Related gene-specific medical variations for Gene (Select 5339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353756	NM_201378.4(PLEC):c.71-3784G>A	LOC130001342, PLEC (V14I)	Single nucleotide variant (missense variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3350854	NM_201384.3(PLEC):c.27G>A (p.Pro9=)	LOC130001338, PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3340882	NM_201378.4(PLEC):c.71-3741C>T	LOC130001342, PLEC (P28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338901	NM_201378.4(PLEC):c.71-3742C>G	LOC130001342, PLEC (P28A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3245521	NC_000008.10:g.(?_145011127)_(145011430_?)dup	PLEC	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 3245519	NC_000008.10:g.(?_144990345)_(144996583_?)del	PLEC	Deletion	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GPathogenic
Select item 3235064	NM_201378.4(PLEC):c.71-3761del	LOC130001342, PLEC (W21fs)	Deletion (frameshift variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 3064483	NM_201384.3(PLEC):c.2171A>G (p.Tyr724Cys)	PLEC (Y692C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 3061956	NM_201384.3(PLEC):c.4141C>T (p.Gln1381Ter)	PLEC (Q1349* +6 more)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GLikely pathogenic
Select item 3048033	NM_201378.4(PLEC):c.71-3729G>C	LOC130001342, PLEC (G32A)	Single nucleotide variant (missense variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3044086	NM_201378.4(PLEC):c.71-3818G>A	LOC130001342, PLEC	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3041428	NM_201378.4(PLEC):c.71-3737C>T	LOC130001342, PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related disorder	GLikely benign
Select item 2939576	NM_201384.3(PLEC):c.1263G>C (p.Ser421=)	LOC130001334, PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2926568	NM_201384.3(PLEC):c.1263+14_1263+15insGTGGCAGCAGTCG	LOC130001334, PLEC	Insertion (intron variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 2690682	NM_201384.3(PLEC):c.9920del (p.Gly3307fs)	PLEC (G2207fs +7 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690681	NM_201384.3(PLEC):c.3041_3042del (p.Glu1014fs)	PLEC (E1000fs +6 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2689786	NM_000445.5(PLEC):c.46T>G (p.Ser16Ala)	PLEC (S16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689785	NM_201384.3(PLEC):c.3136G>C (p.Glu1046Gln)	PLEC (E1014Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689784	NM_201384.3(PLEC):c.3809G>A (p.Arg1270Lys)	PLEC (R1238K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689783	NM_201384.3(PLEC):c.11600ACG[1] (p.Asp3868del)	PLEC (D2768del +7 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2689782	NM_201384.3(PLEC):c.5515C>A (p.Leu1839Met)	PLEC (L1807M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689780	NM_201384.3(PLEC):c.9108G>T (p.Gln3036His)	PLEC (Q1936H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689779	NM_201384.3(PLEC):c.7798C>T (p.Leu2600Phe)	PLEC (L1500F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689778	NM_201384.3(PLEC):c.11983A>G (p.Ile3995Val)	PLEC (I2895V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689777	NM_201384.3(PLEC):c.2405C>G (p.Pro802Arg)	PLEC (P770R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689776	NM_201384.3(PLEC):c.9082G>T (p.Gly3028Cys)	PLEC (G1928C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689775	NM_201384.3(PLEC):c.11299G>T (p.Ala3767Ser)	PLEC (A2667S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689774	NM_201384.3(PLEC):c.5587_5613dup (p.Glu1871_Asp1872insAsnGluArgLeuArgArgLeuAlaGlu)	PLEC	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2689773	NM_201384.3(PLEC):c.3847G>A (p.Glu1283Lys)	PLEC (E1251K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689772	NM_201384.3(PLEC):c.12818C>G (p.Pro4273Arg)	PLEC (P3173R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684305	NM_201384.3(PLEC):c.9120C>T (p.Ile3040=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684303	NM_201384.3(PLEC):c.4146_4157del (p.Lys1383_Ala1386del)	PLEC	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2684302	NM_201384.3(PLEC):c.3105G>T (p.Gly1035=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684299	NM_201384.3(PLEC):c.10469A>G (p.Gln3490Arg)	PLEC (Q2390R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658957	NM_201378.4(PLEC):c.71-3771G>A	LOC130001342, PLEC (R18Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2631049	NM_201384.3(PLEC):c.1260G>C (p.Gln420His)	LOC130001334, PLEC (Q388H +6 more)	Single nucleotide variant (missense variant)	PLEC-related disorder	GUncertain significance
Select item 2603921	NM_201384.3(PLEC):c.1256T>A (p.Leu419Gln)	LOC130001334, PLEC (L397Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435080	NM_201384.3(PLEC):c.5256G>T (p.Glu1752Asp)	PLEC (E1720D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435079	NM_201384.3(PLEC):c.10868T>G (p.Ile3623Ser)	PLEC (I2523S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435078	NM_201384.3(PLEC):c.730C>T (p.Pro244Ser)	PLEC (P212S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435077	NM_201384.3(PLEC):c.9451C>T (p.Arg3151Cys)	PLEC (R3129C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435076	NM_201384.3(PLEC):c.8003A>C (p.Glu2668Ala)	PLEC (E1568A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435075	NM_201384.3(PLEC):c.5066T>C (p.Leu1689Pro)	PLEC (L1657P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435073	NM_201384.3(PLEC):c.952T>C (p.Trp318Arg)	PLEC (W286R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435072	NM_201384.3(PLEC):c.1832G>T (p.Arg611Leu)	PLEC (R579L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435070	NM_201384.3(PLEC):c.4570G>A (p.Glu1524Lys)	PLEC (E1492K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435069	NM_201384.3(PLEC):c.6019G>T (p.Ala2007Ser)	PLEC (A1975S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435067	NM_201384.3(PLEC):c.6919T>G (p.Leu2307Val)	PLEC (L2275V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435066	NM_201384.3(PLEC):c.3429G>T (p.Gln1143His)	PLEC (Q1111H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435065	NM_201384.3(PLEC):c.2142C>G (p.Ile714Met)	PLEC (I682M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435063	NM_201384.3(PLEC):c.6066G>A (p.Arg2022=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2435062	NM_201384.3(PLEC):c.5096A>G (p.Gln1699Arg)	PLEC (Q1667R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435061	NM_201384.3(PLEC):c.10775A>G (p.Gln3592Arg)	PLEC (Q2492R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435060	NM_201384.3(PLEC):c.12000C>G (p.Phe4000Leu)	PLEC (F2900L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435059	NM_201384.3(PLEC):c.6164C>T (p.Ala2055Val)	PLEC (A2023V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435058	NM_201384.3(PLEC):c.5363G>A (p.Arg1788Lys)	PLEC (R1756K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435057	NM_201384.3(PLEC):c.4784C>T (p.Ser1595Phe)	PLEC (S1563F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435056	NM_201384.3(PLEC):c.11764A>G (p.Thr3922Ala)	PLEC (T2822A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435053	NM_201384.3(PLEC):c.1849A>G (p.Ser617Gly)	PLEC (S585G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435052	NM_201384.3(PLEC):c.5470G>A (p.Ala1824Thr)	PLEC (A1792T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435050	NM_201384.3(PLEC):c.10012G>C (p.Val3338Leu)	PLEC (V2238L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435049	NM_201384.3(PLEC):c.4840G>T (p.Ala1614Ser)	PLEC (A1582S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435047	NM_201384.3(PLEC):c.4741A>C (p.Lys1581Gln)	PLEC (K1549Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435046	NM_201384.3(PLEC):c.13475G>A (p.Gly4492Asp)	PLEC (G3392D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435041	NM_201384.3(PLEC):c.9647C>T (p.Ala3216Val)	PLEC (A2116V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435039	NM_201384.3(PLEC):c.7609CAG[5] (p.Gln2540_Met2541insGln)	PLEC	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2435038	NM_201384.3(PLEC):c.8737C>T (p.Pro2913Ser)	PLEC (P1813S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435037	NM_201384.3(PLEC):c.13094A>G (p.Lys4365Arg)	PLEC (K3265R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435035	NM_201384.3(PLEC):c.3771G>T (p.Glu1257Asp)	PLEC (E1225D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435033	NM_201384.3(PLEC):c.1841C>G (p.Ser614Cys)	PLEC (S582C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435032	NM_201384.3(PLEC):c.2827G>A (p.Ala943Thr)	PLEC (A1080T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435031	NM_201384.3(PLEC):c.7567G>A (p.Glu2523Lys)	PLEC (E1423K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435030	NM_201384.3(PLEC):c.6074G>T (p.Arg2025Leu)	PLEC (R1993L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435029	NM_201384.3(PLEC):c.12688A>G (p.Thr4230Ala)	PLEC (T3130A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435027	NM_201384.3(PLEC):c.3833C>G (p.Ala1278Gly)	PLEC (A1246G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435026	NM_201384.3(PLEC):c.2585A>G (p.Asn862Ser)	PLEC (N830S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435025	NM_201384.3(PLEC):c.1241A>G (p.Gln414Arg)	LOC130001334, PLEC (Q382R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435023	NM_201384.3(PLEC):c.4868_4888dup (p.Arg1629_Glu1630insAlaArgGluGluAlaGluArg)	PLEC	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2435022	NM_201384.3(PLEC):c.10361G>C (p.Gly3454Ala)	PLEC (G2354A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435021	NM_201384.3(PLEC):c.113-3C>T	PLEC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435020	NM_201384.3(PLEC):c.6988G>A (p.Glu2330Lys)	PLEC (E2298K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435019	NM_201384.3(PLEC):c.233C>G (p.Ser78Cys)	PLEC (S105C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435018	NM_201384.3(PLEC):c.4252A>G (p.Ile1418Val)	PLEC (I1386V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435015	NM_201384.3(PLEC):c.6565A>T (p.Thr2189Ser)	PLEC (T2157S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435014	NM_201384.3(PLEC):c.5818G>A (p.Gly1940Ser)	PLEC (G1908S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435010	NM_201384.3(PLEC):c.12874G>T (p.Val4292Leu)	PLEC (V3192L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435009	NM_201384.3(PLEC):c.11936C>G (p.Pro3979Arg)	PLEC (P2879R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435008	NM_201384.3(PLEC):c.6846_6875del (p.Ser2284_Leu2293del)	PLEC	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2435007	NM_201384.3(PLEC):c.9782A>G (p.Tyr3261Cys)	PLEC (Y2161C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435004	NM_201384.3(PLEC):c.5386T>G (p.Phe1796Val)	PLEC (F1764V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435002	NM_201384.3(PLEC):c.10381G>T (p.Gly3461Cys)	PLEC (G2361C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435000	NM_201384.3(PLEC):c.7291G>A (p.Val2431Met)	PLEC (V2399M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434999	NM_201384.3(PLEC):c.2665G>A (p.Asp889Asn)	PLEC (D1026N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434996	NM_201384.3(PLEC):c.4199_4219del (p.Glu1400_Glu1406del)	PLEC	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2434995	NM_201384.3(PLEC):c.406C>T (p.Leu136Phe)	PLEC (L104F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434994	NM_201384.3(PLEC):c.3134C>T (p.Ala1045Val)	PLEC (A1013V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434993	NM_201384.3(PLEC):c.11531G>A (p.Arg3844His)	PLEC (R2744H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434990	NM_201384.3(PLEC):c.4961A>C (p.Gln1654Pro)	PLEC (Q1632P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434989	NM_201384.3(PLEC):c.9566C>T (p.Pro3189Leu)	PLEC (P2089L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434987	NM_201384.3(PLEC):c.9040G>C (p.Asp3014His)	PLEC (D1914H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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