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Links from Gene

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP206
(S136T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFAP206
(T554A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFAP206
(D388G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(V314L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(M67V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP206
(G372A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(D282G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(A265V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(Q258H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(T241R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(R234Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP206
(R182H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(N520S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(I507L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(H465Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(D454Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(I440V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(K411R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(D378Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C6orf163, CFAP206
+4 more
Copy number loss
not specified
GPathogenic
AKIRIN2, ANKRD6
+24 more
Copy number loss
not provided
GPathogenic
CFAP206
(E621K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(R234W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(R550L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(R182C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(V28F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(Y267C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(P403Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(G286S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(P220L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(K473R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(E128K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(T527M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(M36V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(M366R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(I10V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(R417W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(T171I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(D503E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(D88N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(R601C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP206
(A121S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKIRIN2, C6orf163
+15 more
Copy number gain
not provided
GUncertain significance
AKIRIN2, ANKRD6
+65 more
Copy number loss
See cases
GUncertain significance
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
BACH2, ADGRB3
+88 more
Copy number gain
not specified
GPathogenic
CFAP206
(N477fs)
Duplication
(frameshift variant)
Abnormal sperm tail morphology
GPathogenic
CNR1, SLC35A1
+23 more
Copy number loss
not provided
GPathogenic
CFAP206, ORC3
+2 more
Copy number loss
not provided
GUncertain significance
AKIRIN2, ANKRD6
+26 more
Copy number loss
not provided
GUncertain significance
AKIRIN2, CFAP206
+3 more
Copy number gain
not provided
GUncertain significance
AKIRIN2, CFAP206
+3 more
Copy number gain
not provided
GUncertain significance
AKIRIN2, ANKRD6
+56 more
Copy number gain
not provided
GPathogenic
AKIRIN2, ANKRD6
+44 more
Deletion
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
AKIRIN2, ANKRD6
+299 more
Copy number loss
See cases
GPathogenic
C6orf163, CFAP206
+16 more
Copy number loss
See cases
GUncertain significance
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AKIRIN2, ANKRD6
+157 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
LOC129389576, LOC129389577
+153 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
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