"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 704942	NM_030962.4(SBF2):c.5526C>A (p.Ile1842=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 571350	NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)	SBF2, SBF2-AS1 (C1828Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 917253	NM_030962.4(SBF2):c.5452-3T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	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 +2 more	GLikely benign
Select item 476938	NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)	SBF2, SBF2-AS1 +1 more (M1804V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917258	NM_030962.4(SBF2):c.5277T>G (p.Gly1759=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 306577	NM_030962.4(SBF2):c.5231+14C>T	SBF2, SBF2-AS1 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign
Select item 220725	NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)	LOC105369149, SBF2 +1 more (R1686S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 917247	NM_030962.4(SBF2):c.5043A>G (p.Gln1681=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 917190	NM_030962.4(SBF2):c.5038-9C>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 383688	NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)	SBF2-AS1, LOC105369149 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 216777	NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)	LOC105369149, SBF2 +1 more (E1674del +2 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 749743	NM_030962.4(SBF2):c.5007G>A (p.Val1669=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 916836	NM_030962.4(SBF2):c.4981C>G (p.Gln1661Glu)	LOC105369149, SBF2 +1 more (Q1661E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 138966	NM_030962.4(SBF2):c.4933-15T>C	SBF2, SBF2-AS1 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign
Select item 476935	NM_030962.4(SBF2):c.4809C>T (p.His1603=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 566427	NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)	LOC105369149, SBF2 +1 more (K1602R +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 917254	NM_030962.4(SBF2):c.4758G>A (p.Glu1586=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 306581	NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)	LOC105369149, SBF2 +1 more (N1571S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 476932	NM_030962.4(SBF2):c.4687T>C (p.Leu1563=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 917186	NM_030962.4(SBF2):c.4635T>A (p.Ile1545=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 261940	NM_030962.4(SBF2):c.4571-6C>T	SBF2-AS1, LOC105369149 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign
Select item 917250	NM_030962.4(SBF2):c.4539C>T (p.Leu1513=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 306582	NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 306583	NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)	SBF2, SBF2-AS1 (R1508C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 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 4 +2 more	GUncertain significance
Select item 916935	NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr)	SBF2, SBF2-AS1 (N1462Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 916939	NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg)	SBF2, SBF2-AS1 (K1452R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 916839	NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn)	SBF2, SBF2-AS1 (K1444N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917187	NM_030962.4(SBF2):c.4290C>T (p.Pro1430=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign

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Items: 30