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7p12
7q32
AARS
ABCA1
ABCB11
ABCB4
ABCB7
ABCC8
ABHD12
ACE - Ins/Del-Polymorphismus
ACTA2
ACTC1
ACTG1
ACTN2
ACY1
ADAMTS2
ADAR
ADCK3
ADCY5
ADGRV1 (GPR98)
ADNP
ADRB2
ADRB3
ADSL
AFG3L
AFG3L2
AGPS
AGRP
AHI1
AKT1
AKT3
ALDH5A1
ALDH7A1
ALDOB
ALG13
ALMS1
ALS2
AMACR
AMT
ANG
ANGPTL3
ANGPTL4
ANK2
ANKH
ANKRD1
ANKRD11
ANO10
ANO3
ANO5
AOC1 (ABP1
AP1S2
APOA1
APOA5
APOB
APOC2
APOE
APP
APPL1
APTX
AR
ARFGEF2
ARHGEF10
ARHGEF15
ARHGEF9
ARID1A
ARID1B
ARL13B
ARSA
ARSE
ARX
ASAH1
ASCC1
ASPA
ASPM
ASXL1
ASXL3
ATL1
ATM
ATN1
ATP13A2
ATP1A2
ATP1A3
ATP6AP2
ATP7A
ATP7B
ATP8A2
ATP8B1
ATRX
ATXN1
ATXN2
ATXN3
ATXN7
AURKC
AUTS2
AZFa
AZFb
AZFc
B3GALT6
B4GALT7
BAG3
BDNF
BICD2
BLK
BMP1
BMP15 (GDF9B)
BMP6
BRAF
BRAT1
BRWD3
BSCL2
BSND
C10orf2
C10orf2/TWNK
C19orf12
C5orf42
C9OFR72
C9ORF72
CA8
CACNA1A
CACNA1C
CACNA1D
CACNA1G
CACNA1H
CACNA2D1
CACNB2
CACNB4
CALM1
CAPN3
CARTPT
CASK
CASQ2
CASR
CATSPER1
CAV3
CBL
CBS
CC2D2A
CCDC50
CCDC88C
CCND2
CD151
CDH23
CDK5RAP2
CDKL5
CDKN1C
CDON
CEL
CEP290
CEP41
CETP
CFTR
CHCHD10
CHD2
CHD7
CHD8
CHMP2B
CHRNA2
CHRNA4
CHRNB2
Chromosom 11
Chromosom 13
Chromosom 14
Chromosom 15
Chromosom 20
Chromosom 7
CHST14
CHSY1
CIB2
CISD2 (WFS2)
CLCN2
CLCN4
CLN3
CLN5
CLN6
CLP1
CLPP
CLRN1
CNTN2
CNTNAP2
COCH
COH1 (VPS13B)
COL11A1
COL11A2
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
COL4A6
COL5A1
COL5A2
COL9A1
COL9A2
COMP
CP
CPA1
CPA6
CPT2
CREBBP
CRH
CRTAP
CRYM
CSPP1
CSRP3
CSTB
CTC1
CTNNA3
CTRC
CUL4B
CYBB
CYP11B1
CYP17A1
CYP21A2
CYP2C9
CYP7B1
DAG1
DAO)
DARS2
DCAF17
DCTN1
DCX
DEPDC5
DES
DFNA5
DFNB31
DHCR7
DIAPH1
DIAPH2
DIS3L2
DLL1
DMD
DMPK
DMRT1
DNAJB2
DNAJB6
DNAJC5
DNM1
DNM2
DNMT1
DNMT3A
DOCK6
DOCK7
DOCK8
DPM2
DPP6
DPY19L2
DPYD
DRPLA
DRPLA (ATN1)
DSC2
DSG2
DSP
DTNA
DYNC1H1
DYRK1A
DYSF
EARS2
EBP
EDN3
EDNRB
EEF1A2
EEF2
EFHC1
EGR2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELANE
ELN
ELOVL4
ELOVL5
ELP4
EMD
EMX2
ENPP1
EP300
EPM2A
ESR1
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
EXOSC8
EXT1
EXT2
EYA1
EYA4
EZH2
F12
F8
F9
FA2H
Faktor 13 - p.(Val35Leu)
Faktor 5 (Cambridge) - p.(Arg334Thr)
Faktor 5 (HR2) - p.(His1327Arg)
Faktor V-Leiden: F5 - p.(Arg534Gln)
FAM126A
FARS2
FASN
FASTKD2
FBN1
FBXL4
FBXO7
FBXW11
FGD1
FGF10
FGF14
FGF8
FGFR1
FGFR2
FGFR3
FIGLA
FKBP10
FKBP14
FKRP
FKTN
FLNA
FLVCR1
FMR1
FOLR1
FOXG1
FOXI1
FOXL2
FOXP1
FOXP2
FOXRED1
FRAS1
FRRS1L
FSHR
FTH1
FTL
FUS
FXN
FXTAS
G6PD
GAA
GABBR2
GABRA1
GABRB3
GABRD
GABRG2
GAMT
GARS
GARS1
GAS1
GBA
GBA2
GCDH
GCH1
GCK
GCSH
GDAP1
GDF9
GDI1
GFAP
GFER
GFM1
GHRL
GJB1 (CX32)
GJB2
GJB2 (CX26)
GJB3
GJB6
GLA
GLDC
GLI2
GLI3
GLUL
GM2A
GMPPB
GNAL
GNAO1
GNPAT
GOSR2
GPC3
GPC6
GPD1L
GPHN
GPIHBP1
GPR98
GPSM2
GRIA3
GRID2
GRIN1
GRIN2A
GRIN2B
GRM1
GRN
HADH
HAMP
HARS
HCN1
HCN2
HCN4
HD (HTT)
HD-like 1 (PRNP)
HD-like 2 (JPH3)
HD-like 4 (TBP)
HDAC4
HDAC8
HDlike (JPH3
HEPACAM
HESX1
HEXA
HEXB
HFE
HJV (HFE2)
HNF1A
HNF1B
HNF4A
HNMT
HNRNPDL
HNRNPH1
HNRNPU
HOXD10
HPRT1
HRAS
HSD17B10
HSD17B4
HSD3B2
HSPB1
HSPB3
HSPB8
HSPD1
HTRA1
HTT
HUWE1
IBA57
IFITM5
IGF2
IGHMBP2
IL1RAPL1
IL1RN
IL36RN
ILDR1
INHA
INPP5E
INS
IQSEC2
ISPD
ITM2B
ITPR1
JAG1
JPH2
JPH3
JRK
JUP
KAL1
KCNA1
KCNA2
KCNB1
KCNC1
KCNC3
KCND3
KCNE1
KCNE2
KCNE3
KCNH2
KCNH5
KCNJ10
KCNJ11
KCNJ2
KCNJ5
KCNMA1
KCNQ1
KCNQ2
KCNQ3
KCNQ4
KCNT1
KCTD7
KDM5C
KDM6A
KIAA0196
KIAA0586
KIF1B
KIF1C
KIF5A
KIF7
KLF11
KLHL10
KMT2A
KMT2D (MLL2)
KMT2D(MLL2)
KPTN
KRAS
L1CAM
LARS2
LCAT
LCT (Promotor)
LDB3
LDLR
LDLRAP1
LEP
LEPR
LEPRE1
LGI1
LHCGR
LHX3
LHX4
LIPC
LIPG
LITAF
LMF1
LMNA
LMNB1
LPIN2
LPL
LRPPRC
LRRK2
LRSAM1
LYRM7
LZTR1
MAP2K1
MAP2K2
MAPT
MARS2
MATR3
MBD5
MC3R
MC4R
MCPH1
ME2
MECP2
MED12
MEF2C
MEFV
methylierungssensitive MLPA 11p15
methylierungssensitive MLPA 15q11.2
methylierungssensitive MLPA11p15
Methyltetrahydrofolat-Reduktase: MTHFR - p.(Ala222Val)
MFN2
MIB1
MICU1
MID1
MITF
MLC1
MLPA
MLPA 11p11.2
MLPA 11p13-14
MLPA 17p11.2
MLPA 17p13.3
MLPA 17q12
MLPA 1p36
MLPA 20p12.2
MLPA 22q11.2
MLPA 22q13.2
MLPA 4p16.3
MLPA 5p15
MLPA 7q11.23
MLPA 8q24
MLPA Xq28
MLPA22q11
MLPA7p21
MLPA8q24
MOCS1
MOCS2
MPV17
MPZ
MRE11A
MRPS16
MRPS22
MSX2
MT-ATP6
MT-ND1
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-RNR1
MT-TA
MT-TE
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TN
MT-TP
MT-TS1
MT-TS2
MT-TT
MT-TW
MTFMT
MTHFR
MTO1
MTOR
MTPAP
MTTP
MVK
MYBPC1
MYBPC3
MYH11
MYH14
MYH6
MYH7
MYH9
MYL2
MYL3
MYLK
MYLK2
MYO15A
MYO6
MYO7A
MYOT
MYOT (TTID)
NDE1
NDP
NDUFA1
NDUFA12
NDUFA2
NDUFA9
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF6. NDUFB3
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEFL
NEU1
NEUROD1
NFIX
NFU1
NHLRC1
NHS
NIPA1
NIPA2
NIPBL
NKX2-1
NLGN3
NLGN4X
NLRC4
NLRP12
NLRP3 (CIAS1)
NOBOX
NOD2
NOL3
NOTCH2
NOTCH3
NPC1
NPC2
NPHP1
NR0B2
NR1H4
NR5A1
NRAS
NRXN1
NSD1
NSDHL
NTRK2
NUBPL
NUDC
OFD1
OPA1
OPHN1
OTOA
OTOF
p.Cys282Tyr
p.His63Asp
PAFAH1B1
PAH
PAK3
PANK2
PARK2 (PRKN)
PARK7 (DJ1)
PAX2
PAX3
PAX4
PC
PCDH15
PCDH19
PCSK1
PCSK9
PDE6D
PDHA1
PDHB
PDHX
PDP1
PDSS1
PDSS2
PDX1
PDYN
PDZD7
PEX5
PEX7
PGK1
PHF6
PHGDH
PIGA
PIGN
PIGT
PIGV
PIK3AP1
PIK3CA
PIK3R2
PIK3R5
PINK1
PKD1
PKD2
PKHD1
PKP2
PLA2G6
PLCB1
PLCZ1
PLEC
PLEKHG5
PLN
PLOD1
PLOD2
PLP1
PMP22
PNKD
PNKP
PNLIP
PNPLA6
PNPO
PNPT1
POC1B
POLG
POLR1C
POLR1D
POLR3A
POLR3B
POMC
POMGNT1
POMT1
POMT2
POU1F1
POU3F4
PPARG
PPIB
PPP1CB
PPT1
PPT2
PQBP1
PRDM16
PRICKLE1
PRICKLE2
PRKAG2
PRKCG
PRKRA
PRNP
PROC
PROK2
PROKR2
PROP1
PROS1
Prothrombin-Gen: F2 - c.*97G>A in 3’UTR
PRPS1
PRRT2
PRSS1
PRX
PSEN1
PSEN2
PSMB8
PSTPIP1
PTCD1
PTCH1
PTCHD1
PTEN
PTPN11
PUS1
QARS
QDPR
RAB39B
RAB7A
RAD21
RAF1
RAI1
RANBP2
RANGAP1
RARS2
RASA1
RASA2
RBFOX1
RBFOX3
RBM20
REEP1
RELN
Repeatanalyse: FMR1
RET
RIN2
RIT1
RMND1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNF135
RNF216
ROGDI
RPGRIP1L
RPS6KA3 (RSK2)
RRAS
RRM2B
RTN2
RYR2
RYR3
SACS
SALL1
SALL4
SAMHD1
SARS2
SCA 1
SCA 17
SCA 2
SCA 3
SCA 6
SCA 7
SCA1
SCA2
SCARB2
SCN1A
SCN1B
SCN2A
SCN4B
SCN5A
SCN8A
SCN9A
SCO1
SCO2
SDC3
SDHA
SDHAF1
SDHAF2
SDHB
SDHC
SDHD
SEMA3E (Exon 17)
SEPT12
SERAC1
SERPINA1 (PI1)
SERPINC1
SERPINE1: PAI1 - 4G/5G-Polymorphismus
SERPINF1
SERPING1 (C1NH)
SERPINH1
SETD2
SETX
SEZ6
SGCA
SGCB
SGCD
SGCE
SGCG
SHANK2
SHANK3
SHH
SHOC2
SHOX
SIGMAR1
SIK1
SIL1
SIM1
SIX1
SIX3
SIX5
SLC13A5
SLC16A2
SLC19A2
SLC19A3
SLC1A3
SLC25A12
SLC25A19
SLC25A20
SLC25A22
SLC25A3
SLC25A4
SLC26A2
SLC26A4
SLC2A1
SLC33A1
SLC35A2
SLC39A13
SLC40A1
SLC5A7
SLC6A1
SLC6A3
SLC6A8
SLC9A6
SMAD2
SMAD3
SMARCA2
SMARCA4
SMARCB1
SMARCE1
SMC1A
SMC3
SMN1
SMS
SNAI2
SNCA
SNTA1
SNX14
SOD1
SOHLH1
SOHLH2
SOS1
SOS2
SOX10
SOX11
SP7
SPAST
SPATA16
SPG11
SPG7
SPINK1
SPR
SPRED1
SPTAN1
SPTBN2
SQSTM1
SRPX2
SRY
ST3GAL3
ST3GAL5
STAG3
STAR
STAT1
STAT3
STRADA
STRC
STS
STUB1
STX1B
STXBP1
SUCLA2
SUCLG1
SURF1
SYCP3
SYN1
SYNE1
SYNGAP1
SYNJ1
SYP
SYT14
SZT2
TACO1
TAF1
TARDBP
TARS2
TAZ
TBC1D24
TBC1D7
TBK1
TBP
TBX1
TBX5
TCAP
TCF4
TCOF1
TCTN1
TCTN2
TCTN3
TDP1
TECTA
TEX11
TEX14
TFR2
TGFB2
TGFB3
TGFBR1
TGFBR2
TGIF1
TGM6
TH
THAP1
TIMM8A
TJP2
TK2
TMC1
TMEM138
TMEM173
TMEM216
TMEM231
TMEM237
TMEM240
TMEM38B
TMEM43
TMEM67
TMEM70
TMPRSS3
TNFRSF1A
TNK2
TNNC1
TNNI3
TNNT2
TNPO3
TOR1A
TPK1
TPM1
TPP1
TPRN
TRDN
TREM2
TREX1
TRIM32
TRIP11
TRMU
TRPC3
TRPM4
TRPS1
TRPV4
TRPV6
TSC1
TSC2
TSFM
TTBK2
TTC19
TTC21B
TTR
TUBA1A
TUBB2A
TUBB2B
TUBB4A
TUFM
TWIST1
TYK2
TYMP
UBA1
UBE2A
UBE3A
UBQLN2
UBR5
UCP1
UCP3
UGT1A1
UGT1A1*1
UGT1A1*28
UGT1A1*6
UMOD
UQCRB
UQCRC2
UQCRQ
USH1C
USH1G
USH2A
USP9Y
VAMP1
VAPB
VARS2
VCL
VCP
VLDLR
VPS13A
VPS13B
VPS35
VRK1
VWF
WDR45
WDR62
WFS1
WHRN (DFNB31)
WNT1
WNT5A
WWOX
XK
YARS
YARS2
ZEB2
ZFYVE26
ZFYVE27
ZIC2
ZNF423
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