5339[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 1220381	NM_201384.3(PLEC):c.*286C>T	PLEC	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 93013	NM_201384.3(PLEC):c.*19C>T	PLEC	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 93012	NM_201384.3(PLEC):c.*10C>T	PLEC	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 1575183	NM_201384.3(PLEC):c.13641C>T (p.Ala4547=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GLikely benign
Select item 471544	NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 960435	NM_201384.3(PLEC):c.13640C>G (p.Ala4547Gly)	PLEC (A4574G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 390440	NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)	PLEC (V4514M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 1621854	NM_201384.3(PLEC):c.13635C>T (p.Ala4545=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 1374025	NM_201384.3(PLEC):c.13633G>C (p.Ala4545Pro)	PLEC (A4523P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 1440833	NM_201384.3(PLEC):c.13631_13632del (p.Ser4544fs)	PLEC (S4512fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2922867	NM_201384.3(PLEC):c.13626T>C (p.Pro4542=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GLikely benign
Select item 854240	NM_201384.3(PLEC):c.13624C>T (p.Pro4542Ser)	PLEC (P4510S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2182713	NM_201384.3(PLEC):c.13622G>C (p.Gly4541Ala)	PLEC (G4527A +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 1360572	NM_201384.3(PLEC):c.13622G>T (p.Gly4541Val)	PLEC (G4527V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 1011653	NM_201384.3(PLEC):c.13621G>A (p.Gly4541Ser)	PLEC (G4509S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1432857	NM_201384.3(PLEC):c.13619G>T (p.Gly4540Val)	PLEC (G4518V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 2142146	NM_201384.3(PLEC):c.13615C>T (p.Leu4539=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 2252441	NM_201384.3(PLEC):c.13609G>C (p.Ala4537Pro)	PLEC (A4523P +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2949456	NM_201384.3(PLEC):c.13608G>A (p.Ser4536=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GLikely benign
Select item 500806	NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)	PLEC (S4504L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1087073	NM_201384.3(PLEC):c.13605C>T (p.Ser4535=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 1676113	NM_201384.3(PLEC):c.13602G>A (p.Gly4534=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414754	NM_201384.3(PLEC):c.13601G>A (p.Gly4534Glu)	PLEC (G4520E +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 646420	NM_201384.3(PLEC):c.13599G>A (p.Ser4533=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 941651	NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu)	PLEC (S4670L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 501734	NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GConflicting classifications of pathogenicity
Select item 2116800	NM_201384.3(PLEC):c.13595C>G (p.Ala4532Gly)	PLEC (A3432G +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 2435044	NM_201384.3(PLEC):c.13594G>A (p.Ala4532Thr)	PLEC (A3432T +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 389523	NM_201384.3(PLEC):c.13593C>T (p.Tyr4531=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GLikely benign
Select item 3375429	NM_201384.3(PLEC):c.13589G>A (p.Arg4530His)	PLEC (R3430H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2926168	NM_201384.3(PLEC):c.13588C>T (p.Arg4530Cys)	PLEC (R4530C +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 659544	NM_201384.3(PLEC):c.13586G>A (p.Arg4529His)	PLEC (R4507H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1991639	NM_201384.3(PLEC):c.13582G>A (p.Gly4528Ser)	PLEC (G3428S +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 385829	NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1955561	NM_201384.3(PLEC):c.13580A>G (p.Tyr4527Cys)	PLEC (Y4513C +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 574348	NM_201384.3(PLEC):c.13580A>T (p.Tyr4527Phe)	PLEC (Y4531F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 582765	NM_201384.3(PLEC):c.13579T>C (p.Tyr4527His)	PLEC (Y4505H +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 538984	NM_201384.3(PLEC):c.13578C>G (p.Gly4526=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 196810	NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 956859	NM_201384.3(PLEC):c.13566CTC[2] (p.Ser4525del)	PLEC (S4525del +6 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 779769	NM_201384.3(PLEC):c.13574C>T (p.Ser4525Leu)	PLEC (S4503L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GConflicting classifications of pathogenicity
Select item 941444	NM_201384.3(PLEC):c.13573T>C (p.Ser4525Pro)	PLEC (S4511P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2084881	NM_201384.3(PLEC):c.13568C>T (p.Ser4523Phe)	PLEC (S4491F +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2040693	NM_201384.3(PLEC):c.13568C>A (p.Ser4523Tyr)	PLEC (S4501Y +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2952663	NM_201384.3(PLEC):c.13565A>C (p.Tyr4522Ser)	PLEC (Y4508S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1106582	NM_201384.3(PLEC):c.13563C>T (p.Ser4521=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 643984	NM_201384.3(PLEC):c.13562C>T (p.Ser4521Phe)	PLEC (S4489F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1456769	NM_201384.3(PLEC):c.13557A>T (p.Ser4519=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 487246	NM_201384.3(PLEC):c.13552T>C (p.Ser4518Pro)	PLEC (S4486P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 784765	NM_201384.3(PLEC):c.13551C>T (p.Phe4517=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 598012	NM_201384.3(PLEC):c.13547C>T (p.Thr4516Ile)	PLEC (T4484I +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 597640	NM_201384.3(PLEC):c.13543A>G (p.Met4515Val)	PLEC (M4515V +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1544880	NM_201384.3(PLEC):c.13536C>T (p.Gly4512=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 648566	NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser)	PLEC (G4516S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2938560	NM_201384.3(PLEC):c.13533C>A (p.Ser4511=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 196815	NM_201384.3(PLEC):c.13533C>T (p.Ser4511=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GConflicting classifications of pathogenicity
Select item 1038192	NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)	PLEC (G4514V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 583068	NM_201384.3(PLEC):c.13528G>A (p.Gly4510Ser)	PLEC (G4478S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 786415	NM_201384.3(PLEC):c.13527C>T (p.Thr4509=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GLikely benign
Select item 595924	NM_201384.3(PLEC):c.13526C>G (p.Thr4509Ser)	PLEC (T4509S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 656409	NM_201384.3(PLEC):c.13501_13525del (p.Ser4501fs)	PLEC (S4479fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 471545	NM_201384.3(PLEC):c.13525A>G (p.Thr4509Ala)	PLEC (T4487A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1504043	NM_201384.3(PLEC):c.13522G>A (p.Ala4508Thr)	PLEC (A4512T +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 506441	NM_201384.3(PLEC):c.13521C>T (p.Asp4507=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GLikely benign
Select item 942120	NM_201384.3(PLEC):c.13511G>C (p.Gly4504Ala)	PLEC (G4472A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 478521	NM_201384.3(PLEC):c.13510G>A (p.Gly4504Ser)	PLEC (G4482S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 282203	NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2046637	NM_201384.3(PLEC):c.13508G>A (p.Arg4503His)	PLEC (R4489H +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2189880	NM_201384.3(PLEC):c.13507C>T (p.Arg4503Cys)	PLEC (R3403C +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 2937335	NM_201384.3(PLEC):c.13494_13505dup (p.Arg4502_Arg4503insAlaGlySerArg)	PLEC	Duplication (inframe_insertion)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 1422739	NM_201384.3(PLEC):c.13494_13505del (p.Ala4499_Arg4502del)	PLEC	Deletion (inframe_deletion)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 853767	NM_201384.3(PLEC):c.13505G>A (p.Arg4502His)	PLEC (R4470H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 2085052	NM_201384.3(PLEC):c.13504C>T (p.Arg4502Cys)	PLEC (R4480C +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 705125	NM_201384.3(PLEC):c.13500C>T (p.Gly4500=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GLikely benign
Select item 2933689	NM_201384.3(PLEC):c.13499G>A (p.Gly4500Asp)	PLEC (G4500D +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 659257	NM_201384.3(PLEC):c.13498G>A (p.Gly4500Ser)	PLEC (G4504S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance

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