"Baylor Genetics"[submitter] AND "SBF2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665565	NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)	LOC105369149, SBF2 +1 more (I1789V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1029987	NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)	LOC105369149, SBF2 +1 more (Y1733C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 426520	NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)	SBF2-AS1, SBF2 +1 more (S1685W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 566427	NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)	LOC105369149, SBF2 +1 more (K1602R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 848712	NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)	SBF2, LOC101928008 (P866T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 543363	NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)	LOC101928008, SBF2 (A632T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic

ClinVar