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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOA, LOC112694756
(H21Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
+1 more
GUncertain significance
LOC112694756, ALDOA
(E108G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(A66del +1 more)
Deletion
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(A142V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(V105L +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
(N169S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
+1 more
GConflicting classifications of pathogenicity
ALDOA, LOC112694756
(R173C +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
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
(V267L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
ALDOA, LOC112694756
(H246Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
ALDOA, LOC112694756
(V254I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ALDOA, LOC112694756
(R259C +1 more)
Single nucleotide variant
(3 prime UTR 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
(A323S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
ALDOA, LOC112694756
(E327K +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
(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
(L337V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
HNSHA due to aldolase A deficiency
GUncertain significance
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