C3150989[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196854	NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)	PLEC (P4299L +6 more)	Single nucleotide variant (missense variant)	PLEC-related disorder +7 more	GUncertain significance
Select item 706753	NM_201384.3(PLEC):c.11394G>A (p.Arg3798=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 932007	NM_201384.3(PLEC):c.10934G>A (p.Arg3645His)	PLEC (R3672H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 286123	NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 196736	NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)	PLEC (R1327H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GConflicting classifications of pathogenicity
Select item 931242	NM_201384.3(PLEC):c.435+3A>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more	GUncertain significance

ClinVar