ClinVar Miner

Variants from Klinisk genetik och genomik Research, Gothenburg University

Location: Sweden  Primary collection method: research
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
4 17 17 0 0 38

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TCF12 0 3 0 3
CYP26B1 0 0 2 2
ERF 0 0 2 2
FGFR2 0 2 0 2
LOC129998021, TWIST1 0 2 0 2
PTCH1 0 0 2 2
SPECC1L, SPECC1L-ADORA2A 0 0 2 2
ACO2, ADSL, CHADL, CSDC2, DESI1, DNAJB7, EP300, L3MBTL2, MCHR1, MEI1, MRTFA, PHF5A, PMM1, POLR3H, RANGAP1, RBX1, SGSM3, SLC25A17, SNU13, ST13, TEF, TNRC6B, TOB2, XPNPEP3, XRCC6, ZC3H7B 0 1 0 1
ADAMTSL4 0 0 1 1
AXIN2 0 0 1 1
CMPK2, RNF144A, RSAD2, SOX11 0 1 0 1
EFNB1 0 1 0 1
FBN1 0 0 1 1
FERD3L, TWIST1 1 0 0 1
FOXP1 0 1 0 1
HDAC9, PRPS1L1, SNX13 0 1 0 1
HNMT, LRP1B, NXPH2, SPOPL 0 1 0 1
IGF1R 0 0 1 1
IL11RA 0 0 1 1
KAT6A 0 1 0 1
KIAA0586 0 1 0 1
KMT2D 1 0 0 1
MSX1 0 0 1 1
NSD2 0 1 0 1
POR 1 0 0 1
RUNX2 0 0 1 1
TGFBR1 0 0 1 1
TWIST1 1 0 0 1
WDR19 0 0 1 1
YY1 0 1 0 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance total
Craniosynostosis syndrome 0 2 17 19
Saethre-Chotzen syndrome 2 2 0 4
Syndromic craniosynostosis 0 4 0 4
Acrocephalosyndactyly type I 0 1 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 1
Craniofrontonasal syndrome 0 1 0 1
Crouzon syndrome 0 1 0 1
Gabriele de Vries syndrome 0 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 1
Joubert syndrome 23 0 1 0 1
Kabuki syndrome 1 1 0 0 1
Rauch-Steindl syndrome 0 1 0 1
TCF12-related craniosynostosis 0 1 0 1

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