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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTT, LOC109461479
+1 more
(Q34fs)
Deletion
(frameshift variant)
Huntington disease
+1 more
GLikely benign
HTT, LOC109461479
+1 more
Microsatellite
(inframe_insertion)
Huntington disease
GLikely pathogenic
HTT
Single nucleotide variant
(synonymous variant)
Huntington disease
+2 more
GBenign/Likely benign
HTT
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
HTT, LOC109461479
+1 more
Microsatellite
(inframe_insertion)
Huntington disease
GUncertain significance
HTT
(G2970D +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
+1 more
GUncertain significance
HTT, LOC109461479
+1 more
(Q31fs)
Deletion
(inframe_deletion +1 more)
Huntington disease
GLikely benign
HTT
Microsatellite
Huntington disease
Gother
HTT
Microsatellite
Huntington disease
GBenign
HTT
Microsatellite
Huntington disease
Gother
HTT, LOC109461479
+1 more
Microsatellite
Huntington disease
Gnot provided
HTT, LOC109461479
+1 more
Microsatellite
Huntington disease
Gnot provided
HTT, LOC109461479
+1 more
Microsatellite
Huntington disease
GBenign
HTT, LOC109461479
+1 more
Microsatellite
Huntington disease
GPathogenic
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