"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 795023	NM_030962.4(SBF2):c.5169T>C (p.Asn1723=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 917247	NM_030962.4(SBF2):c.5043A>G (p.Gln1681=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 383688	NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 216777	NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)	LOC105369149, SBF2 +1 more (E1674del +2 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 397621	NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)	LOC105369149, SBF2 +1 more (K1629del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 697594	NM_030962.4(SBF2):c.4947G>A (p.Leu1649=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 476934	NM_030962.4(SBF2):c.4799C>T (p.Thr1600Ile)	LOC105369149, SBF2 +1 more (T1600I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 306580	NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)	LOC105369149, SBF2 +1 more (K1578R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 381819	NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val)	SBF2, SBF2-AS1 +1 more (I1565V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1337209	NM_030962.4(SBF2):c.4266C>T (p.Ser1422=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign