"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SBF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789362	NM_002972.4(SBF1):c.5604T>C (p.Val1868=)	SBF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B3 +1 more	GBenign/Likely benign
Select item 1305353	NM_002972.4(SBF1):c.4037G>A (p.Arg1346His)	SBF1 (R1321H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374474	NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr)	SBF1 (A1258T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1315194	NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu)	SBF1 (S1096L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3 +2 more	GUncertain significance
Select item 1388035	NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser)	SBF1 (T1023S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3 +2 more	GUncertain significance
Select item 374671	NM_002972.4(SBF1):c.2605G>A (p.Val869Met)	SBF1 (V869M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1433181	NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp)	SBF1 (R507W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3 +1 more	GUncertain significance

ClinVar