ClinVar for Gene (Select 283104) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 410

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316251	NM_030962.4(SBF2):c.5065G>A (p.Gly1689Arg)	LOC105369149, SBF2 +1 more (G1646R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316249	NM_030962.4(SBF2):c.4843G>A (p.Ala1615Thr)	LOC105369149, SBF2 +1 more (A1615T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316247	NM_030962.4(SBF2):c.4802C>T (p.Pro1601Leu)	LOC105369149, SBF2 +1 more (P1601L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158018	NM_030962.4(SBF2):c.5062C>G (p.Pro1688Ala)	LOC105369149, SBF2 +1 more (P1653A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3061237	NM_030962.4(SBF2):c.4444-9G>T	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	SBF2-related disorder	GLikely benign
Select item 3055182	NM_030962.4(SBF2):c.5231+22G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	SBF2-related disorder	GLikely benign
Select item 3027375	NM_030962.4(SBF2):c.4774C>T (p.Pro1592Ser)	LOC105369149, SBF2 +1 more (P1549S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012078	NM_030962.4(SBF2):c.4710C>G (p.Pro1570=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2960159	NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)	SBF2, SBF2-AS1 (S1354fs +3 more)	Duplication (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2913941	NM_030962.4(SBF2):c.4713T>C (p.Asn1571=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2913889	NM_030962.4(SBF2):c.4702C>T (p.Leu1568=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	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 2907473	NM_030962.4(SBF2):c.4803C>A (p.Pro1601=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2899791	NM_030962.4(SBF2):c.4932+12G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2870465	NM_030962.4(SBF2):c.4570+14T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	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 2834873	NM_030962.4(SBF2):c.5037+11A>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2833349	NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2831932	NM_030962.4(SBF2):c.4699-1G>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2825740	NM_030962.4(SBF2):c.5139G>A (p.Glu1713=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2814365	NM_030962.4(SBF2):c.4933-1G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2787620	NM_030962.4(SBF2):c.4258-18A>T	SBF2, SBF2-AS1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2770455	NM_030962.4(SBF2):c.4926T>C (p.Leu1642=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2768807	NM_030962.4(SBF2):c.5022A>G (p.Glu1674=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2759628	NM_030962.4(SBF2):c.4968C>T (p.Ala1656=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2753543	NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)	SBF2, SBF2-AS1 (V1352F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2751408	NM_030962.4(SBF2):c.4443+13A>T	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2740043	NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)	SBF2, SBF2-AS1 (T1391I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2738676	NM_030962.4(SBF2):c.4156-4T>C	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
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 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 2730211	NM_030962.4(SBF2):c.5038-16G>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2728844	NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)	SBF2, SBF2-AS1 (Q1420* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2727193	NM_030962.4(SBF2):c.5038-18C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
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 2718591	NM_030962.4(SBF2):c.4570+19T>C	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2635439	NM_030962.4(SBF2):c.4876C>G (p.Pro1626Ala)	LOC105369149, SBF2 +1 more (P1583A +3 more)	Single nucleotide variant (missense variant)	SBF2-related disorder	GUncertain significance
Select item 2623329	NM_030962.4(SBF2):c.5054C>T (p.Ser1685Leu)	LOC105369149, SBF2 +1 more (S1697L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2335306	NM_030962.4(SBF2):c.4911T>G (p.Asp1637Glu)	LOC105369149, SBF2 +1 more (D1594E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253257	NM_030962.4(SBF2):c.5090C>T (p.Ser1697Phe)	LOC105369149, SBF2 +1 more (S1697F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251215	NM_030962.4(SBF2):c.4351C>T (p.His1451Tyr)	SBF2, SBF2-AS1 (H1451Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2188707	NM_030962.4(SBF2):c.4257+20T>C	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2180574	NM_030962.4(SBF2):c.4260G>T (p.Val1420=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2179592	NM_030962.4(SBF2):c.4983G>A (p.Gln1661=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2176210	NM_030962.4(SBF2):c.5319+13A>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2168117	NM_030962.4(SBF2):c.4443+14G>T	SBF2, SBF2-AS1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2167523	NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2164308	NM_030962.4(SBF2):c.4592G>A (p.Gly1531Glu)	SBF2, SBF2-AS1 +1 more (G1488E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2161240	NM_030962.4(SBF2):c.5192C>T (p.Thr1731Met)	LOC105369149, SBF2 +1 more (T1688M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2156225	NM_030962.4(SBF2):c.4443+19A>T	SBF2, SBF2-AS1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2153324	NM_030962.4(SBF2):c.5202C>T (p.Ser1734=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2148968	NM_030962.4(SBF2):c.5232-4C>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2148333	NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2144893	NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2143887	NM_030962.4(SBF2):c.4817C>G (p.Ser1606Cys)	LOC105369149, SBF2 +1 more (S1563C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2132985	NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2125446	NM_030962.4(SBF2):c.4571-18G>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron 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 2105998	NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)	SBF2, SBF2-AS1 (S1405L +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2098430	NM_030962.4(SBF2):c.4699-16C>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2094515	NM_030962.4(SBF2):c.5118C>G (p.Leu1706=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2082218	NM_030962.4(SBF2):c.4161C>T (p.His1387=)	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2078950	NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)	SBF2, SBF2-AS1 (L1364F +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2076099	NM_030962.4(SBF2):c.5167A>G (p.Asn1723Asp)	LOC105369149, SBF2 +1 more (N1680D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2072018	NM_030962.4(SBF2):c.5187A>G (p.Ala1729=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2071726	NM_030962.4(SBF2):c.5250_5251del (p.Leu1750_Tyr1751insTer)	SBF2-AS1, SBF2 +1 more	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
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 2032532	NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)	SBF2, SBF2-AS1 (R1433fs +2 more)	Duplication (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2026956	NM_030962.4(SBF2):c.5223T>C (p.Asp1741=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2024854	NM_030962.4(SBF2):c.5067A>T (p.Gly1689=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2022380	NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)	SBF2, SBF2-AS1 (Y1432* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2016789	NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)	SBF2, SBF2-AS1 (Q1348H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2016410	NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)	SBF2, SBF2-AS1 (V1439I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2012403	NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)	SBF2-AS1, SBF2 (L1416F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2011752	NM_030962.4(SBF2):c.4571-10T>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2008688	NM_030962.4(SBF2):c.4933-20A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2004145	NM_030962.4(SBF2):c.4709C>G (p.Pro1570Arg)	LOC105369149, SBF2 +1 more (P1570R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1999460	NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)	SBF2, SBF2-AS1 (P1427A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	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 1989829	NM_030962.4(SBF2):c.4570+20T>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 1983758	NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)	SBF2, SBF2-AS1 (N1450S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1980285	NM_030962.4(SBF2):c.4443+18G>C	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1963039	NM_030962.4(SBF2):c.4257+17del	SBF2, SBF2-AS1	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1952964	NM_030962.4(SBF2):c.4785C>G (p.Asp1595Glu)	LOC105369149, SBF2 +1 more (D1552E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1950959	NM_030962.4(SBF2):c.5291G>C (p.Trp1764Ser)	SBF2-AS1, LOC105369149 +1 more (W1721S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1944905	NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)	SBF2-AS1, SBF2 (F1432L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1932768	NM_030962.4(SBF2):c.4675T>G (p.Leu1559Val)	LOC105369149, SBF2 +1 more (L1559V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1926163	NM_030962.4(SBF2):c.5149T>C (p.Ser1717Pro)	LOC105369149, SBF2-AS1 +1 more (S1717P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1916781	NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1910370	NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)	SBF2, SBF2-AS1 (Q1423E +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1896172	NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)	SBF2, SBF2-AS1 (S1463A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1810525	NM_030962.4(SBF2):c.4998G>T (p.Arg1666Ser)	LOC105369149, SBF2 +1 more (R1623S +2 more)	Single nucleotide variant (missense variant)	not provided	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 1746793	NM_030962.4(SBF2):c.5319+2T>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 1746237	NM_030962.4(SBF2):c.5231+3G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1745949	NM_030962.4(SBF2):c.5198A>C (p.Tyr1733Ser)	LOC105369149, SBF2 +1 more (Y1765S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 5