U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ANP32E, APH1A
+35 more
Copy number loss
See cases
GUncertain significance
ADAMTSL4, ADAMTSL4-AS1
+37 more
Copy number gain
See cases
GLikely benign
APH1A
(R241G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APH1A
(R186W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APH1A
(R109G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
APH1A
Microsatellite
(splice acceptor variant +1 more)
APH1A-related disorder
GLikely benign
APH1A
(V85M)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
APH1A
(R66W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
APH1A
(D61N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
APH1A
(V51M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
APH1A
(A49S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
APH1A, C1orf54
(L22F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ANP32E, APH1A
+25 more
Copy number loss
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
ANP32E, APH1A
+9 more
Duplication
not provided
GUncertain significance
SELENBP1, SEMA4A
+228 more
Duplication
Kostmann syndrome
+3 more
GUncertain significance
ANP32E, APH1A
+9 more
Duplication
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACP6, ADAMTSL4
+103 more
Copy number gain
See cases
GPathogenic
CIART, LCE2A
+154 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination