"GeneDx"[submitter] AND "LOC126861834"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 58282	GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3	BIVM, BIVM-ERCC5 +9 more	Copy number gain	See cases	GUncertain significance
Select item 310927	NM_000123.4(ERCC5):c.2100C>A (p.Leu700=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 2445270	NM_000123.4(ERCC5):c.2108A>G (p.Asp703Gly)	ERCC5, LOC126861834 +1 more (D1157G +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 1310807	NM_000123.4(ERCC5):c.2162C>T (p.Ala721Val)	BIVM-ERCC5, ERCC5 +1 more (A1175V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201420	NM_000123.4(ERCC5):c.2199+155G>C	ERCC5, BIVM-ERCC5 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2429494	NM_000123.4(ERCC5):c.2218G>C (p.Glu740Gln)	BIVM-ERCC5, ERCC5 +1 more (E1194Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134160	NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	ERCC5, LOC126861834 +1 more (A761T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1230459	NM_000123.4(ERCC5):c.2319+38T>C	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279314	NM_000123.4(ERCC5):c.2319+44C>T	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194806	NM_000123.4(ERCC5):c.2319+84G>C	LOC126861834, BIVM-ERCC5 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245173	NM_000123.4(ERCC5):c.2319+113C>T	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809823	NM_000123.4(ERCC5):c.2323C>G (p.Leu775Val)	BIVM-ERCC5, ERCC5 +1 more (L1229V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883461	NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)	BIVM-ERCC5, ERCC5 +1 more (A1249T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1327108	NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val)	BIVM-ERCC5, ERCC5 +1 more (I1267V +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 996657	NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)	BIVM-ERCC5, ERCC5 +1 more (A1272V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +1 more	GPathogenic/Likely pathogenic
Select item 728970	NM_000123.4(ERCC5):c.2457G>A (p.Arg819=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign