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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASK
Single nucleotide variant
(synonymous variant)
Intellectual disability, CASK-related, X-linked
+4 more
GLikely benign
CASK
(Y282*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
+2 more
GPathogenic
G6PD
(R463H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
G6PD
(R459L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
G6PD
(R454C +1 more)
Single nucleotide variant
(missense variant)
Malaria, susceptibility to
+3 more
GPathogenic
G6PD
(G447R +1 more)
Single nucleotide variant
(missense variant)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+2 more
GPathogenic/Likely pathogenic
G6PD
(A335T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
G6PD
(V291M +1 more)
Single nucleotide variant
(missense variant)
G6PD deficient hemolytic anemia
+5 more
GPathogenic/Likely pathogenic
G6PD
(D282H +1 more)
Single nucleotide variant
(missense variant)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+4 more
GConflicting classifications of pathogenicity
G6PD
(S188F +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
G6PD
(N165D +1 more)
Single nucleotide variant
(missense variant)
Malaria, susceptibility to
+3 more
GPathogenic/Likely pathogenic
G6PD
(G163S +1 more)
Single nucleotide variant
(missense variant)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+4 more
GPathogenic/Likely pathogenic
G6PD
(G131V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
G6PD
(I48T +1 more)
Single nucleotide variant
(missense variant)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+3 more
GPathogenic/Likely pathogenic
G6PD, IKBKG
(H32R +1 more)
Single nucleotide variant
(missense variant +1 more)
Early-onset coronary artery disease
+4 more
GPathogenic/Likely pathogenic
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