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Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHODH
(G32V)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
(R88*)
Single nucleotide variant
(nonsense)
Miller syndrome
+1 more
GUncertain significance
DHODH
(R244Q)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GConflicting classifications of pathogenicity
DHODH
(D206N)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GUncertain significance
DHODH
(R35H)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GUncertain significance
DHODH
(E318*)
Single nucleotide variant
(nonsense)
Miller syndrome
GLikely pathogenic
DHODH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DHODH
Single nucleotide variant
(intron variant)
Miller syndrome
+1 more
GBenign
DHODH
(L83fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
(H5R)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
+1 more
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
(S350A)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(intron variant)
Miller syndrome
+1 more
GConflicting classifications of pathogenicity
DHODH
(K169Q)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GLikely benign
DHODH, LOC126862390
(G348A)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
(P328L)
Single nucleotide variant
(missense variant)
DHODH-related disorder
+2 more
GConflicting classifications of pathogenicity
DHODH
Single nucleotide variant
(intron variant)
Miller syndrome
GUncertain significance
DHODH
(A25T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHODH
(F24L)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHODH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DHODH
Single nucleotide variant
not provided
+1 more
GBenign/Likely benign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GLikely benign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GLikely benign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GBenign
DHODH
Deletion
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
+1 more
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
+1 more
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
+1 more
GBenign
DHODH
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GBenign
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GLikely benign
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GUncertain significance
DHODH, LOC126862390
Single nucleotide variant
(3 prime UTR variant)
Miller syndrome
GLikely benign
LOC126862390, DHODH
(S337C)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GUncertain significance
DHODH
(Y320C)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
(Y320S)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
(R317W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHODH
(R297H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHODH
(G294D)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GUncertain significance
DHODH
(A290V)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(intron variant)
Miller syndrome
+1 more
GBenign/Likely benign
DHODH
(S269R)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
+1 more
GConflicting classifications of pathogenicity
DHODH
(E228K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
GUncertain significance
DHODH
(S222R)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GUncertain significance
DHODH
(G219R)
Single nucleotide variant
(missense variant)
Miller syndrome
+2 more
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
+1 more
GConflicting classifications of pathogenicity
DHODH
Single nucleotide variant
(intron variant)
Miller syndrome
GUncertain significance
DHODH
(Q164H)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
(L153I)
Single nucleotide variant
(missense variant)
DHODH-related disorder
+2 more
GBenign
DHODH
(E52Q)
Single nucleotide variant
(missense variant)
Miller syndrome
GUncertain significance
DHODH
Single nucleotide variant
(synonymous variant)
Miller syndrome
+1 more
GBenign/Likely benign
DHODH
Single nucleotide variant
(intron variant)
Miller syndrome
+1 more
GConflicting classifications of pathogenicity
DHODH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DHODH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DHODH
(K7Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
DHODH, LOC126862390
(A341V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
DHODH
(R199C)
Single nucleotide variant
(missense variant)
Miller syndrome
GPathogenic
DHODH
(L204fs)
Deletion
(frameshift variant)
Miller syndrome
GPathogenic
DHODH
(R244W)
Single nucleotide variant
(missense variant)
Miller syndrome
GPathogenic
DHODH
(G202D)
Single nucleotide variant
(missense variant)
Miller syndrome
GPathogenic
DHODH
(G202A)
Single nucleotide variant
(missense variant)
Miller syndrome
GPathogenic
DHODH
(G152R)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GUncertain significance
DHODH
(G19E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHODH
(R135C)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GPathogenic/Likely pathogenic
DHODH, LOC126862390
(R346W)
Single nucleotide variant
(missense variant)
Miller syndrome
+1 more
GLikely pathogenic
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