ClinVar for MedGen (Select 346869) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25053551.	NM_030962.4(SBF2):c.815dup (p.Ile273fs) GRCh37: Chr11:10022506-10022507 GRCh38: Chr11:10000959-10000960	SBF2	I273fs	Charcot-Marie-Tooth disease type 4B2	Likely pathogenic (May 4, 2023)	criteria provided, single submitter
Select item 16861372.	NM_030962.4(SBF2):c.4877del (p.Pro1626fs) GRCh37: Chr11:9810711 GRCh38: Chr11:9789164	LOC105369149, SBF2, SBF2-AS1	P1583fs, P1626fs, P1658fs	Charcot-Marie-Tooth disease type 4B2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16751273.	NM_030962.4(SBF2):c.3111-3T>C GRCh37: Chr11:9864320 GRCh38: Chr11:9842773	LOC101928008, SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13639004.	NM_030962.4(SBF2):c.854A>G (p.His285Arg) GRCh37: Chr11:10022468 GRCh38: Chr11:10000921	SBF2	H285R	Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13235525.	NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter) GRCh37: Chr11:9879818 GRCh38: Chr11:9858271	LOC101928008, SBF2	Y642, Y685	Charcot-Marie-Tooth disease type 4B2	Pathogenic (Mar 17, 2020)	criteria provided, single submitter
Select item 11845126.	NM_030962.4(SBF2):c.2215G>A (p.Glu739Lys) GRCh37: Chr11:9878153 GRCh38: Chr11:9856606	LOC101928008, SBF2	E696K, E739K	Charcot-Marie-Tooth disease type 4B2	Likely pathogenic	no assertion criteria provided
Select item 11062077.	NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) GRCh37: Chr11:9829574 GRCh38: Chr11:9808027	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Likely benign (Dec 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 10486018.	NM_030962.4(SBF2):c.2549T>C (p.Met850Thr) GRCh37: Chr11:9874284 GRCh38: Chr11:9852737	LOC101928008, SBF2	M807T, M850T	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Dec 1, 2020)	criteria provided, single submitter
Select item 10453399.	NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) GRCh37: Chr11:9989990 GRCh38: Chr11:9968443	SBF2	R500W, R457W	not provided, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102998710.	NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys) GRCh37: Chr11:9806705 GRCh38: Chr11:9785158	LOC105369149, SBF2, SBF2-AS1	Y1733C, Y1765C, Y1690C	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Mar 13, 2019)	criteria provided, single submitter
Select item 98277711.	NM_030962.4(SBF2):c.161G>A (p.Trp54Ter) GRCh37: Chr11:10064509 GRCh38: Chr11:10042962	SBF2	W54*	Charcot-Marie-Tooth disease type 4B2	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 93679012.	NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) GRCh37: Chr11:9868543 GRCh38: Chr11:9846996	LOC101928008, SBF2	N965S, N922S	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93065813.	NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs) GRCh37: Chr11:9829658-9829659 GRCh38: Chr11:9808111-9808112	SBF2, SBF2-AS1	K1444fs, K1401fs, K1476fs	Charcot-Marie-Tooth disease type 4B2	Likely pathogenic (Feb 10, 2020)	criteria provided, single submitter
Select item 88382814.	NM_030962.4(SBF2):c.1413T>A (p.His471Gln) GRCh37: Chr11:9990075 GRCh38: Chr11:9968528	SBF2	H471Q, H428Q	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88372315.	NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu) GRCh37: Chr11:9806768 GRCh38: Chr11:9785221	SBF2, LOC105369149, SBF2-AS1	G1712E, G1669E, G1744E	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88372216.	NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly) GRCh37: Chr11:9806724 GRCh38: Chr11:9785177	LOC105369149, SBF2, SBF2-AS1	R1727G, R1684G, R1759G	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88372117.	NM_030962.4(SBF2):c.5231+13A>G GRCh37: Chr11:9806659 GRCh38: Chr11:9785112	LOC105369149, SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88367418.	NM_030962.4(SBF2):c.*963C>T GRCh37: Chr11:9801002 GRCh38: Chr11:9779455	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88367319.	NM_030962.4(SBF2):c.*1091G>A GRCh37: Chr11:9800874 GRCh38: Chr11:9779327	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88367220.	NM_030962.4(SBF2):c.*1315A>C GRCh37: Chr11:9800650 GRCh38: Chr11:9779103	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88305021.	NM_030962.4(SBF2):c.1861-6T>C GRCh37: Chr11:9917564 GRCh38: Chr11:9896017	LOC101928008, SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88304922.	NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr) GRCh37: Chr11:9917522 GRCh38: Chr11:9895975	LOC101928008, SBF2	A633T, A590T	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88292623.	NM_030962.4(SBF2):c.*78G>C GRCh37: Chr11:9801887 GRCh38: Chr11:9780340	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88288224.	NM_030962.4(SBF2):c.*1405T>C GRCh37: Chr11:9800560 GRCh38: Chr11:9779013	SBF2-AS1, SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88288125.	NM_030962.4(SBF2):c.*1495T>C GRCh37: Chr11:9800470 GRCh38: Chr11:9778923	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88177826.	NM_030962.4(SBF2):c.*154C>T GRCh37: Chr11:9801811 GRCh38: Chr11:9780264	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88177727.	NM_030962.4(SBF2):c.*305A>G GRCh37: Chr11:9801660 GRCh38: Chr11:9780113	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88177628.	NM_030962.4(SBF2):c.*418T>C GRCh37: Chr11:9801547 GRCh38: Chr11:9780000	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88144329.	NM_030962.4(SBF2):c.2610+11A>G GRCh37: Chr11:9874212 GRCh38: Chr11:9852665	LOC101928008, SBF2		Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Conflicting interpretations of pathogenicity (Jun 13, 2021)	criteria provided, conflicting interpretations
Select item 88144230.	NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu) GRCh37: Chr11:9868574 GRCh38: Chr11:9847027	LOC101928008, SBF2	K955E, K912E	Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88144131.	NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile) GRCh37: Chr11:9867219 GRCh38: Chr11:9845672	SBF2, LOC101928008	M1001I, M958I	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88138232.	NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala) GRCh37: Chr11:9810763 GRCh38: Chr11:9789216	LOC105369149, SBF2, SBF2-AS1	S1609A, S1566A, S1641A	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88133233.	NM_030962.4(SBF2):c.*447A>T GRCh37: Chr11:9801518 GRCh38: Chr11:9779971	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88133134.	NM_030962.4(SBF2):c.*608G>C GRCh37: Chr11:9801357 GRCh38: Chr11:9779810	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88133035.	NM_030962.4(SBF2):c.*731T>A GRCh37: Chr11:9801234 GRCh38: Chr11:9779687	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88018036.	NM_030962.4(SBF2):c.409C>G (p.Leu137Val) GRCh37: Chr11:10051416 GRCh38: Chr11:10029869	SBF2	L137V	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88017937.	NM_030962.4(SBF2):c.440G>A (p.Ser147Asn) GRCh37: Chr11:10051385 GRCh38: Chr11:10029838	SBF2	S147N	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88017838.	NM_030962.4(SBF2):c.513+5A>G GRCh37: Chr11:10051307 GRCh38: Chr11:10029760	SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87895939.	NM_030962.4(SBF2):c.810G>A (p.Thr270=) GRCh37: Chr11:10022512 GRCh38: Chr11:10000965	SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 87895840.	NM_030962.4(SBF2):c.1296+13T>C GRCh37: Chr11:10013949 GRCh38: Chr11:9992402	SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 87827141.	NM_030962.4(SBF2):c.-64C>T GRCh37: Chr11:10315680 GRCh38: Chr11:10294133	SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87827042.	NM_030962.4(SBF2):c.-49G>A GRCh37: Chr11:10315665 GRCh38: Chr11:10294118	SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87826943.	NM_030962.4(SBF2):c.-27C>T GRCh37: Chr11:10315643 GRCh38: Chr11:10294096	SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 86294244.	NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) GRCh37: Chr11:9990080 GRCh38: Chr11:9968533	SBF2	P470T, P427T	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84871245.	NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr) GRCh37: Chr11:9874237 GRCh38: Chr11:9852690	SBF2, LOC101928008	P866T, P823T	Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84430446.	NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys) GRCh37: Chr11:9838554 GRCh38: Chr11:9817007	SBF2	R1271C, R1228C, R1303C	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81165347.	NM_030962.4(SBF2):c.3794-20C>T GRCh37: Chr11:9838591 GRCh38: Chr11:9817044	SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4B2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80265648.	NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter) GRCh37: Chr11:9806700 GRCh38: Chr11:9785153	LOC105369149, SBF2, SBF2-AS1	Q1735, Q1692, Q1767*	Charcot-Marie-Tooth disease type 4B2	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 70087349.	NM_030962.4(SBF2):c.48G>A (p.Glu16=) GRCh37: Chr11:10315569 GRCh38: Chr11:10294022	SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 69637950.	NM_030962.4(SBF2):c.5004C>G (p.Thr1668=) GRCh37: Chr11:9809214 GRCh38: Chr11:9787667	LOC105369149, SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Aug 27, 2022)	criteria provided, conflicting interpretations
Select item 67056351.	NM_030962.4(SBF2):c.4156-46C>T GRCh37: Chr11:9830595 GRCh38: Chr11:9809048	SBF2, SBF2-AS1		not provided, Charcot-Marie-Tooth disease type 4B2	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67056252.	NM_030962.4(SBF2):c.3455+36C>T GRCh37: Chr11:9861009 GRCh38: Chr11:9839462	LOC101928008, SBF2		not provided, Charcot-Marie-Tooth disease type 4B2	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66556553.	NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val) GRCh37: Chr11:9803140 GRCh38: Chr11:9781593	LOC105369149, SBF2, SBF2-AS1	I1789V, I1746V, I1821V	Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66399854.	NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) GRCh37: Chr11:9817489 GRCh38: Chr11:9795942	SBF2, SBF2-AS1	P1487S, P1444S, P1519S	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64502755.	NM_030962.4(SBF2):c.4932T>C (p.Ser1644=) GRCh37: Chr11:9810656 GRCh38: Chr11:9789109	LOC105369149, SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63785456.	NM_030962.4(SBF2):c.4443+1G>C GRCh37: Chr11:9829546 GRCh38: Chr11:9807999	SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Oct 12, 2004)	no assertion criteria provided
Select item 63217757.	NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter) GRCh37: Chr11:9806862 GRCh38: Chr11:9785315	LOC105369149, SBF2, SBF2-AS1	Q1681, Q1638, Q1713*	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 63214558.	NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter) GRCh37: Chr11:10015497 GRCh38: Chr11:9993950	SBF2	R342*	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Oct 14, 2018)	criteria provided, single submitter
Select item 58762559.	NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) GRCh37: Chr11:9838430 GRCh38: Chr11:9816883	SBF2	R1312Q, R1269Q, R1344Q	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57924460.	NM_030962.4(SBF2):c.2457T>G (p.Ile819Met) GRCh37: Chr11:9875166 GRCh38: Chr11:9853619	LOC101928008, SBF2	I819M, I776M	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57086661.	NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) GRCh37: Chr11:9838478 GRCh38: Chr11:9816931	SBF2	S1296L, S1253L, S1328L	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56642762.	NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) GRCh37: Chr11:9810783 GRCh38: Chr11:9789236	LOC105369149, SBF2, SBF2-AS1	K1602R, K1559R, K1634R	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54348563.	NM_030962.4(SBF2):c.3582C>T (p.Leu1194=) GRCh37: Chr11:9853841 GRCh38: Chr11:9832294	SBF2		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 54346064.	NM_030962.4(SBF2):c.1893C>T (p.Ala631=) GRCh37: Chr11:9917526 GRCh38: Chr11:9895979	LOC101928008, SBF2		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4B2	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54336365.	NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr) GRCh37: Chr11:9917525 GRCh38: Chr11:9895978	LOC101928008, SBF2	A632T, A589T	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51823466.	NM_030962.4(SBF2):c.753-16T>A GRCh37: Chr11:10022585 GRCh38: Chr11:10001038	SBF2		Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51603167.	NM_030962.4(SBF2):c.1812C>T (p.Asp604=) GRCh37: Chr11:9983552 GRCh38: Chr11:9962005	SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 47693168.	NM_030962.4(SBF2):c.4515G>A (p.Val1505=) GRCh37: Chr11:9817433 GRCh38: Chr11:9795886	SBF2-AS1, SBF2		Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 47692269.	NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) GRCh37: Chr11:9864265 GRCh38: Chr11:9842718	LOC101928008, SBF2	I1055V, I1012V	not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45226970.	NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) GRCh37: Chr11:10051346 GRCh38: Chr11:10029799	SBF2	C160F	not provided, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44824171.	NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) GRCh37: Chr11:9861067 GRCh38: Chr11:9839520	LOC101928008, SBF2	R1145G, R1102G	not specified, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44823872.	NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) GRCh37: Chr11:9867186 GRCh38: Chr11:9845639	LOC101928008, SBF2		Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified, not provided	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42974873.	NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) GRCh37: Chr11:9879906 GRCh38: Chr11:9858359	SBF2, LOC101928008	C656S, C613S	not specified, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42652874.	NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) GRCh37: Chr11:9817385 GRCh38: Chr11:9795838	SBF2-AS1, SBF2	L1521F, L1478F, L1553F	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42652075.	NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp) GRCh37: Chr11:9806849 GRCh38: Chr11:9785302	SBF2, SBF2-AS1, LOC105369149	S1685W, S1642W, S1717W	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41858876.	NM_030962.4(SBF2):c.2611-35AATC[6] GRCh37: Chr11:9871780-9871781 GRCh38: Chr11:9850233-9850234	SBF2, LOC101928008		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2, not specified	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39762177.	NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) GRCh37: Chr11:9809202-9809204 GRCh38: Chr11:9787655-9787657	LOC105369149, SBF2, SBF2-AS1	K1629del, K1704del	not specified, not provided, Peripheral neuropathy, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39303978.	NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) GRCh37: Chr11:9853849 GRCh38: Chr11:9832302	SBF2	T1192A, T1149A	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2, not provided, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38507179.	NM_030962.4(SBF2):c.5037+12A>G GRCh37: Chr11:9809169 GRCh38: Chr11:9787622	LOC105369149, SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2, not specified, Charcot-Marie-Tooth disease type 4	Likely benign (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38368880.	NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) GRCh37: Chr11:9809181 GRCh38: Chr11:9787634	LOC105369149, SBF2, SBF2-AS1		Charcot-Marie-Tooth disease type 4B2, not specified, Charcot-Marie-Tooth disease type 4, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 38212481.	NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) GRCh37: Chr11:9834106 GRCh38: Chr11:9812559	SBF2		not specified, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Benign/Likely benign (Nov 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37849982.	NM_030962.4(SBF2):c.513+17G>C GRCh37: Chr11:10051295 GRCh38: Chr11:10029748	SBF2		Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, not provided	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30660783.	NM_030962.4(SBF2):c.1509A>G (p.Glu503=) GRCh37: Chr11:9989979 GRCh38: Chr11:9968432	SBF2		Charcot-Marie-Tooth disease type 4, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 30660684.	NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) GRCh37: Chr11:9989969 GRCh38: Chr11:9968422	SBF2	E507K, E464K	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30660585.	NM_030962.4(SBF2):c.1601-4C>G GRCh37: Chr11:9985433 GRCh38: Chr11:9963886	SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30660486.	NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) GRCh37: Chr11:9983565 GRCh38: Chr11:9962018	SBF2	R600Q, R557Q	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30660387.	NM_030962.4(SBF2):c.1971A>G (p.Val657=) GRCh37: Chr11:9879902 GRCh38: Chr11:9858355	LOC101928008, SBF2		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 30660288.	NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) GRCh37: Chr11:9879838 GRCh38: Chr11:9858291	LOC101928008, SBF2	E679K, E636K	Charcot-Marie-Tooth disease, not specified, not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30660189.	NM_030962.4(SBF2):c.2100+7G>A GRCh37: Chr11:9879766 GRCh38: Chr11:9858219	LOC101928008, SBF2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 30660090.	NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) GRCh37: Chr11:9878171 GRCh38: Chr11:9856624	LOC101928008, SBF2	Q733E, Q690E	not provided, Tip-toe gait, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 30659991.	NM_030962.4(SBF2):c.2397A>G (p.Thr799=) GRCh37: Chr11:9875226 GRCh38: Chr11:9853679	LOC101928008, SBF2		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Jul 27, 2021)	criteria provided, conflicting interpretations
Select item 30659892.	NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg) GRCh37: Chr11:9875149 GRCh38: Chr11:9853602	LOC101928008, SBF2	K825R, K782R	Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30659793.	NM_030962.4(SBF2):c.2537-5C>T GRCh37: Chr11:9874301 GRCh38: Chr11:9852754	LOC101928008, SBF2		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30659694.	NM_030962.4(SBF2):c.2598G>A (p.Pro866=) GRCh37: Chr11:9874235 GRCh38: Chr11:9852688	LOC101928008, SBF2		Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 30659595.	NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu) GRCh37: Chr11:9874233 GRCh38: Chr11:9852686	LOC101928008, SBF2	P867L, P824L	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30659396.	NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln) GRCh37: Chr11:9871707 GRCh38: Chr11:9850160	LOC101928008, SBF2	R890Q, R847Q	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30659297.	NM_030962.4(SBF2):c.2850C>T (p.Ile950=) GRCh37: Chr11:9868587 GRCh38: Chr11:9847040	LOC101928008, SBF2		Charcot-Marie-Tooth disease, not specified, not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30659198.	NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys) GRCh37: Chr11:9868567 GRCh38: Chr11:9847020	SBF2, LOC101928008	T957K, T914K	Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30659099.	NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu) GRCh37: Chr11:9867221 GRCh38: Chr11:9845674	LOC101928008, SBF2	M1001L, M958L	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 306589100.	NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn) GRCh37: Chr11:9867216 GRCh38: Chr11:9845669	LOC101928008, SBF2	K1002N, K959N	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, not provided	Uncertain significance (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts

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