"GeneDx"[submitter] AND "LOC130001334"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 667918	NM_201384.3(PLEC):c.1263+219C>T	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667917	NM_201384.3(PLEC):c.1263+177T>C	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217842	NM_201384.3(PLEC):c.1263+154G>A	LOC130001334, PLEC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236894	NM_201384.3(PLEC):c.1263+10_1263+11insCG	LOC130001334, PLEC	Insertion (intron variant)	not provided	GBenign
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 539051	NM_201384.3(PLEC):c.1263+8_1263+9insCAGCA	LOC130001334, PLEC	Insertion (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GBenign/Likely benign
Select item 539050	NM_201384.3(PLEC):c.1263+6_1263+7insCAGTCGGTGA	LOC130001334, PLEC	Insertion (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GBenign/Likely benign
Select item 280769	NM_201384.3(PLEC):c.1252del (p.Leu418fs)	LOC130001334, PLEC (L386fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 682506	NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)	LOC130001334, PLEC (D384N +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 432065	NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter)	LOC130001334, PLEC (Q382* +6 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 471538	NM_201384.3(PLEC):c.1236G>A (p.Leu412=)	LOC130001334, PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more	GBenign