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
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
BRSK1, C19orf85
+196 more
Copy number gain
See cases
GUncertain significance
BRSK1, C19orf85
+194 more
Copy number gain
See cases
GLikely pathogenic
CCDC106, EDDM13
+106 more
Copy number loss
See cases
GLikely pathogenic
A1BG, A1BG-AS1
+179 more
Copy number gain
See cases
GUncertain significance
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
ZNF667
(N603S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(G551R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(C504R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(H376Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(K431R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(C363Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(E362G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF667
(R340Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(C335Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(K334N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(A255V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF667
(K250E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(R288S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF667
(T223I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF667
(G202R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862940, ZNF667
(R82Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF667, LOC126862940
(R82W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF667
(R58Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF667
(R48W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC106, DUXA
+36 more
Copy number loss
not specified
GUncertain significance
PEG3, SMIM17
+8 more
Copy number gain
not provided
GUncertain significance
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
GALP, NLRP11
+15 more
Copy number gain
not specified
GUncertain significance
GALP, NLRP13
+10 more
Copy number gain
not provided
GUncertain significance
ZFP28, ZNF471
+3 more
Copy number gain
not provided
GUncertain significance
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
SMIM17, ZNF71
+8 more
Copy number gain
not provided
GLikely benign
ZSCAN5B, GALP
+10 more
Copy number gain
not provided
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
ZNF667, ZNF471
+16 more
Copy number loss
not provided
GUncertain significance
CCDC106, COX6B2
+47 more
Copy number gain
See cases
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
BRSK1, CCDC106
+61 more
Copy number gain
See cases
GUncertain significance
A1BG, AURKC
+64 more
Copy number gain
See cases
GUncertain significance
GALP, NLRP11
+21 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
SMIM17, ZFP28
+8 more
Copy number gain
See cases
GUncertain significance
NLRP5, NLRP8
+26 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
NLRP4, CCDC106
+31 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
Format
Items per page
Sort by
Choose Destination