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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCFC1
(Q1776H +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
+2 more
GConflicting classifications of pathogenicity
HCFC1
(N1439H)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GUncertain significance
HCFC1
(T1114M)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
+1 more
GConflicting classifications of pathogenicity
HCFC1
(T241M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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