"GeneDx"[submitter] AND "PGBD3"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 1270404	NM_000124.4(ERCC6):c.1397+8792G>A	ERCC6, PGBD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1295012	NM_000124.4(ERCC6):c.1397+8762T>A	ERCC6, PGBD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1706177	NM_000124.4(ERCC6):c.1397+8746A>G	ERCC6, PGBD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1265163	NM_001277058.2(ERCC6):c.2881C>T (p.Leu961=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1712917	NM_001277058.2(ERCC6):c.2609G>A (p.Arg870Gln)	ERCC6, PGBD3 (R402Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1266989	NM_001277058.2(ERCC6):c.2549G>A (p.Arg850Lys)	ERCC6, PGBD3 (R382K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2503130	NM_001277058.2(ERCC6):c.2378A>G (p.Tyr793Cys)	ERCC6, PGBD3 (Y325C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3369309	NM_001277058.2(ERCC6):c.2254C>G (p.Gln752Glu)	ERCC6, PGBD3 (Q284E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378041	NM_001277058.2(ERCC6):c.2253A>C (p.Lys751Asn)	ERCC6, PGBD3 (K283N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1194021	NM_001277058.2(ERCC6):c.2249G>A (p.Cys750Tyr)	ERCC6, PGBD3 (C282Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 788361	NM_001277058.2(ERCC6):c.2157C>T (p.Ser719=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1712714	NM_001277058.2(ERCC6):c.1672G>C (p.Val558Leu)	ERCC6, PGBD3 (V558L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1273595	NM_000124.4(ERCC6):c.1397+6737T>A	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244462	NM_000124.4(ERCC6):c.1397+231G>C	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292990	NM_000124.4(ERCC6):c.1397+194C>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2150284	NM_000124.4(ERCC6):c.1367G>A (p.Gly456Glu)	ERCC6, PGBD3 (G456E)	Single nucleotide variant (missense variant +1 more)	not provided	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 provided +4 more	GBenign/Likely benign
Select item 1702814	NM_000124.4(ERCC6):c.1322A>G (p.Glu441Gly)	ERCC6, PGBD3 (E441G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 300083	NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)	ERCC6, PGBD3 (D425A)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +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)	Macular degeneration +8 more	GBenign/Likely benign
Select item 253661	GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1	AGAP10, AGAP9 +29 more	Copy number loss	See cases	GPathogenic
Select item 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24