NC_000019.10:g.35746423del |
deletion |
Acne inversa, familial, 2 [RCV000023658] |
Chr19:35746418 [GRCh38] Chr19:36237319 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_172341.4(PSENEN):c.279del (p.Phe94fs) |
deletion |
Acne inversa, familial, 2 [RCV000023659] |
Chr19:35746819 [GRCh38] Chr19:36237720 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_144987.3(U2AF1L4):c.501C>T (p.Pro167=) |
single nucleotide variant |
Malignant melanoma [RCV000072095] |
Chr19:35742706 [GRCh38] Chr19:36233607 [GRCh37] Chr19:40925447 [NCBI36] Chr19:19q13.12 |
not provided |
NC_000019.10:g.35746423dup |
duplication |
Acne inversa, familial, 2 [RCV000515755] |
Chr19:35746417..35746418 [GRCh38] Chr19:36237318..36237319 [GRCh37] Chr19:19q13.12 |
pathogenic |
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 |
NM_172341.4(PSENEN):c.167-2A>G |
single nucleotide variant |
Acne inversa, familial, 2 [RCV000515756] |
Chr19:35746706 [GRCh38] Chr19:36237607 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) |
single nucleotide variant |
Acne inversa, familial, 2 [RCV000515753] |
Chr19:35746735 [GRCh38] Chr19:36237636 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) |
single nucleotide variant |
Acne inversa, familial, 2 [RCV000515757] |
Chr19:35745965 [GRCh38] Chr19:36236866 [GRCh37] Chr19:19q13.12 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 |
copy number loss |
See cases [RCV000135879] |
Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 |
copy number loss |
See cases [RCV000136794] |
Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207170] |
Chr19:36227660..36250792 [GRCh37] Chr19:19q13.12 |
likely pathogenic|uncertain significance |
GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207261] |
Chr19:36227660..36268769 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.61+17G>C |
single nucleotide variant |
Acne inversa, familial, 2 [RCV000605712]|not provided [RCV001520178] |
Chr19:35746008 [GRCh38] Chr19:36236909 [GRCh37] Chr19:19q13.12 |
benign |
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 |
copy number loss |
See cases [RCV000511504] |
Chr19:36147111..37249653 [GRCh37] Chr19:19q13.12 |
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_172341.4(PSENEN):c.62-1G>C |
single nucleotide variant |
Acne inversa, familial, 2 [RCV000515758] |
Chr19:35746418 [GRCh38] Chr19:36237319 [GRCh37] Chr19:19q13.12 |
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 |
Single allele |
deletion |
Dystonic disorder [RCV001003865] |
Chr19:35553425..36264299 [GRCh37] Chr19:19q13.12 |
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-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) |
copy number loss |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] |
Chr19:35111811..37744992 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) |
copy number loss |
not provided [RCV000767769] |
Chr19:35043556..36316644 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 |
copy number gain |
not provided [RCV000845733] |
Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
NM_172341.4(PSENEN):c.175C>T (p.Arg59Cys) |
single nucleotide variant |
not provided [RCV003107092] |
Chr19:35746716 [GRCh38] Chr19:36237617 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_33167170)_(36643309_?)dup |
duplication |
Hereditary spastic paraplegia 75 [RCV003107659] |
Chr19:33167170..36643309 [GRCh37] Chr19:19q13.11-13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.168T>G (p.Tyr56Ter) |
single nucleotide variant |
not provided [RCV001349524] |
Chr19:35746709 [GRCh38] Chr19:36237610 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 |
copy number gain |
not provided [RCV001833065] |
Chr19:36019064..36516110 [GRCh37] Chr19:19q13.12 |
uncertain significance |
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 |
NM_172341.4(PSENEN):c.61+3A>G |
single nucleotide variant |
not provided [RCV001984442] |
Chr19:35745994 [GRCh38] Chr19:36236895 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.256G>T (p.Gly86Cys) |
single nucleotide variant |
not provided [RCV001874450] |
Chr19:35746797 [GRCh38] Chr19:36237698 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_35521725)_(36643309_?)del |
deletion |
Brugada syndrome 5 [RCV001910265] |
Chr19:35521725..36643309 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.246G>A (p.Arg82=) |
single nucleotide variant |
not provided [RCV001970015] |
Chr19:35746787 [GRCh38] Chr19:36237688 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.184G>A (p.Val62Met) |
single nucleotide variant |
not provided [RCV002032140] |
Chr19:35746725 [GRCh38] Chr19:36237626 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.137C>A (p.Ala46Asp) |
single nucleotide variant |
not provided [RCV001974103] |
Chr19:35746494 [GRCh38] Chr19:36237395 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.75C>G (p.Phe25Leu) |
single nucleotide variant |
not provided [RCV001883000] |
Chr19:35746432 [GRCh38] Chr19:36237333 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.61+13_61+21del |
deletion |
not provided [RCV002207414] |
Chr19:35746002..35746010 [GRCh38] Chr19:36236903..36236911 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.249C>T (p.Pro83=) |
single nucleotide variant |
not provided [RCV002139303] |
Chr19:35746790 [GRCh38] Chr19:36237691 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.61+14C>T |
single nucleotide variant |
not provided [RCV002204416] |
Chr19:35746005 [GRCh38] Chr19:36236906 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.57C>T (p.Tyr19=) |
single nucleotide variant |
not provided [RCV002913362] |
Chr19:35745987 [GRCh38] Chr19:36236888 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.251G>A (p.Arg84His) |
single nucleotide variant |
not provided [RCV002780712] |
Chr19:35746792 [GRCh38] Chr19:36237693 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.299C>A (p.Thr100Asn) |
single nucleotide variant |
not specified [RCV004174384] |
Chr19:35746840 [GRCh38] Chr19:36237741 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.167-16C>G |
single nucleotide variant |
not provided [RCV002597239] |
Chr19:35746692 [GRCh38] Chr19:36237593 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.195C>T (p.Leu65=) |
single nucleotide variant |
not provided [RCV003040356] |
Chr19:35746736 [GRCh38] Chr19:36237637 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.167-11T>C |
single nucleotide variant |
not provided [RCV002765711] |
Chr19:35746697 [GRCh38] Chr19:36237598 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.305G>A (p.Ter102=) |
single nucleotide variant |
not provided [RCV002899498] |
Chr19:35746846 [GRCh38] Chr19:36237747 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.40C>T (p.Leu14=) |
single nucleotide variant |
not provided [RCV003088227] |
Chr19:35745970 [GRCh38] Chr19:36236871 [GRCh37] Chr19:19q13.12 |
benign |
NM_172341.4(PSENEN):c.263T>C (p.Leu88Pro) |
single nucleotide variant |
not provided [RCV002653637] |
Chr19:35746804 [GRCh38] Chr19:36237705 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.245G>A (p.Arg82Gln) |
single nucleotide variant |
not specified [RCV004251804] |
Chr19:35746786 [GRCh38] Chr19:36237687 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.185_200del (p.Val62fs) |
deletion |
Acne inversa, familial, 2 [RCV003337882] |
Chr19:35746723..35746738 [GRCh38] Chr19:36237624..36237639 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.65G>A (p.Gly22Glu) |
single nucleotide variant |
not provided [RCV003543743] |
Chr19:35746422 [GRCh38] Chr19:36237323 [GRCh37] Chr19:19q13.12 |
uncertain significance |
Single allele |
deletion |
not provided [RCV003448708] |
Chr19:35225414..37357598 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
NM_172341.4(PSENEN):c.61+10A>G |
single nucleotide variant |
not provided [RCV003549473] |
Chr19:35746001 [GRCh38] Chr19:36236902 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.61+17G>T |
single nucleotide variant |
not provided [RCV003560639] |
Chr19:35746008 [GRCh38] Chr19:36236909 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.167-4A>G |
single nucleotide variant |
not provided [RCV003724881] |
Chr19:35746704 [GRCh38] Chr19:36237605 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.166+12G>T |
single nucleotide variant |
not provided [RCV003676471] |
Chr19:35746535 [GRCh38] Chr19:36237436 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.61+19G>A |
single nucleotide variant |
not provided [RCV003820754] |
Chr19:35746010 [GRCh38] Chr19:36236911 [GRCh37] Chr19:19q13.12 |
likely benign |
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_172341.4(PSENEN):c.127C>T (p.Leu43Phe) |
single nucleotide variant |
not provided [RCV003842233] |
Chr19:35746484 [GRCh38] Chr19:36237385 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.173G>C (p.Trp58Ser) |
single nucleotide variant |
not provided [RCV003677734] |
Chr19:35746714 [GRCh38] Chr19:36237615 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.240C>A (p.Ile80=) |
single nucleotide variant |
not provided [RCV003711708] |
Chr19:35746781 [GRCh38] Chr19:36237682 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_172341.4(PSENEN):c.71C>G (p.Ala24Gly) |
single nucleotide variant |
not provided [RCV003568798] |
Chr19:35746428 [GRCh38] Chr19:36237329 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.4(PSENEN):c.225C>G (p.Ile75Met) |
single nucleotide variant |
not provided [RCV003681567] |
Chr19:35746766 [GRCh38] Chr19:36237667 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_172341.3(PSENEN):c.-187A>G |
single nucleotide variant |
PSENEN-related disorder [RCV003951994] |
Chr19:35745610 [GRCh38] Chr19:36236511 [GRCh37] Chr19:19q13.12 |
likely benign |
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 |
copy number loss |
not provided [RCV004577477] |
Chr19:35223021..36895699 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:36237320-36237748)x1 |
copy number loss |
not provided [RCV004812264] |
Chr19:36237320..36237748 [GRCh37] Chr19:19q13.12 |
pathogenic |