"Eurofins Ntd Llc (ga)"[submitter] AND "SBF2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284267	NM_030962.4(SBF2):c.5451+2T>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 220725	NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)	SBF2, SBF2-AS1 +1 more (R1686S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GConflicting classifications of pathogenicity
Select item 476933	NM_030962.4(SBF2):c.4699-9C>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596951	NM_030962.4(SBF2):c.3410A>G (p.Tyr1137Cys)	LOC101928008, SBF2 (Y1137C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 194989	NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	LOC101928008, SBF2 (G775S +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait +6 more	GConflicting classifications of pathogenicity
Select item 194435	NM_030962.4(SBF2):c.1420T>C (p.Phe474Leu)	SBF2 (F474L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595278	NM_030962.4(SBF2):c.619+1G>A	SBF2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 500597	NM_030962.4(SBF2):c.87G>C (p.Gln29His)	SBF2 (Q29H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance