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 386

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
CADPS2, CALD1
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
TMEM139-AS1, TMEM140
+1052 more
Copy number gain
See cases
GPathogenic
MIR5707, MIR595
+1046 more
Copy number gain
See cases
GPathogenic
LOC123956245, LOC123956246
+1025 more
Copy number gain
See cases
GPathogenic
LOC285889, LOC349160
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999467, LOC129999468
+944 more
Copy number loss
See cases
GPathogenic
LOC123956263, LOC126860190
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
ADCK2, AGK
+230 more
Copy number gain
See cases
GUncertain significance
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
AGK, AGK-DT
+192 more
Copy number gain
See cases
GPathogenic
AGK, AGK-DT
+1 more
Single nucleotide variant
not provided
GBenign
AGK, AGK-DT
+1 more
Single nucleotide variant
(non-coding transcript variant)
Sengers syndrome
+1 more
GUncertain significance
AGK, AGK-DT
Single nucleotide variant
(non-coding transcript variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
Single nucleotide variant
Developmental cataract
+2 more
GConflicting classifications of pathogenicity
AGK
Single nucleotide variant
Developmental cataract
+1 more
GUncertain significance
AGK
Single nucleotide variant
Sengers syndrome
+1 more
GUncertain significance
AGK
Duplication
(5 prime UTR variant)
not specified
GLikely benign
AGK
Single nucleotide variant
(5 prime UTR variant)
Cataract 38
+1 more
GUncertain significance
AGK
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
AGK
Single nucleotide variant
(intron variant)
not provided
GBenign
AGK
Single nucleotide variant
(intron variant)
not provided
GBenign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+2 more
GConflicting classifications of pathogenicity
AGK
Single nucleotide variant
(5 prime UTR variant)
AGK-related condition
GLikely benign
AGK
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
AGK
(K6R)
Single nucleotide variant
(missense variant)
Sengers syndrome
+2 more
GBenign/Likely benign
AGK
(T7M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGK
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
AGK
(R9*)
Single nucleotide variant
(nonsense)
Sengers syndrome
+1 more
GPathogenic
AGK
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AGK
(R9P)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(R9Q)
Single nucleotide variant
(missense variant)
Sengers syndrome
+2 more
GBenign/Likely benign
AGK
(N10S)
Single nucleotide variant
(missense variant)
AGK-related condition
+3 more
GConflicting classifications of pathogenicity
AGK
(H11Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGK
Single nucleotide variant
(synonymous variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(L19F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AGK
Single nucleotide variant
(synonymous variant)
Sengers syndrome
+1 more
GLikely benign
AGK
(W24*)
Single nucleotide variant
(nonsense)
Sengers syndrome
GPathogenic
AGK
(H27R)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(H27P)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
Duplication
(splice donor variant)
Cataract 38
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
AGK-related condition
+4 more
GBenign
AGK
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AGK
Single nucleotide variant
(intron variant)
Cataract 38
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
not provided
GBenign
AGK
Deletion
(intron variant)
not provided
GLikely benign
AGK
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
AGK
(N36K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGK
(A42P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGK
Single nucleotide variant
(splice donor variant)
Sengers syndrome
GPathogenic
AGK
Deletion
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AGK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AGK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AGK
Deletion
(intron variant)
not provided
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Deletion
(intron variant)
Sengers syndrome
+1 more
GBenign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Cataract 38
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
(F49V)
Single nucleotide variant
(missense variant)
Cataract 38
+1 more
GUncertain significance
AGK
(A58V)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
Single nucleotide variant
(synonymous variant)
Sengers syndrome
+1 more
GLikely benign
AGK
(K62N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AGK
(T64A)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(N68S)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(A71V)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(K73E)
Single nucleotide variant
(missense variant)
Cataract 38
+1 more
GUncertain significance
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GLikely benign
AGK
Single nucleotide variant
(intron variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(K75E)
Single nucleotide variant
(missense variant)
AGK-Related Disorders
GUncertain significance
AGK
(T78S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGK
Single nucleotide variant
(synonymous variant)
Sengers syndrome
+1 more
GLikely benign
AGK
(E81K)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
Single nucleotide variant
(synonymous variant)
Sengers syndrome
+1 more
GLikely benign
AGK
(K82E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGK
(P86L)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(P86R)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGK
Single nucleotide variant
(synonymous variant)
Cataract 38
+1 more
GLikely benign
AGK
(M93V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGK
(T96I)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
(I97V)
Single nucleotide variant
(missense variant)
Sengers syndrome
+1 more
GUncertain significance
AGK
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
AGK
Single nucleotide variant
(intron variant)
Cataract 38
+1 more
GUncertain significance
AGK
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
AGK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination