U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
LOC129994229, LOC129994230
+688 more
Copy number loss
See cases
GPathogenic
LOC129994369, LOC129994370
+495 more
Copy number loss
See cases
GPathogenic
LOC129994289, LOC129994290
+342 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
EPB41L4A-DT, APC
+180 more
Copy number loss
See cases
GPathogenic
EPB41L4A-DT, APC
+134 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+230 more
Copy number loss
See cases
GPathogenic
LOC129994389, LOC129994390
+340 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+186 more
Copy number loss
See cases
GPathogenic
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, DCP2
+119 more
Copy number loss
See cases
GPathogenic
DCP2
(P9S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(D30fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
DCP2
(Q52K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP2
(N53Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP2
(P74L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP2
(Q79P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP2
(K224R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(P234L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(R241Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(T259M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(R274C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(G283S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(V290L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(K343Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DCP2
(Q326E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(E377K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(L381P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP2
(V389M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APC, DCP2
+4 more
Copy number gain
not specified
GUncertain significance
AP3S1, APC
+80 more
Copy number loss
not specified
GPathogenic
DCP2, MCC
Copy number gain
not provided
GUncertain significance
APC, DCP2
+5 more
Copy number gain
not provided
GUncertain significance
DCP2, MCC
Copy number loss
not provided
GUncertain significance
TSSK1B, YTHDC2
+7 more
Copy number loss
not specified
GPathogenic
AP3S1, APC
+21 more
Copy number loss
not specified
GPathogenic
CAMK4, CCDC112
+60 more
Copy number loss
not specified
GPathogenic
DCP2, EFNA5
+56 more
Copy number loss
not specified
GPathogenic
APC, DCP2
+2 more
Deletion
Familial adenomatous polyposis 1
GPathogenic
DCP2, MCC
Copy number loss
not provided
GUncertain significance
APC, DCP2
+5 more
Copy number gain
not provided
GUncertain significance
ADAMTS19, ADGRV1
+104 more
Copy number gain
not provided
GPathogenic
AP3S1, APC
+39 more
Copy number loss
not provided
GPathogenic
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
REEP5, DCP2
Copy number loss
not provided
GUncertain significance
ATG12, ATOX1
+385 more
Deletion
Familial adenomatous polyposis 1
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
TRIM36, TSLP
+41 more
Copy number loss
See cases
GPathogenic
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination