"Illumina Laboratory Services, Illumina"[submitter] AND "SBF2-AS1"[gen - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306550	NM_030962.4(SBF2):c.*1686G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306551	NM_030962.4(SBF2):c.*1619A>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 306552	NM_030962.4(SBF2):c.*1515G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 882881	NM_030962.4(SBF2):c.*1495T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306553	NM_030962.4(SBF2):c.*1441C>T	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306554	NM_030962.4(SBF2):c.*1439C>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306555	NM_030962.4(SBF2):c.*1413A>G	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 882882	NM_030962.4(SBF2):c.*1405T>C	SBF2-AS1, SBF2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306556	NM_030962.4(SBF2):c.*1399T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 306557	NM_030962.4(SBF2):c.*1364C>T	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 883672	NM_030962.4(SBF2):c.*1315A>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306558	NM_030962.4(SBF2):c.*1255G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306559	NM_030962.4(SBF2):c.*1144A>G	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 883673	NM_030962.4(SBF2):c.*1091G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GLikely benign
Select item 883674	NM_030962.4(SBF2):c.*963C>T	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306560	NM_030962.4(SBF2):c.*882T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306561	NM_030962.4(SBF2):c.*875G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881330	NM_030962.4(SBF2):c.*731T>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306562	NM_030962.4(SBF2):c.*730G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306563	NM_030962.4(SBF2):c.*631T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881331	NM_030962.4(SBF2):c.*608G>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306564	NM_030962.4(SBF2):c.*514C>T	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 306565	NM_030962.4(SBF2):c.*480G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881332	NM_030962.4(SBF2):c.*447A>T	SBF2-AS1, SBF2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881776	NM_030962.4(SBF2):c.*418T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306567	NM_030962.4(SBF2):c.*375G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306566	NM_030962.4(SBF2):c.*375G>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881777	NM_030962.4(SBF2):c.*305A>G	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306568	NM_030962.4(SBF2):c.*291C>T	SBF2-AS1, SBF2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GBenign
Select item 306569	NM_030962.4(SBF2):c.*177A>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 881778	NM_030962.4(SBF2):c.*154C>T	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306570	NM_030962.4(SBF2):c.*112G>A	SBF2-AS1, SBF2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GLikely benign
Select item 882926	NM_030962.4(SBF2):c.*78G>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306571	NM_030962.4(SBF2):c.*51T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 306572	NM_030962.4(SBF2):c.*40A>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306573	NM_030962.4(SBF2):c.*19G>A	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306574	NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr)	SBF2, SBF2-AS1 (A1835T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306575	NM_030962.4(SBF2):c.5296G>A (p.Val1766Ile)	LOC105369149, SBF2 +1 more (V1766I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306576	NM_030962.4(SBF2):c.5232-7C>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
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 883721	NM_030962.4(SBF2):c.5231+13A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 883722	NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly)	LOC105369149, SBF2 +1 more (R1727G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 883723	NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu)	LOC105369149, SBF2 +1 more (G1712E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
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 632177	NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter)	LOC105369149, SBF2 +1 more (Q1681* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
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 type 4 +6 more	GConflicting classifications of pathogenicity
Select item 71400	NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys)	LOC105369149, SBF2 +1 more (R1679C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +2 more	GUncertain significance
Select item 696379	NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 306578	NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
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 645027	NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 306579	NM_030962.4(SBF2):c.4931G>A (p.Ser1644Asn)	LOC105369149, SBF2 +1 more (S1644N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881382	NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala)	LOC105369149, SBF2 +1 more (S1609A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306580	NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)	LOC105369149, SBF2 +1 more (K1578R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 306581	NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)	LOC105369149, SBF2 +1 more (N1571S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 426528	NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)	SBF2, SBF2-AS1 (L1521F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 +4 more	GUncertain significance

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Items: 59