U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
ACSS3, ALX1
+287 more
Copy number loss
See cases
GPathogenic
DUSP6
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DUSP6
(N371I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
(S204C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
(T346M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DUSP6
(M179I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DUSP6
Variation
(no sequence alteration)
not provided
GBenign
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DUSP6
(E281D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
Deletion
(intron variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DUSP6
(A275D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DUSP6
(Q270R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DUSP6
(L214F)
Single nucleotide variant
(missense variant +1 more)
DUSP6-related disorder
GUncertain significance
DUSP6
(N189S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DUSP6
(P188L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP6
(S182F)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
DUSP6
(G169D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DUSP6
(L145R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DUSP6
(S144A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DUSP6
(A141D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DUSP6
(Q140H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP6
(R128W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
(K120Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
(V114L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DUSP6
(G110S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
(S102R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
(V95M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
(D93E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
(T87I)
Single nucleotide variant
(missense variant)
not provided
GBenign
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
(F77I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 19 with or without anosmia
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
(P72Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
(A57T)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 19 with or without anosmia
+1 more
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
(C39*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 19 with or without anosmia
GPathogenic
DUSP6
(E32K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DUSP6
(G30C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DUSP6
(A21V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
(S12L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUSP6
(A11V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
(V8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP6
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DUSP6
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
ACSS3, ALX1
+43 more
Copy number loss
not specified
GPathogenic
ATP2B1, DUSP6
+3 more
Copy number gain
not provided
GUncertain significance
DUSP6, POC1B
Copy number loss
not specified
GUncertain significance
CEP290, DUSP6
+6 more
Duplication
not provided
GUncertain significance
ATP2B1, DUSP6
+4 more
Deletion
not provided
GPathogenic
ACSS3, ALX1
+46 more
Copy number loss
not provided
GPathogenic
DUSP6, POC1B
Copy number loss
not provided
GUncertain significance
ATP2B1, C12orf50
+8 more
Copy number loss
not provided
GLikely pathogenic
ATP2B1, C12orf50
+13 more
Copy number loss
not provided
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination