"Baylor Genetics"[submitter] AND "PLEC"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282185	NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg)	PLEC (G3717R +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 598067	NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln)	PLEC (R3635Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 1033031	NM_201384.3(PLEC):c.10621C>A (p.Leu3541Met)	PLEC (L3519M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +1 more	GUncertain significance
Select item 570082	NM_201384.3(PLEC):c.10010C>T (p.Thr3337Met)	PLEC (T3315M +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1029851	NM_201384.3(PLEC):c.9326A>G (p.Tyr3109Cys)	PLEC (Y3095C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 471671	NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys)	PLEC (R3061C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 659545	NM_201384.3(PLEC):c.8468G>A (p.Arg2823His)	PLEC (R2791H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GUncertain significance
Select item 2037828	NM_201384.3(PLEC):c.7816C>T (p.Arg2606Trp)	PLEC (R2610W +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 282326	NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)	PLEC (R2360Q +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 538932	NM_201384.3(PLEC):c.6455C>T (p.Ala2152Val)	PLEC (A2130V +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 471629	NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)	PLEC (E2083K +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 287223	NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)	PLEC (A2083V +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1031817	NM_201384.3(PLEC):c.5865GGA[3] (p.Glu1956dup)	PLEC	Microsatellite (inframe_insertion)	Epidermolysis bullosa simplex 5C, with pyloric atresia	GUncertain significance
Select item 282396	NM_201384.3(PLEC):c.5003A>C (p.Glu1668Ala)	PLEC (E1636A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GUncertain significance
Select item 1029850	NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly)	PLEC (E1634G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GUncertain significance
Select item 1008934	NM_201384.3(PLEC):c.4736A>C (p.Gln1579Pro)	PLEC (Q1547P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 471590	NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln)	PLEC (R1478Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 1029849	NM_201384.3(PLEC):c.4372C>T (p.Arg1458Cys)	PLEC (R1462C +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 1031816	NM_201378.4(PLEC):c.71-11749C>T	PLEC (P89L)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 5C, with pyloric atresia	GUncertain significance
Select item 625552	GRCh37/hg19 8q24.3(chr8:144879444-145199846)	CYC1, EPPK1 +14 more	Copy number loss	8q24.3 microdeletion syndrome	GPathogenic

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Items: 20