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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMGCS2
(R506H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R506C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R463W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HMGCS2
(H430R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R452Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HMGCS2
(T442I +1 more)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GUncertain significance
HMGCS2
(A376T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(T376I +1 more)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GUncertain significance
HMGCS2
(S371C +1 more)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GUncertain significance
HMGCS2
(G298R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
Single nucleotide variant
(synonymous variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GLikely benign
HMGCS2
(N276S +1 more)
Single nucleotide variant
(missense variant)
HMGCS2-related disorder
+2 more
GUncertain significance
HMGCS2
(M256I +1 more)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GUncertain significance
HMGCS2
(P247H +1 more)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GConflicting classifications of pathogenicity
HMGCS2
(R246Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R246G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(D287N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(A284G +1 more)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GUncertain significance
HMGCS2
(I277N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HMGCS2
(K234R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R274C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R226Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HMGCS2
(K214R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(M193K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(A215V)
Single nucleotide variant
(missense variant +1 more)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+1 more
GUncertain significance
HMGCS2
(A198V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HMGCS2
(E128K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(P120T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HMGCS2
(S97L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R92G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HMGCS2
(S40Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2, LOC122094910
(A32V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HMGCS2, LOC122094910
(P30A)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
+2 more
GUncertain significance
HMGCS2, LOC122094910
(L23fs)
Duplication
(frameshift variant)
Inborn genetic diseases
GPathogenic
HMGCS2
(R10C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCS2
(R10S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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