"Illumina Laboratory Services, Illumina"[submitter] AND "PGBD3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595151	NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp)	ERCC6, PGBD3 (R464W)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2 +4 more	GUncertain significance
Select item 878760	NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)	ERCC6, ERCC6-PGBD3 +1 more (Y460S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 235642	NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)	ERCC6, PGBD3 (G446D)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 300082	NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)	ERCC6, ERCC6-PGBD3 +1 more (F427S)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +3 more	GUncertain significance
Select item 300083	NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)	ERCC6, PGBD3 (D425A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 879712	NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)	ERCC6, PGBD3 (R413W)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +4 more	GUncertain significance
Select item 300084	NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp)	ERCC6, PGBD3 (G410D)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 129013	NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	ERCC6, PGBD3 (G399D)	Single nucleotide variant (missense variant +1 more)	COFS syndrome +8 more	GBenign/Likely benign
Select item 300085	NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys)	ERCC6, PGBD3 (E387K)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity
Select item 300088	NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu)	ERCC6, ERCC6-PGBD3 +1 more (D386E)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300087	NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)	ERCC6, PGBD3 (D386E)	Single nucleotide variant (missense variant +1 more)	ERCC6-related condition +5 more	GConflicting classifications of pathogenicity
Select item 300086	NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GPathogenic
Select item 988905	GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3	C10orf71, CHAT +15 more	Copy number gain	not provided	GUncertain significance