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Links from Gene

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP65, LOC100129175
(E1840*)
Single nucleotide variant
(nonsense)
Susceptibility to severe COVID-19
GLikely pathogenic
CFAP65, LOC100129175
(R1458H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CFAP65, LOC100129175
(F1718C)
Single nucleotide variant
(missense variant)
CFAP65-related disorder
GLikely benign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFAP65, LOC100129175
(P1477S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 40
GUncertain significance
CFAP65, LOC100129175
(D1234G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFAP65, LOC100129175
(W1201*)
Single nucleotide variant
(non-coding transcript variant +1 more)
CFAP65-related disorder
GLikely pathogenic
CFAP65, LOC100129175
(H1511R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP65, LOC100129175
(I1240V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CFAP65, LOC100129175
(A1648T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP65, LOC100129175
(T1381I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP65, LOC100129175
(Q1829K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFAP65, LOC100129175
(H1298L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFAP65, LOC100129175
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFAP65, LOC100129175
(R1545Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFAP65, LOC100129175
(S1656P)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFAP65, LOC100129175
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFAP65, LOC100129175
(P1729R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFAP65, LOC100129175
(E1781*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 40
GPathogenic
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