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Links from Gene

Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTTNBP2
Single nucleotide variant
(synonymous variant)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(H252L +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(Y165C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(E183K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(K880E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFTR, CTTNBP2
Deletion
Cystic fibrosis
GPathogenic
CTTNBP2
(M308V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CTTNBP2
(R265L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(T218S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(M223L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(E182K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(V195I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CTTNBP2
(P1661T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(P917A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(G906A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(G1563V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(G1545R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(S1521C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(A1510G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(S1415G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(D724E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(H1395Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(G1381S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(A1297V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTTNBP2
(E1257Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(R1248C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(R460T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(I1157T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(D11V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTTNBP2
(T401A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(P362S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(G286R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(R244K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(E191G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(P586R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(T459A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(V29M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(Q461R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(V352L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CTTNBP2
(S418F +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(L1195V +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GBenign
CTTNBP2
Single nucleotide variant
(synonymous variant)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
Single nucleotide variant
(intron variant)
CTTNBP2-related disorder
GBenign
CTTNBP2
(R271H +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(A109T +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(S1080I +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
Single nucleotide variant
(synonymous variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
Single nucleotide variant
(synonymous variant)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
Duplication
(intron variant)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(C658R +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
Single nucleotide variant
(synonymous variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(Q630E +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(Q1130K +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GBenign
CTTNBP2
(E9K)
Single nucleotide variant
(5 prime UTR variant +1 more)
CTTNBP2-related disorder
GBenign
CTTNBP2
Single nucleotide variant
(synonymous variant)
CTTNBP2-related disorder
GBenign
CTTNBP2
Single nucleotide variant
(intron variant)
CTTNBP2-related disorder
GBenign
CTTNBP2
Single nucleotide variant
(synonymous variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(G32R +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
Single nucleotide variant
(5 prime UTR variant +1 more)
CTTNBP2-related disorder
GLikely benign
CTTNBP2
(Q1264K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTTNBP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTTNBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTTNBP2
(P1568L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CTTNBP2
(A614P +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(K224R +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(Y1318C +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(I1352V +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(P524L +1 more)
Single nucleotide variant
(missense variant +1 more)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(L1494fs +2 more)
Duplication
(frameshift variant)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(R212K +2 more)
Single nucleotide variant
(missense variant)
CTTNBP2-related disorder
GUncertain significance
CTTNBP2
(N1441I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(L117Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(H917Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(R141H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(R1271W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(R265Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(L293P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(R200Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CTTNBP2
(V1105I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(A1323V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(M1228K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(V662I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(T615M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(A218V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(M29L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(Q54R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(T1513M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(K244E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(D1291N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(P917S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(P1310R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(A232V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(M425T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(V534I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(K205T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(A27T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTTNBP2
(P489L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CTTNBP2
(I1471V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(A664T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTTNBP2
(S507L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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