U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 53

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, ARMC1
+150 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
ADHFE1, LOC130000529
(R6Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1, LOC130000529
(V9L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(Y30C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(I102T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(A136D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(P180L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(T186A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(I209N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(G221R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(M231L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(R234Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADHFE1
(Y251C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(R259Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(R269Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(V298F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(N323I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(G325S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(Y334*)
Duplication
(nonsense)
not provided
GUncertain significance
ADHFE1
(H357Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(V361M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(A367V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(F371L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(A373T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(R392C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(Q440L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(R442G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADHFE1
(V443F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ADHFE1, ARFGEF1
+15 more
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ADHFE1, ARFGEF1
+23 more
Copy number loss
not specified
GPathogenic
ADHFE1, ARFGEF1
+23 more
Copy number loss
not provided
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
ADHFE1, ARMC1
+14 more
Copy number loss
not provided
GPathogenic
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