Sasa hainanensis - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 5625	NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	TINF2 (R282H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 5627	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	TINF2 (R282C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 31542	NM_001099274.3(TINF2):c.839del (p.Lys280fs)	TINF2 (K245fs +1 more)	Deletion (frameshift variant)	Revesz syndrome	GPathogenic
Select item 31543	NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)	TINF2 (Q271* +1 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 3	GPathogenic
Select item 31541	NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter)	TINF2 (Q269* +1 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 3	GPathogenic
Select item 449512	NM_000546.6(TP53):c.724T>C (p.Cys242Arg)	TP53 (C110R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity

ClinVar