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Items: 1 to 100 of 191

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM10, ALDH1A2
+287 more
Copy number loss
See cases
GPathogenic
CGNL1
Copy number gain
See cases
GBenign
CGNL1
Copy number loss
Premature ovarian failure
GUncertain significance
CGNL1
Single nucleotide variant
(synonymous variant)
CGNL1-related disorder
GLikely benign
CGNL1
(Q33K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
Single nucleotide variant
(synonymous variant)
CGNL1-related disorder
GLikely benign
CGNL1
(G41R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R62P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(L64V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(S68W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(G73E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P78H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(S98R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P107A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P111T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(S112N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(I114V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CGNL1
(L130R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R132G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(H141Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P149S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P154T)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GUncertain significance
CGNL1
(P169A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P169L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(A209T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V213A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(E225V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(C234Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(S239T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P266A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P266L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(T268S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
Single nucleotide variant
(synonymous variant)
CGNL1-related disorder
GLikely benign
CGNL1
Single nucleotide variant
(synonymous variant)
CGNL1-related disorder
GLikely benign
CGNL1
(N325T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V326I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(T341N)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GUncertain significance
CGNL1
(D344G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(I350V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(G352A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(I357T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(K359N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(Q362K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(L366P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R369K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R369S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(G373R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(T380P)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GBenign
CGNL1
(G396V)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GLikely benign
CGNL1
(Y403H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R420P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(P429S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CGNL1
(V440M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V440L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CGNL1
(C456R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(S459F)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GBenign
CGNL1
(I466V)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GLikely benign
CGNL1
(P485S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CGNL1
(L487F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(Q490H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(K492E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(A502T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R509P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(T511A)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GBenign
CGNL1
(P528L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(Q544R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(T554I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(N561S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(K564E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(T568A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CGNL1
(K577E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(F582L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(I585M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(A596T)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GLikely benign
CGNL1
(Q597R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(E614D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V634I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V634G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(K635R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R648T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(K661R)
Single nucleotide variant
(missense variant)
CGNL1-related disorder
GLikely benign
CGNL1
(L679V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R680W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R680Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
Single nucleotide variant
(intron variant)
not provided
GBenign
CGNL1
(E692V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R693W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R701K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(D712N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862145, LOC126862146
+140 more
Copy number loss
See cases
GPathogenic
CGNL1
(D741Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(K755E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(R756P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely pathogenic
CGNL1
(M778L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(M778R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(L781P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V805D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(E821Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1
(V824M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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