MVZ für Humangenetik Regensburg
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combination
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Numeric
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Numeric
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Numeric
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126 entries on 2 pages. Showing entries 1 - 100.
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Symbol
HGNC ID
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
ABCC8
HGNC:59
ATP binding cassette subfamily C member 8
11
p15.1
1
9
8
2024-07-29
HHF1, LIH, PNDM3, T2D, TNDM2
ABCC9
HGNC:60
ATP binding cassette subfamily C member 9
12
p12.1
1
1
1
2023-10-02
CMD1O
ACTN2
HGNC:164
actinin alpha 2
1
q43
1
1
1
2024-09-09
CMD1AA
ADA2
HGNC:1839
adenosine deaminase 2
22
q11.1
1
4
4
2023-06-28
SNDNS, VAIHS
AEBP1
HGNC:303
AE binding protein 1
7
p13
1
1
1
2024-01-22
EDSCL2
AIP
HGNC:358
aryl hydrocarbon receptor interacting protein
11
q13.2
1
7
7
2023-06-27
PITA1
ALK
HGNC:427
ALK receptor tyrosine kinase
2
p23.2-p23.1
1
3
3
2024-09-09
NBLST3
ALPK3
HGNC:17574
alpha kinase 3
15
q25.3
1
1
1
2024-09-09
CMH27
ANK2
HGNC:493
ankyrin 2
4
q25-q26
1
1
1
2024-09-09
LQT4
APC
HGNC:583
APC regulator of WNT signaling pathway
5
q22.2
1
3
3
2023-09-18
DESMD, FAP1, GAPPS
APOB
HGNC:603
apolipoprotein B
2
p24.1
1
6
6
2024-09-09
FHBL1, FHCL2
APPL1
HGNC:24035
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
3
p14.3
1
4
4
2023-10-26
MODY14
ATM
HGNC:795
ATM serine/threonine kinase
11
q22.3
1
16
14
2024-06-03
AT, BREAST CANCER
ATP7B
HGNC:870
ATPase copper transporting beta
13
q14.3
1
18
18
2024-09-12
WD
ATXN3
HGNC:7106
ataxin 3
14
q21
1
-
-
N/A
MJD
BAG3
HGNC:939
BAG cochaperone 3
10
q26.11
1
1
1
2024-09-09
CMD1HH
BAP1
HGNC:950
BRCA1 associated protein 1
3
p21.1
1
1
1
2020-03-03
KURIS, TPDS, UVM2
BARD1
HGNC:952
BRCA1 associated RING domain 1
2
q35
1
2
2
2024-09-09
BREAST CANCER
BLK
HGNC:1057
BLK proto-oncogene, Src family tyrosine kinase
8
p23.1
1
7
7
2024-09-12
MODY 11
BLM
HGNC:1058
BLM RecQ like helicase
15
q26.1
1
7
7
2024-09-09
BLM
BMPR1A
HGNC:1076
bone morphogenetic protein receptor type 1A
10
q23.2
1
1
1
2024-07-29
HMPS2
BRAF
HGNC:1097
B-Raf proto-oncogene, serine/threonine kinase
7
q34
1
1
1
2023-06-27
CFC1, LPRD3, NS7
BRCA1
HGNC:1100
BRCA1, DNA repair associated
17
q21.31
1
28
28
2024-05-13
BROVCA1, FANCS, PNCA4
BRCA2
HGNC:1101
BRCA2, DNA repair associated
13
q13.1
1
43
43
2024-06-03
BREAST CANCER, BROVCA2, FANCD1, GLM3, MDB, PCNA2, PROSTATE CANCER, WT1
BRIP1
HGNC:20473
BRCA1 interacting protein C-terminal helicase 1
17
q23.2
1
10
10
2023-06-27
BREAST CANCER, FANCJ
BUB1B
HGNC:1149
BUB1 mitotic checkpoint serine/threonine kinase B
15
q15.1
1
3
3
2024-09-09
PCS
CACNA1C
HGNC:1390
calcium voltage-gated channel subunit alpha1 C
12
p13.33
1
1
1
2024-09-09
-
CACNA2D1
HGNC:1399
calcium voltage-gated channel auxiliary subunit alpha2delta 1
7
q21.11
1
1
1
2024-09-09
DEE110
CASQ2
HGNC:1513
calsequestrin 2
1
p13.1
1
1
1
2024-09-09
CPVT2
CDH1
HGNC:1748
cadherin 1
16
q22.1
1
11
11
2024-09-09
BCDS1, BREAST CANCER, DGLBC, PROSTATE CANCER
CDK4
HGNC:1773
cyclin dependent kinase 4
12
q14.1
1
1
1
2023-06-28
CMM3
CDKN2A
HGNC:1787
cyclin dependent kinase inhibitor 2A
9
p21.3
2
1
1
2023-06-28
CMM2, MELANOMA-ASTROCYTOMA, MELANOMA-PANCREATIC
CEL
HGNC:1848
carboxyl ester lipase
9
q34.13
1
1
1
2020-10-08
MODY8
CFTR
HGNC:1884
cystic fibrosis transmembrane conductance regulator
7
q31.2
1
8
8
2024-09-12
BESC1, CBAVD, CF, PCTT
CHEK2
HGNC:16627
checkpoint kinase 2
22
q12.1
1
15
15
2024-09-09
BREAST CANCER, CRC, LFS2, PROSTATE CANCER
COL1A1
HGNC:2197
collagen type I alpha 1 chain
17
q21.33
1
2
2
2024-09-09
EDSARTH1
COL3A1
HGNC:2201
collagen type III alpha 1 chain
2
q32.2
1
1
1
2023-06-29
EDSVASC
COL5A2
HGNC:2210
collagen type V alpha 2 chain
2
q32.2
1
1
1
2022-06-29
EDSCL2
CPA1
HGNC:2296
carboxypeptidase A1
7
q32.2
1
2
2
2023-06-29
-
CYP21A2
HGNC:2600
cytochrome P450 family 21 subfamily A member 2
6
p21.3
1
-
-
N/A
CAH1
DES
HGNC:2770
desmin
2
q35
1
1
1
2023-06-29
CMD1I
DIS3L2
HGNC:28648
DIS3 like 3'-5' exoribonuclease 2
2
q37.1
1
1
1
2023-06-29
PRLMNS
DSG2
HGNC:3049
desmoglein 2
18
q12.1
1
2
2
2023-06-29
ARVD11
ERCC3
HGNC:3435
ERCC excision repair 3, TFIIH core complex helicase subunit
2
q14.3
1
2
2
2017-05-15
TTD2, XPB
EYA4
HGNC:3522
EYA transcriptional coactivator and phosphatase 4
6
q23.2
1
1
1
2023-06-29
CMD1J
FANCA
HGNC:3582
FA complementation group A
16
q24.3
1
1
1
2024-06-03
FANCA
FANCM
HGNC:23168
FA complementation group M
14
q21.2
1
1
1
2018-12-07
POF15
FBN1
HGNC:3603
fibrillin 1
15
q21.1
1
8
8
2024-09-09
ACMICD, ECTOL1, GPHYSD2, MASSS, MFLS, MFS1, SSKS, WMS2
FGFR3
HGNC:3690
fibroblast growth factor receptor 3
4
p16.3
1
-
-
N/A
ACH, HCH
FH
HGNC:3700
fumarate hydratase
1
q43
1
3
3
2024-09-12
HLRCC
GCK
HGNC:4195
glucokinase
7
p15.3-p15.1
1
11
11
2024-09-12
HHF3, MODY2, PNDM1, T2D
GJB2
HGNC:4284
gap junction protein beta 2
13
q11-q12
1
-
-
N/A
DFNB1A
GLA
HGNC:4296
galactosidase alpha
X
q21.3-q22
1
-
-
N/A
FD
HBA1
HGNC:4823
hemoglobin subunit alpha 1
16
p13.3
1
-
-
2016-07-11
a-THAL
HBA2
HGNC:4824
hemoglobin subunit alpha 2
16
p13.3
1
2
2
2024-03-28
a-THAL
HBB
HGNC:4827
hemoglobin subunit beta
11
p15.5
1
-
-
N/A
b-THAL
HNF1A
HGNC:11621
HNF1 homeobox A
12
q24.31
1
28
28
2024-05-13
MODY3, RCC, T1D, T1D20, T2D
HNF1B
HGNC:11630
HNF1 homeobox B
17
q12
1
3
3
2024-09-09
MODY5, RCC
HNF4A
HGNC:5024
hepatocyte nuclear factor 4 alpha
20
q13.12
1
7
7
2024-05-07
FRTS4, MODY1, T2D
IL36RN
HGNC:15561
interleukin 36 receptor antagonist
2
q14.1
1
2
2
2023-06-29
PSORS14
INS
HGNC:6081
insulin
11
p15.5
1
1
1
2023-06-29
MODY10, WTSN, XPB, YAOS
KCNE1
HGNC:6240
potassium voltage-gated channel subfamily E regulatory subunit 1
21
q22.12
1
1
1
2023-06-29
LQT5
KCNH2
HGNC:6251
potassium voltage-gated channel subfamily H member 2
7
q36.1
1
2
2
2023-06-30
-
KCNJ11
HGNC:6257
potassium inwardly rectifying channel subfamily J member 11
11
p15.1
1
1
1
2024-09-12
MODY13
KCNJ5
HGNC:6266
potassium inwardly rectifying channel subfamily J member 5
11
q24.3
1
1
1
2023-06-30
LQT13
KCNQ1
HGNC:6294
potassium voltage-gated channel subfamily Q member 1
11
p15.5-p15.4
1
1
1
2023-06-27
JLNS1, LQT1, SHORT QT SYNDROME
KIF1B
HGNC:16636
kinesin family member 1B
1
p36.22
1
1
1
2023-07-17
CMT2A1, NBLST1
KIT
HGNC:6342
KIT proto-oncogene, receptor tyrosine kinase
4
q12
1
1
1
2023-07-17
GIST, MASTC, PBT
KLF11
HGNC:11811
KLF transcription factor 11
2
p25.1
1
4
4
2023-10-02
MODY7
KRAS
HGNC:6407
KRAS proto-oncogene, GTPase
12
p12.1
2
1
1
2024-05-13
NS3
LDLR
HGNC:6547
low density lipoprotein receptor
19
p13.2
1
7
6
2024-09-09
FHCL1
LPIN2
HGNC:14450
lipin 2
18
p11.31
1
5
5
2024-09-09
MJDS
MECP2
HGNC:6990
methyl-CpG binding protein 2
X
q28
1
5
5
2024-05-07
RTT
MEFV
HGNC:6998
Mediterranean fever
16
p13.3
1
24
24
2024-05-13
AFND, FMF, FMFAD
MET
HGNC:7029
MET proto-oncogene, receptor tyrosine kinase
7
q31
1
7
7
2023-10-02
HPRCC
MLH1
HGNC:7127
mutL homolog 1
3
p22.3
1
25
25
2024-09-09
LYNCH2, MMRCS1, MRTES
MSH2
HGNC:7325
mutS homolog 2
2
p21
1
9
8
2024-05-07
LYNCH1, MMRCS2, MRTES
MSH6
HGNC:7329
mutS homolog 6
2
p16
1
18
17
2024-09-09
ENDOMETRIAL CANCER, LYNCH5, MMRCS3
MUTYH
HGNC:7527
mutY DNA glycosylase
1
p34.1
1
3
3
2023-07-17
FAP2
MYBPC3
HGNC:7551
myosin binding protein C3
11
p11.2
1
3
3
2024-09-09
CMH4, LVNC10
NBN
HGNC:7652
nibrin
8
q21.3
1
5
5
2023-07-17
NBS
NEUROD1
HGNC:7762
neuronal differentiation 1
2
q31.3
1
2
2
2023-10-02
MODY6, T2D
NF1
HGNC:7765
neurofibromin 1
17
q11.2
2
24
22
2023-11-24
FSNF, JMML, NF1, NFNS, WTSN
NLRC4
HGNC:16412
NLR family CARD domain containing 4
2
p22.3
1
1
1
2023-07-17
AIFEC, FCAS4
NLRP12
HGNC:22938
NLR family pyrin domain containing 12
19
q13.42
1
10
10
2023-10-02
FCAS2
NLRP3
HGNC:16400
NLR family pyrin domain containing 3
1
q44
1
1
1
2023-06-16
CINCA, DFNA34, FCAS1, KEFH, MWS, YAOS
NOD2
HGNC:5331
nucleotide binding oligomerization domain containing 2
16
q12.1
1
7
7
2023-10-02
BLAUS, IBD1, YAOS
NTHL1
HGNC:8028
nth like DNA glycosylase 1
16
p13.3
1
1
1
2023-07-17
-
PALB2
HGNC:26144
partner and localizer of BRCA2
16
p12.2
1
7
7
2023-07-18
BREAST CANCER, FANCN, PNCA3
PAX4
HGNC:8618
paired box 4
7
q32.1
1
4
4
2023-07-18
KPD, MODY 9, T2D
PDGFRA
HGNC:8803
platelet derived growth factor receptor alpha
4
q12
1
3
3
2023-10-02
GISTPS
PDX1
HGNC:6107
pancreatic and duodenal homeobox 1
13
q12.2
1
4
4
2023-10-02
MODY4
PMS2
HGNC:9122
PMS1 homolog 2, mismatch repair system component
7
p22.1
1
8
8
2024-09-09
LYNCH4, MMRCS4
POLD1
HGNC:9175
DNA polymerase delta 1, catalytic subunit
19
q13.3
1
1
1
2023-06-27
CRCS10, MDPL
POLE
HGNC:9177
DNA polymerase epsilon, catalytic subunit
12
q24.33
1
1
1
2024-06-03
CRCS12
PROC
HGNC:9451
protein C, inactivator of coagulation factors Va and VIIIa
2
q13-q14
1
16
14
2024-05-07
THPH3, THPH4
PROS1
HGNC:9456
protein S (alpha)
3
q11.1
1
10
9
2024-05-07
THPH5, THPH6
PRSS1
HGNC:9475
protease, serine 1
7
q34
1
4
4
2024-05-07
PCTT
PSMB8
HGNC:9545
proteasome 20S subunit beta 8
6
p21.32
1
3
3
2023-10-02
-
PSTPIP1
HGNC:9580
proline-serine-threonine phosphatase interacting protein 1
15
q24.3
1
2
2
2023-06-28
PAPAS
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