"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SBF2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385071	NM_030962.4(SBF2):c.5037+12A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 246374	NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)	SBF2 (I1277M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 216776	NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)	SBF2 (R1275H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 429748	NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)	LOC101928008, SBF2 (C656S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1045339	NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)	SBF2 (R500W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1363900	NM_030962.4(SBF2):c.854A>G (p.His285Arg)	SBF2 (H285R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 378499	NM_030962.4(SBF2):c.513+17G>C	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign

ClinVar