"Eurofins Ntd Llc (ga)"[submitter] AND "LOC130001334"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282632	NM_201384.3(PLEC):c.1263+10_1263+11insCGGTGAGGCAGCAGTCG	PLEC, LOC130001334	Insertion (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 421208	NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG	LOC130001334, PLEC	Indel (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 282851	NM_201384.3(PLEC):c.1263+10T>G	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 290704	NM_201384.3(PLEC):c.1263+9G>C	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 290705	NM_201384.3(PLEC):c.1263+8G>T	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 282421	NM_201384.3(PLEC):c.1263+8G>A	PLEC, LOC130001334	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 289782	NM_201384.3(PLEC):c.1263+6_1263+7insCAGTCGGTGAGGCAGCA	LOC130001334, PLEC	Insertion (intron variant)	not provided	GUncertain significance
Select item 282422	NM_201384.3(PLEC):c.1263+7G>C	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 282413	NM_201384.3(PLEC):c.1262C>T (p.Ser421Leu)	LOC130001334, PLEC (S399L +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 514094	NM_201384.3(PLEC):c.1248C>T (p.Asp416=)	LOC130001334, PLEC	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 282778	NM_201384.3(PLEC):c.1245C>G (p.Ala415=)	LOC130001334, PLEC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity