"Athena Diagnostics Inc"[submitter] AND "PLEC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 390440	NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)	PLEC (V4514M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +7 more	GConflicting classifications of pathogenicity
Select item 941651	NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu)	PLEC (S4670L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 196810	NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition +7 more	GBenign/Likely benign
Select item 288999	NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)	PLEC (T4469A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +7 more	GConflicting classifications of pathogenicity
Select item 448052	NM_201384.3(PLEC):c.13469G>A (p.Arg4490His)	PLEC (R4458H +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 283254	NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)	PLEC (G4462S +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 702814	NM_201384.3(PLEC):c.13404G>A (p.Ala4468=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GLikely benign
Select item 1807408	NM_201384.3(PLEC):c.13356C>T (p.Arg4452=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 227017	NM_201384.3(PLEC):c.13248G>A (p.Thr4416=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 436328	NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)	PLEC (T4384M +6 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 645781	NM_201384.3(PLEC):c.13208C>T (p.Pro4403Leu)	PLEC (P4540L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 196853	NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)	PLEC (A4339T +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 93031	NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)	PLEC	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +6 more	GBenign/Likely benign
Select item 805209	NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)	PLEC (V4336I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 805208	NM_201384.3(PLEC):c.13002C>T (p.Asp4334=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GLikely benign
Select item 196854	NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)	PLEC (P4299L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 283401	NM_201384.3(PLEC):c.12863C>T (p.Thr4288Met)	PLEC (T4315M +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 497369	NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 196825	NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser)	PLEC (P4241S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 93029	NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile)	PLEC (V4230I +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +7 more	GBenign
Select item 538952	NM_201384.3(PLEC):c.12747G>A (p.Ser4249=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 950439	NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)	PLEC (G4209S +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GConflicting classifications of pathogenicity
Select item 471535	NM_201384.3(PLEC):c.12647G>A (p.Arg4216His)	PLEC (R4243H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GUncertain significance
Select item 196852	NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GBenign/Likely benign
Select item 129930	NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 284387	NM_201384.3(PLEC):c.12549C>T (p.Ile4183=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 281685	NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)	PLEC (R4163C +6 more)	Single nucleotide variant (missense variant)	PLEC-related condition +7 more	GConflicting classifications of pathogenicity
Select item 471530	NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe)	PLEC (S4102F +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 516656	NM_201384.3(PLEC):c.12390G>A (p.Thr4130=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +7 more	GLikely benign
Select item 283337	NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 282244	NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe)	PLEC (L4022F +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GLikely benign
Select item 448051	NM_201384.3(PLEC):c.12030C>T (p.Ala4010=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GLikely benign
Select item 805207	NM_201384.3(PLEC):c.12026G>A (p.Arg4009His)	PLEC (R3977H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 93025	NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 282285	NM_201384.3(PLEC):c.11818G>A (p.Val3940Met)	PLEC (V3918M +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 196812	NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)	PLEC (T3875M +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GBenign
Select item 471524	NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)	PLEC (R3890H +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 508553	NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GConflicting classifications of pathogenicity
Select item 658777	NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser)	PLEC (G3855S +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GUncertain significance
Select item 448049	NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)	PLEC (R3833H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 281279	NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)	PLEC (E3820K +6 more)	Single nucleotide variant (missense variant)	PLEC-related condition +7 more	GConflicting classifications of pathogenicity
Select item 286038	NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GConflicting classifications of pathogenicity
Select item 994916	NM_201384.3(PLEC):c.11364G>A (p.Lys3788=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 196829	NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)	PLEC (E3745K +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GConflicting classifications of pathogenicity
Select item 167504	NM_201384.3(PLEC):c.11208G>A (p.Pro3736=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GBenign
Select item 129925	NM_201384.3(PLEC):c.11089C>T (p.Leu3697=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 586325	NM_201384.3(PLEC):c.11020C>T (p.Arg3674Cys)	PLEC (R3642C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GUncertain significance
Select item 129924	NM_201384.3(PLEC):c.10986C>T (p.Thr3662=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 579841	NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys)	PLEC (R3613C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GUncertain significance
Select item 129923	NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 644324	NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys)	PLEC (R3619C +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 448046	NM_201384.3(PLEC):c.10830C>T (p.Ala3610=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 501795	NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 93021	NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition +7 more	GBenign/Likely benign
Select item 283034	NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GConflicting classifications of pathogenicity
Select item 471517	NM_201384.3(PLEC):c.10615C>T (p.Arg3539Cys)	PLEC (R3507C +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 93018	NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 502449	NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys)	PLEC (E3503K +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 501449	NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 805206	NM_201384.3(PLEC):c.10446C>T (p.Arg3482=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 93017	NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)	PLEC (G3441S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GConflicting classifications of pathogenicity
Select item 586324	NM_201384.3(PLEC):c.10368T>A (p.Val3456=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GLikely benign
Select item 384492	NM_201384.3(PLEC):c.10338C>T (p.Ser3446=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition +7 more	GBenign
Select item 282538	NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GConflicting classifications of pathogenicity
Select item 196833	NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)	PLEC (R3371W +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 387299	NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)	PLEC (A3354V +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 129922	NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala)	PLEC (G3321A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 448045	NM_201384.3(PLEC):c.10049T>C (p.Leu3350Pro)	PLEC (L3318P +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 129921	NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met)	PLEC (T3317M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GBenign
Select item 424356	NM_201384.3(PLEC):c.10039G>A (p.Val3347Met)	PLEC (V3315M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 851500	NM_201384.3(PLEC):c.10000G>A (p.Gly3334Ser)	PLEC (G3312S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 129919	NM_201384.3(PLEC):c.9966C>T (p.Val3322=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GBenign
Select item 129918	NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)	PLEC (G3289R +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 93015	NM_201384.3(PLEC):c.9945C>T (p.Ser3315=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 497016	NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)	PLEC (R3277H +6 more)	Single nucleotide variant (missense variant)	PLEC-related condition +6 more	GConflicting classifications of pathogenicity
Select item 93014	NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)	PLEC (R3277C +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 1525792	NM_201384.3(PLEC):c.9919G>A (p.Gly3307Ser)	PLEC (G3311S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 378370	NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp)	PLEC (R3267W +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 639501	NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu)	PLEC (V3257L +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 423095	NM_201384.3(PLEC):c.9823C>T (p.Arg3275Cys)	PLEC (R3243C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 448084	NM_201384.3(PLEC):c.9815G>A (p.Arg3272His)	PLEC (R3240H +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 448083	NM_201384.3(PLEC):c.9755C>T (p.Thr3252Met)	PLEC (T3220M +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 568860	NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)	PLEC (T3250M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 805219	NM_201384.3(PLEC):c.9724C>T (p.Pro3242Ser)	PLEC (P3242S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 386990	NM_201384.3(PLEC):c.9652C>T (p.Arg3218Trp)	PLEC (R3186W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GUncertain significance
Select item 497852	NM_201384.3(PLEC):c.9580G>A (p.Glu3194Lys)	PLEC (E3162K +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 704264	NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1007472	NM_201384.3(PLEC):c.9490G>C (p.Asp3164His)	PLEC (D3132H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GUncertain significance
Select item 196844	NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)	PLEC (A3127T +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 129962	NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition +6 more	GBenign
Select item 129961	NM_201384.3(PLEC):c.9423C>T (p.Gly3141=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GBenign
Select item 994731	NM_201384.3(PLEC):c.9409C>G (p.Gln3137Glu)	PLEC (Q3105E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516977	NM_201384.3(PLEC):c.9408C>T (p.Ala3136=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GBenign
Select item 448082	NM_201384.3(PLEC):c.9394C>T (p.Arg3132Cys)	PLEC (R3100C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 281481	NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +7 more	GBenign/Likely benign
Select item 196823	NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 805218	NM_201384.3(PLEC):c.9301G>A (p.Ala3101Thr)	PLEC (A3101T +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GUncertain significance
Select item 471671	NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys)	PLEC (R3061C +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GUncertain significance
Select item 514034	NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)	PLEC (A3024D +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +7 more	GConflicting classifications of pathogenicity

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