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

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 364082	NM_000380.4(XPA):c.*278T>C	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 364085	NM_000380.4(XPA):c.*234C>A	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A +1 more	GBenign
Select item 364086	NM_000380.4(XPA):c.*203C>G	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 135460	NM_000380.4(XPA):c.766A>G (p.Met256Val)	XPA (M256V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +1 more	GBenign/Likely benign
Select item 135461	NM_000380.4(XPA):c.754C>G (p.Leu252Val)	XPA (L252V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 731723	NM_000380.4(XPA):c.700G>T (p.Val234Leu)	XPA (V192L +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1179232	NM_000380.4(XPA):c.674-79T>C	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 551809	NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	XPA (R211* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 996	NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	XPA (R207* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 1343043	NM_000380.4(XPA):c.556-32C>T	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204074	NM_000380.4(XPA):c.556-94A>C	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223396	NM_000380.4(XPA):c.555+231A>G	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178105	NM_000380.4(XPA):c.390-117A>G	XPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290069	NM_000380.4(XPA):c.389+260T>G	XPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 959994	NM_000380.4(XPA):c.368del (p.Leu123fs)	XPA (L123fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 524024	NM_000380.4(XPA):c.327_340dup (p.Asp114fs)	XPA (D72fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 430367	NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	XPA (C108Y +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +2 more	GConflicting classifications of pathogenicity
Select item 546389	NM_000380.4(XPA):c.284-31_284-8delinsGTC	XPA	Indel (intron variant)	not provided	GLikely pathogenic
Select item 1301039	NM_000380.4(XPA):c.284-146_284-145insTA	XPA	Insertion (intron variant)	not provided	GLikely benign
Select item 1281352	NM_000380.4(XPA):c.284-156_284-155dup	XPA	Duplication (intron variant)	not provided	GBenign
Select item 1239307	NM_000380.4(XPA):c.284-220A>C	XPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 524023	NM_000380.4(XPA):c.266_267dup (p.Val90fs)	XPA (V90fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic
Select item 1193397	NM_000380.4(XPA):c.253C>T (p.Gln85Ter)	XPA (Q43* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1250426	NM_000380.4(XPA):c.172+204T>G	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1275454	NM_000380.4(XPA):c.172+94G>C	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 551362	NM_000380.4(XPA):c.10del (p.Ala4fs)	XPA (A4fs)	Deletion (frameshift variant +2 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 190206	NM_000380.4(XPA):c.-4A>G	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 32