U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+491 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+228 more
Copy number loss
See cases
GPathogenic
LOC130000591, LOC130000592
+470 more
Copy number gain
See cases
GPathogenic
ARFGEF1, ARFGEF1-DT
+245 more
Copy number gain
See cases
GPathogenic
C8orf34, C8orf34-AS1
(F19L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C8orf34
(I193V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C8orf34, EYA1
+53 more
Copy number loss
See cases
GPathogenic
C8orf34
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C8orf34, LOC124174271
Copy number gain
See cases
GLikely benign
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
C8orf34
Copy number loss
not provided
GUncertain significance
C8orf34
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ADHFE1, ARFGEF1
+23 more
Copy number loss
not provided
GPathogenic
C8orf34, PREX2
Copy number gain
not provided
GUncertain significance
SULF1, C8orf34
Copy number gain
not provided
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
PREX2, C8orf34
Copy number gain
not provided
GUncertain significance
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination