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Items: 1 to 100 of 171

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
AMMECR1L, BIN1
+121 more
Copy number loss
See cases
GPathogenic
CNTNAP5, CNTNAP5-DT
+8 more
Copy number gain
See cases
GLikely benign
LOC115945190, LOC120961783
+101 more
Copy number loss
See cases
GPathogenic
CNTNAP5, CNTNAP5-DT
+7 more
Copy number loss
See cases
GUncertain significance
AMMECR1L, BIN1
+116 more
Copy number loss
See cases
GLikely pathogenic
AMMECR1L, BIN1
+100 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
CNTNAP5, CNTNAP5-DT
Copy number gain
See cases
GUncertain significance
CNTNAP5
Single nucleotide variant
(5 prime UTR variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
(W19C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(N27T)
Single nucleotide variant
(missense variant)
not provided
GBenign
CNTNAP5
Single nucleotide variant
(splice donor variant)
CNTNAP5-related disorder
GUncertain significance
CNTNAP5
(T64I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(Q76H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP5
(G98R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP5, LOC126806340
Copy number gain
See cases
GUncertain significance
LOC129934710, LOC129934711
+112 more
Deletion
See cases
Gnot provided
CNTNAP5
(T128N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GBenign
CNTNAP5
(V138M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R153H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R186Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(K196R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(M198K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(D203Y)
Single nucleotide variant
(missense variant)
CNTNAP5-related disorder
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
(M212I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(A239T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(H241R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
CNTNAP5
(R250W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(L251P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNTNAP5
(T298M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(I303M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P313R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP5
(N336S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(K345E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R347*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CNTNAP5
(H349L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(Y352C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP5
(Q386K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(S420R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R435C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
(S452L +1 more)
Single nucleotide variant
(missense variant)
CNTNAP5-related disorder
GBenign
CNTNAP5
(A458S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(A457T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R459W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R462C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P474L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
(I507V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(L526F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(G531V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(S532Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GBenign
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CNTNAP5
(I628T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R642P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(N646H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P650S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(D656E +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNTNAP5
(G658R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(H673R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(R683G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P691L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(D692G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNTNAP5
(G701fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
CNTNAP5
(P708S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P709R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(G712V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P714S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(V717A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CNTNAP5
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP5
(T745K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(F750S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP5
(A776S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP5
(I839V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP5
(P846S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(T849S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(S866T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
(T901M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(T919A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
Single nucleotide variant
(synonymous variant)
CNTNAP5-related disorder
GLikely benign
CNTNAP5
(K947N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(P954S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNTNAP5
(P958L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNTNAP5
(G958fs +1 more)
Deletion
(frameshift variant)
CNTNAP5-related disorder
GUncertain significance
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