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Items: 1 to 100 of 714

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+249 more
Copy number loss
See cases
GPathogenic
CACNA2D1, CACNA2D1-AS1
+79 more
Deletion
Seizure
+1 more
GLikely pathogenic
CACNA2D1, CACNA2D1-AS1
+25 more
Deletion
Schizophrenia
GLikely pathogenic
CACNA2D1, CACNA2D1-AS1
+25 more
Deletion
Seizure
+1 more
GLikely pathogenic
SEMA3E
Copy number loss
See cases
GUncertain significance
SEMA3E
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SEMA3E
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
SEMA3E
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SEMA3E
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SEMA3E
Microsatellite
(3 prime UTR variant)
not provided
GBenign
SEMA3E
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SEMA3E, LOC129998730
Deletion
CHARGE syndrome
GUncertain significance
SEMA3E
(D774Y +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(T712M +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(P709fs +1 more)
Duplication
(frameshift variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(R767L +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SEMA3E
(S761C +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(R700H +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(S747T +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(S685L +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(L742I +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
SEMA3E-related disorder
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SEMA3E
(R679K +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(K738fs +1 more)
Deletion
(frameshift variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GBenign
SEMA3E
(D676E +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(C674S +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(W673C +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(E730* +1 more)
Single nucleotide variant
(nonsense)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
(S720T +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+2 more
GUncertain significance
SEMA3E
(Y719D +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(G718S +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+2 more
GConflicting classifications of pathogenicity
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
(I717V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SEMA3E
(Q655K +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
SEMA3E
(K651N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SEMA3E
(P648T +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEMA3E
(S703L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SEMA3E
(I642M +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(S641R +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
GUncertain significance
SEMA3E
(S701I +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+3 more
GBenign/Likely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(H632R +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(D626V +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(D626N +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
(D685G +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
(D625N +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+3 more
GUncertain significance
SEMA3E
(N683S +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SEMA3E
(E619K +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+2 more
GLikely benign
SEMA3E
(E616G +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(T609I +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(R606H +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(T604M +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
SEMA3E
(H663R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(V657A +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(V597I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SEMA3E
(T656I +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(Y592C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(S587A +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
SEMA3E
(R583S +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(R583fs +1 more)
Deletion
(frameshift variant)
SEMA3E-related disorder
GUncertain significance
SEMA3E
(L640F +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(L637V +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
SEMA3E
(M635I +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(K574Q +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(R631S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SEMA3E
(R571K +1 more)
Single nucleotide variant
(missense variant)
SEMA3E-related disorder
+1 more
GUncertain significance
SEMA3E
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
GLikely benign
SEMA3E
(D569E +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(D569Y +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
GUncertain significance
SEMA3E
(V626M +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
GLikely benign
SEMA3E
Single nucleotide variant
(intron variant)
CHARGE syndrome
GLikely benign
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