Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ZNF341 | Human | hyper IgE recurrent infection syndrome 3 | | IAGP | | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ZNF341 | Human | hyper IgE recurrent infection syndrome 3 | | IAGP | | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11780052 | PMID:12477932 | PMID:14702039 | PMID:15231748 | PMID:16344560 | PMID:18029348 | PMID:20881960 | PMID:21873635 | PMID:24705354 | PMID:24722188 | PMID:25416956 | PMID:26871637 |
PMID:29907690 | PMID:29907691 | PMID:30021884 | PMID:32296183 | PMID:32814053 | PMID:33961781 | PMID:35185921 | PMID:35511492 | PMID:35748872 | PMID:36724073 | PMID:37080116 |
ZNF341 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Zfp341 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Zfp341 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Znf341 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZNF341 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZNF341 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Znf341 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZNF341 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZNF341 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Znf341 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in ZNF341
536 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001282933.2(ZNF341):c.1571C>A (p.Ser524Tyr) | single nucleotide variant | not provided [RCV001302535] | Chr20:33770241 [GRCh38] Chr20:32358047 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 | copy number loss | See cases [RCV000135440] | Chr20:33432363..36821881 [GRCh38] Chr20:32020169..35450284 [GRCh37] Chr20:31483830..34883698 [NCBI36] Chr20:20q11.21-11.23 |
pathogenic |
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 | copy number gain | See cases [RCV000141833] | Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23 |
pathogenic |
NM_001282933.2(ZNF341):c.2164C>T (p.Arg722Cys) | single nucleotide variant | Long QT syndrome [RCV000190175]|not provided [RCV002054244] | Chr20:33791116 [GRCh38] Chr20:32378922 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736039] | Chr20:33753265 [GRCh38] Chr20:32341071 [GRCh37] Chr20:20q11.22 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_001282933.2(ZNF341):c.2344G>A (p.Gly782Arg) | single nucleotide variant | not specified [RCV004318061] | Chr20:33791296 [GRCh38] Chr20:32379102 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NC_000020.10:g.(?_31996293)_(33761838_?)del | deletion | Long QT syndrome [RCV000708204] | Chr20:31996293..33761838 [GRCh37] Chr20:20q11.21-11.22 |
uncertain significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
NC_000020.10:g.(?_31996293)_(33338342_?)del | deletion | Long QT syndrome [RCV000708495] | Chr20:31996293..33338342 [GRCh37] Chr20:20q11.21-11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736035]|not provided [RCV002535441] | Chr20:33757310 [GRCh38] Chr20:32345116 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736038] | Chr20:33781315 [GRCh38] Chr20:32369121 [GRCh37] Chr20:20q11.22 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 | copy number gain | not provided [RCV000849735] | Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23 |
pathogenic |
NM_001282933.2(ZNF341):c.886C>G (p.Pro296Ala) | single nucleotide variant | not specified [RCV004307027] | Chr20:33757292 [GRCh38] Chr20:32345098 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1083del (p.Lys362fs) | deletion | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736037] | Chr20:33761916 [GRCh38] Chr20:32349722 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV000736036] | Chr20:33761989 [GRCh38] Chr20:32349795 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.30G>A (p.Glu10=) | single nucleotide variant | not provided [RCV003106954] | Chr20:33732051 [GRCh38] Chr20:32319857 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3 | copy number gain | not provided [RCV001007091] | Chr20:31966407..33169058 [GRCh37] Chr20:20q11.21-11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1558G>A (p.Val520Met) | single nucleotide variant | not provided [RCV002002143] | Chr20:33770228 [GRCh38] Chr20:32358034 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_31996293)_(33761838_?)del | deletion | Long QT syndrome [RCV001300227] | Chr20:31996293..33761838 [GRCh37] Chr20:20q11.21-11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV001332714]|not provided [RCV001865765]|not specified [RCV004035747] | Chr20:33740989 [GRCh38] Chr20:32328795 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.838G>A (p.Ala280Thr) | single nucleotide variant | not provided [RCV001342489] | Chr20:33757244 [GRCh38] Chr20:32345050 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.866C>T (p.Thr289Met) | single nucleotide variant | not provided [RCV001295867] | Chr20:33757272 [GRCh38] Chr20:32345078 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2337_2338del (p.Ala781fs) | deletion | not provided [RCV001369009] | Chr20:33791289..33791290 [GRCh38] Chr20:32379095..32379096 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2390C>T (p.Pro797Leu) | single nucleotide variant | not provided [RCV001356485] | Chr20:33791342 [GRCh38] Chr20:32379148 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002499613]|not provided [RCV001316833] | Chr20:33791512 [GRCh38] Chr20:32379318 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV001332715]|not provided [RCV001871838]|not specified [RCV004035748] | Chr20:33757316 [GRCh38] Chr20:32345122 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.200C>T (p.Ala67Val) | single nucleotide variant | not provided [RCV001368975] | Chr20:33745160 [GRCh38] Chr20:32332966 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2117C>T (p.Thr706Met) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002070136]|ZNF341-related disorder [RCV003938615]|not provided [RCV001310460] | Chr20:33791069 [GRCh38] Chr20:32378875 [GRCh37] Chr20:20q11.22 |
benign|likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.1452C>T (p.Phe484=) | single nucleotide variant | not provided [RCV001481510] | Chr20:33770122 [GRCh38] Chr20:32357928 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1311G>A (p.Gln437=) | single nucleotide variant | not provided [RCV001486959] | Chr20:33766939 [GRCh38] Chr20:32354745 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.244G>A (p.Ala82Thr) | single nucleotide variant | ZNF341-related disorder [RCV003948512]|not provided [RCV001513982] | Chr20:33745204 [GRCh38] Chr20:32333010 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.2111C>T (p.Ala704Val) | single nucleotide variant | not provided [RCV001492423] | Chr20:33791063 [GRCh38] Chr20:32378869 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2437A>C (p.Thr813Pro) | single nucleotide variant | ZNF341-related disorder [RCV003931047]|not provided [RCV001510829] | Chr20:33791389 [GRCh38] Chr20:32379195 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1448C>T (p.Thr483Met) | single nucleotide variant | ZNF341-related disorder [RCV003948492]|not provided [RCV001510649] | Chr20:33770118 [GRCh38] Chr20:32357924 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1157G>A (p.Arg386Gln) | single nucleotide variant | ZNF341-related disorder [RCV003921112]|not provided [RCV001515028] | Chr20:33761990 [GRCh38] Chr20:32349796 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1622+6T>C | single nucleotide variant | ZNF341-related disorder [RCV003966105]|not provided [RCV001517795] | Chr20:33770298 [GRCh38] Chr20:32358104 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.2505T>C (p.Ala835=) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002243268]|ZNF341-related disorder [RCV003980511]|not provided [RCV001513230]|not specified [RCV003399276] | Chr20:33791457 [GRCh38] Chr20:32379263 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.340-20C>G | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002495821]|not provided [RCV001518989] | Chr20:33748903 [GRCh38] Chr20:32336709 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.2088C>T (p.Ala696=) | single nucleotide variant | not provided [RCV001481853] | Chr20:33791040 [GRCh38] Chr20:32378846 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1623-13T>C | single nucleotide variant | not provided [RCV001447340] | Chr20:33781278 [GRCh38] Chr20:32369084 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2036-14C>T | single nucleotide variant | not provided [RCV001410731] | Chr20:33790974 [GRCh38] Chr20:32378780 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1764C>T (p.His588=) | single nucleotide variant | not provided [RCV001490106] | Chr20:33783776 [GRCh38] Chr20:32371582 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2036-9G>A | single nucleotide variant | ZNF341-related disorder [RCV003956196]|not provided [RCV001519640] | Chr20:33790979 [GRCh38] Chr20:32378785 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1932C>T (p.His644=) | single nucleotide variant | ZNF341-related disorder [RCV003921155]|not provided [RCV001520216] | Chr20:33788942 [GRCh38] Chr20:32376748 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1299G>A (p.Pro433=) | single nucleotide variant | not provided [RCV001455118] | Chr20:33766927 [GRCh38] Chr20:32354733 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1035C>T (p.Thr345=) | single nucleotide variant | ZNF341-related disorder [RCV003966067]|not provided [RCV001511924] | Chr20:33761868 [GRCh38] Chr20:32349674 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.1414-13G>A | single nucleotide variant | not provided [RCV001500431] | Chr20:33770071 [GRCh38] Chr20:32357877 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2163C>A (p.Ser721=) | single nucleotide variant | not provided [RCV001517481] | Chr20:33791115 [GRCh38] Chr20:32378921 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.479C>T (p.Pro160Leu) | single nucleotide variant | ZNF341-related disorder [RCV003908874]|not provided [RCV001522113] | Chr20:33749062 [GRCh38] Chr20:32336868 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1853-17G>A | single nucleotide variant | not provided [RCV001513212] | Chr20:33788846 [GRCh38] Chr20:32376652 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002501803]|ZNF341-related disorder [RCV003931105]|not provided [RCV001518217] | Chr20:33753235 [GRCh38] Chr20:32341041 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.1622+13T>C | single nucleotide variant | not provided [RCV001513074] | Chr20:33770305 [GRCh38] Chr20:32358111 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.150G>T (p.Glu50Asp) | single nucleotide variant | ZNF341-related disorder [RCV003948526]|not provided [RCV001516182] | Chr20:33745110 [GRCh38] Chr20:32332916 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.489+16C>T | single nucleotide variant | not provided [RCV001512376] | Chr20:33749088 [GRCh38] Chr20:32336894 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002488338]|ZNF341-related disorder [RCV003921151]|not provided [RCV001519706] | Chr20:33748949 [GRCh38] Chr20:32336755 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1542G>A (p.Ser514=) | single nucleotide variant | ZNF341-related disorder [RCV003921164]|not provided [RCV001521263] | Chr20:33770212 [GRCh38] Chr20:32358018 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.672T>C (p.Ala224=) | single nucleotide variant | ZNF341-related disorder [RCV003940923]|not provided [RCV001515241] | Chr20:33753354 [GRCh38] Chr20:32341160 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=) | single nucleotide variant | ZNF341-related disorder [RCV003908852]|not provided [RCV001517800] | Chr20:33791100 [GRCh38] Chr20:32378906 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.1929C>T (p.Ile643=) | single nucleotide variant | ZNF341-related disorder [RCV003983956]|not provided [RCV001522017] | Chr20:33788939 [GRCh38] Chr20:33788939..33788940 [GRCh38] Chr20:32376745 [GRCh37] Chr20:32376745..32376746 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.853G>A (p.Ala285Thr) | single nucleotide variant | not provided [RCV001468020] | Chr20:33757259 [GRCh38] Chr20:32345065 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2519C>T (p.Pro840Leu) | single nucleotide variant | not provided [RCV003106909] | Chr20:33791471 [GRCh38] Chr20:32379277 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31G>A (p.Gly11Arg) | single nucleotide variant | not provided [RCV003108624] | Chr20:33732052 [GRCh38] Chr20:32319858 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1640A>G (p.Asn547Ser) | single nucleotide variant | not provided [RCV001730274] | Chr20:33781308 [GRCh38] Chr20:32369114 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.1413+1del | deletion | not provided [RCV001767466] | Chr20:33767041 [GRCh38] Chr20:32354847 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.572C>T (p.Pro191Leu) | single nucleotide variant | not provided [RCV001949788] | Chr20:33753254 [GRCh38] Chr20:32341060 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2493G>A (p.Ala831=) | single nucleotide variant | not provided [RCV001912106] | Chr20:33791445 [GRCh38] Chr20:32379251 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.2121C>T (p.Gly707=) | single nucleotide variant | not provided [RCV002008237] | Chr20:33791073 [GRCh38] Chr20:32378879 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1525G>A (p.Gly509Ser) | single nucleotide variant | not provided [RCV001909922]|not specified [RCV004042784] | Chr20:33770195 [GRCh38] Chr20:32358001 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.1623G>A (p.Lys541=) | single nucleotide variant | not provided [RCV001971749] | Chr20:33781291 [GRCh38] Chr20:32369097 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.893C>T (p.Thr298Met) | single nucleotide variant | not provided [RCV001896417] | Chr20:33757299 [GRCh38] Chr20:32345105 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1765G>A (p.Gly589Ser) | single nucleotide variant | not provided [RCV002025596] | Chr20:33783777 [GRCh38] Chr20:32371583 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1682C>T (p.Thr561Ile) | single nucleotide variant | not provided [RCV002009342] | Chr20:33781350 [GRCh38] Chr20:32369156 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1615G>A (p.Val539Ile) | single nucleotide variant | not provided [RCV001968690] | Chr20:33770285 [GRCh38] Chr20:32358091 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.319C>T (p.Pro107Ser) | single nucleotide variant | not provided [RCV001949851] | Chr20:33745279 [GRCh38] Chr20:32333085 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1029-14C>T | single nucleotide variant | not provided [RCV001889556] | Chr20:33761848 [GRCh38] Chr20:32349654 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.1776C>T (p.Gly592=) | single nucleotide variant | not provided [RCV001970927] | Chr20:33783788 [GRCh38] Chr20:32371594 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 | copy number gain | not provided [RCV001829151] | Chr20:18665879..33903216 [GRCh37] Chr20:20p11.23-q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.2309C>T (p.Pro770Leu) | single nucleotide variant | not provided [RCV001915094] | Chr20:33791261 [GRCh38] Chr20:32379067 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.905G>A (p.Arg302Gln) | single nucleotide variant | not provided [RCV001874254] | Chr20:33757311 [GRCh38] Chr20:32345117 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2135G>A (p.Arg712His) | single nucleotide variant | not provided [RCV001874611]|not specified [RCV004040468] | Chr20:33791087 [GRCh38] Chr20:32378893 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1771G>A (p.Gly591Arg) | single nucleotide variant | not provided [RCV001946557] | Chr20:33783783 [GRCh38] Chr20:32371589 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1600A>G (p.Lys534Glu) | single nucleotide variant | not provided [RCV001864593] | Chr20:33770270 [GRCh38] Chr20:32358076 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.511G>A (p.Val171Met) | single nucleotide variant | not provided [RCV001863577]|not specified [RCV004038971] | Chr20:33753193 [GRCh38] Chr20:32340999 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.121C>T (p.Pro41Ser) | single nucleotide variant | not provided [RCV001983325]|not specified [RCV004044432] | Chr20:33740991 [GRCh38] Chr20:32328797 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2108G>A (p.Arg703His) | single nucleotide variant | not provided [RCV002023025]|not specified [RCV004046744] | Chr20:33791060 [GRCh38] Chr20:32378866 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2383G>A (p.Ala795Thr) | single nucleotide variant | not provided [RCV002002075]|not specified [RCV004042955] | Chr20:33791335 [GRCh38] Chr20:32379141 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2431G>A (p.Ala811Thr) | single nucleotide variant | not provided [RCV002039938] | Chr20:33791383 [GRCh38] Chr20:32379189 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) | copy number gain | not specified [RCV002052709] | Chr20:25442597..33761550 [GRCh37] Chr20:20p11.21-q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.1934A>G (p.Glu645Gly) | single nucleotide variant | not provided [RCV001908590] | Chr20:33788944 [GRCh38] Chr20:32376750 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1994A>G (p.Asn665Ser) | single nucleotide variant | not provided [RCV001891956] | Chr20:33789547 [GRCh38] Chr20:32377353 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV001824238] | Chr20:33761887 [GRCh38] Chr20:32349693 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.686G>A (p.Gly229Glu) | single nucleotide variant | not provided [RCV002003122] | Chr20:33753368 [GRCh38] Chr20:32341174 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.674C>T (p.Ala225Val) | single nucleotide variant | not provided [RCV001890783] | Chr20:33753356 [GRCh38] Chr20:32341162 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1332C>G (p.Ser444=) | single nucleotide variant | not provided [RCV001927119] | Chr20:33766960 [GRCh38] Chr20:32354766 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.1608C>A (p.Asp536Glu) | single nucleotide variant | not provided [RCV002043485] | Chr20:33770278 [GRCh38] Chr20:32358084 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1897C>T (p.Arg633Cys) | single nucleotide variant | not provided [RCV001928753] | Chr20:33788907 [GRCh38] Chr20:32376713 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_32336709)_(32336898_?)del | deletion | not provided [RCV001984613] | Chr20:32336709..32336898 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1903G>A (p.Asp635Asn) | single nucleotide variant | not provided [RCV001985838] | Chr20:33788913 [GRCh38] Chr20:32376719 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.835G>A (p.Ala279Thr) | single nucleotide variant | not provided [RCV001911544] | Chr20:33757241 [GRCh38] Chr20:32345047 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1997G>A (p.Arg666Gln) | single nucleotide variant | not provided [RCV002041868] | Chr20:33789550 [GRCh38] Chr20:32377356 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1748G>A (p.Arg583His) | single nucleotide variant | not provided [RCV002040263] | Chr20:33783760 [GRCh38] Chr20:32371566 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.633C>A (p.Asn211Lys) | single nucleotide variant | not provided [RCV001986147] | Chr20:33753315 [GRCh38] Chr20:32341121 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1577G>A (p.Ser526Asn) | single nucleotide variant | not provided [RCV001908762] | Chr20:33770247 [GRCh38] Chr20:32358053 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1510C>T (p.Arg504Cys) | single nucleotide variant | not provided [RCV002041133] | Chr20:33770180 [GRCh38] Chr20:32357986 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1735C>G (p.Arg579Gly) | single nucleotide variant | not provided [RCV001969331] | Chr20:33783747 [GRCh38] Chr20:32371553 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.629C>T (p.Pro210Leu) | single nucleotide variant | not provided [RCV001986873] | Chr20:33753311 [GRCh38] Chr20:32341117 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1792G>A (p.Val598Met) | single nucleotide variant | not provided [RCV001894922] | Chr20:33783804 [GRCh38] Chr20:32371610 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1291G>A (p.Asp431Asn) | single nucleotide variant | not provided [RCV002003415] | Chr20:33766919 [GRCh38] Chr20:32354725 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.143-14G>A | single nucleotide variant | not provided [RCV002021286] | Chr20:33745089 [GRCh38] Chr20:32332895 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2053T>A (p.Cys685Ser) | single nucleotide variant | not provided [RCV001872777] | Chr20:33791005 [GRCh38] Chr20:32378811 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1564C>G (p.Gln522Glu) | single nucleotide variant | not provided [RCV001986841] | Chr20:33770234 [GRCh38] Chr20:32358040 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.800del (p.Gly267fs) | deletion | not provided [RCV001946752] | Chr20:33757205 [GRCh38] Chr20:32345011 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.2473G>A (p.Gly825Ser) | single nucleotide variant | not provided [RCV002005070] | Chr20:33791425 [GRCh38] Chr20:32379231 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2432C>T (p.Ala811Val) | single nucleotide variant | not provided [RCV002003588] | Chr20:33791384 [GRCh38] Chr20:32379190 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2323_2324delinsTT (p.Glu775Leu) | indel | not provided [RCV002020426] | Chr20:33791275..33791276 [GRCh38] Chr20:32379081..32379082 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.241C>T (p.Pro81Ser) | single nucleotide variant | not provided [RCV002023747] | Chr20:33745201 [GRCh38] Chr20:32333007 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.913A>G (p.Lys305Glu) | single nucleotide variant | not provided [RCV002002609] | Chr20:33757319 [GRCh38] Chr20:32345125 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2269G>A (p.Gly757Ser) | single nucleotide variant | not provided [RCV002021879]|not specified [RCV004043977] | Chr20:33791221 [GRCh38] Chr20:32379027 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.598C>G (p.Pro200Ala) | single nucleotide variant | not provided [RCV001984592] | Chr20:33753280 [GRCh38] Chr20:32341086 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1210G>A (p.Glu404Lys) | single nucleotide variant | not provided [RCV001897726]|not specified [RCV004041328] | Chr20:33762043 [GRCh38] Chr20:32349849 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2110G>A (p.Ala704Thr) | single nucleotide variant | not provided [RCV001942659] | Chr20:33791062 [GRCh38] Chr20:32378868 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1814G>A (p.Arg605Gln) | single nucleotide variant | not provided [RCV001916554]|not specified [RCV004043301] | Chr20:33783826 [GRCh38] Chr20:32371632 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1029-3C>T | single nucleotide variant | not provided [RCV001867381] | Chr20:33761859 [GRCh38] Chr20:32349665 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.306G>A (p.Ala102=) | single nucleotide variant | not provided [RCV001941925] | Chr20:33745266 [GRCh38] Chr20:32333072 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.320C>T (p.Pro107Leu) | single nucleotide variant | not provided [RCV001924118]|not specified [RCV004044251] | Chr20:33745280 [GRCh38] Chr20:32333086 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2067C>T (p.Ser689=) | single nucleotide variant | not provided [RCV001942811] | Chr20:33791019 [GRCh38] Chr20:32378825 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.619C>A (p.Pro207Thr) | single nucleotide variant | not provided [RCV002016659] | Chr20:33753301 [GRCh38] Chr20:32341107 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.196C>T (p.Pro66Ser) | single nucleotide variant | not provided [RCV002037288] | Chr20:33745156 [GRCh38] Chr20:32332962 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2424G>A (p.Ala808=) | single nucleotide variant | not provided [RCV001878383] | Chr20:33791376 [GRCh38] Chr20:32379182 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.544C>T (p.Pro182Ser) | single nucleotide variant | not provided [RCV001885006] | Chr20:33753226 [GRCh38] Chr20:32341032 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.91C>T (p.Pro31Ser) | single nucleotide variant | not provided [RCV002038751] | Chr20:33740961 [GRCh38] Chr20:32328767 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.859G>A (p.Gly287Arg) | single nucleotide variant | not provided [RCV001997063] | Chr20:33757265 [GRCh38] Chr20:32345071 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.538C>G (p.Pro180Ala) | single nucleotide variant | not provided [RCV001934688]|not specified [RCV004686695] | Chr20:33753220 [GRCh38] Chr20:32341026 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1298C>T (p.Pro433Leu) | single nucleotide variant | not provided [RCV001917636]|not specified [RCV004041696] | Chr20:33766926 [GRCh38] Chr20:32354732 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.2230C>T (p.Arg744Trp) | single nucleotide variant | not provided [RCV001881510]|not specified [RCV004041396] | Chr20:33791182 [GRCh38] Chr20:32378988 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2096C>T (p.Ala699Val) | single nucleotide variant | not provided [RCV001957553] | Chr20:33791048 [GRCh38] Chr20:32378854 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.640G>A (p.Gly214Arg) | single nucleotide variant | not provided [RCV002013037] | Chr20:33753322 [GRCh38] Chr20:32341128 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.695C>T (p.Thr232Met) | single nucleotide variant | not provided [RCV002014365] | Chr20:33753377 [GRCh38] Chr20:32341183 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.332A>G (p.Asn111Ser) | single nucleotide variant | not provided [RCV002029716] | Chr20:33745292 [GRCh38] Chr20:32333098 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.763C>G (p.Pro255Ala) | single nucleotide variant | not provided [RCV002016238] | Chr20:33757169 [GRCh38] Chr20:32344975 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1444C>A (p.Gln482Lys) | single nucleotide variant | not provided [RCV001881115] | Chr20:33770114 [GRCh38] Chr20:32357920 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2396C>T (p.Ala799Val) | single nucleotide variant | not provided [RCV001916866]|not specified [RCV004044102] | Chr20:33791348 [GRCh38] Chr20:32379154 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1367C>G (p.Thr456Ser) | single nucleotide variant | not provided [RCV001918374] | Chr20:33766995 [GRCh38] Chr20:32354801 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.755G>A (p.Cys252Tyr) | single nucleotide variant | not provided [RCV002046053] | Chr20:33757161 [GRCh38] Chr20:32344967 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.497T>C (p.Leu166Pro) | single nucleotide variant | not provided [RCV002015832] | Chr20:33753179 [GRCh38] Chr20:32340985 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_31189994)_(34287210_?)del | deletion | not provided [RCV001956104] | Chr20:31189994..34287210 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.741G>A (p.Glu247=) | single nucleotide variant | not provided [RCV001936069] | Chr20:33753423 [GRCh38] Chr20:32341229 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2230del (p.Arg744fs) | deletion | not provided [RCV002050332] | Chr20:33791180 [GRCh38] Chr20:32378986 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1684G>T (p.Ala562Ser) | single nucleotide variant | not provided [RCV001902329] | Chr20:33781352 [GRCh38] Chr20:32369158 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2410G>A (p.Val804Ile) | single nucleotide variant | not provided [RCV001878229]|not specified [RCV004039610] | Chr20:33791362 [GRCh38] Chr20:32379168 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1103A>G (p.His368Arg) | single nucleotide variant | not provided [RCV001990949] | Chr20:33761936 [GRCh38] Chr20:32349742 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2378C>T (p.Pro793Leu) | single nucleotide variant | not provided [RCV002034270] | Chr20:33791330 [GRCh38] Chr20:32379136 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2512G>A (p.Glu838Lys) | single nucleotide variant | not provided [RCV002036668]|not specified [RCV004044886] | Chr20:33791464 [GRCh38] Chr20:32379270 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1475A>G (p.Glu492Gly) | single nucleotide variant | not provided [RCV001877696] | Chr20:33770145 [GRCh38] Chr20:32357951 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.172T>G (p.Cys58Gly) | single nucleotide variant | not provided [RCV002049699] | Chr20:33745132 [GRCh38] Chr20:32332938 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1775dup (p.Arg593fs) | duplication | not provided [RCV001981350] | Chr20:33783782..33783783 [GRCh38] Chr20:32371588..32371589 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.634C>T (p.Pro212Ser) | single nucleotide variant | not provided [RCV001954645] | Chr20:33753316 [GRCh38] Chr20:32341122 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.334C>T (p.Arg112Cys) | single nucleotide variant | not provided [RCV001866460]|not specified [RCV004686690] | Chr20:33745294 [GRCh38] Chr20:32333100 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1889C>T (p.Ala630Val) | single nucleotide variant | not provided [RCV001923533] | Chr20:33788899 [GRCh38] Chr20:32376705 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1549G>A (p.Asp517Asn) | single nucleotide variant | not provided [RCV001923540] | Chr20:33770219 [GRCh38] Chr20:32358025 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.859G>T (p.Gly287Trp) | single nucleotide variant | not provided [RCV001875341] | Chr20:33757265 [GRCh38] Chr20:32345071 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1561C>T (p.His521Tyr) | single nucleotide variant | not provided [RCV002033993] | Chr20:33770231 [GRCh38] Chr20:32358037 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2195G>A (p.Arg732His) | single nucleotide variant | not provided [RCV001884760] | Chr20:33791147 [GRCh38] Chr20:32378953 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2200G>A (p.Gly734Ser) | single nucleotide variant | not provided [RCV002013796] | Chr20:33791152 [GRCh38] Chr20:32378958 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2080C>T (p.Arg694Cys) | single nucleotide variant | not provided [RCV001990632] | Chr20:33791032 [GRCh38] Chr20:32378838 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1171G>A (p.Val391Ile) | single nucleotide variant | not provided [RCV001930624] | Chr20:33762004 [GRCh38] Chr20:32349810 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2368G>A (p.Gly790Ser) | single nucleotide variant | not provided [RCV001920057]|not specified [RCV004041606] | Chr20:33791320 [GRCh38] Chr20:32379126 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.467C>A (p.Pro156His) | single nucleotide variant | not provided [RCV001996869]|not specified [RCV004043836] | Chr20:33749050 [GRCh38] Chr20:32336856 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1294A>G (p.Lys432Glu) | single nucleotide variant | not provided [RCV002047798] | Chr20:33766922 [GRCh38] Chr20:32354728 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2260C>A (p.Arg754Ser) | single nucleotide variant | not provided [RCV001977248]|not specified [RCV004042217] | Chr20:33791212 [GRCh38] Chr20:32379018 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2505_2506inv (p.Gly836Arg) | inversion | not provided [RCV001979565] | Chr20:33791457..33791458 [GRCh38] Chr20:32379263..32379264 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.199_200insT (p.Ala67fs) | insertion | not provided [RCV001884684] | Chr20:33745159..33745160 [GRCh38] Chr20:32332965..32332966 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.1249C>T (p.Pro417Ser) | single nucleotide variant | not provided [RCV001925683] | Chr20:33766877 [GRCh38] Chr20:32354683 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.626G>A (p.Arg209His) | single nucleotide variant | not provided [RCV001940737]|not specified [RCV004044034] | Chr20:33753308 [GRCh38] Chr20:32341114 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1001A>C (p.Asn334Thr) | single nucleotide variant | not provided [RCV001980266] | Chr20:33758779 [GRCh38] Chr20:32346585 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1813C>T (p.Arg605Trp) | single nucleotide variant | not provided [RCV001884162] | Chr20:33783825 [GRCh38] Chr20:32371631 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2282G>A (p.Arg761His) | single nucleotide variant | not provided [RCV001998287] | Chr20:33791234 [GRCh38] Chr20:32379040 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2509G>A (p.Ala837Thr) | single nucleotide variant | not provided [RCV001906806]|not specified [RCV004042686] | Chr20:33791461 [GRCh38] Chr20:32379267 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2198T>C (p.Leu733Pro) | single nucleotide variant | not provided [RCV001924395] | Chr20:33791150 [GRCh38] Chr20:32378956 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1487G>A (p.Ser496Asn) | single nucleotide variant | not provided [RCV001980789]|not specified [RCV004045365] | Chr20:33770157 [GRCh38] Chr20:32357963 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1745_1746del (p.Arg582fs) | deletion | not provided [RCV001950898] | Chr20:33783757..33783758 [GRCh38] Chr20:32371563..32371564 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.2192G>A (p.Cys731Tyr) | single nucleotide variant | not provided [RCV001876497] | Chr20:33791144 [GRCh38] Chr20:32378950 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2375C>T (p.Pro792Leu) | single nucleotide variant | not provided [RCV001870468]|not specified [RCV004686693] | Chr20:33791327 [GRCh38] Chr20:32379133 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2186A>G (p.His729Arg) | single nucleotide variant | not provided [RCV002048752] | Chr20:33791138 [GRCh38] Chr20:32378944 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2281C>T (p.Arg761Cys) | single nucleotide variant | not provided [RCV001957710] | Chr20:33791233 [GRCh38] Chr20:32379039 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1057A>G (p.Ile353Val) | single nucleotide variant | not provided [RCV002016328] | Chr20:33761890 [GRCh38] Chr20:32349696 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1574A>G (p.His525Arg) | single nucleotide variant | not provided [RCV002027352]|not specified [RCV004046887] | Chr20:33770244 [GRCh38] Chr20:32358050 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.347C>G (p.Thr116Arg) | single nucleotide variant | not provided [RCV001954686]|not specified [RCV004044006] | Chr20:33748930 [GRCh38] Chr20:32336736 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.734C>T (p.Pro245Leu) | single nucleotide variant | not provided [RCV001922653] | Chr20:33753416 [GRCh38] Chr20:32341222 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2095G>A (p.Ala699Thr) | single nucleotide variant | not provided [RCV001880456] | Chr20:33791047 [GRCh38] Chr20:32378853 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2189G>A (p.Arg730His) | single nucleotide variant | not provided [RCV001881427] | Chr20:33791141 [GRCh38] Chr20:32378947 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2467G>C (p.Gly823Arg) | single nucleotide variant | not provided [RCV002051055]|not specified [RCV004038839] | Chr20:33791419 [GRCh38] Chr20:32379225 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1414-9del | deletion | not provided [RCV002206668] | Chr20:33770074 [GRCh38] Chr20:32357880 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1320C>T (p.Leu440=) | single nucleotide variant | not provided [RCV002144845] | Chr20:33766948 [GRCh38] Chr20:32354754 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.340-19T>C | single nucleotide variant | not provided [RCV002208992] | Chr20:33748904 [GRCh38] Chr20:32336710 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.147C>T (p.Asp49=) | single nucleotide variant | not provided [RCV002088585] | Chr20:33745107 [GRCh38] Chr20:32332913 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.742-8C>T | single nucleotide variant | not provided [RCV002165368] | Chr20:33757140 [GRCh38] Chr20:32344946 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.870G>C (p.Val290=) | single nucleotide variant | not provided [RCV002186228] | Chr20:33757276 [GRCh38] Chr20:32345082 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.340-16C>G | single nucleotide variant | not provided [RCV002130333] | Chr20:33748907 [GRCh38] Chr20:32336713 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1647C>T (p.Tyr549=) | single nucleotide variant | not provided [RCV002170236] | Chr20:33781315 [GRCh38] Chr20:32369121 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2541C>T (p.Pro847=) | single nucleotide variant | not provided [RCV002205369] | Chr20:33791493 [GRCh38] Chr20:32379299 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1413+18G>A | single nucleotide variant | not provided [RCV002072779] | Chr20:33767059 [GRCh38] Chr20:32354865 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.120G>A (p.Ala40=) | single nucleotide variant | not provided [RCV002209820] | Chr20:33740990 [GRCh38] Chr20:32328796 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+18C>T | single nucleotide variant | not provided [RCV002146238] | Chr20:33732070 [GRCh38] Chr20:32319876 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1853-5T>C | single nucleotide variant | not provided [RCV002104998] | Chr20:33788858 [GRCh38] Chr20:32376664 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1773G>A (p.Gly591=) | single nucleotide variant | not provided [RCV002092250] | Chr20:33783785 [GRCh38] Chr20:32371591 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1323C>T (p.Ile441=) | single nucleotide variant | not provided [RCV002128944] | Chr20:33766951 [GRCh38] Chr20:32354757 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.481C>T (p.Pro161Ser) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV002210910]|not specified [RCV004047186] | Chr20:33749064 [GRCh38] Chr20:32336870 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.858C>T (p.Thr286=) | single nucleotide variant | not provided [RCV002205858] | Chr20:33757264 [GRCh38] Chr20:32345070 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1620C>T (p.Tyr540=) | single nucleotide variant | ZNF341-related disorder [RCV003903449]|not provided [RCV002168745] | Chr20:33770290 [GRCh38] Chr20:32358096 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.305C>T (p.Ala102Val) | single nucleotide variant | not provided [RCV002189473] | Chr20:33745265 [GRCh38] Chr20:32333071 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1029-18C>T | single nucleotide variant | not provided [RCV002071170] | Chr20:33761844 [GRCh38] Chr20:32349650 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1170C>T (p.Thr390=) | single nucleotide variant | not provided [RCV002165870] | Chr20:33762003 [GRCh38] Chr20:32349809 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1776C>A (p.Gly592=) | single nucleotide variant | not provided [RCV002186491] | Chr20:33783788 [GRCh38] Chr20:32371594 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1317C>T (p.Val439=) | single nucleotide variant | not provided [RCV002186691] | Chr20:33766945 [GRCh38] Chr20:32354751 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1853-17G>C | single nucleotide variant | not provided [RCV002071350] | Chr20:33788846 [GRCh38] Chr20:32376652 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.489+10T>C | single nucleotide variant | not provided [RCV002191304] | Chr20:33749082 [GRCh38] Chr20:32336888 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2394C>T (p.Asp798=) | single nucleotide variant | not provided [RCV002208001] | Chr20:33791346 [GRCh38] Chr20:32379152 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1449G>A (p.Thr483=) | single nucleotide variant | not provided [RCV002146130] | Chr20:33770119 [GRCh38] Chr20:32357925 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1622+1G>A | single nucleotide variant | not provided [RCV002224633] | Chr20:33770293 [GRCh38] Chr20:32358099 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.143-15C>T | single nucleotide variant | not provided [RCV002125279] | Chr20:33745088 [GRCh38] Chr20:32332894 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2454T>C (p.Pro818=) | single nucleotide variant | not provided [RCV002168861] | Chr20:33791406 [GRCh38] Chr20:32379212 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2118G>A (p.Thr706=) | single nucleotide variant | not provided [RCV002205337] | Chr20:33791070 [GRCh38] Chr20:32378876 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2259C>T (p.Pro753=) | single nucleotide variant | ZNF341-related disorder [RCV003933500]|not provided [RCV002147979] | Chr20:33791211 [GRCh38] Chr20:32379017 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2542G>A (p.Val848Ile) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV003224620]|not provided [RCV002146453] | Chr20:33791494 [GRCh38] Chr20:32379300 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_001282933.2(ZNF341):c.771A>G (p.Val257=) | single nucleotide variant | not provided [RCV002085319] | Chr20:33757177 [GRCh38] Chr20:32344983 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.741+9A>G | single nucleotide variant | not provided [RCV002129933] | Chr20:33753432 [GRCh38] Chr20:32341238 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2268C>T (p.Cys756=) | single nucleotide variant | not provided [RCV002073503] | Chr20:33791220 [GRCh38] Chr20:32379026 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.624G>C (p.Gly208=) | single nucleotide variant | not provided [RCV002205997] | Chr20:33753306 [GRCh38] Chr20:32341112 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2520A>C (p.Pro840=) | single nucleotide variant | not provided [RCV002194771] | Chr20:33791472 [GRCh38] Chr20:32379278 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.867G>A (p.Thr289=) | single nucleotide variant | not provided [RCV002078245] | Chr20:33757273 [GRCh38] Chr20:32345079 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+16G>A | single nucleotide variant | not provided [RCV002131243] | Chr20:33732068 [GRCh38] Chr20:32319874 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1414-20G>A | single nucleotide variant | not provided [RCV002130603] | Chr20:33770064 [GRCh38] Chr20:32357870 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.573G>A (p.Pro191=) | single nucleotide variant | not provided [RCV002116556] | Chr20:33753255 [GRCh38] Chr20:32341061 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1614C>T (p.Ala538=) | single nucleotide variant | not provided [RCV002153650] | Chr20:33770284 [GRCh38] Chr20:32358090 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.837C>T (p.Ala279=) | single nucleotide variant | ZNF341-related disorder [RCV003903415]|not provided [RCV002132299] | Chr20:33757243 [GRCh38] Chr20:32345049 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_001282933.2(ZNF341):c.32-12T>C | single nucleotide variant | not provided [RCV002196887] | Chr20:33740890 [GRCh38] Chr20:32328696 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2250G>A (p.Arg750=) | single nucleotide variant | not provided [RCV002092750] | Chr20:33791202 [GRCh38] Chr20:32379008 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1794G>A (p.Val598=) | single nucleotide variant | not provided [RCV002196398] | Chr20:33783806 [GRCh38] Chr20:32371612 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2028C>T (p.Ser676=) | single nucleotide variant | not provided [RCV002081017] | Chr20:33789581 [GRCh38] Chr20:32377387 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.255A>G (p.Thr85=) | single nucleotide variant | not provided [RCV002216046] | Chr20:33745215 [GRCh38] Chr20:32333021 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1371C>T (p.Tyr457=) | single nucleotide variant | not provided [RCV002149555] | Chr20:33766999 [GRCh38] Chr20:32354805 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.387G>A (p.Leu129=) | single nucleotide variant | not provided [RCV002171560] | Chr20:33748970 [GRCh38] Chr20:32336776 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.32-11T>C | single nucleotide variant | not provided [RCV002215760] | Chr20:33740891 [GRCh38] Chr20:32328697 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.6G>A (p.Ala2=) | single nucleotide variant | not provided [RCV002153344] | Chr20:33732027 [GRCh38] Chr20:32319833 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2082C>T (p.Arg694=) | single nucleotide variant | not provided [RCV002094167] | Chr20:33791034 [GRCh38] Chr20:32378840 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2310G>C (p.Pro770=) | single nucleotide variant | not provided [RCV002174892] | Chr20:33791262 [GRCh38] Chr20:32379068 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.123C>G (p.Pro41=) | single nucleotide variant | not provided [RCV002172073] | Chr20:33740993 [GRCh38] Chr20:32328799 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2377C>T (p.Pro793Ser) | single nucleotide variant | not provided [RCV002213158] | Chr20:33791329 [GRCh38] Chr20:32379135 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.291G>A (p.Ser97=) | single nucleotide variant | not provided [RCV002215075] | Chr20:33745251 [GRCh38] Chr20:32333057 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.834C>T (p.Pro278=) | single nucleotide variant | not provided [RCV002167103] | Chr20:33757240 [GRCh38] Chr20:32345046 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1962C>T (p.Phe654=) | single nucleotide variant | not provided [RCV002096487] | Chr20:33788972 [GRCh38] Chr20:32376778 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1683C>T (p.Thr561=) | single nucleotide variant | not provided [RCV002110818] | Chr20:33781351 [GRCh38] Chr20:32369157 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.351C>T (p.Tyr117=) | single nucleotide variant | not provided [RCV002192784] | Chr20:33748934 [GRCh38] Chr20:32336740 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1860G>A (p.Lys620=) | single nucleotide variant | not provided [RCV002193262] | Chr20:33788870 [GRCh38] Chr20:32376676 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1461C>T (p.Leu487=) | single nucleotide variant | not provided [RCV002191480] | Chr20:33770131 [GRCh38] Chr20:32357937 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1720-9C>T | single nucleotide variant | not provided [RCV002113159] | Chr20:33783723 [GRCh38] Chr20:32371529 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.931C>T (p.Pro311Ser) | single nucleotide variant | not provided [RCV002093480] | Chr20:33757337 [GRCh38] Chr20:32345143 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1383G>A (p.Lys461=) | single nucleotide variant | not provided [RCV002195579] | Chr20:33767011 [GRCh38] Chr20:32354817 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2109C>T (p.Arg703=) | single nucleotide variant | not provided [RCV002206774] | Chr20:33791061 [GRCh38] Chr20:32378867 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.210C>T (p.Thr70=) | single nucleotide variant | not provided [RCV002096680] | Chr20:33745170 [GRCh38] Chr20:32332976 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.165C>T (p.Cys55=) | single nucleotide variant | not provided [RCV002131602] | Chr20:33745125 [GRCh38] Chr20:32332931 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.143-6C>T | single nucleotide variant | not provided [RCV002132754] | Chr20:33745097 [GRCh38] Chr20:32332903 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.31+7G>C | single nucleotide variant | not provided [RCV002213527] | Chr20:33732059 [GRCh38] Chr20:32319865 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.510C>T (p.Ser170=) | single nucleotide variant | not provided [RCV002214988] | Chr20:33753192 [GRCh38] Chr20:32340998 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1149C>T (p.Thr383=) | single nucleotide variant | not provided [RCV002150327] | Chr20:33761982 [GRCh38] Chr20:32349788 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2199C>T (p.Leu733=) | single nucleotide variant | not provided [RCV002077469] | Chr20:33791151 [GRCh38] Chr20:32378957 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.417T>C (p.Asp139=) | single nucleotide variant | not provided [RCV002167002] | Chr20:33749000 [GRCh38] Chr20:32336806 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2423C>T (p.Ala808Val) | single nucleotide variant | ZNF341-related disorder [RCV003913727]|not provided [RCV002132343] | Chr20:33791375 [GRCh38] Chr20:32379181 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.366G>T (p.Pro122=) | single nucleotide variant | not provided [RCV002203603] | Chr20:33748949 [GRCh38] Chr20:32336755 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.938-12C>T | single nucleotide variant | not provided [RCV002200146] | Chr20:33758704 [GRCh38] Chr20:32346510 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1719+7G>T | single nucleotide variant | not provided [RCV002102914] | Chr20:33781394 [GRCh38] Chr20:32369200 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2084G>A (p.Arg695His) | single nucleotide variant | not provided [RCV002155031] | Chr20:33791036 [GRCh38] Chr20:32378842 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2165G>A (p.Arg722His) | single nucleotide variant | not provided [RCV002100788] | Chr20:33791117 [GRCh38] Chr20:32378923 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1248G>A (p.Ala416=) | single nucleotide variant | ZNF341-related disorder [RCV003895899]|not provided [RCV002120745] | Chr20:33766876 [GRCh38] Chr20:32354682 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.111T>C (p.Ser37=) | single nucleotide variant | not provided [RCV002142626] | Chr20:33740981 [GRCh38] Chr20:32328787 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1542G>T (p.Ser514=) | single nucleotide variant | not provided [RCV002144316] | Chr20:33770212 [GRCh38] Chr20:32358018 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.932C>T (p.Pro311Leu) | single nucleotide variant | not provided [RCV002097808] | Chr20:33757338 [GRCh38] Chr20:32345144 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.831C>T (p.Asn277=) | single nucleotide variant | not provided [RCV002175392] | Chr20:33757237 [GRCh38] Chr20:32345043 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1035C>G (p.Thr345=) | single nucleotide variant | not provided [RCV002177248] | Chr20:33761868 [GRCh38] Chr20:32349674 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.822A>G (p.Lys274=) | single nucleotide variant | not provided [RCV002182955] | Chr20:33757228 [GRCh38] Chr20:32345034 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1704C>T (p.Cys568=) | single nucleotide variant | not provided [RCV002198012] | Chr20:33781372 [GRCh38] Chr20:32369178 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2166C>T (p.Arg722=) | single nucleotide variant | not provided [RCV002117772] | Chr20:33791118 [GRCh38] Chr20:32378924 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.2367C>T (p.Pro789=) | single nucleotide variant | not provided [RCV002220680] | Chr20:33791319 [GRCh38] Chr20:32379125 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1938C>T (p.Pro646=) | single nucleotide variant | not provided [RCV002084254] | Chr20:33788948 [GRCh38] Chr20:32376754 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.12G>A (p.Ala4=) | single nucleotide variant | not provided [RCV002217659] | Chr20:33732033 [GRCh38] Chr20:32319839 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2328G>A (p.Leu776=) | single nucleotide variant | not provided [RCV002162652] | Chr20:33791280 [GRCh38] Chr20:32379086 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.742-19G>C | single nucleotide variant | not provided [RCV002136669] | Chr20:33757129 [GRCh38] Chr20:32344935 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1028+10C>T | single nucleotide variant | not provided [RCV002180325] | Chr20:33758816 [GRCh38] Chr20:32346622 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.420G>A (p.Val140=) | single nucleotide variant | not provided [RCV002162877] | Chr20:33749003 [GRCh38] Chr20:32336809 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2376G>A (p.Pro792=) | single nucleotide variant | not provided [RCV002162932] | Chr20:33791328 [GRCh38] Chr20:32379134 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1247C>T (p.Ala416Val) | single nucleotide variant | not provided [RCV002097946] | Chr20:33766875 [GRCh38] Chr20:32354681 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1191C>T (p.Asn397=) | single nucleotide variant | not provided [RCV002161366] | Chr20:33762024 [GRCh38] Chr20:32349830 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1548C>T (p.Tyr516=) | single nucleotide variant | not provided [RCV002217133] | Chr20:33770218 [GRCh38] Chr20:32358024 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1242G>A (p.Pro414=) | single nucleotide variant | not provided [RCV002177977] | Chr20:33766870 [GRCh38] Chr20:32354676 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2532C>T (p.Leu844=) | single nucleotide variant | ZNF341-related disorder [RCV003951046]|not provided [RCV002101162] | Chr20:33791484 [GRCh38] Chr20:32379290 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2391G>A (p.Pro797=) | single nucleotide variant | not provided [RCV002201681] | Chr20:33791343 [GRCh38] Chr20:32379149 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2382C>T (p.Phe794=) | single nucleotide variant | not provided [RCV002179363] | Chr20:33791334 [GRCh38] Chr20:32379140 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.32-20G>A | single nucleotide variant | not provided [RCV002139614] | Chr20:33740882 [GRCh38] Chr20:32328688 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.340-16C>T | single nucleotide variant | not provided [RCV002135720] | Chr20:33748907 [GRCh38] Chr20:32336713 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+22_31+30del | deletion | not provided [RCV002081809] | Chr20:33732070..33732078 [GRCh38] Chr20:32319876..32319884 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.852C>T (p.Ser284=) | single nucleotide variant | not provided [RCV002219104] | Chr20:33757258 [GRCh38] Chr20:32345064 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.318C>T (p.Ala106=) | single nucleotide variant | not provided [RCV002181836] | Chr20:33745278 [GRCh38] Chr20:32333084 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1476G>A (p.Glu492=) | single nucleotide variant | not provided [RCV002159195] | Chr20:33770146 [GRCh38] Chr20:32357952 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.780C>T (p.Thr260=) | single nucleotide variant | not provided [RCV002140595] | Chr20:33757186 [GRCh38] Chr20:32344992 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.675G>A (p.Ala225=) | single nucleotide variant | not provided [RCV003118123] | Chr20:33753357 [GRCh38] Chr20:32341163 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2520A>G (p.Pro840=) | single nucleotide variant | not provided [RCV003116249] | Chr20:33791472 [GRCh38] Chr20:32379278 [GRCh37] Chr20:20q11.22 |
likely benign |
NC_000020.10:g.(?_32371518)_(32371690_?)del | deletion | not provided [RCV003122907] | Chr20:32371518..32371690 [GRCh37] Chr20:20q11.22 |
pathogenic |
NC_000020.10:g.(?_32340958)_(32346632_?)del | deletion | not provided [RCV003122908] | Chr20:32340958..32346632 [GRCh37] Chr20:20q11.22 |
pathogenic |
NC_000020.10:g.(?_32332889)_(32336898_?)dup | duplication | not provided [RCV003122909] | Chr20:32332889..32336898 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.1896C>A (p.Asn632Lys) | single nucleotide variant | not specified [RCV004300996] | Chr20:33788906 [GRCh38] Chr20:32376712 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2007G>C (p.Lys669Asn) | single nucleotide variant | not provided [RCV002837523] | Chr20:33789560 [GRCh38] Chr20:32377366 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2391G>C (p.Pro797=) | single nucleotide variant | not provided [RCV002991369] | Chr20:33791343 [GRCh38] Chr20:32379149 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.328G>A (p.Ala110Thr) | single nucleotide variant | not provided [RCV002750218] | Chr20:33745288 [GRCh38] Chr20:32333094 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.875C>T (p.Thr292Ile) | single nucleotide variant | not provided [RCV002726394] | Chr20:33757281 [GRCh38] Chr20:32345087 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.315G>T (p.Gln105His) | single nucleotide variant | not provided [RCV002299224] | Chr20:33745275 [GRCh38] Chr20:32333081 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.695C>A (p.Thr232Lys) | single nucleotide variant | not provided [RCV002303251] | Chr20:33753377 [GRCh38] Chr20:32341183 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1988A>G (p.Glu663Gly) | single nucleotide variant | not provided [RCV003011963] | Chr20:33789541 [GRCh38] Chr20:32377347 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.468C>T (p.Pro156=) | single nucleotide variant | not provided [RCV002994383] | Chr20:33749051 [GRCh38] Chr20:32336857 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2424G>T (p.Ala808=) | single nucleotide variant | not provided [RCV002972218] | Chr20:33791376 [GRCh38] Chr20:32379182 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2197C>A (p.Leu733Ile) | single nucleotide variant | not specified [RCV004143246] | Chr20:33791149 [GRCh38] Chr20:32378955 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.21G>A (p.Glu7=) | single nucleotide variant | not provided [RCV002614234] | Chr20:33732042 [GRCh38] Chr20:32319848 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2112C>T (p.Ala704=) | single nucleotide variant | not provided [RCV002775642] | Chr20:33791064 [GRCh38] Chr20:32378870 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.938-13A>T | single nucleotide variant | not provided [RCV002858437] | Chr20:33758703 [GRCh38] Chr20:32346509 [GRCh37] Chr20:20q11.22 |
likely benign |
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 | copy number gain | not provided [RCV002475651] | Chr20:29652122..35603726 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_001282933.2(ZNF341):c.2533G>A (p.Ala845Thr) | single nucleotide variant | not provided [RCV002904552] | Chr20:33791485 [GRCh38] Chr20:32379291 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.365C>T (p.Pro122Leu) | single nucleotide variant | not provided [RCV003034512] | Chr20:33748948 [GRCh38] Chr20:32336754 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1770C>T (p.Ser590=) | single nucleotide variant | not provided [RCV002756454] | Chr20:33783782 [GRCh38] Chr20:32371588 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1916G>A (p.Arg639Lys) | single nucleotide variant | not provided [RCV003015985]|not specified [RCV004068548] | Chr20:33788926 [GRCh38] Chr20:32376732 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1241C>T (p.Pro414Leu) | single nucleotide variant | not provided [RCV002947872] | Chr20:33766869 [GRCh38] Chr20:32354675 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1964C>T (p.Ser655Leu) | single nucleotide variant | not provided [RCV002690478] | Chr20:33788974 [GRCh38] Chr20:32376780 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1150G>A (p.Val384Met) | single nucleotide variant | not specified [RCV004098485] | Chr20:33761983 [GRCh38] Chr20:32349789 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1086G>A (p.Lys362=) | single nucleotide variant | not provided [RCV002881140] | Chr20:33761919 [GRCh38] Chr20:32349725 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.969G>C (p.Lys323Asn) | single nucleotide variant | not specified [RCV004092127] | Chr20:33758747 [GRCh38] Chr20:32346553 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.180G>A (p.Lys60=) | single nucleotide variant | not provided [RCV002862488] | Chr20:33745140 [GRCh38] Chr20:32332946 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1967C>T (p.Thr656Met) | single nucleotide variant | not provided [RCV003074996] | Chr20:33789520 [GRCh38] Chr20:32377326 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2489T>C (p.Leu830Pro) | single nucleotide variant | not specified [RCV004114815] | Chr20:33791441 [GRCh38] Chr20:32379247 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1890G>T (p.Ala630=) | single nucleotide variant | not provided [RCV002972382] | Chr20:33788900 [GRCh38] Chr20:32376706 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.543T>C (p.Pro181=) | single nucleotide variant | not provided [RCV002751314] | Chr20:33753225 [GRCh38] Chr20:32341031 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.49G>A (p.Val17Ile) | single nucleotide variant | not specified [RCV004103670] | Chr20:33740919 [GRCh38] Chr20:32328725 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2197C>T (p.Leu733Phe) | single nucleotide variant | not specified [RCV004136661] | Chr20:33791149 [GRCh38] Chr20:32378955 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31+9C>T | single nucleotide variant | not provided [RCV002617965] | Chr20:33732061 [GRCh38] Chr20:32319867 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.938-5T>C | single nucleotide variant | not provided [RCV003013837] | Chr20:33758711 [GRCh38] Chr20:32346517 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.468_469dup (p.Gln157fs) | duplication | not provided [RCV002972410] | Chr20:33749048..33749049 [GRCh38] Chr20:32336854..32336855 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.2475C>T (p.Gly825=) | single nucleotide variant | not provided [RCV002819049] | Chr20:33791427 [GRCh38] Chr20:32379233 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2543T>C (p.Val848Ala) | single nucleotide variant | not provided [RCV003016176] | Chr20:33791495 [GRCh38] Chr20:32379301 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2237C>A (p.Pro746His) | single nucleotide variant | not provided [RCV003075882] | Chr20:33791189 [GRCh38] Chr20:32378995 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31+18del | deletion | not provided [RCV003016446] | Chr20:33732069 [GRCh38] Chr20:32319875 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.335G>A (p.Arg112His) | single nucleotide variant | not provided [RCV002904361] | Chr20:33745295 [GRCh38] Chr20:32333101 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2036-13C>T | single nucleotide variant | not provided [RCV002638757] | Chr20:33790975 [GRCh38] Chr20:32378781 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.646G>A (p.Gly216Ser) | single nucleotide variant | not provided [RCV002889126] | Chr20:33753328 [GRCh38] Chr20:32341134 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2529G>T (p.Met843Ile) | single nucleotide variant | not provided [RCV002593191] | Chr20:33791481 [GRCh38] Chr20:32379287 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.340-9A>T | single nucleotide variant | not provided [RCV002889492] | Chr20:33748914 [GRCh38] Chr20:32336720 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1070G>A (p.Arg357His) | single nucleotide variant | not specified [RCV004118204] | Chr20:33761903 [GRCh38] Chr20:32349709 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2360C>G (p.Ala787Gly) | single nucleotide variant | not provided [RCV002696196] | Chr20:33791312 [GRCh38] Chr20:32379118 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2089C>T (p.His697Tyr) | single nucleotide variant | not provided [RCV002659088] | Chr20:33791041 [GRCh38] Chr20:32378847 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1979G>A (p.Cys660Tyr) | single nucleotide variant | not provided [RCV002695044] | Chr20:33789532 [GRCh38] Chr20:32377338 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2035+15G>C | single nucleotide variant | not provided [RCV002914218] | Chr20:33789603 [GRCh38] Chr20:32377409 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2395G>A (p.Ala799Thr) | single nucleotide variant | not provided [RCV002976097] | Chr20:33791347 [GRCh38] Chr20:32379153 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2097C>T (p.Ala699=) | single nucleotide variant | not provided [RCV002795446] | Chr20:33791049 [GRCh38] Chr20:32378855 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1098G>A (p.Lys366=) | single nucleotide variant | not provided [RCV003018474] | Chr20:33761931 [GRCh38] Chr20:32349737 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.290C>T (p.Ser97Leu) | single nucleotide variant | not provided [RCV002780248] | Chr20:33745250 [GRCh38] Chr20:32333056 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.97_102del (p.Pro33_Thr34del) | deletion | not provided [RCV002979269] | Chr20:33740967..33740972 [GRCh38] Chr20:32328773..32328778 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1968G>A (p.Thr656=) | single nucleotide variant | not provided [RCV002592210] | Chr20:33789521 [GRCh38] Chr20:32377327 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2000C>T (p.Pro667Leu) | single nucleotide variant | not provided [RCV002637135]|not specified [RCV004070694] | Chr20:33789553 [GRCh38] Chr20:32377359 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2432C>A (p.Ala811Glu) | single nucleotide variant | not provided [RCV002695087] | Chr20:33791384 [GRCh38] Chr20:32379190 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.156A>G (p.Val52=) | single nucleotide variant | not provided [RCV002885443] | Chr20:33745116 [GRCh38] Chr20:32332922 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.926G>A (p.Gly309Glu) | single nucleotide variant | not provided [RCV002590326] | Chr20:33757332 [GRCh38] Chr20:32345138 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1735C>T (p.Arg579Cys) | single nucleotide variant | not provided [RCV002705674] | Chr20:33783747 [GRCh38] Chr20:32371553 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1965-7G>A | single nucleotide variant | not provided [RCV002949393] | Chr20:33789511 [GRCh38] Chr20:32377317 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.647G>T (p.Gly216Val) | single nucleotide variant | not provided [RCV002705927] | Chr20:33753329 [GRCh38] Chr20:32341135 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.570A>G (p.Pro190=) | single nucleotide variant | not provided [RCV002760807] | Chr20:33753252 [GRCh38] Chr20:32341058 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1793T>A (p.Val598Glu) | single nucleotide variant | not provided [RCV002978992] | Chr20:33783805 [GRCh38] Chr20:32371611 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.697G>A (p.Val233Met) | single nucleotide variant | not provided [RCV002820356] | Chr20:33753379 [GRCh38] Chr20:32341185 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2269G>C (p.Gly757Arg) | single nucleotide variant | not specified [RCV004216313] | Chr20:33791221 [GRCh38] Chr20:32379027 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31+16_31+17dup | duplication | not provided [RCV002975730] | Chr20:33732067..33732068 [GRCh38] Chr20:32319873..32319874 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.166G>A (p.Gly56Arg) | single nucleotide variant | not provided [RCV002570281] | Chr20:33745126 [GRCh38] Chr20:32332932 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.339+7G>T | single nucleotide variant | not provided [RCV002576272] | Chr20:33745306 [GRCh38] Chr20:32333112 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2157C>T (p.Gly719=) | single nucleotide variant | not provided [RCV002701310] | Chr20:33791109 [GRCh38] Chr20:32378915 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1626T>C (p.Cys542=) | single nucleotide variant | not provided [RCV002918374] | Chr20:33781294 [GRCh38] Chr20:32369100 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.472G>T (p.Gly158Cys) | single nucleotide variant | not provided [RCV002597387] | Chr20:33749055 [GRCh38] Chr20:32336861 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1726C>A (p.Pro576Thr) | single nucleotide variant | not provided [RCV003059808] | Chr20:33783738 [GRCh38] Chr20:32371544 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.191C>T (p.Ser64Leu) | single nucleotide variant | not provided [RCV002982558] | Chr20:33745151 [GRCh38] Chr20:32332957 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1857G>A (p.Glu619=) | single nucleotide variant | not provided [RCV003022374] | Chr20:33788867 [GRCh38] Chr20:32376673 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1722G>A (p.Val574=) | single nucleotide variant | not provided [RCV002623475] | Chr20:33783734 [GRCh38] Chr20:32371540 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.195G>C (p.Leu65=) | single nucleotide variant | not provided [RCV003005654] | Chr20:33745155 [GRCh38] Chr20:32332961 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2107C>T (p.Arg703Cys) | single nucleotide variant | not specified [RCV004078346] | Chr20:33791059 [GRCh38] Chr20:32378865 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.933G>A (p.Pro311=) | single nucleotide variant | ZNF341-related disorder [RCV003961134]|not provided [RCV002786187] | Chr20:33757339 [GRCh38] Chr20:32345145 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2559C>T (p.Ser853=) | single nucleotide variant | not provided [RCV002576183] | Chr20:33791511 [GRCh38] Chr20:32379317 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2296C>T (p.Pro766Ser) | single nucleotide variant | not provided [RCV002741222] | Chr20:33791248 [GRCh38] Chr20:32379054 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1736G>A (p.Arg579His) | single nucleotide variant | not provided [RCV003025758] | Chr20:33783748 [GRCh38] Chr20:32371554 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1720G>C (p.Val574Leu) | single nucleotide variant | not provided [RCV002851619] | Chr20:33783732 [GRCh38] Chr20:32371538 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2479A>G (p.Asn827Asp) | single nucleotide variant | not provided [RCV002626089] | Chr20:33791431 [GRCh38] Chr20:32379237 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1602G>A (p.Lys534=) | single nucleotide variant | not provided [RCV002700729] | Chr20:33770272 [GRCh38] Chr20:32358078 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.478C>T (p.Pro160Ser) | single nucleotide variant | not specified [RCV004148708] | Chr20:33749061 [GRCh38] Chr20:32336867 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2007G>A (p.Lys669=) | single nucleotide variant | not provided [RCV003040044] | Chr20:33789560 [GRCh38] Chr20:32377366 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2261G>A (p.Arg754His) | single nucleotide variant | not provided [RCV003065613] | Chr20:33791213 [GRCh38] Chr20:32379019 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.421C>A (p.Leu141Ile) | single nucleotide variant | not specified [RCV004123140] | Chr20:33749004 [GRCh38] Chr20:32336810 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1730G>T (p.Cys577Phe) | single nucleotide variant | not provided [RCV002941871] | Chr20:33783742 [GRCh38] Chr20:32371548 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.449C>T (p.Ser150Phe) | single nucleotide variant | not provided [RCV002715450] | Chr20:33749032 [GRCh38] Chr20:32336838 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.413A>G (p.Asp138Gly) | single nucleotide variant | not specified [RCV004124833] | Chr20:33748996 [GRCh38] Chr20:32336802 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2555C>T (p.Ala852Val) | single nucleotide variant | not provided [RCV002676475] | Chr20:33791507 [GRCh38] Chr20:32379313 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1141G>A (p.Gly381Ser) | single nucleotide variant | not specified [RCV004127068] | Chr20:33761974 [GRCh38] Chr20:32349780 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1921_1922del (p.Met641fs) | deletion | not provided [RCV003031924] | Chr20:33788931..33788932 [GRCh38] Chr20:32376737..32376738 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.424A>C (p.Met142Leu) | single nucleotide variant | not provided [RCV002602847] | Chr20:33749007 [GRCh38] Chr20:32336813 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.902C>T (p.Thr301Ile) | single nucleotide variant | not provided [RCV003111643]|not specified [RCV004075160] | Chr20:33757308 [GRCh38] Chr20:32345114 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.955G>C (p.Ala319Pro) | single nucleotide variant | not provided [RCV002598829]|not specified [RCV004073384] | Chr20:33758733 [GRCh38] Chr20:32346539 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.948G>A (p.Lys316=) | single nucleotide variant | not provided [RCV002632940] | Chr20:33758726 [GRCh38] Chr20:32346532 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1407T>C (p.Asn469=) | single nucleotide variant | not provided [RCV002580545] | Chr20:33767035 [GRCh38] Chr20:32354841 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1524C>T (p.Cys508=) | single nucleotide variant | not provided [RCV002806026] | Chr20:33770194 [GRCh38] Chr20:32358000 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.603C>T (p.Pro201=) | single nucleotide variant | not provided [RCV002856381] | Chr20:33753285 [GRCh38] Chr20:32341091 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.439G>A (p.Ala147Thr) | single nucleotide variant | not provided [RCV002597511] | Chr20:33749022 [GRCh38] Chr20:32336828 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1222+20G>A | single nucleotide variant | not provided [RCV002649654] | Chr20:33762075 [GRCh38] Chr20:32349881 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2069A>G (p.Lys690Arg) | single nucleotide variant | not provided [RCV003089445]|not specified [RCV004071950] | Chr20:33791021 [GRCh38] Chr20:32378827 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1652C>T (p.Thr551Ile) | single nucleotide variant | not provided [RCV003008946] | Chr20:33781320 [GRCh38] Chr20:32369126 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1223-5C>T | single nucleotide variant | not provided [RCV002576936] | Chr20:33766846 [GRCh38] Chr20:32354652 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2275G>C (p.Gly759Arg) | single nucleotide variant | not provided [RCV002578302]|not specified [RCV004064536] | Chr20:33791227 [GRCh38] Chr20:32379033 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.99G>A (p.Pro33=) | single nucleotide variant | not provided [RCV003089843] | Chr20:33740969 [GRCh38] Chr20:32328775 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1510C>G (p.Arg504Gly) | single nucleotide variant | not specified [RCV004160975] | Chr20:33770180 [GRCh38] Chr20:32357986 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1963T>C (p.Ser655Pro) | single nucleotide variant | not provided [RCV002856270] | Chr20:33788973 [GRCh38] Chr20:32376779 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31+7G>T | single nucleotide variant | not provided [RCV002714971] | Chr20:33732059 [GRCh38] Chr20:32319865 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.654G>A (p.Val218=) | single nucleotide variant | not provided [RCV002922922] | Chr20:33753336 [GRCh38] Chr20:32341142 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+19G>C | single nucleotide variant | not provided [RCV002577943] | Chr20:33732071 [GRCh38] Chr20:32319877 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.363C>T (p.Pro121=) | single nucleotide variant | not provided [RCV003047453] | Chr20:33748946 [GRCh38] Chr20:32336752 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.341T>A (p.Ile114Asn) | single nucleotide variant | not specified [RCV004138448] | Chr20:33748924 [GRCh38] Chr20:32336730 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1852+17T>C | single nucleotide variant | not provided [RCV002792153] | Chr20:33783881 [GRCh38] Chr20:32371687 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1112C>T (p.Thr371Ile) | single nucleotide variant | not specified [RCV004138514] | Chr20:33761945 [GRCh38] Chr20:32349751 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2452C>G (p.Pro818Ala) | single nucleotide variant | not provided [RCV002806979] | Chr20:33791404 [GRCh38] Chr20:32379210 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.831C>A (p.Asn277Lys) | single nucleotide variant | not provided [RCV003029929] | Chr20:33757237 [GRCh38] Chr20:32345043 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.41A>G (p.Asn14Ser) | single nucleotide variant | not provided [RCV003009606] | Chr20:33740911 [GRCh38] Chr20:32328717 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2233C>T (p.Arg745Trp) | single nucleotide variant | not provided [RCV002600592] | Chr20:33791185 [GRCh38] Chr20:32378991 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.633C>T (p.Asn211=) | single nucleotide variant | not provided [RCV003048370] | Chr20:33753315 [GRCh38] Chr20:32341121 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1965-15G>T | single nucleotide variant | not provided [RCV003045808] | Chr20:33789503 [GRCh38] Chr20:32377309 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1028+6C>T | single nucleotide variant | not provided [RCV002599868] | Chr20:33758812 [GRCh38] Chr20:32346618 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.122C>T (p.Pro41Leu) | single nucleotide variant | not provided [RCV002601926] | Chr20:33740992 [GRCh38] Chr20:32328798 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1395C>T (p.Thr465=) | single nucleotide variant | not provided [RCV002627808] | Chr20:33767023 [GRCh38] Chr20:32354829 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.479C>G (p.Pro160Arg) | single nucleotide variant | not provided [RCV002676136] | Chr20:33749062 [GRCh38] Chr20:32336868 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2167C>T (p.His723Tyr) | single nucleotide variant | not provided [RCV002577929] | Chr20:33791119 [GRCh38] Chr20:32378925 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.741+5G>A | single nucleotide variant | not provided [RCV003027540] | Chr20:33753428 [GRCh38] Chr20:32341234 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.741+11G>C | single nucleotide variant | not provided [RCV002658237] | Chr20:33753434 [GRCh38] Chr20:32341240 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.532C>A (p.Pro178Thr) | single nucleotide variant | not provided [RCV002582450] | Chr20:33753214 [GRCh38] Chr20:32341020 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2421T>G (p.Gly807=) | single nucleotide variant | not provided [RCV002635081] | Chr20:33791373 [GRCh38] Chr20:32379179 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.432C>T (p.Ala144=) | single nucleotide variant | not provided [RCV002583910] | Chr20:33749015 [GRCh38] Chr20:32336821 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.723G>C (p.Gln241His) | single nucleotide variant | not provided [RCV003049754] | Chr20:33753405 [GRCh38] Chr20:32341211 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2055C>T (p.Cys685=) | single nucleotide variant | not provided [RCV002657873] | Chr20:33791007 [GRCh38] Chr20:32378813 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1230C>G (p.Gly410=) | single nucleotide variant | not provided [RCV002814767] | Chr20:33766858 [GRCh38] Chr20:32354664 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.217C>T (p.Arg73Trp) | single nucleotide variant | not provided [RCV002605987] | Chr20:33745177 [GRCh38] Chr20:32332983 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.741+19G>T | single nucleotide variant | not provided [RCV002583428] | Chr20:33753442 [GRCh38] Chr20:32341248 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1414-14C>T | single nucleotide variant | not provided [RCV002608234] | Chr20:33770070 [GRCh38] Chr20:32357876 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.918T>G (p.Gly306=) | single nucleotide variant | not provided [RCV002606007] | Chr20:33757324 [GRCh38] Chr20:32345130 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.908G>A (p.Arg303Gln) | single nucleotide variant | not provided [RCV002590067] | Chr20:33757314 [GRCh38] Chr20:32345120 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31+7G>A | single nucleotide variant | not provided [RCV002609493] | Chr20:33732059 [GRCh38] Chr20:32319865 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.189C>T (p.Asn63=) | single nucleotide variant | not provided [RCV002654421] | Chr20:33745149 [GRCh38] Chr20:32332955 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2149G>A (p.Ala717Thr) | single nucleotide variant | not provided [RCV002612051]|not specified [RCV004070535] | Chr20:33791101 [GRCh38] Chr20:32378907 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2433G>A (p.Ala811=) | single nucleotide variant | not provided [RCV002602946] | Chr20:33791385 [GRCh38] Chr20:32379191 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1251A>G (p.Pro417=) | single nucleotide variant | not provided [RCV002586049] | Chr20:33766879 [GRCh38] Chr20:32354685 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1406A>C (p.Asn469Thr) | single nucleotide variant | not provided [RCV002589856] | Chr20:33767034 [GRCh38] Chr20:32354840 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2165G>T (p.Arg722Leu) | single nucleotide variant | not provided [RCV002586245] | Chr20:33791117 [GRCh38] Chr20:32378923 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.392A>C (p.Gln131Pro) | single nucleotide variant | not specified [RCV004273749] | Chr20:33748975 [GRCh38] Chr20:32336781 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2390C>G (p.Pro797Arg) | single nucleotide variant | not specified [RCV004352623] | Chr20:33791342 [GRCh38] Chr20:32379148 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1414-4C>G | single nucleotide variant | not provided [RCV003543717] | Chr20:33770080 [GRCh38] Chr20:32357886 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2282G>T (p.Arg761Leu) | single nucleotide variant | not provided [RCV003825826] | Chr20:33791234 [GRCh38] Chr20:32379040 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1761C>T (p.Thr587=) | single nucleotide variant | not provided [RCV003874408] | Chr20:33783773 [GRCh38] Chr20:32371579 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.567C>T (p.Pro189=) | single nucleotide variant | not provided [RCV003571905] | Chr20:33753249 [GRCh38] Chr20:32341055 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.90C>A (p.Val30=) | single nucleotide variant | not provided [RCV003571147] | Chr20:33740960 [GRCh38] Chr20:32328766 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1881C>T (p.Cys627=) | single nucleotide variant | not provided [RCV003873001] | Chr20:33788891 [GRCh38] Chr20:32376697 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2544C>T (p.Val848=) | single nucleotide variant | not provided [RCV003826245] | Chr20:33791496 [GRCh38] Chr20:32379302 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.339+76G>T | single nucleotide variant | not specified [RCV003391224] | Chr20:33745375 [GRCh38] Chr20:32333181 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.2036-62G>A | single nucleotide variant | not specified [RCV003397095] | Chr20:33790926 [GRCh38] Chr20:32378732 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.20A>G (p.Glu7Gly) | single nucleotide variant | ZNF341-related disorder [RCV003410595] | Chr20:33732041 [GRCh38] Chr20:32319847 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.489+9G>A | single nucleotide variant | not provided [RCV003876363] | Chr20:33749081 [GRCh38] Chr20:32336887 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.925G>A (p.Gly309Arg) | single nucleotide variant | not provided [RCV003740305] | Chr20:33757331 [GRCh38] Chr20:32345137 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1643A>G (p.Lys548Arg) | single nucleotide variant | not provided [RCV003831713] | Chr20:33781311 [GRCh38] Chr20:32369117 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.284C>T (p.Pro95Leu) | single nucleotide variant | not provided [RCV003662258] | Chr20:33745244 [GRCh38] Chr20:32333050 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2467G>A (p.Gly823Arg) | single nucleotide variant | not provided [RCV003713037] | Chr20:33791419 [GRCh38] Chr20:32379225 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.801C>A (p.Gly267=) | single nucleotide variant | not provided [RCV003828586] | Chr20:33757207 [GRCh38] Chr20:32345013 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.240C>T (p.Ala80=) | single nucleotide variant | not provided [RCV003661381] | Chr20:33745200 [GRCh38] Chr20:32333006 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+36C>T | single nucleotide variant | not specified [RCV003490372] | Chr20:33732088 [GRCh38] Chr20:32319894 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.31+12_31+23dup | duplication | not provided [RCV003825978] | Chr20:33732057..33732058 [GRCh38] Chr20:32319863..32319864 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.143-18C>A | single nucleotide variant | not provided [RCV003826139] | Chr20:33745085 [GRCh38] Chr20:32332891 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.72G>A (p.Leu24=) | single nucleotide variant | not provided [RCV003879904] | Chr20:33740942 [GRCh38] Chr20:32328748 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2241C>G (p.Pro747=) | single nucleotide variant | not provided [RCV003662963] | Chr20:33791193 [GRCh38] Chr20:32378999 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.92del (p.Pro31fs) | deletion | not provided [RCV003573491] | Chr20:33740960 [GRCh38] Chr20:32328766 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.1877T>C (p.Val626Ala) | single nucleotide variant | not provided [RCV003577222] | Chr20:33788887 [GRCh38] Chr20:32376693 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2409C>T (p.Ile803=) | single nucleotide variant | not provided [RCV003830018] | Chr20:33791361 [GRCh38] Chr20:32379167 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2371A>G (p.Lys791Glu) | single nucleotide variant | not provided [RCV003714573] | Chr20:33791323 [GRCh38] Chr20:32379129 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.659T>C (p.Val220Ala) | single nucleotide variant | not provided [RCV003689789] | Chr20:33753341 [GRCh38] Chr20:32341147 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1852+1G>A | single nucleotide variant | not provided [RCV003574326] | Chr20:33783865 [GRCh38] Chr20:32371671 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.1909C>T (p.Leu637=) | single nucleotide variant | not provided [RCV003575521] | Chr20:33788919 [GRCh38] Chr20:32376725 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2001G>A (p.Pro667=) | single nucleotide variant | not provided [RCV003825968] | Chr20:33789554 [GRCh38] Chr20:32377360 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1637T>C (p.Val546Ala) | single nucleotide variant | not provided [RCV003546292] | Chr20:33781305 [GRCh38] Chr20:32369111 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.825A>G (p.Gly275=) | single nucleotide variant | not provided [RCV003714908] | Chr20:33757231 [GRCh38] Chr20:32345037 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.192G>A (p.Ser64=) | single nucleotide variant | not provided [RCV003836182] | Chr20:33745152 [GRCh38] Chr20:32332958 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.241C>G (p.Pro81Ala) | single nucleotide variant | not provided [RCV003851352] | Chr20:33745201 [GRCh38] Chr20:32333007 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2248A>C (p.Arg750=) | single nucleotide variant | not provided [RCV003671925] | Chr20:33791200 [GRCh38] Chr20:32379006 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1964+1G>A | single nucleotide variant | not provided [RCV003850574] | Chr20:33788975 [GRCh38] Chr20:32376781 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.2242C>A (p.Gln748Lys) | single nucleotide variant | not provided [RCV003561394] | Chr20:33791194 [GRCh38] Chr20:32379000 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1206G>A (p.Glu402=) | single nucleotide variant | not provided [RCV003667228] | Chr20:33762039 [GRCh38] Chr20:32349845 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1914G>A (p.Lys638=) | single nucleotide variant | not provided [RCV003856730] | Chr20:33788924 [GRCh38] Chr20:32376730 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1581C>G (p.Leu527=) | single nucleotide variant | not provided [RCV003839869] | Chr20:33770251 [GRCh38] Chr20:32358057 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2252C>T (p.Ala751Val) | single nucleotide variant | not provided [RCV003835589] | Chr20:33791204 [GRCh38] Chr20:32379010 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1222+19C>T | single nucleotide variant | not provided [RCV003834005] | Chr20:33762074 [GRCh38] Chr20:32349880 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.894G>A (p.Thr298=) | single nucleotide variant | not provided [RCV003838484] | Chr20:33757300 [GRCh38] Chr20:32345106 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2130G>A (p.Lys710=) | single nucleotide variant | not provided [RCV003672622] | Chr20:33791082 [GRCh38] Chr20:32378888 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1110G>A (p.Gln370=) | single nucleotide variant | not provided [RCV003811554] | Chr20:33761943 [GRCh38] Chr20:32349749 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2547C>T (p.Tyr849=) | single nucleotide variant | not provided [RCV003703257] | Chr20:33791499 [GRCh38] Chr20:32379305 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.938-7C>A | single nucleotide variant | not provided [RCV003723603] | Chr20:33758709 [GRCh38] Chr20:32346515 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2081G>A (p.Arg694His) | single nucleotide variant | not provided [RCV003837177] | Chr20:33791033 [GRCh38] Chr20:32378839 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.48C>T (p.Thr16=) | single nucleotide variant | not provided [RCV003854523] | Chr20:33740918 [GRCh38] Chr20:32328724 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.618C>T (p.Pro206=) | single nucleotide variant | not provided [RCV003559076] | Chr20:33753300 [GRCh38] Chr20:32341106 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+17C>T | single nucleotide variant | not provided [RCV003559713] | Chr20:33732069 [GRCh38] Chr20:32319875 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1413+7G>A | single nucleotide variant | not provided [RCV003834888] | Chr20:33767048 [GRCh38] Chr20:32354854 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2535T>G (p.Ala845=) | single nucleotide variant | not provided [RCV003810805] | Chr20:33791487 [GRCh38] Chr20:32379293 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.783C>A (p.Pro261=) | single nucleotide variant | not provided [RCV003724628] | Chr20:33757189 [GRCh38] Chr20:32344995 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2511C>T (p.Ala837=) | single nucleotide variant | not provided [RCV003854546] | Chr20:33791463 [GRCh38] Chr20:32379269 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.340-8C>A | single nucleotide variant | not provided [RCV003816293] | Chr20:33748915 [GRCh38] Chr20:32336721 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1530G>A (p.Lys510=) | single nucleotide variant | not provided [RCV003729101] | Chr20:33770200 [GRCh38] Chr20:32358006 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu) | single nucleotide variant | Hyper-IgE recurrent infection syndrome 3, autosomal recessive [RCV003985120]|not provided [RCV003670663] | Chr20:33740968 [GRCh38] Chr20:32328774 [GRCh37] Chr20:20q11.22 |
likely pathogenic|uncertain significance |
NM_001282933.2(ZNF341):c.951A>G (p.Pro317=) | single nucleotide variant | not provided [RCV003563396] | Chr20:33758729 [GRCh38] Chr20:32346535 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2352G>A (p.Val784=) | single nucleotide variant | not provided [RCV003728573] | Chr20:33791304 [GRCh38] Chr20:32379110 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1539C>T (p.Pro513=) | single nucleotide variant | not provided [RCV003729499] | Chr20:33770209 [GRCh38] Chr20:32358015 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.894G>T (p.Thr298=) | single nucleotide variant | not provided [RCV003842230] | Chr20:33757300 [GRCh38] Chr20:32345106 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1629C>T (p.Val543=) | single nucleotide variant | not provided [RCV003863268] | Chr20:33781297 [GRCh38] Chr20:32369103 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2262C>A (p.Arg754=) | single nucleotide variant | not provided [RCV003551223] | Chr20:33791214 [GRCh38] Chr20:32379020 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.996C>T (p.Thr332=) | single nucleotide variant | not provided [RCV003857264] | Chr20:33758774 [GRCh38] Chr20:32346580 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1199G>A (p.Arg400Lys) | single nucleotide variant | not provided [RCV003863755] | Chr20:33762032 [GRCh38] Chr20:32349838 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1428G>A (p.Val476=) | single nucleotide variant | not provided [RCV003686134] | Chr20:33770098 [GRCh38] Chr20:32357904 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.741+15C>A | single nucleotide variant | not provided [RCV003868866] | Chr20:33753438 [GRCh38] Chr20:32341244 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1209C>T (p.Asp403=) | single nucleotide variant | not provided [RCV003731673] | Chr20:33762042 [GRCh38] Chr20:32349848 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.627T>C (p.Arg209=) | single nucleotide variant | not provided [RCV003565233] | Chr20:33753309 [GRCh38] Chr20:32341115 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1653C>T (p.Thr551=) | single nucleotide variant | not provided [RCV003684136] | Chr20:33781321 [GRCh38] Chr20:32369127 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.941C>A (p.Ala314Glu) | single nucleotide variant | not provided [RCV003870048] | Chr20:33758719 [GRCh38] Chr20:32346525 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1414G>A (p.Val472Met) | single nucleotide variant | not provided [RCV003872306] | Chr20:33770084 [GRCh38] Chr20:32357890 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.31+24_31+29dup | duplication | not provided [RCV003819276] | Chr20:33732070..33732071 [GRCh38] Chr20:32319876..32319877 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2145C>G (p.Gly715=) | single nucleotide variant | not provided [RCV003863070] | Chr20:33791097 [GRCh38] Chr20:32378903 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1365C>T (p.Ser455=) | single nucleotide variant | not provided [RCV003682523] | Chr20:33766993 [GRCh38] Chr20:32354799 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1028+11G>A | single nucleotide variant | not provided [RCV003822651] | Chr20:33758817 [GRCh38] Chr20:32346623 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2430C>T (p.Gly810=) | single nucleotide variant | not provided [RCV003729924] | Chr20:33791382 [GRCh38] Chr20:32379188 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1062A>G (p.Ala354=) | single nucleotide variant | not provided [RCV003710217] | Chr20:33761895 [GRCh38] Chr20:32349701 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2202C>T (p.Gly734=) | single nucleotide variant | not provided [RCV003865982] | Chr20:33791154 [GRCh38] Chr20:32378960 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.-7C>T | single nucleotide variant | ZNF341-related disorder [RCV003941406] | Chr20:33732015 [GRCh38] Chr20:32319821 [GRCh37] Chr20:20q11.22 |
benign |
NM_001282933.2(ZNF341):c.1811G>A (p.Arg604Gln) | single nucleotide variant | not provided [RCV003732276]|not specified [RCV004686795] | Chr20:33783823 [GRCh38] Chr20:32371629 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1092T>C (p.Asn364=) | single nucleotide variant | not provided [RCV003860528] | Chr20:33761925 [GRCh38] Chr20:32349731 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2448G>C (p.Val816=) | single nucleotide variant | not provided [RCV003863522] | Chr20:33791400 [GRCh38] Chr20:32379206 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.31+15_31+26dup | duplication | not provided [RCV003708846] | Chr20:33732064..33732065 [GRCh38] Chr20:32319870..32319871 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.741+13G>A | single nucleotide variant | not provided [RCV003862562] | Chr20:33753436 [GRCh38] Chr20:32341242 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1853-6C>T | single nucleotide variant | not provided [RCV003858413] | Chr20:33788857 [GRCh38] Chr20:32376663 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2035+12T>C | single nucleotide variant | not provided [RCV003857619] | Chr20:33789600 [GRCh38] Chr20:32377406 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1509C>T (p.Tyr503=) | single nucleotide variant | not provided [RCV003847411] | Chr20:33770179 [GRCh38] Chr20:32357985 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2355C>T (p.Pro785=) | single nucleotide variant | not provided [RCV003731553] | Chr20:33791307 [GRCh38] Chr20:32379113 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1852+15C>G | single nucleotide variant | not provided [RCV003711087] | Chr20:33783879 [GRCh38] Chr20:32371685 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2014G>A (p.Ala672Thr) | single nucleotide variant | not specified [RCV004486615] | Chr20:33789567 [GRCh38] Chr20:32377373 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.111T>A (p.Ser37Arg) | single nucleotide variant | not specified [RCV004486614] | Chr20:33740981 [GRCh38] Chr20:32328787 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2506G>A (p.Gly836Arg) | single nucleotide variant | not specified [RCV004486616] | Chr20:33791458 [GRCh38] Chr20:32379264 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.28G>C (p.Glu10Gln) | single nucleotide variant | not specified [RCV004486617] | Chr20:33732049 [GRCh38] Chr20:32319855 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.995C>T (p.Thr332Ile) | single nucleotide variant | not specified [RCV004486621] | Chr20:33758773 [GRCh38] Chr20:32346579 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.535C>T (p.Pro179Ser) | single nucleotide variant | not specified [RCV004486618] | Chr20:33753217 [GRCh38] Chr20:32341023 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.977A>G (p.Tyr326Cys) | single nucleotide variant | not specified [RCV004486620] | Chr20:33758755 [GRCh38] Chr20:32346561 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_31571600)_(33001705_?)del | deletion | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV004579470] | Chr20:31571600..33001705 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NC_000020.10:g.(?_32319828)_(32379323_?)del | deletion | not provided [RCV004580990] | Chr20:32319828..32379323 [GRCh37] Chr20:20q11.22 |
pathogenic |
NC_000020.10:g.(?_32369077)_(32369213_?)del | deletion | not provided [RCV004580991] | Chr20:32369077..32369213 [GRCh37] Chr20:20q11.22 |
pathogenic |
NC_000020.10:g.(?_32354637)_(32354867_?)del | deletion | not provided [RCV004580992] | Chr20:32354637..32354867 [GRCh37] Chr20:20q11.22 |
pathogenic |
NC_000020.10:g.(?_32349648)_(32349881_?)dup | duplication | not provided [RCV004580993] | Chr20:32349648..32349881 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_001282933.2(ZNF341):c.307G>A (p.Val103Ile) | single nucleotide variant | not specified [RCV004689055] | Chr20:33745267 [GRCh38] Chr20:32333073 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2356G>A (p.Glu786Lys) | single nucleotide variant | not specified [RCV004689054] | Chr20:33791308 [GRCh38] Chr20:32379114 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.2150C>T (p.Ala717Val) | single nucleotide variant | not specified [RCV004689056] | Chr20:33791102 [GRCh38] Chr20:32378908 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1823A>G (p.Tyr608Cys) | single nucleotide variant | not provided [RCV004763209] | uncertain significance | |
NC_000020.10:g.(?_31368130)_(34287210_?)del | deletion | Glutathione synthetase deficiency with 5-oxoprolinuria [RCV004579432] | Chr20:31368130..34287210 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NM_001282933.2(ZNF341):c.1536C>A (p.Phe512Leu) | single nucleotide variant | not provided [RCV003852662] | Chr20:33770206 [GRCh38] Chr20:32358012 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1511G>A (p.Arg504His) | single nucleotide variant | not provided [RCV001909241] | Chr20:33770181 [GRCh38] Chr20:32357987 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.1622+11C>A | single nucleotide variant | not provided [RCV002174174] | Chr20:33770303 [GRCh38] Chr20:32358109 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.2397G>A (p.Ala799=) | single nucleotide variant | not provided [RCV002104713] | Chr20:33791349 [GRCh38] Chr20:32379155 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.1461C>G (p.Leu487=) | single nucleotide variant | not provided [RCV002179885] | Chr20:33770131 [GRCh38] Chr20:32357937 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_001282933.2(ZNF341):c.826C>A (p.Pro276Thr) | single nucleotide variant | not provided [RCV003112573] | Chr20:33757232 [GRCh38] Chr20:32345038 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_001282933.2(ZNF341):c.645C>T (p.Asn215=) | single nucleotide variant | not provided [RCV003118168] | Chr20:33753327 [GRCh38] Chr20:32341133 [GRCh37] Chr20:20q11.22 |
likely benign |
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 | copy number gain | not provided [RCV002474532] | Chr20:29833535..34815537 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_001282933.2(ZNF341):c.1943A>G (p.Lys648Arg) | single nucleotide variant | not provided [RCV003020821] | Chr20:33788953 [GRCh38] Chr20:32376759 [GRCh37] Chr20:20q11.22 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH92431 |
|
|||||||||||||||||||||||||||||||||||
Z94663 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_053072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001282933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001282935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_104259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK027550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK095848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK122943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL050349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC040440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC132873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC146811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC157823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB091229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF456883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000342427 ⟹ ENSP00000344308 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000375200 ⟹ ENSP00000364346 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000483118 ⟹ ENSP00000432933 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000493497 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000497876 ⟹ ENSP00000434423 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000698694 ⟹ ENSP00000513875 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000698695 ⟹ ENSP00000513876 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001282933 ⟹ NP_001269862 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001282935 ⟹ NP_001269864 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_032819 ⟹ NP_116208 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_104259 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001269862 | (Get FASTA) | NCBI Sequence Viewer |
NP_001269864 | (Get FASTA) | NCBI Sequence Viewer | |
NP_116208 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH94738 | (Get FASTA) | NCBI Sequence Viewer |
AAI32874 | (Get FASTA) | NCBI Sequence Viewer | |
AAI44189 | (Get FASTA) | NCBI Sequence Viewer | |
AAI46812 | (Get FASTA) | NCBI Sequence Viewer | |
AAI57824 | (Get FASTA) | NCBI Sequence Viewer | |
BAB55193 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53359 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76295 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76296 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76297 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000344308 | ||
ENSP00000344308.2 | |||
ENSP00000364346 | |||
ENSP00000364346.1 | |||
ENSP00000432933.1 | |||
ENSP00000434423.1 | |||
ENSP00000513875.1 | |||
ENSP00000513876.1 | |||
GenBank Protein | Q9BYN7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_116208 ⟸ NM_032819 |
- Peptide Label: | isoform 2 |
- UniProtKB: | B3KU97 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001269862 ⟸ NM_001282933 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B2RXE5 (UniProtKB/Swiss-Prot), Q5JXM8 (UniProtKB/Swiss-Prot), B7ZM09 (UniProtKB/Swiss-Prot), A2RUF4 (UniProtKB/Swiss-Prot), Q96ST5 (UniProtKB/Swiss-Prot), Q9BYN7 (UniProtKB/Swiss-Prot), Q504V9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001269864 ⟸ NM_001282935 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q504V9 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000364346 ⟸ ENST00000375200 |
Ensembl Acc Id: | ENSP00000432933 ⟸ ENST00000483118 |
Ensembl Acc Id: | ENSP00000434423 ⟸ ENST00000497876 |
Ensembl Acc Id: | ENSP00000344308 ⟸ ENST00000342427 |
Ensembl Acc Id: | ENSP00000513876 ⟸ ENST00000698695 |
Ensembl Acc Id: | ENSP00000513875 ⟸ ENST00000698694 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BYN7-F1-model_v2 | AlphaFold | Q9BYN7 | 1-854 | view protein structure |
RGD ID: | 6798718 | ||||||||
Promoter ID: | HG_KWN:39102 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000342427, ENST00000375196, ENST00000375200, UC010GER.1 | ||||||||
Position: |
|
RGD ID: | 13206709 | ||||||||
Promoter ID: | EPDNEW_H26935 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | ZNF341_1 | ||||||||
Description: | zinc finger protein 341 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:15992 | AgrOrtholog |
COSMIC | ZNF341 | COSMIC |
Ensembl Genes | ENSG00000131061 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000342427 | ENTREZGENE |
ENST00000342427.6 | UniProtKB/Swiss-Prot | |
ENST00000375200 | ENTREZGENE | |
ENST00000375200.6 | UniProtKB/Swiss-Prot | |
ENST00000483118 | ENTREZGENE | |
ENST00000483118.5 | UniProtKB/TrEMBL | |
ENST00000497876.5 | UniProtKB/TrEMBL | |
ENST00000698694.1 | UniProtKB/TrEMBL | |
ENST00000698695.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Classic Zinc Finger | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000131061 | GTEx |
HGNC ID | HGNC:15992 | ENTREZGENE |
Human Proteome Map | ZNF341 | Human Proteome Map |
InterPro | Zinc_finger | UniProtKB/TrEMBL |
ZNF800/341 | UniProtKB/TrEMBL | |
Znf_C2H2_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_C2H2_type | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:84905 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 84905 | ENTREZGENE |
OMIM | 618269 | OMIM |
PANTHER | C2H2-TYPE DOMAIN-CONTAINING PROTEIN | UniProtKB/Swiss-Prot |
C2H2-TYPE DOMAIN-CONTAINING PROTEIN | UniProtKB/TrEMBL | |
FINGER PROTEIN, PUTATIVE-RELATED | UniProtKB/TrEMBL | |
IP01257P-RELATED | UniProtKB/TrEMBL | |
KRAB AND ZINC FINGER DOMAIN-CONTAINING | UniProtKB/TrEMBL | |
PR DOMAIN ZINC FINGER PROTEIN | UniProtKB/TrEMBL | |
PRIMATE-EXPANDED PROTEIN FAMILY | UniProtKB/TrEMBL | |
UNCHARACTERIZED | UniProtKB/TrEMBL | |
ZINC FINGER PROTEIN | UniProtKB/Swiss-Prot | |
ZINC FINGER PROTEIN 800 | UniProtKB/TrEMBL | |
Pfam | zf-C2H2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
zf-C2H2_6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA38076 | PharmGKB |
PROSITE | ZINC_FINGER_C2H2_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ZINC_FINGER_C2H2_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | ZnF_C2H2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF57667 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8V8TML2_HUMAN | UniProtKB/TrEMBL |
A0A8V8TNW4_HUMAN | UniProtKB/TrEMBL | |
A2RUF4 | ENTREZGENE | |
B2RXE5 | ENTREZGENE | |
B3KU97 | ENTREZGENE, UniProtKB/TrEMBL | |
B7ZM09 | ENTREZGENE | |
E9PN62_HUMAN | UniProtKB/TrEMBL | |
E9PQQ0_HUMAN | UniProtKB/TrEMBL | |
Q504V9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JXM8 | ENTREZGENE | |
Q96ST5 | ENTREZGENE | |
Q9BYN7 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A2RUF4 | UniProtKB/Swiss-Prot |
B2RXE5 | UniProtKB/Swiss-Prot | |
B7ZM09 | UniProtKB/Swiss-Prot | |
Q5JXM8 | UniProtKB/Swiss-Prot | |
Q96ST5 | UniProtKB/Swiss-Prot |