"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93029	NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile)	PLEC (V4230I +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GBenign
Select item 196852	NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 167504	NM_201384.3(PLEC):c.11208G>A (p.Pro3736=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GBenign
Select item 283247	NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)	PLEC (A3661T +6 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 129918	NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)	PLEC (G3289R +6 more)	Single nucleotide variant (missense variant)	PLEC-related disorder +7 more	GBenign/Likely benign
Select item 196823	NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 129958	NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp)	PLEC (R2652W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GBenign
Select item 281282	NM_201384.3(PLEC):c.8040C>T (p.Asp2680=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 281317	NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)	PLEC (V1456M +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 93049	NM_201384.3(PLEC):c.4045-4A>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GBenign
Select item 284575	NM_201384.3(PLEC):c.3543C>T (p.Val1181=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 129935	NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln)	PLEC (R537Q +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 93082	NM_201384.3(PLEC):c.718+10C>T	PLEC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 198084	NM_201384.3(PLEC):c.378T>G (p.Ala126=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related disorder +7 more	GBenign/Likely benign
Select item 448081	NM_201378.4(PLEC):c.71-11923G>A	PLEC (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign