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Items: 1 to 100 of 1152

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123497907, LOC123497908
+1445 more
Copy number gain
See cases
GPathogenic
CLPTM1L, CMBL
+953 more
Copy number gain
See cases
GPathogenic
LOC129993840, LOC129993841
+952 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
ACTBL2, ANKRD55
+518 more
Copy number gain
See cases
GPathogenic
LOC126807367, LOC126807368
+254 more
Copy number gain
See cases
GPathogenic
ANXA2R, ANXA2R-AS1
+245 more
Copy number gain
See cases
GPathogenic
C9, CPLANE1
+66 more
Copy number gain
See cases
GPathogenic
EGFLAM, EGFLAM-AS1
+8 more
Copy number gain
See cases
GUncertain significance
LIFR
Duplication
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Insertion
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Duplication
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Deletion
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Deletion
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIFR
Deletion
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GBenign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Microsatellite
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GLikely benign
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Single nucleotide variant
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
LIFR
Duplication
(3 prime UTR variant)
Stuve-Wiedemann syndrome
GUncertain significance
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