"Mendelics"[submitter] AND "SBF2-AS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802656	NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)	LOC105369149, SBF2 +1 more (Q1735* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B2	GPathogenic
Select item 1686137	NM_030962.4(SBF2):c.4877del (p.Pro1626fs)	LOC105369149, SBF2 +1 more (P1583fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B2	GPathogenic