ClinVar for MedGen (Select 346869) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 191

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236699	NM_030962.4(SBF2):c.620G>T (p.Gly207Val)	SBF2 (G207V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GPathogenic
Select item 3220937	NM_030962.4(SBF2):c.659C>G (p.Thr220Arg)	SBF2 (T220R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 3065064	NM_030962.4(SBF2):c.5290del (p.Trp1764fs)	LOC105369149, SBF2 +1 more (W1721fs +3 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
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 2691253	NM_030962.4(SBF2):c.862-7C>G	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 2665001	NM_030962.4(SBF2):c.2329del (p.Trp777fs)	LOC101928008, SBF2 (W734fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B2	GLikely pathogenic
Select item 2585540	NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)	SBF2 (P271L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 2505355	NM_030962.4(SBF2):c.815dup (p.Ile273fs)	SBF2 (I273fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4B2	GLikely pathogenic
Select item 1686137	NM_030962.4(SBF2):c.4877del (p.Pro1626fs)	SBF2, SBF2-AS1 +1 more (P1583fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B2	GPathogenic
Select item 1675127	NM_030962.4(SBF2):c.3111-3T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 1363900	NM_030962.4(SBF2):c.854A>G (p.His285Arg)	SBF2 (H285R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 1323552	NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter)	SBF2, LOC101928008 (Y642* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B2	GPathogenic
Select item 1184512	NM_030962.4(SBF2):c.2215G>A (p.Glu739Lys)	LOC101928008, SBF2 (E696K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GLikely pathogenic
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 1048601	NM_030962.4(SBF2):c.2549T>C (p.Met850Thr)	LOC101928008, SBF2 (M807T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 1045339	NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)	SBF2 (R500W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1029987	NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)	LOC105369149, SBF2 +1 more (Y1733C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 982777	NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)	SBF2 (W54*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B2	GLikely pathogenic
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 930658	NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs)	SBF2, SBF2-AS1 (K1444fs +2 more)	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4B2	GLikely pathogenic
Select item 883828	NM_030962.4(SBF2):c.1413T>A (p.His471Gln)	SBF2 (H471Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 883722	NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly)	LOC105369149, SBF2-AS1 +1 more (R1727G +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
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 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 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 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 883050	NM_030962.4(SBF2):c.1861-6T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 883049	NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)	LOC101928008, SBF2 (A633T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
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 882882	NM_030962.4(SBF2):c.*1405T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
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 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 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 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 881443	NM_030962.4(SBF2):c.2610+11A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 881442	NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)	LOC101928008, SBF2 (K955E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 881441	NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile)	LOC101928008, SBF2 (M1001I +1 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 881332	NM_030962.4(SBF2):c.*447A>T	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 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 880180	NM_030962.4(SBF2):c.409C>G (p.Leu137Val)	SBF2 (L137V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 880179	NM_030962.4(SBF2):c.440G>A (p.Ser147Asn)	SBF2 (S147N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 880178	NM_030962.4(SBF2):c.513+5A>G	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 878959	NM_030962.4(SBF2):c.810G>A (p.Thr270=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 878958	NM_030962.4(SBF2):c.1296+13T>C	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 878271	NM_030962.4(SBF2):c.-64C>T	LOC130005303, SBF2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 878270	NM_030962.4(SBF2):c.-49G>A	LOC130005303, SBF2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 878269	NM_030962.4(SBF2):c.-27C>T	LOC130005303, SBF2	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 862942	NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)	SBF2 (P470T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 856411	NM_030962.4(SBF2):c.3653-1G>A	SBF2	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GLikely pathogenic
Select item 848712	NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)	LOC101928008, SBF2 (P866T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 844304	NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)	SBF2 (R1271C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
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 802656	NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)	LOC105369149, SBF2 +1 more (Q1735* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B2	GPathogenic
Select item 700873	NM_030962.4(SBF2):c.48G>A (p.Glu16=)	LOC130005303, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
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 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 670563	NM_030962.4(SBF2):c.4156-46C>T	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 670562	NM_030962.4(SBF2):c.3455+36C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 665565	NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)	LOC105369149, SBF2 +1 more (I1789V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 645027	NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 644027	NM_030962.4(SBF2):c.5036G>A (p.Arg1679His)	LOC105369149, SBF2 +1 more (R1679H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 637854	NM_030962.4(SBF2):c.4443+1G>C	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease +1 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632145	NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter)	SBF2 (R342*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 587625	NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)	SBF2 (R1312Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 581159	NM_030962.4(SBF2):c.2081C>T (p.Ala694Val)	LOC101928008, SBF2 (A694V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 580538	NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)	LOC101928008, SBF2 (N808K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 579244	NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)	LOC101928008, SBF2 (I819M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 570866	NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)	SBF2 (S1296L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 566427	NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)	SBF2-AS1, LOC105369149 +1 more (K1602R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 543485	NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +2 more	GConflicting classifications of pathogenicity
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 543363	NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)	SBF2, LOC101928008 (A632T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 518234	NM_030962.4(SBF2):c.753-16T>A	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GBenign
Select item 516031	NM_030962.4(SBF2):c.1812C>T (p.Asp604=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 476931	NM_030962.4(SBF2):c.4515G>A (p.Val1505=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 476928	NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)	SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 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 452269	NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)	SBF2 (C160F)	Single nucleotide variant (missense variant)	not provided +2 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 448238	NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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 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 426520	NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)	LOC105369149, SBF2 +1 more (S1685W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 403857	NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)	SBF2 (V1330A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 397621	NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)	SBF2-AS1, LOC105369149 +1 more (K1629del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4B2 +5 more	GUncertain significance
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 385071	NM_030962.4(SBF2):c.5037+12A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 382124	NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign
Select item 381048	NM_030962.4(SBF2):c.2319G>A (p.Ala773=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely 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
Select item 306607	NM_030962.4(SBF2):c.1509A>G (p.Glu503=)	SBF2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 306606	NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)	SBF2 (E507K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +3 more	GUncertain significance
Select item 306605	NM_030962.4(SBF2):c.1601-4C>G	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance

<< First< Prev

Page of 2