"Genome-Nilou Lab"[submitter] AND "PLEC"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 93033	NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93030	NM_201384.3(PLEC):c.12813A>G (p.Ser4271=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93025	NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93023	NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93022	NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 93020	NM_201384.3(PLEC):c.10665G>A (p.Thr3555=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93018	NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 93087	NM_201384.3(PLEC):c.8495G>A (p.Arg2832His)	PLEC (R2800H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 93084	NM_201384.3(PLEC):c.8253C>T (p.Asn2751=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93083	NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)	PLEC (S2622P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 93078	NM_201384.3(PLEC):c.7581A>C (p.Ala2527=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 256178	NM_201384.3(PLEC):c.7426-35C>T	PLEC	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GBenign
Select item 256177	NM_201384.3(PLEC):c.7425+37C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 93073	NM_201384.3(PLEC):c.6441G>A (p.Ala2147=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93071	NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val)	PLEC (A2025V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 93068	NM_201384.3(PLEC):c.5928G>A (p.Ala1976=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93067	NM_201384.3(PLEC):c.5907T>C (p.Ala1969=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93056	NM_201384.3(PLEC):c.4680G>A (p.Ala1560=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93052	NM_201384.3(PLEC):c.4476G>A (p.Ala1492=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 93051	NM_201384.3(PLEC):c.4455T>G (p.Ala1485=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 93050	NM_201384.3(PLEC):c.4413T>C (p.Ala1471=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93049	NM_201384.3(PLEC):c.4045-4A>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 129947	NM_201384.3(PLEC):c.3965A>G (p.His1322Arg)	PLEC (H1290R +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GBenign
Select item 256175	NM_201384.3(PLEC):c.3840+48A>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 93047	NM_201384.3(PLEC):c.3757-6A>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93046	NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln)	PLEC (R1217Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 93044	NM_201384.3(PLEC):c.3550T>C (p.Leu1184=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign
Select item 256173	NM_201384.3(PLEC):c.2923+37C>T	PLEC	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 129938	NM_201384.3(PLEC):c.2457+6C>T	PLEC	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 93038	NM_201384.3(PLEC):c.2304+9dup	PLEC	Duplication (intron variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 93035	NM_201384.3(PLEC):c.1815+13A>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GBenign
Select item 129934	NM_201384.3(PLEC):c.1511C>T (p.Ala504Val)	PLEC (A472V +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GBenign
Select item 227018	NM_201384.3(PLEC):c.1264-15G>A	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GBenign
Select item 256170	NM_201384.3(PLEC):c.1169+43T>A	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 129928	NM_201384.3(PLEC):c.1095T>C (p.Asp365=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 256168	NM_201384.3(PLEC):c.946-33C>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign
Select item 129949	NM_201384.3(PLEC):c.378T>C (p.Ala126=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 256171	NM_201384.3(PLEC):c.174+22G>C	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign

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Items: 39