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Links from MedGen

Items: 1 to 100 of 329

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPD
Single nucleotide variant
(splice acceptor variant)
Hawkinsinuria
GUncertain significance
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(5 prime UTR variant +1 more)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Deletion
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
(L47fs +1 more)
Deletion
(frameshift variant)
Tyrosinemia type III
+1 more
GPathogenic
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
(R48fs +1 more)
Deletion
(frameshift variant)
Hawkinsinuria
+1 more
GPathogenic
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
(L50fs +1 more)
Deletion
(frameshift variant)
Tyrosinemia type III
+1 more
GPathogenic
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type III
+1 more
GLikely pathogenic
HPD
(L289fs +1 more)
Deletion
(frameshift variant)
Tyrosinemia type III
+1 more
GPathogenic
HPD
Single nucleotide variant
(5 prime UTR variant +1 more)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Deletion
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
(G49fs +1 more)
Deletion
(frameshift variant)
Tyrosinemia type III
+1 more
GPathogenic
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Deletion
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type III
+1 more
GLikely pathogenic
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Deletion
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(5 prime UTR variant +1 more)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD
Single nucleotide variant
(splice acceptor variant)
Hawkinsinuria
+1 more
GLikely pathogenic
HPD
Single nucleotide variant
(synonymous variant)
Hawkinsinuria
+1 more
GLikely benign
HPD, LOC126861662
(H46fs +1 more)
Duplication
(frameshift variant)
Tyrosinemia type III
+1 more
GPathogenic
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(splice donor variant)
Tyrosinemia type III
+1 more
GLikely pathogenic
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(5 prime UTR variant +1 more)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Duplication
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(5 prime UTR variant +1 more)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Deletion
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(splice donor variant)
Tyrosinemia type III
+1 more
GLikely pathogenic
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD, LOC126861662
Single nucleotide variant
(synonymous variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Single nucleotide variant
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
HPD
Deletion
(intron variant)
Tyrosinemia type III
+1 more
GLikely benign
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