U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC110121296, LOC111365161
+110 more
Copy number loss
See cases
GPathogenic
ASB4, ASNS
+61 more
Copy number loss
See cases
GPathogenic
DLX5, DLX6
+9 more
Copy number loss
See cases
GPathogenic
SDHAF3
(P2L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(R4W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(H5Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(R10W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(R21G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129998839, SDHAF3
(P25S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(T76A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(N112K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDHAF3
(M121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACHE, ACTL6B
+106 more
Deletion
not provided
GPathogenic
ASNS, DLX5
+4 more
Duplication
not provided
GUncertain significance
ASB4, ASNS
+34 more
Copy number loss
not provided
GPathogenic
DLX5, DLX6
+2 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
C7orf76, DLX5
+5 more
Deletion
not provided
GPathogenic
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
SDHAF3
Copy number loss
not provided
GUncertain significance
C7orf76, DLX5
+4 more
Copy number loss
Microcephaly
+1 more
GLikely pathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
CYP3A4, TAC1
+65 more
Copy number loss
Split hand-foot malformation 1
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
C7orf76, DLX5
+4 more
Copy number gain
See cases
GUncertain significance
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
Format
Items per page
Sort by
Choose Destination