ClinVar (all) for Orgtrack (Select 508061) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1120019	NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)	SBF1 (G1064E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1065826	NM_002972.4(SBF1):c.2288G>A (p.Arg763His)	SBF1 (R763H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3	GLikely pathogenic