SBF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
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 388939	NM_030962.4(SBF2):c.*20C>G	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
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 647949	NC_000011.10:g.(?_9780408)_(10042991_?)del	LOC101928008, LOC105369149 +4 more	Deletion	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2738404	NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1401242	NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val)	SBF2, SBF2-AS1 (A1806V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2601389	NM_030962.4(SBF2):c.5534G>A (p.Cys1845Tyr)	SBF2, SBF2-AS1 (C1857Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1038755	NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs)	SBF2, SBF2-AS1 (S1801fs +2 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 2850756	NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)	SBF2, SBF2-AS1 (K1806R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	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 664779	NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg)	SBF2, SBF2-AS1 (Q1833R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1747872	NM_030962.4(SBF2):c.5495G>A (p.Gly1832Glu)	SBF2, SBF2-AS1 (G1789E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 705112	NM_030962.4(SBF2):c.5493T>C (p.Asp1831=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 1371443	NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr)	SBF2, SBF2-AS1 (A1829T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 695857	NM_030962.4(SBF2):c.5484C>T (p.Cys1828=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1644889	NM_030962.4(SBF2):c.5472G>C (p.Val1824=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 732861	NM_030962.4(SBF2):c.5472G>A (p.Val1824=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1035398	NM_030962.4(SBF2):c.5470G>A (p.Val1824Met)	SBF2, SBF2-AS1 (V1856M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 864730	NM_030962.4(SBF2):c.5468G>A (p.Arg1823His)	SBF2, SBF2-AS1 (R1823H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	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 1671372	NM_030962.4(SBF2):c.5452-5T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1987279	NM_030962.4(SBF2):c.5452-13T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1593925	NM_030962.4(SBF2):c.5452-14A>G	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2197409	NM_030962.4(SBF2):c.5452-16T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1377186	NM_030962.4(SBF2):c.5452-18T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1186723	NM_030962.4(SBF2):c.5452-60C>T	LOC105369149, SBF2-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669272	NM_030962.4(SBF2):c.5452-165C>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196257	NM_030962.4(SBF2):c.5451+141G>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218486	NM_030962.4(SBF2):c.5451+109C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669271	NM_030962.4(SBF2):c.5451+102T>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1462330	NM_030962.4(SBF2):c.5451+14_5451+17del	LOC105369149, SBF2 +1 more	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 421526	NM_030962.4(SBF2):c.5451+10_5451+13dup	LOC105369149, SBF2 +1 more	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 2911434	NM_030962.4(SBF2):c.5451+10T>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	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 1351692	NM_030962.4(SBF2):c.5451+3_5451+6dup	LOC105369149, SBF2 +1 more	Duplication (splice donor variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 284267	NM_030962.4(SBF2):c.5451+2T>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1037506	NM_030962.4(SBF2):c.5440G>T (p.Ala1814Ser)	SBF2-AS1, LOC105369149 +1 more (A1814S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 944378	NM_030962.4(SBF2):c.5438A>C (p.Lys1813Thr)	LOC105369149, SBF2 +1 more (K1813T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 647764	NM_030962.4(SBF2):c.5437A>G (p.Lys1813Glu)	LOC105369149, SBF2 +1 more (K1813E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1039338	NM_030962.4(SBF2):c.5435A>G (p.Asp1812Gly)	LOC105369149, SBF2 +1 more (D1769G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 1013302	NM_030962.4(SBF2):c.5409C>T (p.Ser1803=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051513	NM_030962.4(SBF2):c.5400T>C (p.Ala1800=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2108417	NM_030962.4(SBF2):c.5399C>A (p.Ala1800Asp)	LOC105369149, SBF2 +1 more (A1757D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 861873	NM_030962.4(SBF2):c.5399C>T (p.Ala1800Val)	LOC105369149, SBF2 +1 more (A1800V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1361175	NM_030962.4(SBF2):c.5398G>A (p.Ala1800Thr)	LOC105369149, SBF2 +1 more (A1757T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 567313	NM_030962.4(SBF2):c.5375C>G (p.Ala1792Gly)	SBF2-AS1, LOC105369149 +1 more (A1792G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 476937	NM_030962.4(SBF2):c.5375C>T (p.Ala1792Val)	LOC105369149, SBF2 +1 more (A1792V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1134886	NM_030962.4(SBF2):c.5371C>T (p.Leu1791=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 665565	NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)	LOC105369149, SBF2 +1 more (I1789V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1717119	NM_030962.4(SBF2):c.5354G>A (p.Cys1785Tyr)	LOC105369149, SBF2 +1 more (C1742Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1404745	NM_030962.4(SBF2):c.5330A>G (p.Tyr1777Cys)	LOC105369149, SBF2 +1 more (Y1734C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 664980	NM_030962.4(SBF2):c.5324G>A (p.Arg1775His)	LOC105369149, SBF2 +1 more (R1775H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 843947	NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys)	LOC105369149, SBF2 +1 more (R1775C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1989841	NM_030962.4(SBF2):c.5320-9dup	LOC105369149, SBF2 +1 more	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 2720377	NM_030962.4(SBF2):c.5320-10T>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2732059	NM_030962.4(SBF2):c.5320-13C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 677040	NM_030962.4(SBF2):c.5320-209A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677064	NM_030962.4(SBF2):c.5319+113del	LOC105369149, SBF2 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 676976	NM_030962.4(SBF2):c.5319+52C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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