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Items: 1 to 100 of 538

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
AARS2, ABCC10
+435 more
Copy number loss
See cases
GPathogenic
LOC123620117, LOC123620118
+324 more
Copy number loss
See cases
GPathogenic
ADGRF1, ADGRF2
+78 more
Copy number gain
See cases
GLikely pathogenic
CLIC5, LOC109611589
+22 more
Copy number gain
See cases
GUncertain significance
LOC109611593, RUNX2
+1 more
Single nucleotide variant
(5 prime UTR variant +2 more)
Cleidocranial dysostosis
GBenign
LOC109611593, RUNX2
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC109611593, RUNX2
+1 more
Single nucleotide variant
(intron variant)
Cleidocranial dysostosis
GBenign
RUNX2, SUPT3H
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
RUNX2, SUPT3H
Single nucleotide variant
(5 prime UTR variant +2 more)
Cleidocranial dysostosis
GBenign
RUNX2, SUPT3H
Single nucleotide variant
(5 prime UTR variant +2 more)
Cleidocranial dysostosis
GUncertain significance
RUNX2, SUPT3H
Deletion
(5 prime UTR variant +2 more)
Cleidocranial dysostosis
+1 more
GBenign/Likely benign
RUNX2, SUPT3H
(M1I)
Single nucleotide variant
(missense variant +3 more)
not provided
GPathogenic
RUNX2, SUPT3H
(S5T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RUNX2, SUPT3H
(T11fs)
Duplication
(frameshift variant +2 more)
Cleidocranial dysostosis
GPathogenic
RUNX2, SUPT3H
(P12S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RUNX2, SUPT3H
(Q15K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RUNX2, SUPT3H
Single nucleotide variant
(synonymous variant +2 more)
Cleidocranial dysostosis
GUncertain significance
RUNX2, SUPT3H
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RUNX2, SUPT3H
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RUNX2, SUPT3H
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RUNX2, SUPT3H
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC109611589, LOC129996578
+2 more
Duplication
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
GPathogenic
RUNX2, SUPT3H
Deletion
(intron variant)
not provided
GUncertain significance
RUNX2
Single nucleotide variant
(intron variant)
not provided
GBenign
RUNX2
Single nucleotide variant
(intron variant)
not provided
GBenign
RUNX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RUNX2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RUNX2
(I3F)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RUNX2
(P4L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RUNX2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely pathogenic
RUNX2
(P7L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RUNX2
(R25Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(R26P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(S17fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
RUNX2
(S17fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(P29T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RUNX2
(P16A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(S19C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(L20V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(Q21L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(G37C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX2
(V42L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RUNX2
(Q59fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
RUNX2
Duplication
(inframe_insertion)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
LOC109611589, RUNX2
Deletion
(inframe_deletion)
not specified
GLikely benign
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
Cleidocranial dysostosis
+1 more
GUncertain significance
LOC109611589, RUNX2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q36* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q51K +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109611589, RUNX2
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109611589, RUNX2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
LOC109611589, RUNX2
Deletion
(inframe_indel +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC109611589, RUNX2
Duplication
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
LOC109611589, RUNX2
(Q55* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q44fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
LOC109611589, RUNX2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q57del +1 more)
Microsatellite
(inframe deletion +1 more)
RUNX2-related disorder
GLikely benign
LOC109611589, RUNX2
Deletion
(inframe_deletion)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q45R +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
+1 more
GConflicting classifications of pathogenicity
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109611589, RUNX2
Duplication
(inframe_insertion)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q62* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109611589, RUNX2
(Q49* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
(E72fs +1 more)
Indel
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
LOC109611589, RUNX2
(Q50* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
(Q50R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC109611589, RUNX2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LOC109611589, RUNX2
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q66* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
(Q53* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
(Q53fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC109611589, RUNX2
(E58fs +1 more)
Insertion
(frameshift variant)
not provided
GPathogenic
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
LOC109611589, RUNX2
(Q54fs +1 more)
Indel
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
LOC109611589, RUNX2
(Q55* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC109611589, RUNX2
(Q56H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC109611589, RUNX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC109611589, RUNX2
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LOC109611589, RUNX2
(Q57* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
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