NM_013359.2(ZNF221):c.1318C>T (p.His440Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000072195] |
Chr19:43966820 [GRCh38] Chr19:44470972 [GRCh37] Chr19:49162812 [NCBI36] Chr19:19q13.31 |
not provided |
NM_013359.2(ZNF221):c.1498C>T (p.His500Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000063563] |
Chr19:43967000 [GRCh38] Chr19:44471152 [GRCh37] Chr19:49162992 [NCBI36] Chr19:19q13.31 |
not provided |
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 19q13.2-13.32(chr19:43013365-47241534)x1 |
copy number loss |
See cases [RCV000240182] |
Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32 |
pathogenic |
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207290] |
Chr19:44466919..45029206 [GRCh37] Chr19:19q13.31 |
uncertain significance |
GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1 |
copy number loss |
See cases [RCV000512107] |
Chr19:44300416..45639540 [GRCh37] Chr19:19q13.31-13.32 |
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_001297588.2(ZNF221):c.358T>C (p.Trp120Arg) |
single nucleotide variant |
not specified [RCV004294698] |
Chr19:43965860 [GRCh38] Chr19:44470012 [GRCh37] Chr19:19q13.31 |
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 |
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 |
Single allele |
duplication |
Schizophrenia [RCV000754211] |
Chr19:41608672..44315856 [GRCh38] Chr19:19q13.2-13.31 |
likely pathogenic |
GRCh37/hg19 19q13.31(chr19:44470177-44513250)x3 |
copy number gain |
not provided [RCV000740181] |
Chr19:44470177..44513250 [GRCh37] Chr19:19q13.31 |
benign |
GRCh37/hg19 19q13.31(chr19:44470331-44513250)x3 |
copy number gain |
not provided [RCV000740182] |
Chr19:44470331..44513250 [GRCh37] Chr19:19q13.31 |
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.(?_44011002)_(45213778_?)dup |
duplication |
Ethylmalonic encephalopathy [RCV003116731] |
Chr19:44011002..45213778 [GRCh37] Chr19:19q13.31-13.32 |
uncertain significance |
NM_001297588.2(ZNF221):c.182A>G (p.Glu61Gly) |
single nucleotide variant |
not specified [RCV004204103] |
Chr19:43965050 [GRCh38] Chr19:44469202 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1418C>T (p.Thr473Met) |
single nucleotide variant |
not specified [RCV004194312] |
Chr19:43966920 [GRCh38] Chr19:44471072 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
not specified [RCV004205212] |
Chr19:43966460 [GRCh38] Chr19:44470612 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1429C>A (p.Pro477Thr) |
single nucleotide variant |
not specified [RCV004108604] |
Chr19:43966931 [GRCh38] Chr19:44471083 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1643A>G (p.Asn548Ser) |
single nucleotide variant |
not specified [RCV004192765] |
Chr19:43967145 [GRCh38] Chr19:44471297 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.722T>G (p.Leu241Arg) |
single nucleotide variant |
not specified [RCV004207972] |
Chr19:43966224 [GRCh38] Chr19:44470376 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.159G>T (p.Lys53Asn) |
single nucleotide variant |
not specified [RCV004139407] |
Chr19:43965027 [GRCh38] Chr19:44469179 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.623G>C (p.Cys208Ser) |
single nucleotide variant |
not specified [RCV004211847] |
Chr19:43966125 [GRCh38] Chr19:44470277 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1310G>A (p.Arg437Gln) |
single nucleotide variant |
not specified [RCV004233964] |
Chr19:43966812 [GRCh38] Chr19:44470964 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.641A>G (p.His214Arg) |
single nucleotide variant |
not specified [RCV004080035] |
Chr19:43966143 [GRCh38] Chr19:44470295 [GRCh37] Chr19:19q13.31 |
likely benign |
NM_001297588.2(ZNF221):c.743A>C (p.His248Pro) |
single nucleotide variant |
not specified [RCV004180781] |
Chr19:43966245 [GRCh38] Chr19:44470397 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1504G>A (p.Gly502Arg) |
single nucleotide variant |
not provided [RCV004696291]|not specified [RCV004235573] |
Chr19:43967006 [GRCh38] Chr19:44471158 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.446A>G (p.Glu149Gly) |
single nucleotide variant |
not specified [RCV004197863] |
Chr19:43965948 [GRCh38] Chr19:44470100 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1834T>C (p.Cys612Arg) |
single nucleotide variant |
not specified [RCV004323229] |
Chr19:43967336 [GRCh38] Chr19:44471488 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1042C>G (p.Arg348Gly) |
single nucleotide variant |
not specified [RCV004268727] |
Chr19:43966544 [GRCh38] Chr19:44470696 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1623G>C (p.Lys541Asn) |
single nucleotide variant |
not specified [RCV004281029] |
Chr19:43967125 [GRCh38] Chr19:44471277 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.623G>A (p.Cys208Tyr) |
single nucleotide variant |
not specified [RCV004274992] |
Chr19:43966125 [GRCh38] Chr19:44470277 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1180T>C (p.Tyr394His) |
single nucleotide variant |
not specified [RCV004253367] |
Chr19:43966682 [GRCh38] Chr19:44470834 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.787T>C (p.Phe263Leu) |
single nucleotide variant |
not specified [RCV004302715] |
Chr19:43966289 [GRCh38] Chr19:44470441 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.820A>G (p.Lys274Glu) |
single nucleotide variant |
not specified [RCV004344427] |
Chr19:43966322 [GRCh38] Chr19:44470474 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.106G>T (p.Ala36Ser) |
single nucleotide variant |
not specified [RCV004337310] |
Chr19:43964974 [GRCh38] Chr19:44469126 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1072A>G (p.Met358Val) |
single nucleotide variant |
not specified [RCV004491820] |
Chr19:43966574 [GRCh38] Chr19:44470726 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1181A>G (p.Tyr394Cys) |
single nucleotide variant |
not specified [RCV004491821] |
Chr19:43966683 [GRCh38] Chr19:44470835 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.240C>A (p.His80Gln) |
single nucleotide variant |
not specified [RCV004491824] |
Chr19:43965264 [GRCh38] Chr19:44469416 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.586A>G (p.Lys196Glu) |
single nucleotide variant |
not specified [RCV004491827] |
Chr19:43966088 [GRCh38] Chr19:44470240 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.914C>A (p.Thr305Asn) |
single nucleotide variant |
not specified [RCV004491828] |
Chr19:43966416 [GRCh38] Chr19:44470568 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.959G>A (p.Arg320His) |
single nucleotide variant |
not specified [RCV004491830] |
Chr19:43966461 [GRCh38] Chr19:44470613 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.278C>A (p.Thr93Lys) |
single nucleotide variant |
not specified [RCV004491825] |
Chr19:43965302 [GRCh38] Chr19:44469454 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1469C>T (p.Ala490Val) |
single nucleotide variant |
not specified [RCV004491822] |
Chr19:43966971 [GRCh38] Chr19:44471123 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1625G>T (p.Gly542Val) |
single nucleotide variant |
not specified [RCV004491823] |
Chr19:43967127 [GRCh38] Chr19:44471279 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.454G>A (p.Val152Ile) |
single nucleotide variant |
not specified [RCV004491826] |
Chr19:43965956 [GRCh38] Chr19:44470108 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.940A>C (p.Ile314Leu) |
single nucleotide variant |
not specified [RCV004491829] |
Chr19:43966442 [GRCh38] Chr19:44470594 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.822A>T (p.Lys274Asn) |
single nucleotide variant |
not specified [RCV004688176] |
Chr19:43966324 [GRCh38] Chr19:44470476 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.628A>G (p.Ser210Gly) |
single nucleotide variant |
not specified [RCV004688175] |
Chr19:43966130 [GRCh38] Chr19:44470282 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.79A>C (p.Lys27Gln) |
single nucleotide variant |
not specified [RCV004688181] |
Chr19:43962805 [GRCh38] Chr19:44466957 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.343G>A (p.Gly115Arg) |
single nucleotide variant |
not specified [RCV004688177] |
Chr19:43965845 [GRCh38] Chr19:44469997 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1079A>G (p.His360Arg) |
single nucleotide variant |
not specified [RCV004688179] |
Chr19:43966581 [GRCh38] Chr19:44470733 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1690T>C (p.Cys564Arg) |
single nucleotide variant |
not specified [RCV004688180] |
Chr19:43967192 [GRCh38] Chr19:44471344 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.663G>A (p.Met221Ile) |
single nucleotide variant |
not specified [RCV004688178] |
Chr19:43966165 [GRCh38] Chr19:44470317 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1463G>T (p.Gly488Val) |
single nucleotide variant |
not specified [RCV004890900] |
Chr19:43966965 [GRCh38] Chr19:44471117 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.737G>T (p.Arg246Ile) |
single nucleotide variant |
not specified [RCV004353424] |
Chr19:43966239 [GRCh38] Chr19:44470391 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.877C>T (p.His293Tyr) |
single nucleotide variant |
not specified [RCV004890896] |
Chr19:43966379 [GRCh38] Chr19:44470531 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.418A>G (p.Ile140Val) |
single nucleotide variant |
not specified [RCV004890897] |
Chr19:43965920 [GRCh38] Chr19:44470072 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1433A>G (p.Tyr478Cys) |
single nucleotide variant |
not specified [RCV004890898] |
Chr19:43966935 [GRCh38] Chr19:44471087 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1019G>A (p.Cys340Tyr) |
single nucleotide variant |
not specified [RCV004890899] |
Chr19:43966521 [GRCh38] Chr19:44470673 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.976A>C (p.Asn326His) |
single nucleotide variant |
not specified [RCV004890901] |
Chr19:43966478 [GRCh38] Chr19:44470630 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1421G>A (p.Gly474Asp) |
single nucleotide variant |
not specified [RCV004890902] |
Chr19:43966923 [GRCh38] Chr19:44471075 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.739G>C (p.Val247Leu) |
single nucleotide variant |
not specified [RCV004890903] |
Chr19:43966241 [GRCh38] Chr19:44470393 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.544G>T (p.Val182Phe) |
single nucleotide variant |
not specified [RCV004890904] |
Chr19:43966046 [GRCh38] Chr19:44470198 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.1807A>G (p.Thr603Ala) |
single nucleotide variant |
not specified [RCV004890891] |
Chr19:43967309 [GRCh38] Chr19:44471461 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.190A>G (p.Arg64Gly) |
single nucleotide variant |
not specified [RCV004890892] |
Chr19:43965058 [GRCh38] Chr19:44469210 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.226C>A (p.Gln76Lys) |
single nucleotide variant |
not specified [RCV004890893] |
Chr19:43965250 [GRCh38] Chr19:44469402 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_001297588.2(ZNF221):c.539G>A (p.Ser180Asn) |
single nucleotide variant |
not specified [RCV004890895] |
Chr19:43966041 [GRCh38] Chr19:44470193 [GRCh37] Chr19:19q13.31 |
uncertain significance |