ClinVar Miner

Variants from Shaikh Laboratory, University of Colorado

Location: United States — 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
1 21 0 0 0 22

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic total
KMT2D 0 12 12
KDM6A 0 2 2
RALGAPB 0 2 2
ACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, LOC112806037, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, SNORD132, SOCAR, TMEM87B, ZC3H6, ZC3H8 0 1 1
CARS2 1 0 1
CENPT, THAP11 0 1 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 1
TMEM87B 0 1 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic total
Kabuki syndrome 1 0 12 12
Kabuki syndrome 2 0 4 4
not provided 0 2 2
Alpers encephalopathy 1 0 1
Mental retardation 3, X-linked 0 1 1
Septo-optic dysplasia sequence 0 1 1
Septo-optic dysplasia sequence; Tubulinopathies 0 1 1

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