U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 434

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MICAL1, ZBTB24
Deletion
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Deletion
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Deletion
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(Q333*)
Single nucleotide variant
(nonsense)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
MICAL1, ZBTB24
Single nucleotide variant
(5 prime UTR variant +1 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Deletion
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(F198fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(D266fs)
Duplication
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Duplication
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Deletion
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(K117fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
(E220*)
Single nucleotide variant
(nonsense)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(splice acceptor variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely pathogenic
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(H276fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
MICAL1, ZBTB24
(P689L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GUncertain significance
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(H15fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
(G144fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(I76fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Deletion
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GBenign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(L425fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
(K304fs)
Deletion
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(splice donor variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely pathogenic
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(C324*)
Indel
(nonsense)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(H316R)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GUncertain significance
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
(D240V)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GUncertain significance
ZBTB24
(R295fs)
Duplication
(frameshift variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GPathogenic
ZBTB24
Deletion
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GBenign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
ZBTB24
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
GLikely benign
Format
Items per page
Sort by
Choose Destination