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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ, SDHC
Single nucleotide variant
Carney-Stratakis syndrome
+11 more
GBenign
SDHC
(L4P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
(L22F)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
SDHC
(R40Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 3
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SDHC
(A66V +5 more)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+4 more
GConflicting classifications of pathogenicity
SDHC
(H122Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 3
GUncertain significance
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