"PreventionGenetics, part of Exact Sciences"[submitter] AND "SBF2-AS1" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 701568	NM_030962.4(SBF2):c.5469T>C (p.Arg1823=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	SBF2-related disorder +1 more	GLikely benign
Select item 917185	NM_030962.4(SBF2):c.5451+8G>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 419286	NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)	SBF2, SBF2-AS1 +1 more (K1752fs +2 more)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic/Likely pathogenic
Select item 3055182	NM_030962.4(SBF2):c.5231+22G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	SBF2-related disorder	GLikely benign
Select item 306577	NM_030962.4(SBF2):c.5231+14C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
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)	Inborn genetic diseases +5 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 2635439	NM_030962.4(SBF2):c.4876C>G (p.Pro1626Ala)	LOC105369149, SBF2 +1 more (P1583A +3 more)	Single nucleotide variant (missense variant)	SBF2-related disorder	GUncertain significance
Select item 1604947	NM_030962.4(SBF2):c.4795C>T (p.Leu1599=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	SBF2-related disorder +1 more	GLikely benign
Select item 261940	NM_030962.4(SBF2):c.4571-6C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 3061237	NM_030962.4(SBF2):c.4444-9G>T	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	SBF2-related disorder	GLikely benign