ClinVar Miner

Variants from Institute of Human Genetics,University of Goettingen

Location: Germany — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
15 19 26 3 0 63

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2D 2 2 1 0 5
CHD7 2 2 0 0 4
HDAC8 0 2 0 0 2
MAP2K2 0 1 1 0 2
ABHD12, ACSS1, ADAM33, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf194, C20orf202, C20orf27, C20orf78, C20orf96, CD93, CDC25B, CDS2, CENPB, CFAP61, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DSTN, DTD1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, INSM1, ISM1, ITPA, JAG1, KAT14, KIF16B, KIZ, LAMP5, LINC01597, LRRN4, LZTS3, MACROD2, MAVS, MCM8, MGME1, MIR103A2, MIR1292, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PAX1, PCED1A, PCNA, PCSK2, PDYN, PET117, PLCB1, PLCB4, POLR3F, PRND, PRNP, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RRBP1, RSPO4, SCP2D1, SCRT2, SDCBP2, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC23A2, SLC24A3, SLC4A11, SLC52A3, SLX4IP, SMOX, SNAP25, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TRIB3, TRMT6, UBOX5, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF337, ZNF343 1 0 0 0 1
ABHD8, ANKLE1, ANO8, AP1M1, BABAM1, BST2, C19orf44, CALR3, CHERP, CIB3, COLGALT1, CPAMD8, CYP4F11, CYP4F2, DDA1, EPS15L1, F2RL3, FAM32A, FCHO1, GTPBP3, HAUS8, HSH2D, KLF2, LOC100507551, MAP1S, MED26, MRPL34, MVB12A, MYO9B, NIBAN3, NR2F6, NWD1, NXNL1, OCEL1, OR10H4, PGLS, PLVAP, RAB8A, SIN3B, SLC27A1, SLC35E1, SMIM7, TMEM221, TMEM38A, TPM4, UNC13A, USE1, USHBP1 1 0 0 0 1
ACVRL1 0 1 0 0 1
AKR1A1, MMACHC, PRDX1, TESK2 0 0 1 0 1
ANK2 0 0 1 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 1
BAG3 0 1 0 0 1
C2orf72, CAB39, DNER, FBXO36, GPR55, HTR2B, ITM2C, PSMD1, SLC16A14, SP100, SP110, SP140, SP140L, SPATA3, TRIP12 0 0 1 0 1
C8orf17, TRAPPC9 0 0 1 0 1
CASK 0 1 0 0 1
CATSPER2, CKMT1A, CKMT1B, PPIP5K1, STRC 0 0 1 0 1
CBL 0 0 1 0 1
CCDC125, CCNB1, CDK7, CENPH, GTF2H2, GTF2H2C, MARVELD2, MRPS36, NAIP, OCLN, RAD17, SERF1A, SERF1B, SLC30A5, SMN1, SMN2, TAF9 0 0 1 0 1
CENPJ, RNF17 1 0 0 0 1
CEP85L, PLN 0 0 1 0 1
CHMP1A, CPNE7, DPEP1, SPATA33 0 0 1 0 1
COL6A3, ESPNL, KLHL30, LRRFIP1, MLPH, PRLH, RAB17, RAMP1, RBM44, SCLY, UBE2F 0 0 1 0 1
CPPED1, SHISA9, SNX29 0 0 1 0 1
DLG2 0 0 1 0 1
DMRT1, DMRT2, DMRT3, KANK1 0 0 1 0 1
DNMT3A 1 0 0 0 1
DONSON 0 1 0 0 1
DYNC1H1 0 0 1 0 1
ENG 1 0 0 0 1
EYA2, ZMYND8 0 0 1 0 1
EZH2 0 1 0 0 1
GABRA1 0 0 1 0 1
GPC5 0 0 1 0 1
GTF2H2C, MARVELD2, NAIP, OCLN, RAD17, SERF1A, SERF1B, SMN1, SMN2 0 0 0 1 1
HAO1, TMX4 0 0 1 0 1
HEPACAM 0 1 0 0 1
KCNH2 0 1 0 0 1
KDM4B 0 0 1 0 1
KIF5A 0 1 0 0 1
MAPK10 0 0 0 1 1
MED13L 1 0 0 0 1
MRGPRX3, MRGPRX4, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, TPH1 0 0 0 1 1
MSH2 0 0 1 0 1
MSH6 1 0 0 0 1
MYBPC3 0 1 0 0 1
OFD1 0 1 0 0 1
PAX6 0 0 1 0 1
PEX6 0 1 0 0 1
PMP22 1 0 0 0 1
PRX 1 0 0 0 1
RELN 0 0 1 0 1
SH3TC2 1 0 0 0 1
SPTAN1 0 1 0 0 1
TRPM4 0 0 1 0 1
WDR62 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 4 0 8 0 12
not specified 0 0 7 3 10
Kabuki syndrome 1 2 2 1 0 5
CHARGE association 2 2 0 0 4
Cardiofaciocutaneous syndrome 4 0 1 1 0 2
Cornelia de Lange syndrome 5 0 2 0 0 2
Cardiac arrhythmia, ankyrin B-related 0 0 1 0 1
Charcot-Marie-Tooth disease and deafness; Dejerine-Sottas disease 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2O 0 0 1 0 1
Charcot-Marie-Tooth disease, type 4C 1 0 0 0 1
Dejerine-Sottas disease 1 0 0 0 1
Dilated cardiomyopathy 1HH 0 1 0 0 1
Early infantile epileptic encephalopathy 5 0 1 0 0 1
Familial hypertrophic cardiomyopathy 4 0 1 0 0 1
Heimler syndrome 2 0 1 0 0 1
Hereditary hemorrhagic telangiectasia type 2 0 1 0 0 1
Hereditary nonpolyposis colorectal cancer type 5 1 0 0 0 1
Lissencephaly 2 0 0 1 0 1
Long QT syndrome 2 0 1 0 0 1
Lynch syndrome I 0 0 1 0 1
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 0 1 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2a; Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 0 1 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0 1 0 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 0 1 0 1
Oral-facial-digital syndrome 0 1 0 0 1
Osler hemorrhagic telangiectasia syndrome 1 0 0 0 1
Primary autosomal recessive microcephaly 2 0 0 1 0 1
Progressive familial heart block type 1B 0 0 1 0 1
Seckel syndrome 5 1 0 0 0 1
Sensorineural hearing loss; Seizures; Intellectual disability 0 0 1 0 1
Spastic paraplegia 10 0 1 0 0 1
Tatton-Brown-rahman syndrome 1 0 0 0 1
Weaver syndrome 0 1 0 0 1
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 0 0 1 0 1

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