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Links from MedGen

Items: 1 to 100 of 223

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112694756, ALDOA
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
LOC112694756, ALDOA
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Duplication
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(L117fs +1 more)
Deletion
(frameshift variant +1 more)
HNSHA due to aldolase A deficiency
GPathogenic
ALDOA, LOC112694756
(S336T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(V254L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(T52I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(D68N +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
LOC112694756, ALDOA
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(A332T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(L333fs +1 more)
Deletion
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(E108G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(L337V +1 more)
Single nucleotide variant
(missense variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(N283S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(A308V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
LOC112694756, ALDOA
(K318E +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(R173H +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(K330R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
LOC112694756, ALDOA
(T255A +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(synonymous variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(R258H +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(E327K +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(P115S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(synonymous variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(A163T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(R123H +1 more)
Single nucleotide variant
(missense variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
LOC112694756, ALDOA
(R134C +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(R331Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(H238Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(A212V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(A20T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(V151L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(V113M +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(G103S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(T106A +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(Y214C +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
LOC112694756, ALDOA
(R312C +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(I101T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(L375P +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(G175D +1 more)
Single nucleotide variant
(missense variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
LOC112694756, ALDOA
(K342E +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GLikely benign
ALDOA, LOC112694756
(V267L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
LOC112694756, ALDOA
(V241M +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
Single nucleotide variant
(intron variant)
HNSHA due to aldolase A deficiency
GLikely benign
LOC112694756, ALDOA
(A61T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(A264fs +1 more)
Deletion
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
LOC112694756, ALDOA
(M287I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
LOC112694756, ALDOA
(A363V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
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