GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 |
copy number gain |
See cases [RCV000050636] |
Chr19:37319377..42738688 [GRCh38] Chr19:37810279..43242840 [GRCh37] Chr19:42502119..47934680 [NCBI36] Chr19:19q13.12-13.2 |
pathogenic |
NC_000019.10:g.39248147C>T |
single nucleotide variant |
boceprevir, peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy [RCV001788072]|not specified [RCV000614473]|peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy [RCV000211399]|peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy [RCV000211184] |
Chr19:39248147 [GRCh38] Chr19:39738787 [GRCh37] Chr19:19q13.2 |
benign|drug response |
NC_000019.10:g.39252525T>G |
single nucleotide variant |
interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy [RCV000211192]|not provided [RCV000835188]|peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy [RCV000211316] |
Chr19:39252525 [GRCh38] Chr19:39252525..39252526 [GRCh38] Chr19:39743165 [GRCh37] Chr19:39743165..39743166 [GRCh37] Chr19:19q13.2 |
benign|drug response |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 |
copy number gain |
See cases [RCV000239839] |
Chr19:37582250..41630908 [GRCh37] Chr19:19q13.12-13.2 |
pathogenic |
NM_172139.4(IFNL3):c.259-126T>C |
single nucleotide variant |
peginterferon alfa-2a response - Efficacy [RCV000417187]|peginterferon alfa-2b response - Efficacy [RCV000417140]|ribavirin response - Efficacy [RCV000417160] |
Chr19:39244283 [GRCh38] Chr19:39734923 [GRCh37] Chr19:19q13.2 |
drug response |
NM_172139.4(IFNL3):c.541C>T (p.Leu181Phe) |
single nucleotide variant |
not specified [RCV004312120] |
Chr19:39243682 [GRCh38] Chr19:39734322 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.451C>T (p.Leu151Phe) |
single nucleotide variant |
not specified [RCV004294283] |
Chr19:39243865 [GRCh38] Chr19:39734505 [GRCh37] Chr19:19q13.2 |
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_172139.4(IFNL3):c.209A>G (p.Lys70Arg) |
single nucleotide variant |
not provided [RCV004704116]|not specified [RCV000612255] |
Chr19:39244466 [GRCh38] Chr19:39735106 [GRCh37] Chr19:19q13.2 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_172139.4(IFNL3):c.491A>C (p.Lys164Thr) |
single nucleotide variant |
not specified [RCV004282517] |
Chr19:39243825 [GRCh38] Chr19:39734465 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.322A>G (p.Thr108Ala) |
single nucleotide variant |
not provided [RCV000971129] |
Chr19:39244094 [GRCh38] Chr19:39734734 [GRCh37] Chr19:19q13.2 |
benign |
NM_172139.4(IFNL3):c.215G>A (p.Arg72His) |
single nucleotide variant |
not provided [RCV000947941] |
Chr19:39244460 [GRCh38] Chr19:39735100 [GRCh37] Chr19:19q13.2 |
benign |
NM_172139.4(IFNL3):c.466C>T (p.His156Tyr) |
single nucleotide variant |
not provided [RCV000950845] |
Chr19:39243850 [GRCh38] Chr19:39734490 [GRCh37] Chr19:19q13.2 |
benign |
NM_172139.4(IFNL3):c.59G>C (p.Gly20Ala) |
single nucleotide variant |
not provided [RCV000966069] |
Chr19:39244909 [GRCh38] Chr19:39735549 [GRCh37] Chr19:19q13.2 |
benign |
NM_172139.4(IFNL3):c.283G>C (p.Glu95Gln) |
single nucleotide variant |
not provided [RCV000881665] |
Chr19:39244133 [GRCh38] Chr19:39734773 [GRCh37] Chr19:19q13.2 |
benign |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 |
copy number gain |
not provided [RCV000845733] |
Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
NC_000019.9:g.(?_39205089)_(40913839_?)dup |
duplication |
Type 2 diabetes mellitus [RCV003107444]|not provided [RCV003122562] |
Chr19:39205089..40913839 [GRCh37] Chr19:19q13.2 |
uncertain significance|no classifications from unflagged records |
NM_172139.4(IFNL3):c.511G>A (p.Glu171Lys) |
single nucleotide variant |
not provided [RCV000949619] |
Chr19:39243712 [GRCh38] Chr19:39734352 [GRCh37] Chr19:19q13.2 |
benign |
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 |
copy number gain |
Specific learning disability [RCV001801194] |
Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2 |
pathogenic |
NC_000019.9:g.(?_38375572)_(39738787_?)dup |
duplication |
RYR1-related disorder [RCV003111411] |
Chr19:38375572..39738787 [GRCh37] Chr19:19q13.13-13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.542T>G (p.Leu181Arg) |
single nucleotide variant |
not specified [RCV004102465] |
Chr19:39243681 [GRCh38] Chr19:39734321 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.17T>C (p.Met6Thr) |
single nucleotide variant |
not specified [RCV004188113] |
Chr19:39244951 [GRCh38] Chr19:39735591 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.449G>A (p.Arg150His) |
single nucleotide variant |
not specified [RCV004161239] |
Chr19:39243867 [GRCh38] Chr19:39734507 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.268C>T (p.Arg90Cys) |
single nucleotide variant |
not specified [RCV004168671] |
Chr19:39244148 [GRCh38] Chr19:39734788 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.443G>A (p.Arg148Gln) |
single nucleotide variant |
not specified [RCV004241555] |
Chr19:39243873 [GRCh38] Chr19:39734513 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.551G>A (p.Arg184Gln) |
single nucleotide variant |
not specified [RCV004120647] |
Chr19:39243672 [GRCh38] Chr19:39734312 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.133C>G (p.Leu45Val) |
single nucleotide variant |
not specified [RCV004279845] |
Chr19:39244835 [GRCh38] Chr19:39735475 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.487A>G (p.Lys163Glu) |
single nucleotide variant |
not specified [RCV004347092] |
Chr19:39243829 [GRCh38] Chr19:39734469 [GRCh37] Chr19:19q13.2 |
uncertain significance |
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 |
copy number gain |
not specified [RCV003986115] |
Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2 |
pathogenic |
NM_172139.4(IFNL3):c.473T>C (p.Leu158Pro) |
single nucleotide variant |
not specified [RCV004400210] |
Chr19:39243843 [GRCh38] Chr19:39734483 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.563G>A (p.Cys188Tyr) |
single nucleotide variant |
not specified [RCV004400212] |
Chr19:39243660 [GRCh38] Chr19:39734300 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.252G>C (p.Gln84His) |
single nucleotide variant |
not specified [RCV004400207] |
Chr19:39244423 [GRCh38] Chr19:39735063 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.41C>T (p.Ala14Val) |
single nucleotide variant |
not specified [RCV004400209] |
Chr19:39244927 [GRCh38] Chr19:39735567 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.477G>C (p.Gln159His) |
single nucleotide variant |
not specified [RCV004400211] |
Chr19:39243839 [GRCh38] Chr19:39734479 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.80T>A (p.Leu27His) |
single nucleotide variant |
not specified [RCV004400213] |
Chr19:39244888 [GRCh38] Chr19:39735528 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.97G>C (p.Asp33His) |
single nucleotide variant |
not specified [RCV004400214] |
Chr19:39244871 [GRCh38] Chr19:39735511 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.455A>G (p.His152Arg) |
single nucleotide variant |
not specified [RCV004635616] |
Chr19:39243861 [GRCh38] Chr19:39734501 [GRCh37] Chr19:19q13.2 |
uncertain significance |
NM_172139.4(IFNL3):c.273C>T (p.Pro91=) |
single nucleotide variant |
not specified [RCV004635617] |
Chr19:39244143 [GRCh38] Chr19:39734783 [GRCh37] Chr19:19q13.2 |
likely benign |