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 400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
LOC113219472, LOC113633876
+131 more
Copy number loss
Autism spectrum disorder
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
ASZ1, CAPZA2
+131 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
CFTR, CFTR-AS1
+1 more
(S466* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
+1 more
Deletion
(inframe_deletion +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Deletion
(splice acceptor variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Deletion
(splice acceptor variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Indel
(splice acceptor variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Deletion
(splice acceptor variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Deletion
(intron variant)
not specified
GLikely benign
CFTR, LOC111674472
Indel
(splice acceptor variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Deletion
(splice acceptor variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Indel
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
CFTR-related disorder
+1 more
GPathogenic
LOC111674472, CFTR
Deletion
(intron variant)
Cystic fibrosis
GBenign
CFTR, LOC111674472
Deletion
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Deletion
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674472
Deletion
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
LOC111674472, CFTR
Single nucleotide variant
(splice acceptor variant)
Bronchiectasis with or without elevated sweat chloride 1
GPathogenic
CFTR, LOC111674472
Microsatellite
(splice acceptor variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(L997F)
Single nucleotide variant
(missense variant)
Obstructive azoospermia
+4 more
GConflicting classifications of pathogenicity
CFTR, LOC111674472
(L998I)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(L998fs)
Deletion
(frameshift variant)
Cystic fibrosis
+1 more
GPathogenic/Likely pathogenic
LOC111674472, CFTR
(L998F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
LOC111674472, CFTR
(L998F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(L998fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic/Likely pathogenic
CFTR, LOC111674472
(I1000fs)
Deletion
(frameshift variant)
Cystic fibrosis
+1 more
GPathogenic
CFTR, LOC111674472
Deletion
(inframe_deletion)
Cystic fibrosis
GLikely pathogenic
CFTR, LOC111674472
(I1000fs)
Deletion
(frameshift variant)
Cystic fibrosis
Gnot provided
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(V1001fs)
Microsatellite
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(V1001M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(I1002T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(G1003R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFTR, LOC111674472
(G1003*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
Gnot provided
CFTR, LOC111674472
(G1003E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(A1004fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(A1006fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic/Likely pathogenic
CFTR, LOC111674472
(I1005V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(I1005T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(I1005R)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+1 more
GPathogenic/Likely pathogenic
CFTR, LOC111674472
(A1006E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(V1008fs)
Deletion
(frameshift variant)
Cystic fibrosis
Gnot provided
LOC111674472, CFTR
(V1008fs)
Deletion
(frameshift variant)
Bronchiectasis with or without elevated sweat chloride 1
+1 more
GPathogenic/Likely pathogenic
CFTR, LOC111674472
(V1008D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFTR, LOC111674472
(A1009S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(A1009T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(L1011*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Hereditary pancreatitis
+1 more
GLikely benign
CFTR, LOC111674472
(Q1012K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(Q1012R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC111674472, CFTR
(Y1014fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(P1013T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFTR, LOC111674472
(P1013S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC111674472, CFTR
(Y1014fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(P1013L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GConflicting classifications of pathogenicity
LOC111674472, CFTR
(P1013H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+4 more
GConflicting classifications of pathogenicity
LOC111674472, CFTR
(Y1014del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
LOC111674472, CFTR
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(I1015V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(F1016S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+2 more
GConflicting classifications of pathogenicity
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(P1021T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC111674472, CFTR
(P1021S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GConflicting classifications of pathogenicity
CFTR, LOC111674472
(P1021L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GConflicting classifications of pathogenicity
CFTR, LOC111674472
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic/Likely pathogenic
CFTR, LOC111674472
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, LOC111674472
(V1022M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination