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Links from MedGen

Items: 1 to 100 of 666

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Deletion
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(I409T +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(T334S +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(V254I)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(G558D +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(T199I +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(R689H +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(M477V +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(L48W)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(P478H +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Deletion
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(D469V +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(R465W +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN, LOC126861970
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(Y395C +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(H271D)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(T273R)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(R387C +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(P338L +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(M127T +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(D167E +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(G461V +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(D399H +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(R617C +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(M318I +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(T198I +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(splice acceptor variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely pathogenic
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(L116Q +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(splice donor variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely pathogenic
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(K151E +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(I7S)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(E282* +2 more)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPathogenic
GPHN
(N38D)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(P92A)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN, LOC126861970
(P671R +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(G223S +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(A369P +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Deletion
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(N121D +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(G258C)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(I262V)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN, LOC126861970
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(F247L)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(splice donor variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely pathogenic
GPHN
(D422V +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(S305I +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(I344N +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(C212Y +1 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN
(K632* +7 more)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPathogenic
GPHN
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
(P92S)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Deletion
(splice acceptor variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely pathogenic
GPHN
(I248fs +1 more)
Microsatellite
(frameshift variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GPathogenic
GPHN
(G408V +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN, LOC126861970
(V648L +7 more)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GUncertain significance
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