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Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HYCC1
(D521N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(S519P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GBenign
HYCC1
(P511L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G507R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
HYCC1
(Q505H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GConflicting classifications of pathogenicity
HYCC1
(M502I)
Single nucleotide variant
(missense variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(M502V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
HYCC1
(T498A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HYCC1
(V494I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G475R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(C472Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(V470L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(P466L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(S458N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(A447V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(A447T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(S438N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(S431G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(L420R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(R407Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
HYCC1
(C401R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GBenign/Likely benign
HYCC1
(G398R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(E395G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(E393G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G391R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
HYCC1
(R383Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
HYCC1
(H381Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(N380K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G378R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(I377T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G363D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(S362L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(T359I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(A355V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GConflicting classifications of pathogenicity
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GBenign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GBenign/Likely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GConflicting classifications of pathogenicity
HYCC1
(R323K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(R311Q)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
+1 more
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GConflicting classifications of pathogenicity
HYCC1
(R299K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HYCC1
(T298P)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(S293F)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
+1 more
GUncertain significance
HYCC1
(H288Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HYCC1
(H288P)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GBenign
HYCC1
Duplication
(intron variant)
Hypomyelination and Congenital Cataract
GBenign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GConflicting classifications of pathogenicity
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(splice donor variant)
Hypomyelination and Congenital Cataract
GLikely pathogenic
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(A259T)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
+1 more
GUncertain significance
HYCC1
(A256P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
+1 more
GBenign/Likely benign
HYCC1
Deletion
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(Y245N)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(L241*)
Single nucleotide variant
(nonsense)
Hypomyelination and Congenital Cataract
GPathogenic/Likely pathogenic
HYCC1
(Q239H)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(R217Q)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
+1 more
GBenign/Likely benign
HYCC1
(R217*)
Single nucleotide variant
(nonsense)
Hypomyelination and Congenital Cataract
GPathogenic
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(G214E)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GBenign
HYCC1
(I210V)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
+2 more
GUncertain significance
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