"Baylor Genetics"[submitter] AND "SBF1"[gene] - ClinVar - NCBI

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Items: 9

	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
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic