"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 216777	NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)	SBF2, SBF2-AS1 +1 more (E1674del +2 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 578429	NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu)	LOC105369149, SBF2 +1 more (F1556L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 663998	NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)	SBF2, SBF2-AS1 (P1487S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +2 more	GUncertain significance
Select item 1106207	NM_030962.4(SBF2):c.4416C>T (p.Phe1472=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 618868	NM_030962.4(SBF2):c.3976A>C (p.Arg1326=)	SBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 246374	NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)	SBF2 (I1277M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 811653	NM_030962.4(SBF2):c.3794-20C>T	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign
Select item 393039	NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala)	SBF2 (T1192A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 448241	NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly)	LOC101928008, SBF2 (R1145G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 138964	NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)	LOC101928008, SBF2 (L1098V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
Select item 246062	NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)	LOC101928008, SBF2 (T1097N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 476922	NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)	LOC101928008, SBF2 (I1055V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 306587	NM_030962.4(SBF2):c.3111-6T>C	SBF2, LOC101928008	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 936790	NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser)	LOC101928008, SBF2 (N965S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 306592	NM_030962.4(SBF2):c.2850C>T (p.Ile950=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 418588	NM_030962.4(SBF2):c.2611-35AATC[6]	LOC101928008, SBF2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 700248	NM_030962.4(SBF2):c.2436C>T (p.Ala812=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GLikely benign
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 381048	NM_030962.4(SBF2):c.2319G>A (p.Ala773=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +5 more	GLikely benign
Select item 306600	NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)	LOC101928008, SBF2 (Q733E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GConflicting classifications of pathogenicity
Select item 429748	NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)	LOC101928008, SBF2 (C656S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +5 more	GUncertain significance
Select item 543460	NM_030962.4(SBF2):c.1893C>T (p.Ala631=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GLikely benign
Select item 2921152	NM_030962.4(SBF2):c.1863T>C (p.Asp621=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2	GLikely benign
Select item 220575	NM_030962.4(SBF2):c.1173A>G (p.Ala391=)	SBF2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
Select item 378499	NM_030962.4(SBF2):c.513+17G>C	SBF2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign

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Items: 26