]|Hereditary hyperferritinemia with congenital cataracts [RCV001386171]|not provided [RCV001093251] |
Chr19:48965340 [GRCh38]
Chr19:49468597 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-161C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000017944]|Hereditary hyperferritinemia with congenital cataracts [RCV001036071]|Hereditary hyperferritinemia with congenital cataracts [RCV002482882]|not provided [RCV004597729] |
Chr19:48965347 [GRCh38]
Chr19:49468604 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.-164C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000017945]|Hereditary hyperferritinemia with congenital cataracts [RCV000817309] |
Chr19:48965344 [GRCh38]
Chr19:49468601 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.-149G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000017946]|Hereditary hyperferritinemia with congenital cataracts [RCV002482883]|Hereditary hyperferritinemia with congenital cataracts [RCV003764586] |
Chr19:48965359 [GRCh38]
Chr19:49468616 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.-175_-170del |
deletion |
Hereditary hyperferritinemia with congenital cataracts [RCV000017948] |
Chr19:48965330..48965335 [GRCh38]
Chr19:49468587..49468592 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-168G>C |
single nucleotide variant |
FTL-related disorder [RCV004751215]|Hereditary hyperferritinemia with congenital cataracts [RCV000017949]|Hereditary hyperferritinemia with congenital cataracts [RCV002513089]|not provided [RCV003231107] |
Chr19:48965340 [GRCh38]
Chr19:49468597 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.286G>A (p.Ala96Thr) |
single nucleotide variant |
Neuroferritinopathy [RCV000017950] |
Chr19:48966317 [GRCh38]
Chr19:49469574 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.469_484dup (p.Leu162fs) |
duplication |
Hereditary hyperferritinemia with congenital cataracts [RCV005222690]|Neuroferritinopathy [RCV000017952] |
Chr19:48966675..48966676 [GRCh38]
Chr19:49469932..49469933 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.458dup (p.His153fs) |
duplication |
Neuroferritinopathy [RCV000017953] |
Chr19:48966664..48966665 [GRCh38]
Chr19:49469921..49469922 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.89C>T (p.Thr30Ile) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000032783] |
Chr19:48965596 [GRCh38]
Chr19:49468853 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 |
copy number gain |
See cases [RCV000052913] |
Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33 |
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_000146.4(FTL):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001857397]|L-ferritin deficiency [RCV000082857]|not provided [RCV003884347]|not specified [RCV004586545] |
Chr19:48965508 [GRCh38]
Chr19:49468765 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000146.4(FTL):c.310G>T (p.Glu104Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002513857]|L-ferritin deficiency, autosomal recessive [RCV000082858] |
Chr19:48966341 [GRCh38]
Chr19:49469598 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-164C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000082859] |
Chr19:48965344 [GRCh38]
Chr19:49468601 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-46C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000405174]|Hereditary hyperferritinemia with congenital cataracts [RCV001859952]|Neuroferritinopathy [RCV000280711] |
Chr19:48965462 [GRCh38]
Chr19:49468719 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.522C>T (p.His174=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000271711]|Hereditary hyperferritinemia with congenital cataracts [RCV000860900]|Neuroferritinopathy [RCV000366284]|not provided [RCV001200237]|not specified [RCV001723916] |
Chr19:48966729 [GRCh38]
Chr19:49469986 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_000146.4(FTL):c.*131A>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000283858]|Neuroferritinopathy [RCV000378331] |
Chr19:48966866 [GRCh38]
Chr19:49470123 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.73C>T (p.Leu25=) |
single nucleotide variant |
FTL-related disorder [RCV003940317]|Hereditary hyperferritinemia with congenital cataracts [RCV000395341]|Hereditary hyperferritinemia with congenital cataracts [RCV002523072]|Neuroferritinopathy [RCV000336294]|not provided [RCV000861279] |
Chr19:48965580 [GRCh38]
Chr19:49468837 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_000146.4(FTL):c.*24C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000323478]|Neuroferritinopathy [RCV000268371] |
Chr19:48966759 [GRCh38]
Chr19:49470016 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_000146.4(FTL):c.92A>G (p.Tyr31Cys) |
single nucleotide variant |
not provided [RCV000585013] |
Chr19:48965599 [GRCh38]
Chr19:49468856 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.250-6A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001130968]|Hereditary hyperferritinemia with congenital cataracts [RCV001453279]|Neuroferritinopathy [RCV001130967]|not provided [RCV000488041] |
Chr19:48966275 [GRCh38]
Chr19:49469532 [GRCh37]
Chr19:19q13.33 |
benign|likely benign|uncertain significance |
| NM_002103.5(GYS1):c.*301G>A |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000304771]|Hereditary hyperferritinemia with congenital cataracts [RCV000308508]|Neuroferritinopathy [RCV000390061] |
Chr19:48968987 [GRCh38]
Chr19:49472244 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_002103.5(GYS1):c.*370A>C |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394546]|Hereditary hyperferritinemia with congenital cataracts [RCV000312141]|Neuroferritinopathy [RCV000366661] |
Chr19:48968918 [GRCh38]
Chr19:49472175 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_002103.5(GYS1):c.*868A>G |
single nucleotide variant |
FTL-related disorder [RCV003897755]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000351727]|Hereditary hyperferritinemia with congenital cataracts [RCV000359249]|Neuroferritinopathy [RCV000320960] |
Chr19:48968420 [GRCh38]
Chr19:49471677 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_002103.5(GYS1):c.2043C>T (p.Ala681=) |
single nucleotide variant |
GYS1-related disorder [RCV003950317]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000963024]|Hereditary hyperferritinemia with congenital cataracts [RCV000359703]|Neuroferritinopathy [RCV000323667]|not provided [RCV003409562]|not specified [RCV000417882] |
Chr19:48969459 [GRCh38]
Chr19:49472716 [GRCh37]
Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002103.5(GYS1):c.*659C>T |
single nucleotide variant |
FTL-related disorder [RCV003897756]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394568]|Hereditary hyperferritinemia with congenital cataracts [RCV000384998]|Neuroferritinopathy [RCV000328102] |
Chr19:48968629 [GRCh38]
Chr19:49471886 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_000146.4(FTL):c.-92T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000339129]|Hereditary hyperferritinemia with congenital cataracts [RCV003765907]|Neuroferritinopathy [RCV000284053] |
Chr19:48965416 [GRCh38]
Chr19:49468673 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_002103.5(GYS1):c.*421A>G |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130379]|Hereditary hyperferritinemia with congenital cataracts [RCV000394121]|Neuroferritinopathy [RCV000351852] |
Chr19:48968867 [GRCh38]
Chr19:49472124 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_002103.5(GYS1):c.*908G>A |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000278073]|Hereditary hyperferritinemia with congenital cataracts [RCV000263403]|Neuroferritinopathy [RCV000355645]|not provided [RCV001785575] |
Chr19:48968380 [GRCh38]
Chr19:49471637 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_002103.5(GYS1):c.2013C>T (p.Asp671=) |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000355806]|Hereditary hyperferritinemia with congenital cataracts [RCV000264999]|Neuroferritinopathy [RCV000319738]|not provided [RCV001705495] |
Chr19:48969489 [GRCh38]
Chr19:49472746 [GRCh37]
Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002103.5(GYS1):c.*841A>G |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000387720]|Hereditary hyperferritinemia with congenital cataracts [RCV000266955]|Neuroferritinopathy [RCV000324564]|not provided [RCV001778920] |
Chr19:48968447 [GRCh38]
Chr19:49471704 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_002103.5(GYS1):c.2207G>A (p.Arg736His) |
single nucleotide variant |
GYS1-related disorder [RCV004751472]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000303344]|Hereditary hyperferritinemia with congenital cataracts [RCV000268611]|Neuroferritinopathy [RCV000363216] |
Chr19:48969295 [GRCh38]
Chr19:49472552 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_000146.4(FTL):c.370_373del (p.Pro124fs) |
deletion |
not provided [RCV000522692] |
Chr19:48966400..48966403 [GRCh38]
Chr19:49469657..49469660 [GRCh37]
Chr19:19q13.33 |
likely pathogenic |
| NM_002103.5(GYS1):c.*450G>A |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000344476]|Hereditary hyperferritinemia with congenital cataracts [RCV000394131]|Neuroferritinopathy [RCV000278136]|not provided [RCV002051841] |
Chr19:48968838 [GRCh38]
Chr19:49472095 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_002103.5(GYS1):c.1848C>T (p.Ala616=) |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000276081]|Hereditary hyperferritinemia with congenital cataracts [RCV000389587]|Neuroferritinopathy [RCV000316270]|not provided [RCV001706535] |
Chr19:48969817 [GRCh38]
Chr19:49473074 [GRCh37]
Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002103.5(GYS1):c.1926G>A (p.Val642=) |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000373018]|Hereditary hyperferritinemia with congenital cataracts [RCV000374442]|Neuroferritinopathy [RCV000279916]|not provided [RCV004703797]|not specified [RCV000421901] |
Chr19:48969576 [GRCh38]
Chr19:49472833 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_002103.5(GYS1):c.*611C>T |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130377]|Hereditary hyperferritinemia with congenital cataracts [RCV000281817]|Neuroferritinopathy [RCV000336803] |
Chr19:48968677 [GRCh38]
Chr19:49471934 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_002103.5(GYS1):c.*725C>T |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000348400]|Hereditary hyperferritinemia with congenital cataracts [RCV000381402]|Neuroferritinopathy [RCV000289397]|not provided [RCV001672557] |
Chr19:48968563 [GRCh38]
Chr19:49471820 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) |
single nucleotide variant |
GYS1-related disorder [RCV003940318]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000333417]|Hereditary hyperferritinemia with congenital cataracts [RCV000386131]|Neuroferritinopathy [RCV000291234]|not provided [RCV001706536] |
Chr19:48970958 [GRCh38]
Chr19:49474215 [GRCh37]
Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002103.5(GYS1):c.1749C>A (p.Ile583=) |
single nucleotide variant |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000645191]|Hereditary hyperferritinemia with congenital cataracts [RCV000350253]|Neuroferritinopathy [RCV000295273]|not provided [RCV004703913]|not specified [RCV000424879] |
Chr19:48970606 [GRCh38]
Chr19:49473863 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_002103.5(GYS1):c.*1113_*1116del |
deletion |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000320078]|Hereditary hyperferritinemia with congenital cataracts [RCV000400213]|Neuroferritinopathy [RCV000298481]|not provided [RCV001859953] |
Chr19:48968172..48968175 [GRCh38]
Chr19:49471429..49471432 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 19q13.33(chr19:49447713-49470073)x1 |
copy number loss |
not provided [RCV000752724] |
Chr19:49447713..49470073 [GRCh37]
Chr19:19q13.33 |
benign |
| FTL, -182C-T AND -178T-G |
single nucleotide variant |
Hyperferritinemia cataract syndrome [RCV000017941] |
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.207G>A (p.Met69Ile) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002524039]|not provided [RCV000493330] |
Chr19:48965874 [GRCh38]
Chr19:49469131 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.194G>A (p.Arg65His) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000641706] |
Chr19:48965861 [GRCh38]
Chr19:49469118 [GRCh37]
Chr19:19q13.33 |
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_000146.4(FTL):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003281357] |
Chr19:48966285 [GRCh38]
Chr19:49469542 [GRCh37]
Chr19:19q13.33 |
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_000146.4(FTL):c.96C>T (p.Leu32=) |
single nucleotide variant |
not provided [RCV000513104] |
Chr19:48965603 [GRCh38]
Chr19:49468860 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.436G>A (p.Gly146Ser) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005213367]|not provided [RCV000658847] |
Chr19:48966643 [GRCh38]
Chr19:49469900 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.502G>T (p.Glu168Ter) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000685530] |
Chr19:48966709 [GRCh38]
Chr19:49469966 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| GRCh37/hg19 19q13.33(chr19:49389934-49477474)x1 |
copy number loss |
not provided [RCV000752723] |
Chr19:49389934..49477474 [GRCh37]
Chr19:19q13.33 |
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 |
| NM_000146.4(FTL):c.250-126G>A |
single nucleotide variant |
not provided [RCV001565852] |
Chr19:48966155 [GRCh38]
Chr19:49469412 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.103-14A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001135292]|Hereditary hyperferritinemia with congenital cataracts [RCV005213465]|Neuroferritinopathy [RCV001135293] |
Chr19:48965756 [GRCh38]
Chr19:49469013 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_000146.4(FTL):c.520C>T (p.His174Tyr) |
single nucleotide variant |
FTL-related disorder [RCV004751848]|Hereditary hyperferritinemia with congenital cataracts [RCV002068707]|Inborn genetic diseases [RCV002549620] |
Chr19:48966727 [GRCh38]
Chr19:49469984 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.249+3A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001066371] |
Chr19:48965919 [GRCh38]
Chr19:49469176 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.87C>T (p.Tyr29=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001425532] |
Chr19:48965594 [GRCh38]
Chr19:49468851 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.376C>G (p.Leu126Val) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000811916] |
Chr19:48966583 [GRCh38]
Chr19:49469840 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.(?_48966261)_(48966755_?)del |
deletion |
Hereditary hyperferritinemia with congenital cataracts [RCV000816613] |
Chr19:48966261..48966755 [GRCh38]
Chr19:49469518..49470012 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.190G>A (p.Glu64Lys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003768460]|not provided [RCV003411724]|not specified [RCV000784897] |
Chr19:48965857 [GRCh38]
Chr19:49469114 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 |
copy number gain |
not provided [RCV000848800] |
Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-86C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001133800]|Neuroferritinopathy [RCV001133801] |
Chr19:48965422 [GRCh38]
Chr19:49468679 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.*76G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001133927]|Neuroferritinopathy [RCV001133928] |
Chr19:48966811 [GRCh38]
Chr19:49470068 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-157G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000802043] |
Chr19:48965351 [GRCh38]
Chr19:49468608 [GRCh37]
Chr19:19q13.33 |
pathogenic|uncertain significance |
| NM_000146.4(FTL):c.103-14A>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001135291]|Neuroferritinopathy [RCV001135290] |
Chr19:48965756 [GRCh38]
Chr19:49469013 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_000146.4(FTL):c.181G>A (p.Glu61Lys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001130255]|Neuroferritinopathy [RCV001130256] |
Chr19:48965848 [GRCh38]
Chr19:49469105 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.232C>T (p.Leu78Phe) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001130258]|Neuroferritinopathy [RCV001130257] |
Chr19:48965899 [GRCh38]
Chr19:49469156 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.324C>T (p.Asn108=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001130970]|Neuroferritinopathy [RCV001130969] |
Chr19:48966355 [GRCh38]
Chr19:49469612 [GRCh37]
Chr19:19q13.33 |
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_000146.4(FTL):c.-167C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001238029]|Hereditary hyperferritinemia with congenital cataracts [RCV002290654] |
Chr19:48965341 [GRCh38]
Chr19:49468598 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NC_000019.10:g.48965095C>A |
single nucleotide variant |
FTL-related disorder [RCV003980818]|not provided [RCV001639481] |
Chr19:48965095 [GRCh38]
Chr19:49468352 [GRCh37]
Chr19:19q13.33 |
benign |
| NM_000146.4(FTL):c.12G>C (p.Gln4His) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001210349] |
Chr19:48965519 [GRCh38]
Chr19:49468776 [GRCh37]
Chr19:19q13.33 |
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_000146.4(FTL):c.234C>T (p.Leu78=) |
single nucleotide variant |
FTL-related disorder [RCV003898130]|Hereditary hyperferritinemia with congenital cataracts [RCV001130965]|Hereditary hyperferritinemia with congenital cataracts [RCV003769242]|Neuroferritinopathy [RCV001130966]|not provided [RCV004717753] |
Chr19:48965901 [GRCh38]
Chr19:49469158 [GRCh37]
Chr19:19q13.33 |
benign|likely benign |
| NM_000146.4(FTL):c.466G>A (p.Gly156Ser) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001220297] |
Chr19:48966673 [GRCh38]
Chr19:49469930 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.302T>C (p.Met101Thr) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001234239] |
Chr19:48966333 [GRCh38]
Chr19:49469590 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-186C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001133797]|Hereditary hyperferritinemia with congenital cataracts [RCV005225239]|Neuroferritinopathy [RCV001133796] |
Chr19:48965322 [GRCh38]
Chr19:49468579 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.362G>A (p.Arg121His) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001130972]|Hereditary hyperferritinemia with congenital cataracts [RCV003769243]|Inborn genetic diseases [RCV004032287]|Neuroferritinopathy [RCV001130971]|not provided [RCV004809021] |
Chr19:48966393 [GRCh38]
Chr19:49469650 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_000146.4(FTL):c.-173C>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001133799]|Hereditary hyperferritinemia with congenital cataracts [RCV003769260]|Neuroferritinopathy [RCV001133798] |
Chr19:48965335 [GRCh38]
Chr19:49468592 [GRCh37]
Chr19:19q13.33 |
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_000146.4(FTL):c.473C>T (p.Pro158Leu) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001317101] |
Chr19:48966680 [GRCh38]
Chr19:49469937 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.155T>G (p.Phe52Cys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001871934]|Inborn genetic diseases [RCV002548515]|not provided [RCV001356574] |
Chr19:48965822 [GRCh38]
Chr19:49469079 [GRCh37]
Chr19:19q13.33 |
likely benign|uncertain significance |
| NM_000146.4(FTL):c.-139C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001373431] |
Chr19:48965369 [GRCh38]
Chr19:49468626 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.261A>C (p.Glu87Asp) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001297871] |
Chr19:48966292 [GRCh38]
Chr19:49469549 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-166T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001360710] |
Chr19:48965342 [GRCh38]
Chr19:49468599 [GRCh37]
Chr19:19q13.33 |
likely pathogenic|uncertain significance |
| NM_000146.4(FTL):c.-148G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001307245] |
Chr19:48965360 [GRCh38]
Chr19:49468617 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.178C>T (p.Arg60Cys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001344579] |
Chr19:48965845 [GRCh38]
Chr19:49469102 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48966943G>A |
single nucleotide variant |
not provided [RCV001681567] |
Chr19:48966943 [GRCh38]
Chr19:49470200 [GRCh37]
Chr19:19q13.33 |
benign |
| NM_000146.4(FTL):c.299C>T (p.Ala100Val) |
single nucleotide variant |
not provided [RCV001755077] |
Chr19:48966330 [GRCh38]
Chr19:49469587 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.172G>T (p.Glu58Ter) |
single nucleotide variant |
not provided [RCV001727109] |
Chr19:48965839 [GRCh38]
Chr19:49469096 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.-105A>G |
single nucleotide variant |
not provided [RCV004784629] |
Chr19:48965403 [GRCh38]
Chr19:49468660 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-150C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003094061]|not provided [RCV002247206] |
Chr19:48965358 [GRCh38]
Chr19:49468615 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.143T>G (p.Val48Gly) |
single nucleotide variant |
not provided [RCV003237504] |
Chr19:48965810 [GRCh38]
Chr19:49469067 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.485_489dup (p.Glu164fs) |
microsatellite |
Neuroferritinopathy [RCV001775440] |
Chr19:48966683..48966684 [GRCh38]
Chr19:49469940..49469941 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.358_375+6del |
deletion |
not provided [RCV001761267] |
Chr19:48966388..48966411 [GRCh38]
Chr19:49469645..49469668 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965159G>A |
single nucleotide variant |
not provided [RCV001733088] |
Chr19:48965159 [GRCh38]
Chr19:49468416 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.390G>C (p.Leu130=) |
single nucleotide variant |
not provided [RCV001815864] |
Chr19:48966597 [GRCh38]
Chr19:49469854 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-161C>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001779413] |
Chr19:48965347 [GRCh38]
Chr19:49468604 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.-161_-160del |
deletion |
not provided [RCV001758193] |
Chr19:48965346..48965347 [GRCh38]
Chr19:49468603..49468604 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.173dup (p.Lys59fs) |
duplication |
not specified [RCV001815120] |
Chr19:48965839..48965840 [GRCh38]
Chr19:49469096..49469097 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.139G>C (p.Gly47Arg) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002043850] |
Chr19:48965806 [GRCh38]
Chr19:49469063 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-153G>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002041353] |
Chr19:48965355 [GRCh38]
Chr19:49468612 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-190C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002044027] |
Chr19:48965318 [GRCh38]
Chr19:49468575 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.379T>C (p.Cys127Arg) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002045647] |
Chr19:48966586 [GRCh38]
Chr19:49469843 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.263A>G (p.Asp88Gly) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002045829] |
Chr19:48966294 [GRCh38]
Chr19:49469551 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001889722] |
Chr19:48966730 [GRCh38]
Chr19:49469987 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-196G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002002954] |
Chr19:48965312 [GRCh38]
Chr19:49468569 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-193C>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002043898] |
Chr19:48965315 [GRCh38]
Chr19:49468572 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965277C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001914317] |
Chr19:48965277 [GRCh38]
Chr19:49468534 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965263G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001963403] |
Chr19:48965263 [GRCh38]
Chr19:49468520 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.17G>A (p.Arg6His) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002034992] |
Chr19:48965524 [GRCh38]
Chr19:49468781 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.139G>T (p.Gly47Cys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002037375] |
Chr19:48965806 [GRCh38]
Chr19:49469063 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.113T>C (p.Phe38Ser) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002011379] |
Chr19:48965780 [GRCh38]
Chr19:49469037 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-184C>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001935441] |
Chr19:48965324 [GRCh38]
Chr19:49468581 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.124G>A (p.Asp42Asn) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001956619] |
Chr19:48965791 [GRCh38]
Chr19:49469048 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-177C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001921038] |
Chr19:48965331 [GRCh38]
Chr19:49468588 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.247A>G (p.Lys83Glu) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001922173] |
Chr19:48965914 [GRCh38]
Chr19:49469171 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.375+5G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002015970] |
Chr19:48966411 [GRCh38]
Chr19:49469668 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-170T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001935663] |
Chr19:48965338 [GRCh38]
Chr19:49468595 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.375+4C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001899072] |
Chr19:48966410 [GRCh38]
Chr19:49469667 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-189G>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002010817] |
Chr19:48965319 [GRCh38]
Chr19:49468576 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-134A>T |
single nucleotide variant |
FTL-related disorder [RCV003416589]|Hereditary hyperferritinemia with congenital cataracts [RCV001918975] |
Chr19:48965374 [GRCh38]
Chr19:49468631 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.492G>T (p.Glu164Asp) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001955368] |
Chr19:48966699 [GRCh38]
Chr19:49469956 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-51dup |
duplication |
Hereditary hyperferritinemia with congenital cataracts [RCV001924854] |
Chr19:48965456..48965457 [GRCh38]
Chr19:49468713..49468714 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.218G>T (p.Arg73Leu) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002012367] |
Chr19:48965885 [GRCh38]
Chr19:49469142 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.9:g.(?_48618906)_(50921204_?)dup |
duplication |
Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] |
Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.256G>C (p.Ala86Pro) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV001917897] |
Chr19:48966287 [GRCh38]
Chr19:49469544 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.42G>A (p.Glu14=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002190234] |
Chr19:48965549 [GRCh38]
Chr19:49468806 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-121C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002109488]|not provided [RCV004763331] |
Chr19:48965387 [GRCh38]
Chr19:49468644 [GRCh37]
Chr19:19q13.33 |
benign|uncertain significance |
| NM_000146.4(FTL):c.102+14A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002168292] |
Chr19:48965623 [GRCh38]
Chr19:49468880 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.249+9T>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002193066] |
Chr19:48965925 [GRCh38]
Chr19:49469182 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NC_000019.10:g.48965306del |
deletion |
Hereditary hyperferritinemia with congenital cataracts [RCV002076561]|not provided [RCV005242183] |
Chr19:48965303 [GRCh38]
Chr19:49468560 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.311A>G (p.Glu104Gly) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003101327]|not specified [RCV002247845] |
Chr19:48966342 [GRCh38]
Chr19:49469599 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.319C>T (p.Leu107=) |
single nucleotide variant |
FTL-related disorder [RCV004752162]|Hereditary hyperferritinemia with congenital cataracts [RCV002104177] |
Chr19:48966350 [GRCh38]
Chr19:49469607 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.199C>T (p.Leu67=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002204153] |
Chr19:48965866 [GRCh38]
Chr19:49469123 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NC_000019.9:g.(?_49468350)_(49481434_?)del |
deletion |
Hereditary hyperferritinemia with congenital cataracts [RCV003119414] |
Chr19:49468350..49481434 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.439_442dup (p.His148fs) |
duplication |
Neuroferritinopathy [RCV002269808] |
Chr19:48966645..48966646 [GRCh38]
Chr19:49469902..49469903 [GRCh37]
Chr19:19q13.33 |
not provided |
| NM_000146.4(FTL):c.460dup (p.Arg154fs) |
duplication |
Hereditary hyperferritinemia with congenital cataracts [RCV003096106]|Neuroferritinopathy [RCV002269810] |
Chr19:48966666..48966667 [GRCh38]
Chr19:49469923..49469924 [GRCh37]
Chr19:19q13.33 |
pathogenic|not provided |
| NM_000146.4(FTL):c.213C>A (p.Asn71Lys) |
single nucleotide variant |
not specified [RCV003236375] |
Chr19:48965880 [GRCh38]
Chr19:49469137 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.474G>A (p.Pro158=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003096107]|Neuroferritinopathy [RCV002269811] |
Chr19:48966681 [GRCh38]
Chr19:49469938 [GRCh37]
Chr19:19q13.33 |
likely benign|not provided |
| NM_000146.4(FTL):c.442dup (p.His148fs) |
duplication |
Neuroferritinopathy [RCV002269809] |
Chr19:48966647..48966648 [GRCh38]
Chr19:49469904..49469905 [GRCh37]
Chr19:19q13.33 |
not provided |
| NM_000146.4(FTL):c.-189G>C |
single nucleotide variant |
not provided [RCV002300975] |
Chr19:48965319 [GRCh38]
Chr19:49468576 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-24T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002512449] |
Chr19:48965484 [GRCh38]
Chr19:49468741 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-111C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002726207] |
Chr19:48965397 [GRCh38]
Chr19:49468654 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs) |
indel |
Hereditary hyperferritinemia with congenital cataracts [RCV002903025] |
Chr19:48966667..48966668 [GRCh38]
Chr19:49469924..49469925 [GRCh37]
Chr19:19q13.33 |
pathogenic |
| NM_000146.4(FTL):c.515_516del (p.Leu172fs) |
microsatellite |
Hereditary hyperferritinemia with congenital cataracts [RCV003014830] |
Chr19:48966719..48966720 [GRCh38]
Chr19:49469976..49469977 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965303C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003081481] |
Chr19:48965303 [GRCh38]
Chr19:49468560 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.272G>T (p.Gly91Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002822402] |
Chr19:48966303 [GRCh38]
Chr19:49469560 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.285C>T (p.Asp95=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002912559] |
Chr19:48966316 [GRCh38]
Chr19:49469573 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-151A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002637620] |
Chr19:48965357 [GRCh38]
Chr19:49468614 [GRCh37]
Chr19:19q13.33 |
pathogenic|likely pathogenic |
| NM_000146.4(FTL):c.71A>T (p.Tyr24Phe) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002953072] |
Chr19:48965578 [GRCh38]
Chr19:49468835 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.501C>T (p.Phe167=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002644146] |
Chr19:48966708 [GRCh38]
Chr19:49469965 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-56G>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002645692] |
Chr19:48965452 [GRCh38]
Chr19:49468709 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-126C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003023245] |
Chr19:48965382 [GRCh38]
Chr19:49468639 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-153G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003041377] |
Chr19:48965355 [GRCh38]
Chr19:49468612 [GRCh37]
Chr19:19q13.33 |
likely pathogenic|uncertain significance |
| NM_000146.4(FTL):c.375+15C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002700532] |
Chr19:48966421 [GRCh38]
Chr19:49469678 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.430A>C (p.Lys144Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002893246] |
Chr19:48966637 [GRCh38]
Chr19:49469894 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.249+6T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003084145] |
Chr19:48965922 [GRCh38]
Chr19:49469179 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.375T>C (p.His125=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003084204] |
Chr19:48966406 [GRCh38]
Chr19:49469663 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.288C>T (p.Ala96=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002932095] |
Chr19:48966319 [GRCh38]
Chr19:49469576 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-9C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002890913] |
Chr19:48965499 [GRCh38]
Chr19:49468756 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.417G>A (p.Val139=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002627843] |
Chr19:48966624 [GRCh38]
Chr19:49469881 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-143G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002922086] |
Chr19:48965365 [GRCh38]
Chr19:49468622 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.463C>T (p.Leu155=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002581037]|not provided [RCV005242259] |
Chr19:48966670 [GRCh38]
Chr19:49469927 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NC_000019.10:g.48965263G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002899531] |
Chr19:48965263 [GRCh38]
Chr19:49468520 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.189C>A (p.Tyr63Ter) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002603118] |
Chr19:48965856 [GRCh38]
Chr19:49469113 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.253C>T (p.Pro85Ser) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003092470] |
Chr19:48966284 [GRCh38]
Chr19:49469541 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.271G>T (p.Gly91Cys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV002586055] |
Chr19:48966302 [GRCh38]
Chr19:49469559 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.402C>A (p.Phe134Leu) |
single nucleotide variant |
not provided [RCV004781459] |
Chr19:48966609 [GRCh38]
Chr19:49469866 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
not provided [RCV003222998] |
Chr19:48965860 [GRCh38]
Chr19:49469117 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.296C>G (p.Ala99Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003193850] |
Chr19:48966327 [GRCh38]
Chr19:49469584 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.320T>G (p.Leu107Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003369417] |
Chr19:48966351 [GRCh38]
Chr19:49469608 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.231T>G (p.Ala77=) |
single nucleotide variant |
not specified [RCV003479612] |
Chr19:48965898 [GRCh38]
Chr19:49469155 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-184C>T |
single nucleotide variant |
not provided [RCV003425315] |
Chr19:48965324 [GRCh38]
Chr19:49468581 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.361C>T (p.Arg121Cys) |
single nucleotide variant |
not provided [RCV003457041] |
Chr19:48966392 [GRCh38]
Chr19:49469649 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.248A>G (p.Lys83Arg) |
single nucleotide variant |
not provided [RCV003425317] |
Chr19:48965915 [GRCh38]
Chr19:49469172 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.93C>T (p.Tyr31=) |
single nucleotide variant |
not provided [RCV003425316] |
Chr19:48965600 [GRCh38]
Chr19:49468857 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965270G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003794992] |
Chr19:48965270 [GRCh38]
Chr19:49468527 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.229G>A (p.Ala77Thr) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003790615] |
Chr19:48965896 [GRCh38]
Chr19:49469153 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.156C>T (p.Phe52=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003794223] |
Chr19:48965823 [GRCh38]
Chr19:49469080 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.102G>A (p.Leu34=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003784608] |
Chr19:48965609 [GRCh38]
Chr19:49468866 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-10C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003804652] |
Chr19:48965498 [GRCh38]
Chr19:49468755 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.391G>A (p.Glu131Lys) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003806687] |
Chr19:48966598 [GRCh38]
Chr19:49469855 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.488G>A (p.Gly163Asp) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003806835] |
Chr19:48966695 [GRCh38]
Chr19:49469952 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-186C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003788005] |
Chr19:48965322 [GRCh38]
Chr19:49468579 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965301dup |
duplication |
Hereditary hyperferritinemia with congenital cataracts [RCV003804266] |
Chr19:48965300..48965301 [GRCh38]
Chr19:49468557..49468558 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.102+20C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003787006] |
Chr19:48965629 [GRCh38]
Chr19:49468886 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.376-11T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003788939] |
Chr19:48966572 [GRCh38]
Chr19:49469829 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-95C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003787610] |
Chr19:48965413 [GRCh38]
Chr19:49468670 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965305C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003783053] |
Chr19:48965305 [GRCh38]
Chr19:49468562 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-144A>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003786919] |
Chr19:48965364 [GRCh38]
Chr19:49468621 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-181G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003798192] |
Chr19:48965327 [GRCh38]
Chr19:49468584 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.249+4A>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003798728] |
Chr19:48965920 [GRCh38]
Chr19:49469177 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.376-15C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003798661]|not specified [RCV003994588] |
Chr19:48966568 [GRCh38]
Chr19:49469825 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-17CTT[1] |
microsatellite |
not specified [RCV003994905] |
Chr19:48965491..48965493 [GRCh38]
Chr19:49468748..49468750 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-179G>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003803760] |
Chr19:48965329 [GRCh38]
Chr19:49468586 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.336G>A (p.Leu112=) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV003803476] |
Chr19:48966367 [GRCh38]
Chr19:49469624 [GRCh37]
Chr19:19q13.33 |
likely benign |
| GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 |
copy number gain |
not specified [RCV003986127] |
Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41 |
likely pathogenic |
| NC_000019.10:g.48968921G>A |
single nucleotide variant |
FTL-related disorder [RCV003896327] |
Chr19:48968921 [GRCh38]
Chr19:49472178 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.47C>T (p.Ala16Val) |
single nucleotide variant |
not specified [RCV003994900] |
Chr19:48965554 [GRCh38]
Chr19:49468811 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.48C>G (p.Ala16=) |
single nucleotide variant |
FTL-related disorder [RCV003936890]|Hereditary hyperferritinemia with congenital cataracts [RCV005216153] |
Chr19:48965555 [GRCh38]
Chr19:49468812 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NC_000019.10:g.48968167G>C |
single nucleotide variant |
FTL-related disorder [RCV003967199] |
Chr19:48968167 [GRCh38]
Chr19:49471424 [GRCh37]
Chr19:19q13.33 |
benign |
| NM_000146.4(FTL):c.290T>C (p.Met97Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004387217] |
Chr19:48966321 [GRCh38]
Chr19:49469578 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.335T>C (p.Leu112Ser) |
single nucleotide variant |
not provided [RCV004697631] |
Chr19:48966366 [GRCh38]
Chr19:49469623 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.388del (p.Leu130fs) |
deletion |
not provided [RCV004760144] |
|
uncertain significance |
| NM_000146.4(FTL):c.-144A>G |
single nucleotide variant |
not provided [RCV004771844] |
Chr19:48965364 [GRCh38]
Chr19:49468621 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48968927C>T |
single nucleotide variant |
FTL-related disorder [RCV004752445] |
Chr19:48968927 [GRCh38]
Chr19:49472184 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.166G>C (p.Ala56Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004980246] |
Chr19:48965833 [GRCh38]
Chr19:49469090 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.38T>G (p.Val13Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004983595] |
Chr19:48965545 [GRCh38]
Chr19:49468802 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.272G>A (p.Gly91Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004980247] |
Chr19:48966303 [GRCh38]
Chr19:49469560 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-125C>A |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005210266] |
Chr19:48965383 [GRCh38]
Chr19:49468640 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NC_000019.10:g.48965260T>G |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005228835] |
Chr19:48965260 [GRCh38]
Chr19:49468517 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.249+8G>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005214139] |
Chr19:48965924 [GRCh38]
Chr19:49469181 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-155T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005212832] |
Chr19:48965353 [GRCh38]
Chr19:49468610 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.80C>A (p.Ala27Asp) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005225001] |
Chr19:48965587 [GRCh38]
Chr19:49468844 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.250-12C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005228631] |
Chr19:48966269 [GRCh38]
Chr19:49469526 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.103-4G>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005217207] |
Chr19:48965766 [GRCh38]
Chr19:49469023 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.250-7T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005221904] |
Chr19:48966274 [GRCh38]
Chr19:49469531 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.-120T>C |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005224224] |
Chr19:48965388 [GRCh38]
Chr19:49468645 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.242A>G (p.Asp81Gly) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005216698] |
Chr19:48965909 [GRCh38]
Chr19:49469166 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.251A>G (p.Lys84Arg) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005218880] |
Chr19:48966282 [GRCh38]
Chr19:49469539 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.-167_-153del |
deletion |
Hereditary hyperferritinemia with congenital cataracts [RCV005221414] |
Chr19:48965338..48965352 [GRCh38]
Chr19:49468595..49468609 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.375+15C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005224327] |
Chr19:48966421 [GRCh38]
Chr19:49469678 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.375+8C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005219550] |
Chr19:48966414 [GRCh38]
Chr19:49469671 [GRCh37]
Chr19:19q13.33 |
likely benign |
| NM_000146.4(FTL):c.47C>A (p.Ala16Asp) |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV005219943] |
Chr19:48965554 [GRCh38]
Chr19:49468811 [GRCh37]
Chr19:19q13.33 |
uncertain significance |
| NM_000146.4(FTL):c.*8C>T |
single nucleotide variant |
Hereditary hyperferritinemia with congenital cataracts [RCV000327111]|Neuroferritinopathy [RCV000145999] |
Chr19:48966743 [GRCh38]
Chr19:49470000 [GRCh37]
Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
