ClinVar Miner

Variants from Department of Molecular and Human Genetics, Baylor College of Medicine

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
22 0 9 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic uncertain significance total
A2ML1 1 8 9
CLPP 3 0 3
KARS1 2 0 2
TBC1D24 2 0 2
ADCY1 1 0 1
ALOXE3 1 0 1
ALOXE3, GUCY2D 1 0 1
ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, DCBLD1, DSE, FAM162B, FAM184A, GOPC, GPRC6A, KPNA5, MAN1A1, MCM9, NUS1, PLN, RFX6, ROS1, RSPH4A, RWDD1, SLC35F1, TRAPPC3L, VGLL2, ZUP1 1 0 1
ASF1A, CEP85L, DCBLD1, FAM184A, GOPC, MCM9, NUS1, PLN, SLC35F1 1 0 1
ATF6 1 0 1
CALHM4, CALHM5, CALHM6, COL10A1, DCBLD1, DSE, FAM162B, FRK, GOPC, GPRC6A, HDAC2, HS3ST5, KPNA5, LAMA4, MARCKS, NT5DC1, NUS1, RFPL4B, RFX6, ROS1, RSPH4A, RWDD1, TRAPPC3L, TSPYL1, TSPYL4, VGLL2, ZUP1 1 0 1
ITGB6 1 0 1
KRT25 1 0 1
LOC101927919, NUS1 1 0 1
LOC101927919, NUS1, SLC35F1 1 0 1
LOC105377967, SLC35F1 0 1 1
MPLKIP 1 0 1
S1PR2 1 0 1
TGM1 1 0 1

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic uncertain significance total
Nonsyndromic otitis media 1 8 9
Autosomal recessive congenital ichthyosis 3 2 0 2
Deafness, autosomal recessive 86 2 0 2
Deafness, autosomal recessive 89 2 0 2
Perrault syndrome 3 2 0 2
Achromatopsia 7 1 0 1
Adolescent alopeciam dentogingival abnormalitites and intellectual disability 1 0 1
Autistic behavior; Delayed speech and language development; Absence seizures 1 0 1
Autosomal recessive congenital ichthyosis 1 1 0 1
Autosomal recessive hearing impairment with normal menstrual cycles 1 0 1
Deafness, autosomal recessive 44 1 0 1
Deafness, autosomal recessive 68 1 0 1
Delayed speech and language development; Microcephaly; Intellectual disability; tremors 1 0 1
Dysmorphic features; Delayed speech and language development; Muscular hypotonia 1 0 1
Global developmental delay; Dysmorphic features; Muscular hypotonia 0 1 1
Hypotrichosis 8 1 0 1
Intellectual disability; generalized epilepsy with atypical absence and tonic/myoclonic seizures; tremors 1 0 1
Intellectual disability; generalized epilepsy with atypical absence seizures; tremors 1 0 1
Trichothiodystrophy, nonphotosensitive 1 1 0 1

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