U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 544

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001517, LOC130001518
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+582 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+539 more
Copy number gain
See cases
GPathogenic
LOC130001520, LOC130001521
+410 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
SLC1A1, SLC24A2
+461 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+412 more
Copy number gain
See cases
GPathogenic
LOC126860594, LOC126860595
+355 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
C9orf72, CAAP1
+136 more
Copy number loss
See cases
GPathogenic
CDKN2A, CDKN2A-AS1
+78 more
Duplication
Schizophrenia
GLikely pathogenic
FOCAD, HACD4
+20 more
Copy number loss
See cases
GUncertain significance
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
(K7I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOCAD
(Q17K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOCAD
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FOCAD
(A20G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(S41Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
Microsatellite
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FOCAD
Single nucleotide variant
(intron variant)
FOCAD-related disorder
GLikely benign
FOCAD
Single nucleotide variant
(synonymous variant)
FOCAD-related disorder
GLikely benign
FOCAD
(N59S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(A65V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(V74I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOCAD
(L85F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(G87R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOCAD
(S94fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOCAD
(I102V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOCAD
(M106T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOCAD
(H107Y)
Single nucleotide variant
(missense variant +1 more)
FOCAD-related disorder
GLikely benign
FOCAD
(H107Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOCAD
(L109I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOCAD
(I124V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOCAD
(Q125R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FOCAD
(S126G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FOCAD
Duplication
(intron variant)
not provided
GBenign
FOCAD
Duplication
(intron variant)
not provided
GBenign
FOCAD
Deletion
(intron variant)
not provided
GBenign
FOCAD
Deletion
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Insertion
(intron variant)
not provided
GLikely benign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FOCAD
(P134L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOCAD
(P128T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(E164G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
Deletion
(intron variant)
FOCAD-related disorder
GLikely benign
FOCAD
Single nucleotide variant
(intron variant)
FOCAD-related disorder
GLikely benign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
(L166S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
FOCAD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FOCAD
(A140S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(P176T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FOCAD
(Y147C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
Single nucleotide variant
(synonymous variant)
FOCAD-related disorder
GLikely benign
FOCAD
(R195* +1 more)
Single nucleotide variant
(nonsense)
Liver disease, severe congenital
GPathogenic
FOCAD
(S180L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
Single nucleotide variant
(intron variant)
not provided
GBenign
FOCAD
(V199I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FOCAD
(T240I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(A243V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
FOCAD
(M244V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(R256C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(P223R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOCAD
(W261* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FOCAD
(S234G +1 more)
Single nucleotide variant
(missense variant)
FOCAD-related disorder
GUncertain significance
FOCAD
(S234C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
Format
Items per page
Sort by
Choose Destination