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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTT
(E660K +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
(Q638R +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
(S1226L +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT, LOC109461479
+1 more
(Q34fs)
Deletion
(frameshift variant)
Huntington disease
+1 more
GLikely benign
HTT
(M1825V +3 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
HTT
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
HTT
Single nucleotide variant
(intron variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
(L1237I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HTT
Single nucleotide variant
(intron variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
(S1224F +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
(D660N +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GUncertain significance
HTT
(G2970D +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
+1 more
GUncertain significance
HTT
(F2719Y +1 more)
Single nucleotide variant
(missense variant)
Lopes-Maciel-Rodan syndrome
GPathogenic
HTT
(T1262M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
HTT
(P705L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HTT
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
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