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Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AGO1, AGO3
+70 more
Copy number loss
See cases
GLikely pathogenic
CLSPN
(R1267Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CLSPN
(K1305N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLSPN
(R1179T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(F1239L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(Q1165H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(I1228T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(M1143V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(E1131D +1 more)
Single nucleotide variant
(missense variant)
Myoepithelial tumor
GUncertain significance
CLSPN, LOC126805694
(M1122V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN, LOC126805694
(V1083I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN, LOC126805694
(I1076T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN, LOC126805694
(E1006K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN, LOC126805694
(E1004K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(D1032V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(L1024V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(D1011G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(E930K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(T987I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(H926Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(T852I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(R893Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(P828T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CLSPN
(L799S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(C862Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(A792G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(A781T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(P832L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(R807S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(G740E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(G732E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(R731C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(Y722S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(D722G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(P716T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(I687V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(E669K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(E584G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(M560V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CLSPN
(D559V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLSPN
(V555I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CLSPN
(N552H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLSPN
(D515N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(R509Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(E466K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(A450T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(V402E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(T391I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(Q388H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(T387I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(A379V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(N378S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(G364S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(H361Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(H343Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLSPN
(Y306H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLSPN
(K277R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(S268L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(D213E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(D204N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(I155V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(D143G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(K105R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(I100V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLSPN
(E90Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(E85K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(V61F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLSPN
(S53N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(S30T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(P27S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLSPN
(H10N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADPRS, AGO1
+32 more
Copy number loss
not provided
GPathogenic
ADPRS, AGO1
+37 more
Copy number loss
not specified
GUncertain significance
ADPRS, AGO1
+12 more
Copy number gain
not specified
GUncertain significance
AGO1, AGO3
+7 more
Copy number loss
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
YARS1, ZBTB8A
+41 more
Copy number loss
not provided
GPathogenic
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ADPRS, AGO1
+31 more
Copy number loss
See cases
GPathogenic
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