C5436934[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 412510	NM_003002.4(SDHD):c.148C>T (p.His50Tyr)	SDHD (H50Y)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +7 more	GUncertain significance
Select item 820002	NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)	SDHD (S20P +1 more)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 6896	NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	SDHD (P81L +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 1 +9 more	GPathogenic/Likely pathogenic
Select item 212145	NM_003002.4(SDHD):c.312C>T (p.His104=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	not provided +9 more	GBenign/Likely benign
Select item 452309	NM_003002.4(SDHD):c.315-1G>A	SDHD	Single nucleotide variant (splice acceptor variant)	Carney-Stratakis syndrome +4 more	GLikely pathogenic
Select item 6912	NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	SDHD (D113fs +2 more)	Deletion (frameshift variant +2 more)	Paragangliomas 1 +7 more	GPathogenic
Select item 1444211	NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)	SDHD (Y105C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Pheochromocytoma +6 more	GUncertain significance

ClinVar