XPA[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 399

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
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 2328322	NM_002486.5(NCBP1):c.1318G>T (p.Asp440Tyr)	NCBP1, XPA (D250Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610353	NM_002486.5(NCBP1):c.1423G>A (p.Ala475Thr)	NCBP1, XPA (A105T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246987	NM_002486.5(NCBP1):c.1658A>G (p.His553Arg)	XPA, NCBP1 (H363R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329489	NM_002486.5(NCBP1):c.1732G>C (p.Glu578Gln)	XPA, NCBP1 (E578Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396345	NM_002486.5(NCBP1):c.1888C>T (p.Arg630Cys)	NCBP1, XPA (R440C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335454	NM_002486.5(NCBP1):c.2048G>A (p.Arg683Lys)	XPA, NCBP1 (R493K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591698	NM_002486.5(NCBP1):c.2158A>G (p.Ile720Val)	NCBP1, XPA (I530V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460151	NM_002486.5(NCBP1):c.2326C>A (p.Pro776Thr)	NCBP1, XPA (P709T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914673	NM_000380.4(XPA):c.*439G>C	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 364081	NM_000380.4(XPA):c.*428T>C	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
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 364083	NM_000380.4(XPA):c.*256G>C	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 912703	NM_000380.4(XPA):c.*236G>A	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 364084	NM_000380.4(XPA):c.234_235del	XPA	Deletion (3 prime UTR variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 364085	NM_000380.4(XPA):c.*234C>A	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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 912704	NM_000380.4(XPA):c.*178A>C	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 364087	NM_000380.4(XPA):c.*77C>A	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 913068	NM_000380.4(XPA):c.*54T>C	XPA	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 558453	NM_000380.4(XPA):c.817dup (p.Met273fs)	XPA (M231fs +1 more)	Duplication (frameshift variant +1 more)	not specified +1 more	GUncertain significance
Select item 755805	NM_000380.4(XPA):c.810T>C (p.Tyr270=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 558323	NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer)	XPA	Microsatellite (nonsense +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 2990212	NM_000380.4(XPA):c.802C>T (p.Leu268=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1112080	NM_000380.4(XPA):c.798T>C (p.His266=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2531612	NM_000380.4(XPA):c.789G>A (p.Met263Ile)	XPA (M263I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 523608	NM_000380.4(XPA):c.772_785del (p.Arg258fs)	XPA (R216fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1914420	NM_000380.4(XPA):c.753_780dup (p.Cys261delinsProArgArgTer)	XPA	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 1705178	NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)	XPA	Deletion (nonsense +2 more)	Xeroderma pigmentosum	GLikely pathogenic
Select item 558017	NM_000380.4(XPA):c.774dup (p.Lys259Ter)	XPA (K259* +1 more)	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 737440	NM_000380.4(XPA):c.774T>A (p.Arg258=)	XPA	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum group A +1 more	GConflicting classifications of pathogenicity
Select item 1692421	NM_000380.4(XPA):c.773G>A (p.Arg258His)	XPA (R216H +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 135462	NM_000380.4(XPA):c.772C>T (p.Arg258Cys)	XPA (R258C +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 135460	NM_000380.4(XPA):c.766A>G (p.Met256Val)	XPA (M256V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1560032	NM_000380.4(XPA):c.762T>C (p.Asp254=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 553122	NM_000380.4(XPA):c.756AGA[1] (p.Glu253del)	XPA (E253del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 1805592	NM_000380.4(XPA):c.759dup (p.Asp254fs)	XPA (D212fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum +2 more	GPathogenic/Likely pathogenic
Select item 810395	NM_000380.4(XPA):c.757G>C (p.Glu253Gln)	XPA (E211Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 795429	NM_000380.4(XPA):c.756A>G (p.Leu252=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812711	NM_000380.4(XPA):c.754del (p.Asn251_Leu252insTer)	XPA	Deletion (nonsense +1 more)	not provided	GPathogenic
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 2679635	NM_000380.4(XPA):c.743del (p.Pro248fs)	XPA (P206fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 1692419	NM_000380.4(XPA):c.739G>A (p.Gly247Arg)	XPA (G205R +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 2438625	NM_000380.4(XPA):c.733G>A (p.Glu245Lys)	XPA (E203K +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 552532	NM_000380.4(XPA):c.732dup (p.Glu245Ter)	XPA (E245* +1 more)	Duplication (nonsense +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 364088	NM_000380.4(XPA):c.731A>G (p.His244Arg)	XPA (H244R +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +2 more	GConflicting classifications of pathogenicity
Select item 1609636	NM_000380.4(XPA):c.729A>G (p.Gln243=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797016	NM_000380.4(XPA):c.726T>C (p.His242=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2167717	NM_000380.4(XPA):c.724dup (p.His242fs)	XPA (H200fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1355854	NM_000380.4(XPA):c.717dup (p.Ile240fs)	XPA (I240fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1542873	NM_000380.4(XPA):c.717G>C (p.Thr239=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1120917	NM_000380.4(XPA):c.717G>T (p.Thr239=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1083303	NM_000380.4(XPA):c.717G>A (p.Thr239=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850447	NM_000380.4(XPA):c.712G>T (p.Glu238Ter)	XPA (E196* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1962896	NM_000380.4(XPA):c.711G>A (p.Arg237=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086993	NM_000380.4(XPA):c.708A>G (p.Lys236=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915444	NM_000380.4(XPA):c.704G>A (p.Trp235Ter)	XPA (W193* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1561837	NM_000380.4(XPA):c.702G>A (p.Val234=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731723	NM_000380.4(XPA):c.700G>T (p.Val234Leu)	XPA (V192L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 794378	NM_000380.4(XPA):c.696C>T (p.Ser232=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 555471	NM_000380.4(XPA):c.690AAG[1] (p.Arg231del)	XPA (R231del +1 more)	Microsatellite (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 2059561	NM_000380.4(XPA):c.690A>G (p.Val230=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1457431	NM_000380.4(XPA):c.689dup (p.Arg231fs)	XPA (R189fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1124435	NM_000380.4(XPA):c.690A>T (p.Val230=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017470	NM_000380.4(XPA):c.684A>G (p.Arg228=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1096042	NM_000380.4(XPA):c.684A>C (p.Arg228=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 135463	NM_000380.4(XPA):c.683G>A (p.Arg228Gln)	XPA (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 995	NM_000380.4(XPA):c.682C>T (p.Arg228Ter)	XPA (R186*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 554689	NM_000380.4(XPA):c.677T>A (p.Leu226Ter)	XPA (L226* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1581069	NM_000380.4(XPA):c.676T>C (p.Leu226=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2501071	NM_000380.4(XPA):c.674-2A>G	XPA	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1169171	NM_000380.4(XPA):c.674-12dup	XPA	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1128117	NM_000380.4(XPA):c.674-4T>C	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778387	NM_000380.4(XPA):c.674-9T>C	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013981	NM_000380.4(XPA):c.674-11T>G	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898947	NM_000380.4(XPA):c.674-12T>A	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741766	NM_000380.4(XPA):c.674-13A>T	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884123	NM_000380.4(XPA):c.674-14A>G	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823179	NM_000380.4(XPA):c.674-14A>C	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975821	NM_000380.4(XPA):c.674-15A>T	XPA	Single nucleotide variant (intron variant)	not provided	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 2912772	NM_000380.4(XPA):c.673+20A>G	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885681	NM_000380.4(XPA):c.673+19T>C	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908001	NM_000380.4(XPA):c.673+18A>G	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896005	NM_000380.4(XPA):c.673+13A>G	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738884	NM_000380.4(XPA):c.673+12C>T	XPA	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4