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Items: 1 to 100 of 5035

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 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
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
LOC126860157, LOC126860158
+45 more
Duplication
Papillary renal cell carcinoma type 1
GUncertain significance
LOC111674478, LOC113219433
+42 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Duplication
not provided
+2 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GBenign
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Deletion
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Microsatellite
Cystic fibrosis
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
+3 more
GBenign/Likely benign
CFTR, LOC111674463
Deletion
Cystic fibrosis
GBenign
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
not provided
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Duplication
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
not provided
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
LOC111674463, CFTR
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
not provided
+3 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
LOC111674463, CFTR
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
not specified
+3 more
GBenign/Likely benign
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
not provided
+1 more
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
+1 more
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
not provided
+1 more
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GPathogenic
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
CFTR-related disorder
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
Cystic fibrosis
GBenign
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
(M1fs)
Deletion
(frameshift variant +1 more)
Cystic fibrosis
GPathogenic
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
CFTR, LOC111674463
Microsatellite
(5 prime UTR variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
+4 more
GBenign/Likely benign
LOC111674463, CFTR
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
GUncertain significance
LOC111674463, CFTR
Single nucleotide variant
not provided
+3 more
GBenign/Likely benign
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674463
Single nucleotide variant
(5 prime UTR variant)
Cystic fibrosis
GUncertain significance
CFTR
(M1V)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
GPathogenic
CFTR
(M1R)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
GPathogenic
CFTR
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
CFTR
(M1K)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
GPathogenic
CFTR
(M1I)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
Gnot provided
CFTR
(M1I)
Single nucleotide variant
(missense variant +1 more)
Cystic fibrosis
GPathogenic
CFTR
(Q2* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cystic fibrosis
GPathogenic
CFTR
(Q2fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Indel
Cystic fibrosis
Gnot provided
CFTR
(Q2*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(Q2P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CFTR
(R3W)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CFTR
(R3fs)
Deletion
(frameshift variant)
Bronchiectasis with or without elevated sweat chloride 1
+1 more
GPathogenic/Likely pathogenic
CFTR
(R3M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
+1 more
GUncertain significance
CFTR
(S4L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(S4*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(P5S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GLikely pathogenic
CFTR
(P5R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GLikely pathogenic
CFTR
(P5L)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 1
+4 more
GConflicting classifications of pathogenicity
CFTR
(L6fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
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