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Links from MedGen

Items: 1 to 100 of 4595

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(A675fs)
Duplication
(frameshift variant)
Cystic fibrosis
GLikely pathogenic
CFTR
Deletion
Cystic fibrosis
GPathogenic
CFTR
Deletion
Cystic fibrosis
GPathogenic
CFTR
Deletion
Cystic fibrosis
GPathogenic
CFTR
Deletion
Cystic fibrosis
GLikely pathogenic
CFTR
Deletion
Cystic fibrosis
GPathogenic
CFTR
(V1360fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(L327P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(V317L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(A300D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(M284V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(A280E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GUncertain significance
CFTR
(L233H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR
(N187H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(V181I)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR
(I177M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(E1474V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(C1458Y)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(F1437L)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(F143S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(Q1428H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(K1420E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(N1419K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674477
(I1416T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I1404M)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I1404V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(V1322A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(E1314A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(D1312H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(P1306S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I1295V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(A1285S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(G1241A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(R1239S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(Q1209K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(K1200Q)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(N1195K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(K1183E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(S118F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(R1158P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(L1120F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(V1114I)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR, LOC111674472
(F1110C)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(P111S)
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
(A1081G)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
(Q1038R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR, LOC111674472
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR
(D984G)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(K968N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(T966P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(L957F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(L948S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I947S)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(P936R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GLikely benign
CFTR
(G885E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(A875T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(M837I)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(K830R)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(D806H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(Q779K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(S756N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GLikely benign
CFTR
(L738V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(D729G)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I724V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(N722T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(T717N)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
Single nucleotide variant
(synonymous variant)
Cystic fibrosis
GLikely benign
CFTR
(E692D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(E692Q)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(L666F)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I661T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(Q652E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(L644V)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(K643E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(I616T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
CFTR
(M607T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
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