ClinVar for MedGen (Select 388099) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189841	NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)	SDHC (G75D +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GPathogenic/Likely pathogenic
Select item 189840	NM_003001.5(SDHC):c.6del (p.Ala3fs)	SDHC (A3fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 189839	NM_004168.4(SDHA):c.295C>T (p.His99Tyr)	SDHA (H99Y)	Single nucleotide variant (missense variant)	Carney triad	GLikely pathogenic
Select item 183814	NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	SDHB (I127S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic/Likely pathogenic
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1GG +9 more	GPathogenic/Likely pathogenic
Select item 7244	NM_003001.5(SDHC):c.405+1G>A	SDHC	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 3 +1 more	GPathogenic

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