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Links from MedGen

Items: 1 to 100 of 283

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HYCC1
(Q49*)
Single nucleotide variant
(nonsense)
Hypomyelination and Congenital Cataract
GLikely pathogenic
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
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
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(L200V)
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
(3 prime UTR variant +1 more)
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
(Q117*)
Single nucleotide variant
(nonsense)
Hypomyelination and Congenital Cataract
GLikely pathogenic
HYCC1
(C213fs)
Deletion
(frameshift variant)
Hypomyelination and Congenital Cataract
GLikely pathogenic
CDCA7L, DNAH11
+7 more
Deletion
Primary ciliary dyskinesia
+1 more
GPathogenic
HYCC1
(S90L)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant)
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
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(T29K)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(I101V)
Single nucleotide variant
(missense variant)
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
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(V8I)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(E393G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(H96Y)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(G398R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(S163G)
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
(splice acceptor variant)
Hypomyelination and Congenital Cataract
GLikely pathogenic
HYCC1
(G363D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(L420R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(Q239H)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(R299K)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
+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
(I45F)
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
(I377T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GUncertain significance
HYCC1
(T126M)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(P511L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(R65H)
Single nucleotide variant
(missense variant)
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
(intron variant)
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
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(N380K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(H381Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(V470L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(T173R)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Duplication
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G378R)
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
(M502I)
Single nucleotide variant
(3 prime UTR variant +1 more)
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
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(G214E)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(splice acceptor variant)
Hypomyelination and Congenital Cataract
GLikely pathogenic
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron 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
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
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
(3 prime UTR variant +1 more)
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
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
GLikely benign
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
(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
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
+1 more
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GBenign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(intron variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
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
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
Single nucleotide variant
(synonymous variant)
Hypomyelination and Congenital Cataract
GLikely benign
HYCC1
(S362L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(T148I)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(Q154R)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
(A447V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypomyelination and Congenital Cataract
GUncertain significance
HYCC1
Single nucleotide variant
(splice donor variant)
Hypomyelination and Congenital Cataract
GLikely pathogenic
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