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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHHADH
(L715S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
(N706I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
EHHADH
(S607F +1 more)
Single nucleotide variant
(missense variant)
Chronic kidney disease
+1 more
GConflicting classifications of pathogenicity
EHHADH
(I593T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
(R684G +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EHHADH
(I646M +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EHHADH
(R602Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
EHHADH
(R556G +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
(R483Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EHHADH
(G355S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
(A336T +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
(T239A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
(S328L +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
EHHADH
(V201F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
EHHADH
(T283A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EHHADH
(L255V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
(Q238L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EHHADH
(I107S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EHHADH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
EHHADH
(I41V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
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