C3695063[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618865	NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)	SBF1 (Q1655H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3 +2 more	GUncertain significance
Select item 1033958	NM_002972.4(SBF1):c.4834G>A (p.Val1612Met)	SBF1 (V1587M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1030608	NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg)	SBF1 (G980R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3	GUncertain significance
Select item 1033556	NM_002972.4(SBF1):c.2763A>G (p.Ala921=)	SBF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B3 +1 more	GConflicting classifications of pathogenicity
Select item 1030607	NM_002972.4(SBF1):c.1696G>T (p.Val566Leu)	SBF1 (V566L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3 +1 more	GUncertain significance
Select item 1030606	NM_002972.4(SBF1):c.161G>A (p.Trp54Ter)	SBF1 (W54*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B3	GLikely pathogenic

ClinVar