U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
ZNF747, ZNF747-DT
+378 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+180 more
Copy number loss
See cases
GPathogenic
LOC130058889, LOC130058890
+207 more
Copy number gain
See cases
GPathogenic
CD2BP2-DT, DCTPP1
+46 more
Copy number gain
See cases
GUncertain significance
ZNF688
(R259Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(E215Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(R177H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(R168S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(I171T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(T163I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(P140R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(A147V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(V136M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(R102Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(S82R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(S82G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF688
(Q66P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130058848, ZNF688
(Q47P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130058848, ZNF688
(C20F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130058848, ZNF688
(E15K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130058848, ZNF688
(L9R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130058848, ZNF688
(P5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALDOA, ASPHD1
+76 more
Deletion
Dilated Cardiomyopathy, Dominant
GUncertain significance
BCL7C, CFAP119
+13 more
Copy number gain
not provided
GUncertain significance
ALDOA, ASPHD1
+42 more
Copy number gain
Chromosome 16p11.2 duplication syndrome
GPathogenic
ALDOA, BOLA2B
+29 more
Copy number loss
Distal 16p11.2 microdeletion syndrome
GLikely pathogenic
STX4, DCTPP1
+52 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
TGFB1I1, TRIM72
+38 more
Deletion
Branched-chain keto acid dehydrogenase kinase deficiency
GUncertain significance
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AHSP, ALDOA
+99 more
Copy number loss
See cases
GLikely pathogenic
CFAP119, FBRS
+12 more
Copy number loss
See cases
GUncertain significance
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
BCKDK, BCL7C
+30 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
Format
Items per page
Sort by
Choose Destination