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

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Items: 30

	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
Select item 382124	NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)	SBF2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 514657	NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)	SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 703798	NM_030962.4(SBF2):c.3979-4G>A	SBF2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 138965	NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)	SBF2 (Q1216E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +3 more	GBenign
Select item 3056798	NM_030962.4(SBF2):c.3618T>G (p.Val1206=)	SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder	GLikely benign
Select item 3061004	NM_030962.4(SBF2):c.3291C>T (p.Thr1097=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder	GLikely benign
Select item 246062	NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)	LOC101928008, SBF2 (T1097N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 448239	NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)	LOC101928008, SBF2 (Q1019L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 700985	NM_030962.4(SBF2):c.2787A>T (p.Gly929=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 194989	NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	LOC101928008, SBF2 (G775S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +6 more	GBenign/Likely benign
Select item 1025647	NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys)	LOC101928008, SBF2 (E719K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1108101	NM_030962.4(SBF2):c.2112T>A (p.Pro704=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder +1 more	GLikely benign
Select item 516031	NM_030962.4(SBF2):c.1812C>T (p.Asp604=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 2629398	NM_030962.4(SBF2):c.1762C>T (p.Leu588Phe)	SBF2 (L545F +2 more)	Single nucleotide variant (missense variant)	SBF2-related disorder	GUncertain significance
Select item 306607	NM_030962.4(SBF2):c.1509A>G (p.Glu503=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +6 more	GConflicting classifications of pathogenicity
Select item 862942	NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)	SBF2 (P470T +1 more)	Single nucleotide variant (missense variant)	SBF2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3054487	NM_030962.4(SBF2):c.960A>G (p.Gln320=)	SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder	GLikely benign
Select item 3036534	NM_030962.4(SBF2):c.948A>G (p.Leu316=)	SBF2	Single nucleotide variant (synonymous variant)	SBF2-related disorder	GLikely benign
Select item 516375	NM_030962.4(SBF2):c.513+18A>T	SBF2	Single nucleotide variant (intron variant)	SBF2-related disorder +3 more	GLikely benign

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Items: 30