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Items: 1 to 100 of 240

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSRP3, CSRP3-AS1
+86 more
Copy number loss
See cases
GPathogenic
CSRP3, CSRP3-AS1
+83 more
Copy number gain
See cases
GUncertain significance
LEISA1, NAV2
(K9T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LEISA1, NAV2
(K11E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LEISA1, NAV2
Single nucleotide variant
(synonymous variant +2 more)
NAV2-related disorder
+1 more
GLikely benign
LEISA1, NAV2
Single nucleotide variant
(synonymous variant +2 more)
NAV2-related disorder
GBenign
LEISA1, NAV2
(V18M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LEISA1, NAV2
Single nucleotide variant
(synonymous variant +2 more)
NAV2-related disorder
GBenign
LEISA1, NAV2
(P36H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LEISA1, NAV2
(S43N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LEISA1, NAV2
(T51S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LEISA1, NAV2
(Y52C)
Single nucleotide variant
(missense variant +2 more)
NAV2-related disorder
GLikely benign
LEISA1, NAV2
(P57R)
Single nucleotide variant
(missense variant +2 more)
NAV2-related disorder
GBenign
LEISA1, NAV2
(L66Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAV2
(R109K +1 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GBenign
NAV2
Single nucleotide variant
(synonymous variant)
NAV2-related disorder
+1 more
GBenign/Likely benign
NAV2
(K132N +1 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GUncertain significance
NAV2
(A94S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(G102E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P143S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(A145T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(G151R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NAV2
(A152T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(A216G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(T160I +1 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GUncertain significance
NAV2
(P225L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(V165L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(Q247P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861157, NAV2
(A199T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861157, NAV2
(R298H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861157, NAV2
(P326Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861157, NAV2
(P241L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861157, NAV2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126861157, NAV2
Single nucleotide variant
(intron variant)
not provided
GBenign
NAV2
(E311D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P257L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(A265P +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GLikely benign
NAV2
(S330P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(E268D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(G270S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NAV2
(S282L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P285R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(M309T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(R359W +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GLikely benign
NAV2
(R446Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(T361I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
Single nucleotide variant
(synonymous variant)
NAV2-related disorder
+1 more
GBenign/Likely benign
NAV2
(E379* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NAV2
(T474I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(V388M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(Q404H +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GBenign
NAV2
(F471L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(N421S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAV2
(R494W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(T447M +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GBenign
NAV2
(E467K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(E467D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(K535T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
Single nucleotide variant
(synonymous variant)
NAV2-related disorder
GBenign
NAV2
(K481R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(K484M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P495A +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NAV2
(P590L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAV2
(S594I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(M595R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(R524W +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GLikely benign
NAV2
(R524Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(R526Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(G528R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(Q624K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(G630S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(A617V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(S641Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(S619P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(T563S +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GBenign
NAV2
(V676I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(E620A +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
GLikely benign
NAV2
(H725Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P645T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(T693M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(T787M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NAV2
Single nucleotide variant
(synonymous variant)
NAV2-related disorder
GBenign
NAV2
Single nucleotide variant
(synonymous variant)
NAV2-related disorder
+1 more
GBenign/Likely benign
NAV2
(P714R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(A733T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAV2
(M736V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(R743Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(G755S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(R820H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P762L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(R770W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NAV2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAV2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAV2
(S817N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(P836S +2 more)
Single nucleotide variant
(missense variant)
NAV2-related disorder
+1 more
GLikely benign
NAV2
(V841M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAV2
(R912Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAV2
(N849I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Display optionsSort by LocationDownload
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