U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
C1orf43, CFAP141
+35 more
Copy number loss
See cases
GPathogenic
CREB3L4, CRTC2
+26 more
Deletion
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
GLikely pathogenic
CREB3L4, CRTC2
+16 more
Copy number loss
See cases
GPathogenic
JTB
(R129Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JTB
(Q128R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JTB
(V114M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JTB
(R104H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
JTB
(I83S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JTB
(V80G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JTB
(L16F)
Single nucleotide variant
(missense variant)
not provided
GBenign
JTB
(P8L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAR, AQP10
+20 more
Duplication
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
CREB3L4, CRTC2
+6 more
Deletion
not provided
GPathogenic
DPM3, ECM1
+228 more
Duplication
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+3 more
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
JTB, CREB3L4
+7 more
Copy number loss
not provided
GUncertain significance
JTB, RPS27
+17 more
Copy number gain
not provided
GUncertain significance
JTB, NUP210L
+13 more
Copy number loss
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
GPathogenic
LCE2A, S100A2
+125 more
Copy number gain
not provided
GPathogenic
ADAR, PYGO2
+91 more
Copy number gain
not provided
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination