"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "PLE - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 639953	NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys)	PLEC (E3976K +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance
Select item 2683844	NM_201384.3(PLEC):c.10339C>T (p.Leu3447Phe)	PLEC (L2347F +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +3 more	Gnot provided
Select item 436329	NM_201384.3(PLEC):c.9014G>A (p.Arg3005His)	PLEC (R2973H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 662575	NM_201384.3(PLEC):c.6797T>C (p.Leu2266Pro)	PLEC (L2244P +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 657507	NM_201384.3(PLEC):c.5932GAG[2] (p.Glu1980del)	PLEC (E1984del +6 more)	Microsatellite (inframe_deletion)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 93045	NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)	PLEC (R1196W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign
Select item 378372	NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)	PLEC (R1122W +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 663281	NM_201384.3(PLEC):c.1970G>A (p.Ser657Asn)	PLEC (S635N +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance