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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
UFSP1, VGF
+299 more
Copy number gain
See cases
GPathogenic
ACTL6B, AGFG2
+229 more
Copy number loss
Multiple congenital anomalies/dysmorphic syndrome
GPathogenic
LOC129998966, LOC129998967
+309 more
Copy number loss
See cases
GPathogenic
AP4M1, ARPC1A
+124 more
Copy number gain
See cases
GLikely benign
CNPY4, COPS6
+227 more
Copy number loss
See cases
GPathogenic
ARPC1A
(G25R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(H54R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(I53V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(K103T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(N154S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(L194P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(G200V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(S215G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(V228M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(S237C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(N305S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(R327H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(M352L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(I354V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC1A
(R354W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACHE, ACTL6B
+93 more
Copy number loss
not specified
GLikely pathogenic
ACHE, ACTL6B
+79 more
Duplication
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
AP4M1, ARPC1A
+39 more
Copy number gain
not provided
GUncertain significance
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ARPC1A, ARPC1B
+16 more
Copy number loss
not provided
GUncertain significance
ARPC1A
Copy number loss
not provided
GUncertain significance
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
CYP3A43, GJC3
+99 more
Copy number loss
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
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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