| NM_001194.4(HCN2):c.1167T>C (p.Pro389=) |
single nucleotide variant |
not provided [RCV001643536] |
Chr19:605171 [GRCh38]
Chr19:605171 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1571G>A (p.Gly524Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002525155]|not provided [RCV000521631] |
Chr19:610392 [GRCh38]
Chr19:610392 [GRCh37]
Chr19:19p13.3 |
likely benign|uncertain significance |
| GRCh38/hg38 19p13.3(chr19:259395-819679)x3 |
copy number gain |
See cases [RCV000051144] |
Chr19:259395..819679 [GRCh38]
Chr19:259395..819679 [GRCh37]
Chr19:210395..770679 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 |
copy number gain |
See cases [RCV000051044] |
Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 |
copy number gain |
See cases [RCV000052877] |
Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 |
copy number gain |
See cases [RCV000052875] |
Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] |
Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 |
copy number gain |
See cases [RCV000052575] |
Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] |
Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 |
copy number loss |
See cases [RCV000053910] |
Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 |
copy number gain |
See cases [RCV000134894] |
Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3 |
likely pathogenic |
| GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 |
copy number gain |
See cases [RCV000141358] |
Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 |
copy number gain |
See cases [RCV000142627] |
Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.2144CGC[4] (p.Pro719_Pro721del) |
microsatellite |
Febrile seizures, familial, 2 [RCV001640392]|not provided [RCV000884646]|not specified [RCV000239034] |
Chr19:615947..615955 [GRCh38]
Chr19:615947..615955 [GRCh37]
Chr19:19p13.3 |
pathogenic|benign |
| GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 |
copy number gain |
See cases [RCV000239425] |
Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 |
copy number gain |
See cases [RCV000240507] |
Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.377C>G (p.Ser126Trp) |
single nucleotide variant |
not provided [RCV002292973] |
Chr19:590322 [GRCh38]
Chr19:590322 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2167G>A (p.Val723Ile) |
single nucleotide variant |
not provided [RCV000418676] |
Chr19:615971 [GRCh38]
Chr19:615971 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.433G>C (p.Gly145Arg) |
single nucleotide variant |
not provided [RCV000440051] |
Chr19:590378 [GRCh38]
Chr19:590378 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1584+7C>T |
single nucleotide variant |
HCN2-related condition [RCV003970261]|not specified [RCV000454612] |
Chr19:610412 [GRCh38]
Chr19:610412 [GRCh37]
Chr19:19p13.3 |
benign|likely benign |
| NM_001194.4(HCN2):c.2332G>C (p.Ala778Pro) |
single nucleotide variant |
not specified [RCV000455083] |
Chr19:616136 [GRCh38]
Chr19:616136 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.246C>T (p.Cys82=) |
single nucleotide variant |
not specified [RCV000455740] |
Chr19:590191 [GRCh38]
Chr19:590191 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1628C>T (p.Pro543Leu) |
single nucleotide variant |
not provided [RCV000478576] |
Chr19:613291 [GRCh38]
Chr19:613291 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:415092-715725)x3 |
copy number gain |
See cases [RCV000511102] |
Chr19:415092..715725 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2359C>T (p.Pro787Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003240474] |
Chr19:616163 [GRCh38]
Chr19:616163 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1745A>T (p.Tyr582Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003282523] |
Chr19:613408 [GRCh38]
Chr19:613408 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:259395-3152419) |
copy number gain |
Global developmental delay [RCV000626520] |
Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3 |
likely pathogenic |
| GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 |
copy number gain |
not provided [RCV000513059] |
Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3 |
likely pathogenic |
| 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(chr19:260911-3200875)x3 |
copy number gain |
not provided [RCV000684094] |
Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3 |
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 |
| GRCh37/hg19 19p13.3(chr19:572671-622207)x3 |
copy number gain |
not provided [RCV000739938] |
Chr19:572671..622207 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:572671-663929)x3 |
copy number gain |
not provided [RCV000739939] |
Chr19:572671..663929 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:572671-757752)x3 |
copy number gain |
not provided [RCV000739940] |
Chr19:572671..757752 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:578208-622207)x4 |
copy number gain |
not provided [RCV000739941] |
Chr19:578208..622207 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:578208-675106)x3 |
copy number gain |
not provided [RCV000739942] |
Chr19:578208..675106 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:578668-675106)x3 |
copy number gain |
not provided [RCV000739943] |
Chr19:578668..675106 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:585805-622207)x4 |
copy number gain |
not provided [RCV000739944] |
Chr19:585805..622207 [GRCh37]
Chr19:19p13.3 |
benign |
| 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_001194.4(HCN2):c.963C>T (p.Arg321=) |
single nucleotide variant |
not provided [RCV001692871] |
Chr19:603874 [GRCh38]
Chr19:603874 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1895C>G (p.Ser632Trp) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV001637972] |
Chr19:613921 [GRCh38]
Chr19:613921 [GRCh37]
Chr19:19p13.3 |
pathogenic|risk factor |
| GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 |
copy number gain |
not provided [RCV000752449] |
Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:454430-617466)x3 |
copy number gain |
not provided [RCV000752450] |
Chr19:454430..617466 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1731C>T (p.Ile577=) |
single nucleotide variant |
not provided [RCV000925043] |
Chr19:613394 [GRCh38]
Chr19:613394 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1572G>A (p.Gly524=) |
single nucleotide variant |
not provided [RCV000921429] |
Chr19:610393 [GRCh38]
Chr19:610393 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1991-4G>T |
single nucleotide variant |
not provided [RCV000971664] |
Chr19:615791 [GRCh38]
Chr19:615791 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.2144CGC[8] (p.Pro721dup) |
microsatellite |
not provided [RCV000968754] |
Chr19:615946..615947 [GRCh38]
Chr19:615946..615947 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1692C>T (p.Val564=) |
single nucleotide variant |
not provided [RCV000930161] |
Chr19:613355 [GRCh38]
Chr19:613355 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3(chr19:260911-1319319) |
copy number loss |
Peutz-Jeghers syndrome [RCV002280635] |
Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.2304C>T (p.Ala768=) |
single nucleotide variant |
not provided [RCV000915889] |
Chr19:616108 [GRCh38]
Chr19:616108 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1143C>T (p.Asp381=) |
single nucleotide variant |
not provided [RCV000915888] |
Chr19:605147 [GRCh38]
Chr19:605147 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 |
copy number gain |
not provided [RCV001007025] |
Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 |
copy number gain |
not provided [RCV000846988] |
Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NC_000019.9:g.(?_589946)_(4818389_?)dup |
duplication |
not provided [RCV003105391] |
Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_589946)_(2151333_?)dup |
duplication |
Cyclical neutropenia [RCV003107569] |
Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1452G>A (p.Glu484=) |
single nucleotide variant |
not provided [RCV001676427] |
Chr19:610273 [GRCh38]
Chr19:610273 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.2371C>A (p.Arg791=) |
single nucleotide variant |
not provided [RCV000908400] |
Chr19:616175 [GRCh38]
Chr19:616175 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1239G>A (p.Leu413=) |
single nucleotide variant |
not provided [RCV000948465] |
Chr19:607984 [GRCh38]
Chr19:607984 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.2625G>T (p.Leu875=) |
single nucleotide variant |
not provided [RCV000957798] |
Chr19:616429 [GRCh38]
Chr19:616429 [GRCh37]
Chr19:19p13.3 |
benign|likely benign |
| NM_001194.4(HCN2):c.1950C>T (p.Arg650=) |
single nucleotide variant |
not provided [RCV000914018] |
Chr19:613976 [GRCh38]
Chr19:613976 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.2225T>C (p.Val742Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002748763] |
Chr19:616029 [GRCh38]
Chr19:616029 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1291G>A (p.Gly431Ser) |
single nucleotide variant |
not provided [RCV002467024] |
Chr19:608036 [GRCh38]
Chr19:608036 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.915C>T (p.Phe305=) |
single nucleotide variant |
not provided [RCV001676376] |
Chr19:603826 [GRCh38]
Chr19:603826 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.227G>A (p.Arg76His) |
single nucleotide variant |
not provided [RCV001717954] |
Chr19:590172 [GRCh38]
Chr19:590172 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.2253G>C (p.Ala751=) |
single nucleotide variant |
not provided [RCV001673466] |
Chr19:616057 [GRCh38]
Chr19:616057 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.921C>T (p.Ile307=) |
single nucleotide variant |
not provided [RCV001678563] |
Chr19:603832 [GRCh38]
Chr19:603832 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 |
copy number gain |
See cases [RCV001007443] |
Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1889T>C (p.Leu630Pro) |
single nucleotide variant |
not provided [RCV001195829] |
Chr19:613915 [GRCh38]
Chr19:613915 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1543G>A (p.Glu515Lys) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV001637974] |
Chr19:610364 [GRCh38]
Chr19:610364 [GRCh37]
Chr19:19p13.3 |
risk factor |
| NM_001194.4(HCN2):c.377C>T (p.Ser126Leu) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV001637971] |
Chr19:590322 [GRCh38]
Chr19:590322 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.736G>A (p.Val246Met) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV001637973] |
Chr19:603647 [GRCh38]
Chr19:603647 [GRCh37]
Chr19:19p13.3 |
risk factor |
| NM_001194.4(HCN2):c.858T>C (p.Tyr286=) |
single nucleotide variant |
not provided [RCV001616355] |
Chr19:603769 [GRCh38]
Chr19:603769 [GRCh37]
Chr19:19p13.3 |
benign |
| NC_000019.9:g.(?_589926)_(1401495_?)dup |
duplication |
Cerebral creatine deficiency syndrome [RCV001032652] |
Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:352288-633755)x3 |
copy number gain |
not provided [RCV001259375] |
Chr19:352288..633755 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3(chr19:414714-713630)x3 |
copy number gain |
not provided [RCV001259376] |
Chr19:414714..713630 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 |
copy number gain |
See cases [RCV002285065] |
Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1120A>C (p.Met374Leu) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003770369]|Neurodevelopmental disorder [RCV001263003] |
Chr19:605124 [GRCh38]
Chr19:605124 [GRCh37]
Chr19:19p13.3 |
pathogenic|uncertain significance |
| NM_001194.4(HCN2):c.1384G>A (p.Ala462Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001266658] |
Chr19:608129 [GRCh38]
Chr19:608129 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2575C>T (p.Pro859Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266662] |
Chr19:616379 [GRCh38]
Chr19:616379 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_603544)_(610405_?)dup |
duplication |
not provided [RCV001374001] |
Chr19:603544..610405 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_589926)_(1401495_?)dup |
duplication |
Cerebral creatine deficiency syndrome [RCV001307813] |
Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1367C>T (p.Ala456Val) |
single nucleotide variant |
not provided [RCV001786665] |
Chr19:608112 [GRCh38]
Chr19:608112 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2149C>T (p.Pro717Ser) |
single nucleotide variant |
Seizure [RCV001281485] |
Chr19:615953 [GRCh38]
Chr19:615953 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1438-16C>G |
single nucleotide variant |
not provided [RCV001540885] |
Chr19:610243 [GRCh38]
Chr19:610243 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1418G>A (p.Arg473Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002568948]|See cases [RCV001542410] |
Chr19:608163 [GRCh38]
Chr19:608163 [GRCh37]
Chr19:19p13.3 |
likely benign|uncertain significance |
| NM_005795.6(CALCRL):c.782-58T>C |
deletion |
Febrile seizures, familial, 2 [RCV001637970] |
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1239G>C (p.Leu413=) |
single nucleotide variant |
not provided [RCV001615872] |
Chr19:607984 [GRCh38]
Chr19:607984 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.378G>T (p.Ser126=) |
single nucleotide variant |
not provided [RCV001615748] |
Chr19:590323 [GRCh38]
Chr19:590323 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.571C>T (p.Arg191Cys) |
single nucleotide variant |
not provided [RCV001754973] |
Chr19:590516 [GRCh38]
Chr19:590516 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.137G>C (p.Gly46Ala) |
single nucleotide variant |
not provided [RCV003238584] |
Chr19:590082 [GRCh38]
Chr19:590082 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2020G>A (p.Val674Met) |
single nucleotide variant |
not provided [RCV001760894] |
Chr19:615824 [GRCh38]
Chr19:615824 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1792G>A (p.Glu598Lys) |
single nucleotide variant |
not provided [RCV001773400] |
Chr19:613455 [GRCh38]
Chr19:613455 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.970C>T (p.Arg324Cys) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003771974]|not provided [RCV001774117] |
Chr19:603881 [GRCh38]
Chr19:603881 [GRCh37]
Chr19:19p13.3 |
pathogenic|uncertain significance |
| NM_001194.4(HCN2):c.1286G>A (p.Gly429Glu) |
single nucleotide variant |
not provided [RCV001770577] |
Chr19:608031 [GRCh38]
Chr19:608031 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1432_1434del (p.Glu478del) |
deletion |
HCN2 related developmental and epileptic encephalopathy [RCV003772053]|Neurodevelopmental delay [RCV003223427]|not provided [RCV001774575] |
Chr19:608175..608177 [GRCh38]
Chr19:608175..608177 [GRCh37]
Chr19:19p13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001194.4(HCN2):c.1504G>A (p.Asp502Asn) |
single nucleotide variant |
not provided [RCV001761071] |
Chr19:610325 [GRCh38]
Chr19:610325 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1106A>G (p.Asn369Ser) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003772049]|not provided [RCV001766043] |
Chr19:605110 [GRCh38]
Chr19:605110 [GRCh37]
Chr19:19p13.3 |
likely pathogenic|uncertain significance |
| NM_001194.4(HCN2):c.143_144del (p.Gly48fs) |
deletion |
not provided [RCV003238583] |
Chr19:590087..590088 [GRCh38]
Chr19:590087..590088 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2135G>A (p.Gly712Asp) |
single nucleotide variant |
not provided [RCV001758278] |
Chr19:615939 [GRCh38]
Chr19:615939 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1644C>T (p.Ala548=) |
single nucleotide variant |
not provided [RCV001806525] |
Chr19:613307 [GRCh38]
Chr19:613307 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1348G>T (p.Val450Leu) |
single nucleotide variant |
Febrile seizure (within the age range of 3 months to 6 years) [RCV001825234] |
Chr19:608093 [GRCh38]
Chr19:608093 [GRCh37]
Chr19:19p13.3 |
not provided |
| NC_000019.9:g.(?_589946)_(1650247_?)dup |
duplication |
not provided [RCV001940167] |
Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_589946)_(1106571_?)del |
deletion |
Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] |
Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3 |
pathogenic|uncertain significance |
| NM_001194.4(HCN2):c.2279G>A (p.Arg760His) |
single nucleotide variant |
HCN2-associated Epilepsy syndrome [RCV002227810] |
Chr19:616083 [GRCh38]
Chr19:616083 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_589946)_(5696788_?)dup |
duplication |
not provided [RCV003113597] |
Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1417C>T (p.Arg473Trp) |
single nucleotide variant |
Seizure [RCV002275909] |
Chr19:608162 [GRCh38]
Chr19:608162 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.790C>T (p.Arg264Cys) |
single nucleotide variant |
not provided [RCV003236222] |
Chr19:603701 [GRCh38]
Chr19:603701 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2087A>G (p.Lys696Arg) |
single nucleotide variant |
not provided [RCV002263127] |
Chr19:615891 [GRCh38]
Chr19:615891 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1946G>C (p.Arg649Pro) |
single nucleotide variant |
not provided [RCV003128892] |
Chr19:613972 [GRCh38]
Chr19:613972 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2387G>T (p.Gly796Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003257885] |
Chr19:616191 [GRCh38]
Chr19:616191 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1001T>A (p.Leu334His) |
single nucleotide variant |
not provided [RCV002464764] |
Chr19:603912 [GRCh38]
Chr19:603912 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2295C>T (p.Pro765=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446258] |
Chr19:616099 [GRCh38]
Chr19:616099 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2304C>G (p.Ala768=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446362] |
Chr19:616108 [GRCh38]
Chr19:616108 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.90C>T (p.Pro30=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450013] |
Chr19:590035 [GRCh38]
Chr19:590035 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.274A>C (p.Ser92Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002728131] |
Chr19:590219 [GRCh38]
Chr19:590219 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2162C>T (p.Pro721Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002689758] |
Chr19:615966 [GRCh38]
Chr19:615966 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2159C>T (p.Pro720Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002687303] |
Chr19:615963 [GRCh38]
Chr19:615963 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2374A>T (p.Thr792Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002733403] |
Chr19:616178 [GRCh38]
Chr19:616178 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.350C>G (p.Pro117Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002864017] |
Chr19:590295 [GRCh38]
Chr19:590295 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.277A>C (p.Thr93Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002728132] |
Chr19:590222 [GRCh38]
Chr19:590222 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.382C>G (p.Arg128Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002738856] |
Chr19:590327 [GRCh38]
Chr19:590327 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2224G>A (p.Val742Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002951326] |
Chr19:616028 [GRCh38]
Chr19:616028 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.449G>C (p.Gly150Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002757568] |
Chr19:590394 [GRCh38]
Chr19:590394 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002926412] |
Chr19:590052 [GRCh38]
Chr19:590052 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.2435G>A (p.Arg812His) |
single nucleotide variant |
Inborn genetic diseases [RCV002759586] |
Chr19:616239 [GRCh38]
Chr19:616239 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.421G>T (p.Ala141Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002926447] |
Chr19:590366 [GRCh38]
Chr19:590366 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2242G>C (p.Gly748Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002691361] |
Chr19:616046 [GRCh38]
Chr19:616046 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2240T>A (p.Val747Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002745209] |
Chr19:616044 [GRCh38]
Chr19:616044 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.455C>T (p.Ala152Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002712171] |
Chr19:590400 [GRCh38]
Chr19:590400 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2588G>A (p.Arg863His) |
single nucleotide variant |
Inborn genetic diseases [RCV002743985] |
Chr19:616392 [GRCh38]
Chr19:616392 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2381C>G (p.Pro794Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002768286] |
Chr19:616185 [GRCh38]
Chr19:616185 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2150C>A (p.Pro717Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002641043] |
Chr19:615954 [GRCh38]
Chr19:615954 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1855A>T (p.Thr619Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002826413] |
Chr19:613881 [GRCh38]
Chr19:613881 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2348C>T (p.Ala783Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002698038] |
Chr19:616152 [GRCh38]
Chr19:616152 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1956C>A (p.Phe652Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002712209] |
Chr19:613982 [GRCh38]
Chr19:613982 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2417C>T (p.Pro806Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002941861] |
Chr19:616221 [GRCh38]
Chr19:616221 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2398G>A (p.Ala800Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002897009] |
Chr19:616202 [GRCh38]
Chr19:616202 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.259A>C (p.Thr87Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002746841] |
Chr19:590204 [GRCh38]
Chr19:590204 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2363G>C (p.Arg788Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002965472] |
Chr19:616167 [GRCh38]
Chr19:616167 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.793A>T (p.Thr265Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002717467] |
Chr19:603704 [GRCh38]
Chr19:603704 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2290G>A (p.Gly764Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002961726] |
Chr19:616094 [GRCh38]
Chr19:616094 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.63GCC[8] (p.Pro28_Ala29insPro) |
microsatellite |
Inborn genetic diseases [RCV002988961] |
Chr19:590007..590008 [GRCh38]
Chr19:590007..590008 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.409G>C (p.Gly137Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002965414] |
Chr19:590354 [GRCh38]
Chr19:590354 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1750A>C (p.Ile584Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002719341] |
Chr19:613413 [GRCh38]
Chr19:613413 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2375C>G (p.Thr792Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002747867] |
Chr19:616179 [GRCh38]
Chr19:616179 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.422C>T (p.Ala141Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002792977] |
Chr19:590367 [GRCh38]
Chr19:590367 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2330C>G (p.Pro777Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002656083] |
Chr19:616134 [GRCh38]
Chr19:616134 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2623C>G (p.Leu875Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003255523] |
Chr19:616427 [GRCh38]
Chr19:616427 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1215G>A (p.Met405Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003190408] |
Chr19:605219 [GRCh38]
Chr19:605219 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.615C>A (p.His205Gln) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003223347] |
Chr19:590560 [GRCh38]
Chr19:590560 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1760G>A (p.Gly587Asp) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003223352] |
Chr19:613423 [GRCh38]
Chr19:613423 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1478C>T (p.Pro493Leu) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003223351] |
Chr19:610299 [GRCh38]
Chr19:610299 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1936_1937insT (p.Pro646fs) |
insertion |
HCN2 related developmental and epileptic encephalopathy [RCV003223353] |
Chr19:613962..613963 [GRCh38]
Chr19:613962..613963 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.301G>A (p.Glu101Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003206127] |
Chr19:590246 [GRCh38]
Chr19:590246 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.971G>A (p.Arg324His) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003223348] |
Chr19:603882 [GRCh38]
Chr19:603882 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.2144CGC[10] (p.Pro721_Gln722insProProPro) |
microsatellite |
Epilepsy, idiopathic generalized, susceptibility to, 17 [RCV003492827] |
Chr19:615946..615947 [GRCh38]
Chr19:615946..615947 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.17G>T (p.Gly6Val) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 17 [RCV003492825] |
Chr19:589962 [GRCh38]
Chr19:589962 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2386G>T (p.Gly796Cys) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 17 [RCV003492826]|Inborn genetic diseases [RCV003162196] |
Chr19:616190 [GRCh38]
Chr19:616190 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2375C>A (p.Thr792Asn) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 17 [RCV003492828] |
Chr19:616179 [GRCh38]
Chr19:616179 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1336C>G (p.Leu446Val) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 17 [RCV003492829] |
Chr19:608081 [GRCh38]
Chr19:608081 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1682A>G (p.Lys561Arg) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV003225891] |
Chr19:613345 [GRCh38]
Chr19:613345 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2318G>C (p.Gly773Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003192974] |
Chr19:616122 [GRCh38]
Chr19:616122 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2584G>A (p.Asp862Asn) |
single nucleotide variant |
not provided [RCV003223892] |
Chr19:616388 [GRCh38]
Chr19:616388 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1088C>T (p.Ala363Val) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003223349] |
Chr19:605092 [GRCh38]
Chr19:605092 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1226C>T (p.Ser409Leu) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003223350] |
Chr19:607971 [GRCh38]
Chr19:607971 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001194.4(HCN2):c.1087G>A (p.Ala363Thr) |
single nucleotide variant |
not provided [RCV003322065] |
Chr19:605091 [GRCh38]
Chr19:605091 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2150C>T (p.Pro717Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003309007] |
Chr19:615954 [GRCh38]
Chr19:615954 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.2433_2448del (p.Leu813fs) |
deletion |
Febrile seizures, familial, 2 [RCV003322726] |
Chr19:616230..616245 [GRCh38]
Chr19:616230..616245 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2384A>G (p.Tyr795Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003266070] |
Chr19:616188 [GRCh38]
Chr19:616188 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1641del (p.Asn547fs) |
deletion |
Febrile seizures, familial, 2 [RCV003322710] |
Chr19:613304 [GRCh38]
Chr19:613304 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.443A>T (p.Glu148Val) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV003326325] |
Chr19:590388 [GRCh38]
Chr19:590388 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.728C>T (p.Pro243Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003354454] |
Chr19:603639 [GRCh38]
Chr19:603639 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1990+24_1990+57dup |
duplication |
not provided [RCV003875071] |
Chr19:614028..614029 [GRCh38]
Chr19:614028..614029 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 |
copy number gain |
not provided [RCV003485190] |
Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:260912-713630)x1 |
copy number loss |
not provided [RCV003483344] |
Chr19:260912..713630 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1561G>A (p.Glu521Lys) |
single nucleotide variant |
not provided [RCV003442235] |
Chr19:610382 [GRCh38]
Chr19:610382 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1543G>T (p.Glu515Ter) |
single nucleotide variant |
HCN2-related condition [RCV003402392] |
Chr19:610364 [GRCh38]
Chr19:610364 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1338C>T (p.Leu446=) |
single nucleotide variant |
HCN2-related condition [RCV003929097]|not provided [RCV003421684] |
Chr19:608083 [GRCh38]
Chr19:608083 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1415C>T (p.Ser472Leu) |
single nucleotide variant |
not provided [RCV003421685] |
Chr19:608160 [GRCh38]
Chr19:608160 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.371C>T (p.Ser124Leu) |
single nucleotide variant |
not specified [RCV003405042] |
Chr19:590316 [GRCh38]
Chr19:590316 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1657G>A (p.Val553Ile) |
single nucleotide variant |
Febrile seizures, familial, 2 [RCV003448743] |
Chr19:613320 [GRCh38]
Chr19:613320 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.449G>T (p.Gly150Val) |
single nucleotide variant |
Cardiomyopathy [RCV003448935] |
Chr19:590394 [GRCh38]
Chr19:590394 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2657C>G (p.Ser886Trp) |
single nucleotide variant |
not provided [RCV003441530] |
Chr19:616461 [GRCh38]
Chr19:616461 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1533G>C (p.Lys511Asn) |
single nucleotide variant |
HCN2-related condition [RCV003391405] |
Chr19:610354 [GRCh38]
Chr19:610354 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1379G>A (p.Gly460Asp) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003881671] |
Chr19:608124 [GRCh38]
Chr19:608124 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 |
copy number loss |
not specified [RCV003986113] |
Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 |
copy number gain |
not specified [RCV003986107] |
Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1656C>T (p.Phe552=) |
single nucleotide variant |
HCN2-related condition [RCV003949780] |
Chr19:613319 [GRCh38]
Chr19:613319 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1569C>T (p.Asn523=) |
single nucleotide variant |
HCN2-related condition [RCV003943964] |
Chr19:610390 [GRCh38]
Chr19:610390 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.764T>G (p.Phe255Cys) |
single nucleotide variant |
HCN2-related condition [RCV003896281] |
Chr19:603675 [GRCh38]
Chr19:603675 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1281C>T (p.Cys427=) |
single nucleotide variant |
HCN2-related condition [RCV003934745] |
Chr19:608026 [GRCh38]
Chr19:608026 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1991-14_1991-3dup |
duplication |
HCN2-related condition [RCV003936790] |
Chr19:615777..615778 [GRCh38]
Chr19:615777..615778 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1638C>T (p.Ala546=) |
single nucleotide variant |
HCN2-related condition [RCV003912077] |
Chr19:613301 [GRCh38]
Chr19:613301 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1989C>T (p.Ile663=) |
single nucleotide variant |
HCN2-related condition [RCV003931521] |
Chr19:614015 [GRCh38]
Chr19:614015 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.1218+6C>T |
single nucleotide variant |
HCN2-related condition [RCV003964346] |
Chr19:605228 [GRCh38]
Chr19:605228 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001194.4(HCN2):c.1916A>C (p.Asn639Thr) |
single nucleotide variant |
HCN2-related condition [RCV003898915] |
Chr19:613942 [GRCh38]
Chr19:613942 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1171C>T (p.Leu391=) |
single nucleotide variant |
HCN2-related condition [RCV003941654] |
Chr19:605175 [GRCh38]
Chr19:605175 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3(chr19:496500-590577)x3 |
copy number gain |
not provided [RCV003885485] |
Chr19:496500..590577 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1503C>T (p.His501=) |
single nucleotide variant |
HCN2-related condition [RCV003926765] |
Chr19:610324 [GRCh38]
Chr19:610324 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 |
copy number gain |
See cases [RCV000135433] |
Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 |
copy number gain |
See cases [RCV000511452] |
Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3 |
likely pathogenic |
| 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_001194.4(HCN2):c.1130T>A (p.Leu377His) |
single nucleotide variant |
HCN2 related developmental and epileptic encephalopathy [RCV003770239]|not provided [RCV001203638] |
Chr19:605134 [GRCh38]
Chr19:605134 [GRCh37]
Chr19:19p13.3 |
pathogenic|uncertain significance |
| NM_001194.4(HCN2):c.1421G>A (p.Arg474His) |
single nucleotide variant |
not provided [RCV003129493] |
Chr19:608166 [GRCh38]
Chr19:608166 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.129C>T (p.Pro43=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380751] |
Chr19:590074 [GRCh38]
Chr19:590074 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001194.4(HCN2):c.29C>G (p.Pro10Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002920966] |
Chr19:589974 [GRCh38]
Chr19:589974 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1400dup (p.Ser468fs) |
duplication |
not provided [RCV003154442] |
Chr19:608144..608145 [GRCh38]
Chr19:608144..608145 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2311T>C (p.Ser771Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003191663] |
Chr19:616115 [GRCh38]
Chr19:616115 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003210897]|not provided [RCV003443183] |
Chr19:608165 [GRCh38]
Chr19:608165 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001194.4(HCN2):c.2165A>C (p.Gln722Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003351181] |
Chr19:615969 [GRCh38]
Chr19:615969 [GRCh37]
Chr19:19p13.3 |
likely benign |
