|
|
Symbol |
Object Name |
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
M |
2510002D24Rik
|
RIKEN cDNA 2510002D24 gene
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910
|
|
G
|
N |
Aifm3
|
AIF family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621
|
|
G
|
G |
AIFM3
|
AIF family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,901,118...4,917,290
Ensembl chr19:4,904,050...4,918,224
|
|
G
|
P |
AIFM3
|
apoptosis inducing factor mitochondria associated 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,562,611...50,576,273
Ensembl chr14:50,562,776...50,576,275
|
|
G
|
S |
Aifm3
|
AIF family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,485,840...2,505,075
Ensembl chrNW_004936619:2,493,256...2,504,322
|
|
G
|
D |
AIFM3
|
apoptosis inducing factor mitochondria associated 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,520,542...30,533,256
Ensembl chr26:30,519,872...30,532,796
|
|
G
|
B |
AIFM3
|
AIF family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,189,169...3,205,394
Ensembl chr22:19,679,873...19,695,349
|
|
G
|
C |
Aifm3
|
AIF family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,334,217...19,346,438
Ensembl chrNW_004955442:19,333,591...19,346,438
|
|
G
|
R |
Aifm3
|
AIF family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
|
|
G
|
M |
Aifm3
|
apoptosis-inducing factor, mitochondrion-associated 3
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,307,418...17,325,349
Ensembl chr16:17,307,475...17,325,349
|
|
G
|
H |
AIFM3
|
AIF family member 3
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,965,172...20,981,358
Ensembl chr22:20,965,108...20,981,360
|
|
G
|
N |
Arvcf
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988
|
|
G
|
G |
ARVCF
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109
|
|
G
|
P |
ARVCF
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
|
|
G
|
S |
Arvcf
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,884,450...3,934,559
Ensembl chrNW_004936619:3,884,783...3,928,769
|
|
G
|
D |
ARVCF
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245
|
|
G
|
B |
ARVCF
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
|
|
G
|
C |
Arvcf
|
ARVCF delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
|
|
G
|
R |
Arvcf
|
ARVCF, delta catenin family member
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
|
|
G
|
M |
Arvcf
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826
|
|
G
|
H |
ARVCF
|
ARVCF delta catenin family member
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
|
|
G
|
R |
C11h22orf39
|
similar to human chromosome 22 open reading frame 39
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
|
|
G
|
P |
C14H22orf39
|
chromosome 14 C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
|
|
G
|
H |
C22orf39
|
chromosome 22 open reading frame 39
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711
|
|
G
|
B |
C23H22orf39
|
chromosome 23 C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694
|
|
G
|
D |
C26H22orf39
|
chromosome 26 C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,765,870...29,770,079
Ensembl chr26:29,765,936...29,769,471
|
|
G
|
N |
Ccdc188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:756,298...759,056
|
|
G
|
G |
CCDC188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,589,399...5,592,135
|
|
G
|
P |
CCDC188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,517,669...51,520,622
Ensembl chr14:51,517,234...51,520,622
|
|
G
|
S |
Ccdc188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:4,048,686...4,049,853
|
|
G
|
D |
CCDC188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,189,736...29,194,606
Ensembl chr26:29,189,880...29,192,286
|
|
G
|
B |
CCDC188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr22:18,582,301...18,585,074
|
|
G
|
C |
Ccdc188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,962,249...17,965,261
|
|
G
|
R |
Ccdc188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
|
|
G
|
M |
Ccdc188
|
coiled-coil domain containing 188
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,032,091...18,038,211
Ensembl chr16:18,035,743...18,038,212
|
|
G
|
H |
CCDC188
|
coiled-coil domain containing 188
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,148,416...20,151,055
Ensembl chr22:20,148,416...20,151,055
|
|
G
|
N |
Cdc45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553
|
|
G
|
G |
CDC45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294
|
|
G
|
P |
CDC45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
|
|
G
|
S |
Cdc45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,420,110...3,452,419
Ensembl chrNW_004936619:3,420,191...3,452,436
|
|
G
|
D |
CDC45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252
|
|
G
|
B |
CDC45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
|
|
G
|
C |
Cdc45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805
|
|
G
|
R |
Cdc45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
|
|
G
|
M |
Cdc45
|
cell division cycle 45
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737
|
|
G
|
H |
CDC45
|
cell division cycle 45
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G
|
N |
Cldn5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417
|
|
G
|
G |
CLDN5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621
|
|
G
|
P |
CLDN5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
|
|
G
|
S |
Cldn5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,455,508...3,457,053
Ensembl chrNW_004936619:3,456,166...3,456,822
|
|
G
|
D |
CLDN5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339
|
|
G
|
B |
CLDN5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093
|
|
G
|
C |
Cldn5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332
|
|
G
|
R |
Cldn5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
|
|
G
|
M |
Cldn5
|
claudin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012
|
|
G
|
H |
CLDN5
|
claudin 5
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
|
|
G
|
G |
CLTCL1
|
clathrin heavy chain like 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,455,178...6,568,930
Ensembl chr19:6,455,248...6,573,058
|
|
G
|
S |
Cltcl1
|
clathrin heavy chain like 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,181,890...3,276,305
Ensembl chrNW_004936619:3,181,516...3,276,328
|
|
G
|
D |
CLTCL1
|
clathrin heavy chain like 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,907,235...30,002,136
Ensembl chr26:29,906,278...30,002,128
|
|
G
|
B |
CLTCL1
|
clathrin heavy chain like 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231
|
|
G
|
C |
Cltcl1
|
clathrin heavy chain like 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104
|
|
G
|
H |
CLTCL1
|
clathrin heavy chain like 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
|
|
G
|
N |
Comt
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
|
|
G
|
G |
COMT
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422
|
|
G
|
P |
COMT
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
|
|
G
|
S |
Comt
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747
|
|
G
|
D |
COMT
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
|
|
G
|
B |
COMT
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
|
|
G
|
C |
Comt
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
|
|
G
|
R |
Comt
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
|
|
G
|
M |
Comt
|
catechol-O-methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
|
|
G
|
H |
COMT
|
catechol-O-methyltransferase
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
|
|
G
|
N |
Crkl
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168
|
|
G
|
G |
CRKL
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
P |
CRKL
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
|
|
G
|
S |
Crkl
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,447,686...2,479,589
Ensembl chrNW_004936619:2,447,614...2,479,805
|
|
G
|
D |
CRKL
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964
|
|
G
|
B |
CRKL
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858
|
|
G
|
C |
Crkl
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815
|
|
G
|
R |
Crkl
|
CRK like proto-oncogene, adaptor protein
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
|
|
G
|
M |
Crkl
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298
|
|
G
|
H |
CRKL
|
CRK like proto-oncogene, adaptor protein
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
|
|
G
|
N |
CUNH22orf39
|
chromosome unknown C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382
|
|
G
|
G |
CUNH22orf39
|
chromosome unknown C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,307,277...6,312,609
Ensembl chr19:6,307,916...6,311,459
|
|
G
|
S |
CUNH22orf39
|
chromosome unknown C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,388,427...3,393,299
Ensembl chrNW_004936619:3,388,427...3,393,253
|
|
G
|
C |
CUNH22orf39
|
chromosome unknown C22orf39 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076
|
|
G
|
H |
DGCR11
|
DiGeorge syndrome critical region gene 11
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,046,162...19,048,375
Ensembl chr22:19,046,162...19,048,375
|
|
G
|
N |
Dgcr2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341
|
|
G
|
G |
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,628,092...6,710,070
Ensembl chr19:6,628,096...6,707,507
|
|
G
|
P |
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
|
|
G
|
S |
Dgcr2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,033,312...3,120,473
Ensembl chrNW_004936619:3,033,275...3,121,093
|
|
G
|
D |
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,051,598...30,143,192
Ensembl chr26:30,054,116...30,141,533
|
|
G
|
B |
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161
|
|
G
|
C |
Dgcr2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680
|
|
G
|
R |
Dgcr2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
|
|
G
|
M |
Dgcr2
|
DiGeorge syndrome critical region gene 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426
|
|
G
|
H |
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
|
|
G
|
H |
DGCR5
|
DiGeorge syndrome critical region gene 5
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:18,970,468...19,031,242
Ensembl chr22:18,969,692...19,031,242
|
|
G
|
N |
Dgcr6l
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:905,239...910,562
|
|
G
|
G |
DGCR6L
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:2,436,534...2,441,930
|
|
G
|
P |
DGCR6L
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,644,840...51,657,368
|
|
G
|
S |
Dgcr6l
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:4,203,792...4,209,417
|
|
G
|
D |
DGCR6L
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,032,221...29,038,556
|
|
G
|
B |
DGCR6L
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
C |
Dgcr6l
|
DiGeorge syndrome critical region gene 6 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,810,570...17,815,905
|
|
G
|
H |
DGCR6L
|
DiGeorge syndrome critical region gene 6 like
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,314,238...20,320,060
Ensembl chr22:20,314,238...20,320,080
|
|
G
|
N |
Dgcr8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266
|
|
G
|
G |
DGCR8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191
|
|
G
|
P |
DGCR8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,473,512...51,489,535
Ensembl chr14:51,469,178...51,489,529
|
|
G
|
S |
Dgcr8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,977,307...4,014,490
Ensembl chrNW_004936619:3,977,144...4,014,273 Ensembl chrNW_004936619:3,977,144...4,014,273
|
|
G
|
D |
DGCR8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
B |
DGCR8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740
|
|
G
|
C |
Dgcr8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831
|
|
G
|
R |
Dgcr8
|
DGCR8 microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
|
|
G
|
M |
Dgcr8
|
DGCR8, microprocessor complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110
|
|
G
|
H |
DGCR8
|
DGCR8 microprocessor complex subunit
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
|
|
G
|
N |
Ess2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040
|
|
G
|
G |
ESS2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,604,275...6,615,316
Ensembl chr19:6,604,345...6,615,055
|
|
G
|
P |
ESS2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
|
|
G
|
S |
Ess2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,132,234...3,154,091
Ensembl chrNW_004936619:3,130,927...3,154,098
|
|
G
|
D |
ESS2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,037,954...30,048,487
Ensembl chr26:30,038,015...30,049,204
|
|
G
|
B |
ESS2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686
|
|
G
|
C |
Ess2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542
|
|
G
|
R |
Ess2
|
ess-2 splicing factor homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
|
|
G
|
M |
Ess2
|
ess-2 splicing factor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212
|
|
G
|
H |
ESS2
|
ess-2 splicing factor homolog
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
|
|
G
|
H |
FAM230G
|
family with sequence similarity 230 member G
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,338,030...20,352,496
Ensembl chr22:20,337,895...20,354,372
|
|
G
|
H |
FAM246C
|
family with sequence similarity 246 member C (gene/pseudogene)
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,029,524...19,030,221
Ensembl chr22:19,029,524...19,031,242
|
|
G
|
M |
Gm14305
|
predicted gene 14305
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606
|
|
G
|
M |
Gm25777
|
predicted gene, 25777
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,058,581...18,058,706
Ensembl chr16:18,058,581...18,058,706
|
|
G
|
N |
Gnb1l
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529
|
|
G
|
G |
GNB1L
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510
|
|
G
|
P |
GNB1L
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
|
|
G
|
S |
Gnb1l
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,691,327...3,760,906
Ensembl chrNW_004936619:3,691,074...3,761,425
|
|
G
|
D |
GNB1L
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792
|
|
G
|
B |
GNB1L
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580
|
|
G
|
C |
Gnb1l
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,224,081...18,281,558
|
|
G
|
R |
Gnb1l
|
G protein subunit beta 1 like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
|
|
G
|
M |
Gnb1l
|
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429
|
|
G
|
H |
GNB1L
|
G protein subunit beta 1 like
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939
|
|
G
|
N |
Gp1bb
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170
|
|
G
|
G |
GP1BB
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,020,618...6,021,646
|
|
G
|
P |
GP1BB
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
|
|
G
|
S |
Gp1bb
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,627,649...3,629,129
Ensembl chrNW_004936619:3,627,999...3,628,859
|
|
G
|
D |
GP1BB
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522
|
|
G
|
B |
GP1BB
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,485,350...2,486,688
|
|
G
|
C |
Gp1bb
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
|
|
G
|
R |
Gp1bb
|
glycoprotein Ib platelet subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
|
|
G
|
M |
Gp1bb
|
glycoprotein Ib, beta polypeptide
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
|
|
G
|
H |
GP1BB
|
glycoprotein Ib platelet subunit beta
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
|
|
G
|
N |
Gsc2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191
|
|
G
|
G |
GSC2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,598,246...6,601,230
Ensembl chr19:6,598,259...6,599,532
|
|
G
|
P |
GSC2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
|
|
G
|
S |
Gsc2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,154,834...3,158,654
Ensembl chrNW_004936619:3,157,228...3,174,086
|
|
G
|
D |
GSC2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,033,185...30,034,174
|
|
G
|
B |
GSC2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,901,389...1,904,671
|
|
G
|
C |
Gsc2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760
|
|
G
|
R |
Gsc2
|
goosecoid homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
|
|
G
|
M |
Gsc2
|
goosecoid homebox 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923
|
|
G
|
H |
GSC2
|
goosecoid homeobox 2
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292
|
|
G
|
G |
HIRA
|
histone cell cycle regulator
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641
|
|
G
|
P |
HIRA
|
histone cell cycle regulator
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
|
|
G
|
D |
HIRA
|
histone cell cycle regulator
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559
|
|
G
|
R |
Hira
|
histone cell cycle regulator
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
|
|
G
|
M |
Hira
|
histone cell cycle regulator
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059
|
|
G
|
H |
HIRA
|
histone cell cycle regulator
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
|
|
G
|
N |
Klhl22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975
|
|
G
|
G |
KLHL22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063
|
|
G
|
P |
KLHL22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,773,917...50,809,991
Ensembl chr14:50,773,964...50,809,986
|
|
G
|
S |
Klhl22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,854,915...2,899,386
Ensembl chrNW_004936619:2,854,803...2,899,460
|
|
G
|
D |
KLHL22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,248,253...30,281,989
Ensembl chr26:30,248,240...30,281,843
|
|
G
|
B |
KLHL22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr22:19,122,875...19,174,842
|
|
G
|
C |
Klhl22
|
kelch like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,010,971...19,051,300
Ensembl chrNW_004955442:19,009,155...19,051,393
|
|
G
|
R |
Klhl22
|
kelch-like family member 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
|
|
G
|
M |
Klhl22
|
kelch-like 22
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246
|
|
G
|
H |
KLHL22
|
kelch like family member 22
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,441,519...20,495,795
Ensembl chr22:20,441,519...20,495,844
|
|
G
|
H |
LINC00895
|
long intergenic non-protein coding RNA 895
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,566,130...19,566,839
Ensembl chr22:19,551,558...19,566,839
|
|
G
|
H |
LINC00896
|
long intergenic non-protein coding RNA 896
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,206,332...20,208,537
Ensembl chr22:20,206,340...20,235,981
|
|
G
|
H |
LINC01311
|
long intergenic non-protein coding RNA 1311
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,171,706...19,172,832
Ensembl chr22:19,171,395...19,185,045
|
|
G
|
H |
LINC01637
|
long intergenic non-protein coding RNA 1637
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,957,092...20,964,680
Ensembl chr22:20,957,092...20,964,881
|
|
G
|
H |
LINC02891
|
long intergenic non-protein coding RNA 2891
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,198,729...20,204,918
Ensembl chr22:20,198,729...20,212,221
|
|
G
|
B |
LOC100977781
|
protein HIRA
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084
|
|
G
|
N |
LOC101713307
|
protein HIRA
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:9...95,643
|
|
G
|
S |
LOC101957075
|
protein HIRA
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,282,170...3,380,151
Ensembl chrNW_004936619:3,282,173...3,380,151
|
|
G
|
C |
LOC102009660
|
protein HIRA
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761
|
|
G
|
H |
LOC108510655
|
enhancer-blocking element 22-3 upstream of CCDC188
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,157,040...20,157,277
|
|
G
|
H |
LOC110120888
|
VISTA enhancer hs515
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,761,833...19,762,532
|
|
G
|
H |
LOC110121413
|
VISTA enhancer hs1620
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,420,771...20,424,717
|
|
G
|
B |
LOC112438147
|
protein FAM246C
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,783,387...1,785,859
|
|
G
|
H |
LOC112694764
|
Sharpr-MPRA regulatory region 10527
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,947,746...19,948,040
|
|
G
|
H |
LOC112694766
|
Sharpr-MPRA regulatory region 2516
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,951,646...19,951,940
|
|
G
|
H |
LOC112694767
|
Sharpr-MPRA regulatory region 818
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,979,400...20,979,694
|
|
G
|
H |
LOC114004361
|
Sharpr-MPRA regulatory region 11686
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,155,386...20,155,680
|
|
G
|
M |
LOC114827938
|
VISTA enhancer mm1629
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,627,075...17,629,017
|
|
G
|
H |
LOC116309126
|
CRISPRi-validated cis-regulatory element chr22.250
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,627,502...19,627,582
|
|
G
|
H |
LOC116309127
|
CRISPRi-validated cis-regulatory element chr22.431
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,187,977...20,188,680
|
|
G
|
B |
LOC117978839
|
putative ubiquitin carboxyl-terminal hydrolase 41
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
D |
LOC119866289
|
small nucleolar RNA SNORA77
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
R |
LOC120095536
|
protein FAM246A-like
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
|
|
G
|
H |
LOC121627929
|
Sharpr-MPRA regulatory region 13949
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,730,626...19,730,920
|
|
G
|
H |
LOC121627930
|
Sharpr-MPRA regulatory region 10582
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,777,801...20,778,095
|
|
G
|
H |
LOC121627931
|
Sharpr-MPRA regulatory region 10319
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,867,421...20,868,107
|
|
G
|
H |
LOC125424386
|
Sharpr-MPRA regulatory region 15144
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,619,686...19,619,980
|
|
G
|
H |
LOC125424387
|
Sharpr-MPRA regulatory region 11316
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,238,546...20,238,840
|
|
G
|
H |
LOC125424388
|
Sharpr-MPRA regulatory region 9836
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,319,406...20,319,700
|
|
G
|
H |
LOC126863097
|
BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,233,228...19,234,427
|
|
G
|
H |
LOC126863098
|
BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,906,866...19,908,065
|
|
G
|
H |
LOC129391263
|
MPRA-validated peak4453 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,538,472...19,538,672
|
|
G
|
H |
LOC129391264
|
MPRA-validated peak4456 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,351,385...20,351,585
|
|
G
|
H |
LOC129391265
|
MPRA-validated peak4458 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,650,253...20,650,453
|
|
G
|
H |
LOC129391266
|
MPRA-validated peak4460 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,876,967...20,877,167
|
|
G
|
H |
LOC129391267
|
MPRA-validated peak4461 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr22:21,086,189...21,086,389
|
|
G
|
H |
LOC130066949
|
ATAC-STARR-seq lymphoblastoid silent region 13451
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,036,019...19,036,188
|
|
G
|
H |
LOC130066950
|
ATAC-STARR-seq lymphoblastoid silent region 13452
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,109,713...19,109,762
|
|
G
|
H |
LOC130066951
|
ATAC-STARR-seq lymphoblastoid silent region 13454
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,122,297...19,122,736
|
|
G
|
H |
LOC130066952
|
ATAC-STARR-seq lymphoblastoid silent region 13457
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,179,233...19,179,332
|
|
G
|
H |
LOC130066953
|
ATAC-STARR-seq lymphoblastoid active region 18658
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,430,200...19,430,329
|
|
G
|
H |
LOC130066954
|
ATAC-STARR-seq lymphoblastoid silent region 13459
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,431,620...19,432,019
|
|
G
|
H |
LOC130066955
|
ATAC-STARR-seq lymphoblastoid silent region 13460
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,432,310...19,432,619
|
|
G
|
H |
LOC130066956
|
ATAC-STARR-seq lymphoblastoid silent region 13462
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,478,960...19,479,029
|
|
G
|
H |
LOC130066957
|
ATAC-STARR-seq lymphoblastoid active region 18660
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,479,430...19,479,729
|
|
G
|
H |
LOC130066958
|
ATAC-STARR-seq lymphoblastoid silent region 13463
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,479,820...19,479,869
|
|
G
|
H |
LOC130066959
|
ATAC-STARR-seq lymphoblastoid active region 18663
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,855,405...19,855,884
|
|
G
|
H |
LOC130066960
|
ATAC-STARR-seq lymphoblastoid silent region 13467
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,941,590...19,941,759
|
|
G
|
H |
LOC130066961
|
ATAC-STARR-seq lymphoblastoid silent region 13468
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,941,830...19,941,959
|
|
G
|
H |
LOC130066962
|
ATAC-STARR-seq lymphoblastoid silent region 13469
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,941,970...19,942,019
|
|
G
|
H |
LOC130066963
|
ATAC-STARR-seq lymphoblastoid active region 18664
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,942,290...19,942,459
|
|
G
|
H |
LOC130066964
|
ATAC-STARR-seq lymphoblastoid active region 18665
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,943,120...19,943,239
|
|
G
|
H |
LOC130066965
|
ATAC-STARR-seq lymphoblastoid silent region 13470
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,986,901...19,987,340
|
|
G
|
H |
LOC130066966
|
ATAC-STARR-seq lymphoblastoid silent region 13471
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,016,715...20,017,114
|
|
G
|
H |
LOC130066967
|
ATAC-STARR-seq lymphoblastoid silent region 13472
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,020,873...20,021,262
|
|
G
|
H |
LOC130066968
|
ATAC-STARR-seq lymphoblastoid active region 18666
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,021,863...20,021,912
|
|
G
|
H |
LOC130066969
|
ATAC-STARR-seq lymphoblastoid active region 18667
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,023,231...20,023,370
|
|
G
|
H |
LOC130066970
|
ATAC-STARR-seq lymphoblastoid active region 18668
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,032,284...20,032,503
|
|
G
|
H |
LOC130066971
|
ATAC-STARR-seq lymphoblastoid active region 18669
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,034,187...20,034,256
|
|
G
|
H |
LOC130066972
|
ATAC-STARR-seq lymphoblastoid silent region 13473
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,080,120...20,080,739
|
|
G
|
H |
LOC130066973
|
ATAC-STARR-seq lymphoblastoid active region 18670
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,081,000...20,081,059
|
|
G
|
H |
LOC130066974
|
ATAC-STARR-seq lymphoblastoid silent region 13474
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,117,047...20,117,126
|
|
G
|
H |
LOC130066975
|
ATAC-STARR-seq lymphoblastoid silent region 13475
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,117,367...20,117,926
|
|
G
|
H |
LOC130066976
|
ATAC-STARR-seq lymphoblastoid silent region 13476
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,118,047...20,118,106
|
|
G
|
H |
LOC130066977
|
ATAC-STARR-seq lymphoblastoid active region 18671
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,128,907...20,128,956
|
|
G
|
H |
LOC130066978
|
ATAC-STARR-seq lymphoblastoid silent region 13477
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,131,017...20,131,406
|
|
G
|
H |
LOC130066979
|
ATAC-STARR-seq lymphoblastoid silent region 13478
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,131,607...20,131,676
|
|
G
|
H |
LOC130066980
|
ATAC-STARR-seq lymphoblastoid silent region 13481
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,147,007...20,147,126
|
|
G
|
H |
LOC130066981
|
ATAC-STARR-seq lymphoblastoid silent region 13482
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,147,167...20,147,236
|
|
G
|
H |
LOC130066982
|
ATAC-STARR-seq lymphoblastoid active region 18672
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,206,449...20,206,688
|
|
G
|
H |
LOC130066983
|
ATAC-STARR-seq lymphoblastoid silent region 13484
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,239,052...20,239,111
|
|
G
|
H |
LOC130066984
|
ATAC-STARR-seq lymphoblastoid active region 18673
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,243,715...20,243,764
|
|
G
|
H |
LOC130066985
|
ATAC-STARR-seq lymphoblastoid silent region 13485
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,268,062...20,268,221
|
|
G
|
H |
LOC130066986
|
ATAC-STARR-seq lymphoblastoid silent region 13486
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,268,312...20,268,471
|
|
G
|
H |
LOC130066987
|
ATAC-STARR-seq lymphoblastoid silent region 13487
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,268,522...20,268,581
|
|
G
|
H |
LOC130066988
|
ATAC-STARR-seq lymphoblastoid silent region 13488
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,285,821...20,285,890
|
|
G
|
H |
LOC130066989
|
ATAC-STARR-seq lymphoblastoid silent region 13489
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,298,962...20,299,231
|
|
G
|
H |
LOC130066990
|
ATAC-STARR-seq lymphoblastoid silent region 13490
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,299,272...20,299,451
|
|
G
|
H |
LOC130066991
|
ATAC-STARR-seq lymphoblastoid silent region 13491
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,299,472...20,299,611
|
|
G
|
H |
LOC130066992
|
ATAC-STARR-seq lymphoblastoid silent region 13492
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,299,682...20,299,991
|
|
G
|
H |
LOC130066993
|
ATAC-STARR-seq lymphoblastoid silent region 13493
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,319,737...20,319,966
|
|
G
|
H |
LOC130066994
|
ATAC-STARR-seq lymphoblastoid silent region 13494
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,320,097...20,320,226
|
|
G
|
H |
LOC130066995
|
ATAC-STARR-seq lymphoblastoid active region 18678
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,464,226...20,464,415
|
|
G
|
H |
LOC130066996
|
ATAC-STARR-seq lymphoblastoid silent region 13496
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,495,455...20,496,114
|
|
G
|
H |
LOC130066997
|
ATAC-STARR-seq lymphoblastoid active region 18679
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,507,593...20,507,702
|
|
G
|
H |
LOC130066998
|
ATAC-STARR-seq lymphoblastoid active region 18680
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,517,719...20,517,768
|
|
G
|
H |
LOC130066999
|
ATAC-STARR-seq lymphoblastoid active region 18681
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,551,306...20,551,395
|
|
G
|
H |
LOC130067000
|
ATAC-STARR-seq lymphoblastoid active region 18682
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,564,578...20,564,627
|
|
G
|
H |
LOC130067001
|
ATAC-STARR-seq lymphoblastoid silent region 13497
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,702,719...20,702,788
|
|
G
|
H |
LOC130067002
|
ATAC-STARR-seq lymphoblastoid active region 18683
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,703,019...20,703,128
|
|
G
|
H |
LOC130067003
|
ATAC-STARR-seq lymphoblastoid silent region 13499
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,745,303...20,745,352
|
|
G
|
H |
LOC130067004
|
ATAC-STARR-seq lymphoblastoid active region 18684
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,748,564...20,748,613
|
|
G
|
H |
LOC130067005
|
ATAC-STARR-seq lymphoblastoid active region 18685
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,748,624...20,748,803
|
|
G
|
H |
LOC130067006
|
ATAC-STARR-seq lymphoblastoid active region 18686
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,748,874...20,749,233
|
|
G
|
H |
LOC130067007
|
ATAC-STARR-seq lymphoblastoid active region 18687
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,750,326...20,750,445
|
|
G
|
H |
LOC130067008
|
ATAC-STARR-seq lymphoblastoid silent region 13500
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,858,420...20,858,469
|
|
G
|
H |
LOC130067009
|
ATAC-STARR-seq lymphoblastoid active region 18688
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,909,975...20,910,154
|
|
G
|
H |
LOC130067010
|
ATAC-STARR-seq lymphoblastoid silent region 13502
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,917,324...20,917,773
|
|
G
|
H |
LOC130067011
|
ATAC-STARR-seq lymphoblastoid active region 18689
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,918,064...20,918,123
|
|
G
|
H |
LOC130067012
|
ATAC-STARR-seq lymphoblastoid active region 18690
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,961,827...20,961,916
|
|
G
|
H |
LOC130067013
|
ATAC-STARR-seq lymphoblastoid active region 18691
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,961,957...20,962,016
|
|
G
|
H |
LOC130067014
|
ATAC-STARR-seq lymphoblastoid active region 18692
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,981,745...20,981,824
|
|
G
|
H |
LOC130067015
|
ATAC-STARR-seq lymphoblastoid active region 18693
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,981,875...20,981,974
|
|
G
|
H |
LOC130067016
|
ATAC-STARR-seq lymphoblastoid silent region 13504
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,982,365...20,982,494
|
|
G
|
H |
LOC130067017
|
ATAC-STARR-seq lymphoblastoid active region 18694
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,000,972...21,001,181
|
|
G
|
H |
LOC130067018
|
ATAC-STARR-seq lymphoblastoid silent region 13505
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,001,782...21,001,951
|
|
G
|
H |
LOC130067019
|
ATAC-STARR-seq lymphoblastoid silent region 13506
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,001,972...21,002,081
|
|
G
|
H |
LOC130067020
|
ATAC-STARR-seq lymphoblastoid active region 18695
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,014,045...21,014,194
|
|
G
|
H |
LOC132090627
|
Neanderthal introgressed variant-containing enhancer experimental_62558
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,135,625...19,135,794
|
|
G
|
H |
LOC132090628
|
Neanderthal introgressed variant-containing enhancer experimental_62670
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,412,728...20,412,897
|
|
G
|
H |
LOC132090629
|
Neanderthal introgressed variant-containing enhancer experimental_62725
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,450,997...20,451,166
|
|
G
|
H |
LOC132090630
|
Neanderthal introgressed variant-containing enhancer experimental_62734
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,451,314...20,451,483
|
|
G
|
H |
LOC132090631
|
Neanderthal introgressed variant-containing enhancer experimental_62743
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,455,346...20,455,515
|
|
G
|
H |
LOC132090632
|
Neanderthal introgressed variant-containing enhancer experimental_62777
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,526,739...20,526,908
|
|
G
|
H |
LOC132090633
|
Neanderthal introgressed variant-containing enhancer experimental_62783
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,537,556...20,537,725
|
|
G
|
H |
LOC132090634
|
Neanderthal introgressed variant-containing enhancer experimental_62800
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,547,324...20,547,493
|
|
G
|
H |
LOC132090635
|
Neanderthal introgressed variant-containing enhancer experimental_62813
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,554,143...20,554,312
|
|
G
|
H |
LOC132090636
|
Neanderthal introgressed variant-containing enhancer experimental_62823
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,561,245...20,561,414
|
|
G
|
H |
LOC132090637
|
Neanderthal introgressed variant-containing enhancer experimental_62834
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,571,388...20,571,557
|
|
G
|
H |
LOC132090638
|
Neanderthal introgressed variant-containing enhancer experimental_62844
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,572,441...20,572,610
|
|
G
|
H |
LOC132090918
|
Neanderthal introgressed variant-containing enhancer experimental_62637
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,373,300...20,373,469
|
|
G
|
H |
LOC132090919
|
Neanderthal introgressed variant-containing enhancer experimental_62654
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,405,030...20,405,199
|
|
G
|
H |
LOC132090920
|
Neanderthal introgressed variant-containing enhancer experimental_62657
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,405,297...20,405,466
|
|
G
|
N |
Lrrc74b
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865
|
|
G
|
G |
LRRC74B
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,988,262...5,005,253
Ensembl chr19:4,988,805...5,004,819
|
|
G
|
P |
LRRC74B
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,602,524...50,623,367
Ensembl chr14:50,602,701...50,623,116
|
|
G
|
S |
Lrrc74b
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,544,492...2,559,122
Ensembl chrNW_004936619:2,544,463...2,559,122
|
|
G
|
D |
LRRC74B
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,440,821...30,456,219
Ensembl chr26:30,441,439...30,456,178
|
|
G
|
B |
LRRC74B
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,271,045...3,293,410
Ensembl chr22:19,760,186...19,774,303
|
|
G
|
C |
Lrrc74b
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,272,350...19,296,090
Ensembl chrNW_004955442:19,272,433...19,287,527
|
|
G
|
R |
Lrrc74b
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
|
|
G
|
M |
Lrrc74b
|
leucine rich repeat containing 74B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,362,329...17,379,159
Ensembl chr16:17,362,329...17,379,111
|
|
G
|
H |
LRRC74B
|
leucine rich repeat containing 74B
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,045,946...21,064,168
Ensembl chr22:21,045,946...21,064,168
|
|
G
|
N |
Lztr1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
|
|
G
|
G |
LZTR1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439
|
|
G
|
P |
LZTR1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
|
|
G
|
S |
Lztr1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500
|
|
G
|
D |
LZTR1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
|
|
G
|
B |
LZTR1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
|
|
G
|
C |
Lztr1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522
|
|
G
|
R |
Lztr1
|
leucine zipper like post translational regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
|
|
G
|
M |
Lztr1
|
leucine-zipper-like transcriptional regulator, 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
|
|
G
|
H |
LZTR1
|
leucine zipper like post translational regulator 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
|
|
G
|
N |
Med15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:488,396...562,084
|
|
G
|
G |
MED15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139
|
|
G
|
P |
MED15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310
|
|
G
|
S |
Med15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,687,004...2,780,898
Ensembl chrNW_004936619:2,687,011...2,759,294
|
|
G
|
D |
MED15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,299,424...30,368,460
Ensembl chr26:30,299,442...30,367,572
|
|
G
|
B |
MED15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr22:19,192,156...19,271,965
|
|
G
|
C |
Med15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742
|
|
G
|
R |
Med15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
|
|
G
|
M |
Med15
|
mediator complex subunit 15
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755
|
|
G
|
H |
MED15
|
mediator complex subunit 15
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,507,610...20,587,619
Ensembl chr22:20,495,913...20,587,632
|
|
G
|
H |
MIR1286
|
microRNA 1286
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,249,134...20,249,211
Ensembl chr22:20,249,134...20,249,211
|
|
G
|
P |
MIR1306
|
microRNA mir-1306
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,473,918...51,473,997
Ensembl chr14:51,473,918...51,473,997
|
|
G
|
D |
MIR1306
|
microRNA mir-1306
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,255,671...29,255,728
Ensembl chr26:29,255,656...29,255,735
|
|
G
|
R |
Mir1306
|
microRNA 1306
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
|
|
G
|
M |
Mir1306
|
microRNA 1306
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,102,103...18,102,181
Ensembl chr16:18,102,103...18,102,181
|
|
G
|
H |
MIR1306
|
microRNA 1306
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,086,058...20,086,142
Ensembl chr22:20,086,058...20,086,142
|
|
G
|
P |
MIR185
|
microRNA mir-185
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,449,903...51,449,978
Ensembl chr14:51,449,903...51,449,978
|
|
G
|
D |
MIR185
|
microRNA mir-185
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,296,014...29,296,069
Ensembl chr26:29,296,004...29,296,079
|
|
G
|
R |
Mir185
|
microRNA 185
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
|
|
G
|
M |
Mir185
|
microRNA 185
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,145,265...18,145,329
Ensembl chr16:18,145,265...18,145,329
|
|
G
|
H |
MIR185
|
microRNA 185
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,033,139...20,033,220
Ensembl chr22:20,033,139...20,033,220
|
|
G
|
M |
Mir3618
|
microRNA 3618
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,102,414...18,102,501
Ensembl chr16:18,102,414...18,102,501
|
|
G
|
H |
MIR3618
|
microRNA 3618
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,085,746...20,085,833
Ensembl chr22:20,085,746...20,085,833
|
|
G
|
H |
MIR4761
|
microRNA 4761
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,963,753...19,963,834
Ensembl chr22:19,963,753...19,963,834
|
|
G
|
H |
MIR649
|
microRNA 649
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,034,176...21,034,272
Ensembl chr22:21,034,176...21,034,272
|
|
G
|
H |
MIR6816
|
microRNA 6816
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,114,686...20,114,751
Ensembl chr22:20,114,686...20,114,751
|
|
G
|
N |
Mrpl40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913
|
|
G
|
G |
MRPL40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,319,745...6,323,955
Ensembl chr19:6,319,263...6,323,799
|
|
G
|
P |
MRPL40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
|
|
G
|
S |
Mrpl40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,380,957...3,384,567
Ensembl chrNW_004936619:3,380,335...3,384,600
|
|
G
|
D |
MRPL40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,773,397...29,777,104
Ensembl chr26:29,773,403...29,777,073
|
|
G
|
B |
MRPL40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539
|
|
G
|
C |
Mrpl40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517
|
|
G
|
R |
Mrpl40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
|
|
G
|
M |
Mrpl40
|
mitochondrial ribosomal protein L40
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612
|
|
G
|
H |
MRPL40
|
mitochondrial ribosomal protein L40
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,432,545...19,436,075
Ensembl chr22:19,432,545...19,436,075
|
|
G
|
N |
P2rx6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075
|
|
G
|
G |
P2RX6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,958,713...4,969,443
Ensembl chr19:4,958,671...4,969,724
|
|
G
|
P |
P2RX6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,595,876...50,633,536
Ensembl chr14:50,622,938...50,633,535
|
|
G
|
S |
P2rx6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,560,685...2,567,612
Ensembl chrNW_004936619:2,560,759...2,566,355
|
|
G
|
D |
P2RX6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,456,231...30,467,674
Ensembl chr26:30,457,014...30,466,152
|
|
G
|
B |
P2RX6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,239,019...3,251,966
Ensembl chr22:19,728,644...19,741,078
|
|
G
|
C |
P2rx6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,263,544...19,272,231
Ensembl chrNW_004955442:19,264,790...19,271,537
|
|
G
|
R |
P2rx6
|
purinergic receptor P2X 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
|
|
G
|
M |
P2rx6
|
purinergic receptor P2X, ligand-gated ion channel, 6
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,379,749...17,389,879
Ensembl chr16:17,379,749...17,395,664
|
|
G
|
H |
P2RX6
|
purinergic receptor P2X 6
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,009,799...21,028,008
Ensembl chr22:21,009,808...21,028,013
|
|
G
|
N |
Pi4ka
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
|
|
G
|
G |
PI4KA
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396
|
|
G
|
P |
PI4KA
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
|
|
G
|
S |
Pi4ka
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093
|
|
G
|
D |
PI4KA
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126
|
|
G
|
B |
PI4KA
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,931,523...3,082,475
|
|
G
|
C |
Pi4ka
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725
|
|
G
|
R |
Pi4ka
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
|
|
G
|
M |
Pi4ka
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
|
|
G
|
H |
PI4KA
|
phosphatidylinositol 4-kinase alpha
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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|
G
|
N |
Ranbp1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043
|
|
G
|
G |
RANBP1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191
|
|
G
|
P |
RANBP1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,494,258...51,500,420
Ensembl chr14:51,494,359...51,500,417
|
|
G
|
D |
RANBP1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,211,559...29,219,247
Ensembl chr26:29,211,863...29,220,451
|
|
G
|
B |
RANBP1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573
|
|
G
|
C |
Ranbp1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759
|
|
G
|
R |
Ranbp1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
|
|
G
|
M |
Ranbp1
|
RAN binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596
|
|
G
|
H |
RANBP1
|
RAN binding protein 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355
|
|
G
|
N |
Rtl10
|
retrotransposon Gag like 10
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:484,995...486,791
|
|
G
|
G |
RTL10
|
retrotransposon Gag like 10
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,890,989...5,895,243
|
|
G
|
P |
RTL10
|
retrotransposon Gag like 10
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,338,134...51,342,383
|
|
G
|
S |
Rtl10
|
retrotransposon Gag like 10
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,755,537...3,760,909
|
|
G
|
B |
RTL10
|
retrotransposon Gag like 10
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,607,363...2,616,113
|
|
G
|
H |
RTL10
|
retrotransposon Gag like 10
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896
|
|
G
|
N |
Rtn4r
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991
|
|
G
|
G |
RTN4R
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,469,854...5,497,858
|
|
G
|
P |
RTN4R
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,579,043...51,603,180
Ensembl chr14:51,579,046...51,602,968
|
|
G
|
S |
Rtn4r
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:4,130,757...4,155,885
Ensembl chrNW_004936619:4,130,748...4,155,894
|
|
G
|
D |
RTN4R
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,109,991...29,117,319
Ensembl chr26:29,113,428...29,115,918
|
|
G
|
B |
RTN4R
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr22:18,673,548...18,680,017
|
|
G
|
C |
Rtn4r
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820
|
|
G
|
R |
Rtn4r
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
|
|
G
|
M |
Rtn4r
|
reticulon 4 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272
|
|
G
|
H |
RTN4R
|
reticulon 4 receptor
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,241,415...20,268,318
Ensembl chr22:20,241,415...20,283,246
|
|
G
|
N |
Scarf2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958
|
|
G
|
G |
SCARF2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092
|
|
G
|
P |
SCARF2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521
|
|
G
|
S |
Scarf2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,900,536...2,915,306
Ensembl chrNW_004936619:2,903,824...2,914,518
|
|
G
|
D |
SCARF2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,231,967...30,243,693
Ensembl chr26:30,233,669...30,239,151
|
|
G
|
B |
SCARF2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
C |
Scarf2
|
scavenger receptor class F member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624
|
|
G
|
R |
Scarf2
|
scavenger receptor class F, member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
|
|
G
|
M |
Scarf2
|
scavenger receptor class F, member 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157
|
|
G
|
H |
SCARF2
|
scavenger receptor class F member 2
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
|
|
G
|
N |
Septin5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561
|
|
G
|
G |
SEPTIN5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,022,074...6,030,880
Ensembl chr19:6,020,917...6,030,821
|
|
G
|
P |
SEPTIN5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
|
|
G
|
S |
Septin5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,619,008...3,627,762
Ensembl chrNW_004936619:3,618,597...3,630,264
|
|
G
|
D |
SEPTIN5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,568,776...29,573,837
Ensembl chr26:29,569,586...29,573,842
|
|
G
|
B |
SEPTIN5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,476,400...2,485,225
Ensembl chr22:18,150,865...18,159,697
|
|
G
|
C |
Septin5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,361,072...18,369,648
Ensembl chrNW_004955442:18,359,609...18,369,648
|
|
G
|
R |
Septin5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
|
|
G
|
M |
Septin5
|
septin 5
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704
|
|
G
|
H |
SEPTIN5
|
septin 5
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,717,220...19,724,774
Ensembl chr22:19,717,220...19,724,772 Ensembl chr22:19,717,220...19,724,772
|
|
G
|
H |
SEPTIN5
|
septin 5
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224
|
|
G
|
N |
Serpind1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515
|
|
G
|
G |
SERPIND1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111
|
|
G
|
P |
SERPIND1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
|
|
G
|
S |
Serpind1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,298,745...2,310,740
Ensembl chrNW_004936619:2,298,893...2,310,716
|
|
G
|
D |
SERPIND1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848
|
|
G
|
B |
SERPIND1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380
|
|
G
|
C |
Serpind1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384
|
|
G
|
R |
Serpind1
|
serpin family D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
|
|
G
|
M |
Serpind1
|
serine (or cysteine) peptidase inhibitor, clade D, member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
|
|
G
|
H |
SERPIND1
|
serpin family D member 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
|
|
G
|
N |
Slc25a1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667
|
|
G
|
G |
SLC25A1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,569,627...6,572,872
|
|
G
|
P |
SLC25A1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
|
|
G
|
S |
Slc25a1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,177,868...3,181,095
Ensembl chrNW_004936619:3,177,871...3,181,099
|
|
G
|
D |
SLC25A1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444
|
|
G
|
B |
SLC25A1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463
|
|
G
|
C |
Slc25a1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
|
|
G
|
R |
Slc25a1
|
solute carrier family 25 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
|
|
G
|
M |
Slc25a1
|
solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083
|
|
G
|
H |
SLC25A1
|
solute carrier family 25 member 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
|
|
G
|
N |
Slc7a4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231
|
|
G
|
G |
SLC7A4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,970,147...4,973,603
Ensembl chr19:4,970,483...4,973,230
|
|
G
|
P |
SLC7A4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,631,693...50,638,381
Ensembl chr14:50,633,878...50,637,404
|
|
G
|
S |
Slc7a4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,568,322...2,572,391
Ensembl chrNW_004936619:2,567,887...2,572,394
|
|
G
|
D |
SLC7A4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,467,817...30,472,806
Ensembl chr26:30,468,789...30,471,458
|
|
G
|
B |
SLC7A4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,252,667...3,256,561
Ensembl chr22:19,738,025...19,744,931
|
|
G
|
C |
Slc7a4
|
solute carrier family 7 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,258,901...19,263,317
Ensembl chrNW_004955442:19,258,796...19,263,317
|
|
G
|
R |
Slc7a4
|
solute carrier family 7, member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
|
|
G
|
M |
Slc7a4
|
solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,389,882...17,394,619
Ensembl chr16:17,389,882...17,401,078
|
|
G
|
H |
SLC7A4
|
solute carrier family 7 member 4
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,028,718...21,032,561
Ensembl chr22:21,028,718...21,032,840
|
|
G
|
N |
Snap29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564
|
|
G
|
G |
SNAP29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,797,690...4,827,573
Ensembl chr19:4,797,725...4,830,251
|
|
G
|
P |
SNAP29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456
|
|
G
|
S |
Snap29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,377,284...2,402,049
Ensembl chrNW_004936619:2,376,815...2,401,967
|
|
G
|
D |
SNAP29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262
|
|
G
|
B |
SNAP29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931
|
|
G
|
C |
Snap29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665
|
|
G
|
R |
Snap29
|
synaptosome associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
|
|
G
|
M |
Snap29
|
synaptosomal-associated protein 29
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691
|
|
G
|
H |
SNAP29
|
synaptosome associated protein 29
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
|
|
G
|
R |
Snora77b
|
small nucleolar RNA, H/ACA box 77B
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
|
|
G
|
H |
SNORA77B
|
small nucleolar RNA, H/ACA box 77B
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,126,402...20,126,526
Ensembl chr22:20,126,402...20,126,526
|
|
G
|
N |
Tango2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:647,571...686,870
|
|
G
|
G |
TANGO2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361
|
|
G
|
P |
TANGO2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
|
|
G
|
S |
Tango2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,934,791...3,973,695
Ensembl chrNW_004936619:3,934,314...3,975,240
|
|
G
|
D |
TANGO2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164
|
|
G
|
B |
TANGO2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
|
|
G
|
C |
Tango2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
|
|
G
|
R |
Tango2
|
transport and golgi organization 2 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
|
|
G
|
M |
Tango2
|
transport and golgi organization 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967
|
|
G
|
H |
TANGO2
|
transport and golgi organization 2 homolog
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
|
|
G
|
N |
Tbx1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
|
|
G
|
G |
TBX1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244
|
|
G
|
P |
TBX1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
|
|
G
|
S |
Tbx1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
|
|
G
|
D |
TBX1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
|
|
G
|
B |
TBX1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,521,080...2,541,267
|
|
G
|
C |
Tbx1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
|
|
G
|
R |
Tbx1
|
T-box transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
|
|
G
|
M |
Tbx1
|
T-box 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
|
|
G
|
H |
TBX1
|
T-box transcription factor 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G
|
N |
Thap7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480
|
|
G
|
G |
THAP7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:4,935,872...4,938,181
Ensembl chr19:4,935,976...4,938,152
|
|
G
|
P |
THAP7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,591,412...50,593,778
Ensembl chr14:50,591,410...50,594,105
|
|
G
|
S |
Thap7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,525,152...2,528,242
|
|
G
|
D |
THAP7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,498,718...30,501,085
Ensembl chr26:30,498,785...30,525,906
|
|
G
|
B |
THAP7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:3,223,789...3,226,213
Ensembl chr22:19,713,740...19,716,068
|
|
G
|
C |
Thap7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:19,311,307...19,313,779
Ensembl chrNW_004955442:19,311,574...19,313,779
|
|
G
|
R |
Thap7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
|
|
G
|
M |
Thap7
|
THAP domain containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,345,823...17,349,975
Ensembl chr16:17,345,846...17,349,000
|
|
G
|
H |
THAP7
|
THAP domain containing 7
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,999,104...21,002,118
Ensembl chr22:20,999,104...21,002,196
|
|
G
|
H |
THAP7-AS1
|
THAP7 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:21,001,922...21,010,374
Ensembl chr22:21,001,536...21,010,342
|
|
G
|
N |
Trmt2a
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947
|
|
G
|
G |
TRMT2A
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257
|
|
G
|
P |
TRMT2A
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,489,889...51,494,204
Ensembl chr14:51,489,892...51,494,190
|
|
G
|
S |
Trmt2a
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:4,015,072...4,020,163
Ensembl chrNW_004936619:4,014,508...4,020,569
|
|
G
|
D |
TRMT2A
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,219,549...29,224,155
Ensembl chr26:29,219,812...29,226,233
|
|
G
|
B |
TRMT2A
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174
|
|
G
|
C |
Trmt2a
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850
|
|
G
|
R |
Trmt2a
|
tRNA methyltransferase 2 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
|
|
G
|
M |
Trmt2a
|
TRM2 tRNA methyltransferase 2A
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636
|
|
G
|
H |
TRMT2A
|
tRNA methyltransferase 2 homolog A
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,111,875...20,117,226
Ensembl chr22:20,111,875...20,117,392
|
|
G
|
G |
TSSK2
|
testis specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,617,030...6,618,932
Ensembl chr19:6,617,256...6,618,344
|
|
G
|
P |
TSSK2
|
testis specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
|
|
G
|
S |
Tssk2
|
testis specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,126,625...3,130,788
Ensembl chrNW_004936619:3,129,580...3,130,656
|
|
G
|
D |
TSSK2
|
testis specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
|
G
|
B |
TSSK2
|
testis specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568
|
|
G
|
C |
Tssk2
|
testis specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,846,491...18,847,485
|
|
G
|
R |
Tssk2
|
testis-specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,086,578...83,087,933
|
|
G
|
M |
Tssk2
|
testis-specific serine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888
|
|
G
|
H |
TSSK2
|
testis specific serine kinase 2
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622
|
|
G
|
N |
Txnrd2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154
|
|
G
|
G |
TXNRD2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674
|
|
G
|
P |
TXNRD2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
|
|
G
|
S |
Txnrd2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,789,940...3,847,286
Ensembl chrNW_004936619:3,791,418...3,847,626
|
|
G
|
D |
TXNRD2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206
|
|
G
|
B |
TXNRD2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497
|
|
G
|
C |
Txnrd2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
|
|
G
|
R |
Txnrd2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
|
|
G
|
M |
Txnrd2
|
thioredoxin reductase 2
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823
|
|
G
|
H |
TXNRD2
|
thioredoxin reductase 2
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
|
|
G
|
N |
Ufd1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097
|
|
G
|
G |
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:6,275,834...6,305,940
Ensembl chr19:6,275,844...6,308,035
|
|
G
|
P |
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
|
|
G
|
S |
Ufd1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:3,395,130...3,419,704
Ensembl chrNW_004936619:3,395,687...3,419,472
|
|
G
|
D |
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,739,062...29,763,315
Ensembl chr26:29,739,153...29,763,313
|
|
G
|
B |
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506
|
|
G
|
C |
Ufd1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366
|
|
G
|
R |
Ufd1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
|
|
G
|
M |
Ufd1
|
ubiquitin recognition factor in ER-associated degradation 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011
|
|
G
|
H |
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
|
|
G
|
H |
UFD1-AS1
|
UFD1 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:19,447,434...19,451,688
Ensembl chr22:19,447,763...19,450,105
|
|
G
|
H |
USP41P
|
ubiquitin specific peptidase 41, pseudogene
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,363,616...20,377,260
Ensembl chr22:20,363,621...20,377,251
|
|
G
|
R |
Wfdc21
|
WAP four-disulfide core domain 21
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
|
|
G
|
N |
Zdhhc8
|
zDHHC palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989
|
|
G
|
G |
ZDHHC8
|
zDHHC palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387
|
|
G
|
P |
ZDHHC8
|
zinc finger DHHC-type palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:51,503,074...51,517,577
Ensembl chr14:51,503,114...51,516,885
|
|
G
|
S |
Zdhhc8
|
zDHHC palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:4,032,665...4,048,079
Ensembl chrNW_004936619:4,032,659...4,048,155
|
|
G
|
D |
ZDHHC8
|
zinc finger DHHC-type palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:29,192,867...29,208,105
Ensembl chr26:29,193,682...29,208,105
|
|
G
|
B |
ZDHHC8
|
zDHHC palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:2,891,738...2,894,404
|
|
G
|
C |
Zdhhc8
|
zDHHC palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854
|
|
G
|
R |
Zdhhc8
|
zinc finger DHHC-type palmitoyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr11:96,259,383...96,273,588
Ensembl chr11:82,755,143...82,767,734
|
|
G
|
M |
Zdhhc8
|
zinc finger, DHHC domain containing 8
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000
|
|
G
|
H |
ZDHHC8
|
zinc finger DHHC-type palmitoyltransferase 8
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,131,804...20,148,007
Ensembl chr22:20,129,456...20,148,007
|
|
G
|
R |
Zim1
|
zinc finger, imprinted 1
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
|
|
G
|
N |
Znf74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004624945:356,794...367,202
|
|
G
|
G |
ZNF74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr19:5,302,966...5,318,084
|
|
G
|
P |
ZNF74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr14:50,840,500...50,869,945
Ensembl chr14:50,840,510...50,869,489
|
|
G
|
S |
Znf74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004936619:2,939,104...2,947,461
|
|
G
|
D |
ZNF74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr26:30,170,410...30,216,172
Ensembl chr26:30,204,293...30,215,776
|
|
G
|
B |
ZNF74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr22:19,079,769...19,094,835
|
|
G
|
C |
Znf74
|
zinc finger protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chrNW_004955442:18,969,061...18,982,193
|
|
G
|
H |
ZNF74
|
zinc finger protein 74
|
|
IAGP
|
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
|
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr22:20,394,151...20,408,455
Ensembl chr22:20,394,115...20,408,461
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|