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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHD
(P42R +1 more)
Single nucleotide variant
(missense variant +2 more)
Paraganglioma
+4 more
GConflicting classifications of pathogenicity
SDHB
(G69V)
Single nucleotide variant
(missense variant)
Paraganglioma
+3 more
GPathogenic/Likely pathogenic
DDX46
(N939S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypospadias
+5 more
GUncertain significance
SDHB
(N248K)
Single nucleotide variant
(missense variant)
Paraganglioma
+4 more
GLikely pathogenic
SDHA
Deletion
(splice donor variant)
Paragangliomas 5
+7 more
GPathogenic/Likely pathogenic
SDHB
(R11H)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+9 more
GConflicting classifications of pathogenicity
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