ClinVar (all) for Orgtrack (Select 507673) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1722580	NM_001458.5(FLNC):c.3551G>T (p.Gly1184Val)	FLNC (G1184V)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy	GUncertain significance
Select item 1700686	NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)	RTEL1, RTEL1-TNFRSF6B (D231Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 1700685	NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)	KCNH8 (Y100H)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 1691820	NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)	VPS13A (M3049R +1 more)	Single nucleotide variant	Chorea-acanthocytosis	GLikely pathogenic
Select item 803482	NM_000371.4(TTR):c.277A>G (p.Ile93Val)	TTR (I93V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +1 more	GPathogenic/Likely pathogenic
Select item 373362	NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter)	VPS13A (R267*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic

ClinVar