ClinVar for MedGen (Select 82775) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802311.	NM_000380.4(XPA):c.284-7_284-6del GRCh37: Chr9:100451927-100451928 GRCh38: Chr9:97689645-97689646	XPA		Xeroderma pigmentosum group A	Uncertain significance (May 16, 2023)	criteria provided, single submitter
Select item 24386252.	NM_000380.4(XPA):c.733G>A (p.Glu245Lys) GRCh37: Chr9:100437810 GRCh38: Chr9:97675528	XPA	E203K, E245K	Xeroderma pigmentosum group A	Uncertain significance (May 31, 2019)	criteria provided, single submitter
Select item 18056013.	NM_000380.4(XPA):c.640dup (p.Met214fs) GRCh37: Chr9:100447237-100447238 GRCh38: Chr9:97684955-97684956	XPA	M172fs, M214fs	Xeroderma pigmentosum group A	Pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 18055924.	NM_000380.4(XPA):c.759dup (p.Asp254fs) GRCh37: Chr9:100437783-100437784 GRCh38: Chr9:97675501-97675502	XPA	D212fs, D254fs	Xeroderma pigmentosum, not provided, Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Jan 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17095075.	NM_000380.4(XPA):c.520C>T (p.Gln174Ter) GRCh37: Chr9:100449413 GRCh38: Chr9:97687131	XPA	Q132, Q174	not provided, Xeroderma pigmentosum group A	Pathogenic (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16924176.	NM_000380.4(XPA):c.599T>C (p.Leu200Ser) GRCh37: Chr9:100447279 GRCh38: Chr9:97684997	XPA	L158S, L200S	Xeroderma pigmentosum, Xeroderma pigmentosum group A	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13194527.	NM_000380.4(XPA):c.122C>T (p.Ala41Val) GRCh37: Chr9:100459453 GRCh38: Chr9:97697171	XPA	A41V	Xeroderma pigmentosum group A, not provided	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9147058.	NM_000380.3(XPA):c.-50G>T GRCh37: Chr9:100459624 GRCh38: Chr9:97697342	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9146739.	NM_000380.4(XPA):c.*439G>C GRCh37: Chr9:100437282 GRCh38: Chr9:97675000	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91421910.	NM_000380.4(XPA):c.13G>T (p.Asp5Tyr) GRCh37: Chr9:100459562 GRCh38: Chr9:97697280	XPA	D5Y	not provided, Xeroderma pigmentosum group A	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91421811.	NM_000380.4(XPA):c.47A>G (p.Gln16Arg) GRCh37: Chr9:100459528 GRCh38: Chr9:97697246	XPA	Q16R	Xeroderma pigmentosum group A	Uncertain significance (Jan 19, 2018)	criteria provided, single submitter
Select item 91421712.	NM_000380.4(XPA):c.452A>G (p.Lys151Arg) GRCh37: Chr9:100449481 GRCh38: Chr9:97687199	XPA	K151R, K109R	Xeroderma pigmentosum group A	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91306913.	NM_000380.4(XPA):c.494T>C (p.Ile165Thr) GRCh37: Chr9:100449439 GRCh38: Chr9:97687157	XPA	I123T, I165T	Xeroderma pigmentosum group A	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91306814.	NM_000380.4(XPA):c.*54T>C GRCh37: Chr9:100437667 GRCh38: Chr9:97675385	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91270415.	NM_000380.4(XPA):c.*178A>C GRCh37: Chr9:100437543 GRCh38: Chr9:97675261	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91270316.	NM_000380.4(XPA):c.*236G>A GRCh37: Chr9:100437485 GRCh38: Chr9:97675203	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 73744017.	NM_000380.4(XPA):c.774T>A (p.Arg258=) GRCh37: Chr9:100437769 GRCh38: Chr9:97675487	XPA		Xeroderma pigmentosum group A, not provided	Conflicting interpretations of pathogenicity (Apr 13, 2022)	criteria provided, conflicting interpretations
Select item 72928018.	NM_000380.4(XPA):c.289G>A (p.Val97Ile) GRCh37: Chr9:100451916 GRCh38: Chr9:97689634	XPA	V55I, V97I	not provided, Xeroderma pigmentosum group A	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55846819.	NM_000380.4(XPA):c.563del (p.Lys188fs) GRCh37: Chr9:100447315 GRCh38: Chr9:97685033	XPA	K146fs, K188fs	Xeroderma pigmentosum group A	Likely pathogenic (May 23, 2018)	criteria provided, single submitter
Select item 55845320.	NM_000380.4(XPA):c.817dup (p.Met273fs) GRCh37: Chr9:100437725-100437726 GRCh38: Chr9:97675443-97675444	XPA	M231fs, M273fs	not specified, Xeroderma pigmentosum group A	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55842821.	NM_000380.4(XPA):c.397GAT[1] (p.Asp134del) GRCh37: Chr9:100449531-100449533 GRCh38: Chr9:97687249-97687251	XPA	D134del, D92del	Xeroderma pigmentosum group A	Uncertain significance (May 22, 2018)	criteria provided, single submitter
Select item 55832322.	NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer) GRCh37: Chr9:100437733-100437734 GRCh38: Chr9:97675451-97675452	XPA		Xeroderma pigmentosum group A	Uncertain significance (May 14, 2018)	criteria provided, single submitter
Select item 55830723.	NM_000380.4(XPA):c.599T>G (p.Leu200Ter) GRCh37: Chr9:100447279 GRCh38: Chr9:97684997	XPA	L200, L158	Xeroderma pigmentosum group A	Likely pathogenic (May 15, 2018)	criteria provided, single submitter
Select item 55817324.	NM_000380.4(XPA):c.673+2T>C GRCh37: Chr9:100447203 GRCh38: Chr9:97684921	XPA		Xeroderma pigmentosum group A	Likely pathogenic (May 3, 2018)	criteria provided, single submitter
Select item 55801725.	NM_000380.4(XPA):c.774dup (p.Lys259Ter) GRCh37: Chr9:100437768-100437769 GRCh38: Chr9:97675486-97675487	XPA	K259, K217	not provided, Xeroderma pigmentosum group A	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 55790026.	NM_000380.4(XPA):c.331G>T (p.Glu111Ter) GRCh37: Chr9:100451874 GRCh38: Chr9:97689592	XPA	E111, E69	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group A	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55789427.	NM_000380.4(XPA):c.642_645dup (p.Gln216fs) GRCh37: Chr9:100447232-100447233 GRCh38: Chr9:97684950-97684951	XPA	Q216fs, Q174fs	Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55767428.	NM_000380.4(XPA):c.532dup (p.Met178fs) GRCh37: Chr9:100449400-100449401 GRCh38: Chr9:97687118-97687119	XPA	M178fs, M136fs	Xeroderma pigmentosum group A	Likely pathogenic (Apr 10, 2018)	criteria provided, single submitter
Select item 55741029.	NM_000380.4(XPA):c.389+1G>A GRCh37: Chr9:100451815 GRCh38: Chr9:97689533	XPA		Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Mar 30, 2018)	criteria provided, multiple submitters, no conflicts
Select item 55740730.	NM_000380.4(XPA):c.391del (p.Asp131fs) GRCh37: Chr9:100449542 GRCh38: Chr9:97687260	XPA	D89fs, D131fs	Xeroderma pigmentosum group A	Likely pathogenic (Mar 24, 2018)	criteria provided, single submitter
Select item 55692731.	NM_000380.4(XPA):c.172+1G>T GRCh37: Chr9:100459402 GRCh38: Chr9:97697120	XPA		Xeroderma pigmentosum group A	Likely pathogenic (Feb 27, 2018)	criteria provided, single submitter
Select item 55680832.	NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del) GRCh37: Chr9:100459549-100459578 GRCh38: Chr9:97697267-97697296	XPA		Xeroderma pigmentosum group A	Likely pathogenic (Feb 20, 2018)	criteria provided, single submitter
Select item 55663833.	NM_000380.4(XPA):c.344_346del (p.Ser115del) GRCh37: Chr9:100451859-100451861 GRCh38: Chr9:97689577-97689579	XPA	S115del, S73del	Xeroderma pigmentosum group A	Uncertain significance (Feb 13, 2018)	criteria provided, single submitter
Select item 55639834.	NM_000380.3(XPA):c.-72_-47del GRCh37: Chr9:100459621-100459646 GRCh38: Chr9:97697339-97697364	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 31, 2018)	criteria provided, single submitter
Select item 55633135.	NM_000380.4(XPA):c.601_602del (p.Glu201fs) GRCh37: Chr9:100447276-100447277 GRCh38: Chr9:97684994-97684995	XPA	E159fs, E201fs	Xeroderma pigmentosum group A	Likely pathogenic (Jan 30, 2018)	criteria provided, single submitter
Select item 55595536.	NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del) GRCh37: Chr9:100459537-100459563 GRCh38: Chr9:97697255-97697281	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 4, 2018)	criteria provided, single submitter
Select item 55588537.	NM_000380.4(XPA):c.572_573del (p.Leu191fs) GRCh37: Chr9:100447305-100447306 GRCh38: Chr9:97685023-97685024	XPA	L149fs, L191fs	Xeroderma pigmentosum group A	Likely pathogenic (Jan 2, 2018)	criteria provided, single submitter
Select item 55588438.	NM_000380.4(XPA):c.197del (p.Pro66fs) GRCh37: Chr9:100456017 GRCh38: Chr9:97693735	XPA	P24fs, P66fs	Xeroderma pigmentosum group A	Likely pathogenic (Jan 2, 2018)	criteria provided, single submitter
Select item 55555039.	NM_000380.4(XPA):c.476_477del (p.Glu159fs) GRCh37: Chr9:100449456-100449457 GRCh38: Chr9:97687174-97687175	XPA	E117fs, E159fs	Xeroderma pigmentosum group A	Likely pathogenic (Dec 12, 2017)	criteria provided, single submitter
Select item 55547140.	NM_000380.4(XPA):c.690AAG[1] (p.Arg231del) GRCh37: Chr9:100437848-100437850 GRCh38: Chr9:97675566-97675568	XPA	R231del, R189del	Xeroderma pigmentosum group A	Uncertain significance (Dec 8, 2017)	criteria provided, single submitter
Select item 55543441.	NM_000380.4(XPA):c.235G>T (p.Glu79Ter) GRCh37: Chr9:100455979 GRCh38: Chr9:97693697	XPA	E79, E37	Xeroderma pigmentosum group A	Likely pathogenic (Dec 5, 2017)	criteria provided, single submitter
Select item 55517242.	NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del) GRCh37: Chr9:100455962-100455967 GRCh38: Chr9:97693680-97693685	XPA		Xeroderma pigmentosum group A	Uncertain significance (Nov 21, 2017)	criteria provided, single submitter
Select item 55515943.	NM_000380.4(XPA):c.555+1G>A GRCh37: Chr9:100449377 GRCh38: Chr9:97687095	XPA		Xeroderma pigmentosum group A	Likely pathogenic (Nov 20, 2017)	criteria provided, single submitter
Select item 55510644.	NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup) GRCh37: Chr9:100447268-100447269 GRCh38: Chr9:97684986-97684987	XPA		Xeroderma pigmentosum group A	Uncertain significance (Nov 22, 2017)	criteria provided, single submitter
Select item 55505145.	NM_000380.4(XPA):c.428_429del (p.Glu143fs) GRCh37: Chr9:100449504-100449505 GRCh38: Chr9:97687222-97687223	XPA	E101fs, E143fs	Xeroderma pigmentosum, Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55502146.	NM_000380.4(XPA):c.472dup (p.Arg158fs) GRCh37: Chr9:100449460-100449461 GRCh38: Chr9:97687178-97687179	XPA	R158fs, R116fs	Xeroderma pigmentosum group A	Likely pathogenic (Nov 15, 2017)	criteria provided, single submitter
Select item 55475947.	NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer) GRCh37: Chr9:100449473-100449474 GRCh38: Chr9:97687191-97687192	XPA		not provided, Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55471248.	NM_000380.4(XPA):c.283+1_283+6del GRCh37: Chr9:100455925-100455930 GRCh38: Chr9:97693643-97693648	XPA		Xeroderma pigmentosum group A	Likely pathogenic (Nov 1, 2017)	criteria provided, single submitter
Select item 55469349.	NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del) GRCh37: Chr9:100455972-100455977 GRCh38: Chr9:97693690-97693695	XPA		Xeroderma pigmentosum group A	Uncertain significance (Nov 6, 2017)	criteria provided, single submitter
Select item 55468950.	NM_000380.4(XPA):c.677T>A (p.Leu226Ter) GRCh37: Chr9:100437866 GRCh38: Chr9:97675584	XPA	L226, L184	Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55441151.	NM_000380.4(XPA):c.631dup (p.Arg211fs) GRCh37: Chr9:100447246-100447247 GRCh38: Chr9:97684964-97684965	XPA	R169fs, R211fs	Xeroderma pigmentosum group A	Likely pathogenic (Oct 17, 2017)	criteria provided, single submitter
Select item 55399252.	NM_000380.4(XPA):c.451A>T (p.Lys151Ter) GRCh37: Chr9:100449482 GRCh38: Chr9:97687200	XPA	K151, K109	Xeroderma pigmentosum group A	Likely pathogenic (Oct 5, 2017)	criteria provided, single submitter
Select item 55381653.	NM_000380.4(XPA):c.646C>T (p.Gln216Ter) GRCh37: Chr9:100447232 GRCh38: Chr9:97684950	XPA	Q216, Q174	not provided, Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Jan 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55344554.	NM_000380.4(XPA):c.666dup (p.Val223fs) GRCh37: Chr9:100447211-100447212 GRCh38: Chr9:97684929-97684930	XPA	V181fs, V223fs	not provided, Xeroderma pigmentosum, Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55339055.	NM_000380.4(XPA):c.338_339del (p.Met113fs) GRCh37: Chr9:100451866-100451867 GRCh38: Chr9:97689584-97689585	XPA	M113fs, M71fs	not provided, Xeroderma pigmentosum group A	Pathogenic/Likely pathogenic (Jun 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55336856.	NM_000380.4(XPA):c.378T>G (p.Cys126Trp) GRCh37: Chr9:100451827 GRCh38: Chr9:97689545	XPA	C126W, C84W	Xeroderma pigmentosum group A, Xeroderma pigmentosum	Conflicting interpretations of pathogenicity (Dec 29, 2021)	criteria provided, conflicting interpretations
Select item 55325557.	NM_000380.4(XPA):c.555+2T>A GRCh37: Chr9:100449376 GRCh38: Chr9:97687094	XPA		Xeroderma pigmentosum group A	Likely pathogenic (Aug 10, 2017)	criteria provided, single submitter
Select item 55312258.	NM_000380.4(XPA):c.756AGA[1] (p.Glu253del) GRCh37: Chr9:100437782-100437784 GRCh38: Chr9:97675500-97675502	XPA	E253del, E211del	Xeroderma pigmentosum group A	Uncertain significance (Jul 28, 2017)	criteria provided, single submitter
Select item 55253259.	NM_000380.4(XPA):c.732dup (p.Glu245Ter) GRCh37: Chr9:100437810-100437811 GRCh38: Chr9:97675528-97675529	XPA	E245, E203	Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55201660.	NM_000380.4(XPA):c.172+1G>A GRCh37: Chr9:100459402 GRCh38: Chr9:97697120	XPA		not provided, Xeroderma pigmentosum group A	Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55184161.	NM_000380.4(XPA):c.2T>C (p.Met1Thr) GRCh37: Chr9:100459573 GRCh38: Chr9:97697291	XPA	M1T	Xeroderma pigmentosum group A	Likely pathogenic (May 9, 2017)	criteria provided, single submitter
Select item 55180962.	NM_000380.4(XPA):c.631C>T (p.Arg211Ter) GRCh37: Chr9:100447247 GRCh38: Chr9:97684965	XPA	R211, R169	not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55177163.	NM_000380.4(XPA):c.439_441del (p.Glu147del) GRCh37: Chr9:100449492-100449494 GRCh38: Chr9:97687210-97687212	XPA	E147del, E105del	Xeroderma pigmentosum group A	Uncertain significance (May 15, 2017)	criteria provided, single submitter
Select item 55136264.	NM_000380.4(XPA):c.10del (p.Ala4fs) GRCh37: Chr9:100459565 GRCh38: Chr9:97697283	XPA	A4fs	Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55115365.	NM_000380.4(XPA):c.389G>A (p.Arg130Lys) GRCh37: Chr9:100451816 GRCh38: Chr9:97689534	XPA	R130K, R88K	Xeroderma pigmentosum group A	Uncertain significance (Mar 17, 2017)	criteria provided, single submitter
Select item 55090866.	NM_000380.4(XPA):c.548del (p.Lys183fs) GRCh37: Chr9:100449385 GRCh38: Chr9:97687103	XPA	K183fs, K141fs	Xeroderma pigmentosum group A	Likely pathogenic (Feb 28, 2017)	criteria provided, single submitter
Select item 55064667.	NM_000380.4(XPA):c.555G>C (p.Gln185His) GRCh37: Chr9:100449378 GRCh38: Chr9:97687096	XPA	Q185H, Q143H	Xeroderma pigmentosum, Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52360968.	NM_000380.4(XPA):c.438_443del (p.Gln146_Tyr148delinsHis) GRCh37: Chr9:100449490-100449495 GRCh38: Chr9:97687208-97687213	XPA		Xeroderma pigmentosum group A	Likely pathogenic (Jan 5, 2018)	criteria provided, single submitter
Select item 52360869.	NM_000380.4(XPA):c.772_785del (p.Arg258fs) GRCh37: Chr9:100437758-100437771 GRCh38: Chr9:97675476-97675489	XPA	R216fs, R258fs	Xeroderma pigmentosum group A, not provided	Pathogenic/Likely pathogenic (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43036770.	NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) GRCh37: Chr9:100451882 GRCh38: Chr9:97689600	XPA	C108Y, C66Y	not provided, Xeroderma pigmentosum group A	Conflicting interpretations of pathogenicity (Feb 22, 2018)	criteria provided, conflicting interpretations
Select item 37493371.	NM_000380.4(XPA):c.648_649del (p.Lys217fs) GRCh37: Chr9:100447229-100447230 GRCh38: Chr9:97684947-97684948	XPA	K217fs, K175fs	Xeroderma pigmentosum, not provided	Pathogenic (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36409472.	NM_000380.3(XPA):c.-88C>A GRCh37: Chr9:100459662 GRCh38: Chr9:97697380	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36409373.	NM_000380.3(XPA):c.-74A>C GRCh37: Chr9:100459648 GRCh38: Chr9:97697366	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36409274.	NM_000380.3(XPA):c.-66T>G GRCh37: Chr9:100459640 GRCh38: Chr9:97697358	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36409175.	NM_000380.4(XPA):c.-43G>A GRCh37: Chr9:100459617 GRCh38: Chr9:97697335	XPA		Xeroderma pigmentosum group A	Uncertain significance (Apr 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36409076.	NM_000380.4(XPA):c.172+11C>T GRCh37: Chr9:100459392 GRCh38: Chr9:97697110	XPA		Xeroderma pigmentosum group A	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36408877.	NM_000380.4(XPA):c.731A>G (p.His244Arg) GRCh37: Chr9:100437812 GRCh38: Chr9:97675530	XPA	H244R, H202R	not specified, not provided, Xeroderma pigmentosum group A	Uncertain significance (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36408778.	NM_000380.4(XPA):c.*77C>A GRCh37: Chr9:100437644 GRCh38: Chr9:97675362	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36408679.	NM_000380.4(XPA):c.*203C>G GRCh37: Chr9:100437518 GRCh38: Chr9:97675236	XPA		not provided, Xeroderma pigmentosum group A	Benign (Feb 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36408580.	NM_000380.4(XPA):c.*234C>A GRCh37: Chr9:100437487 GRCh38: Chr9:97675205	XPA		not provided, Xeroderma pigmentosum group A	Benign (Apr 16, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36408381.	NM_000380.4(XPA):c.*256G>C GRCh37: Chr9:100437465 GRCh38: Chr9:97675183	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36408282.	NM_000380.4(XPA):c.*278T>C GRCh37: Chr9:100437443 GRCh38: Chr9:97675161	XPA		not provided, Xeroderma pigmentosum group A	Benign (Feb 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36408183.	NM_000380.4(XPA):c.*428T>C GRCh37: Chr9:100437293 GRCh38: Chr9:97675011	XPA		Xeroderma pigmentosum group A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 26718684.	NM_000380.4(XPA):c.374del (p.Thr125fs) GRCh37: Chr9:100451831 GRCh38: Chr9:97689549	XPA	T125fs, T83fs	Xeroderma pigmentosum group A	Pathogenic (Dec 1, 2015)	criteria provided, single submitter
Select item 26718585.	NM_000380.4(XPA):c.553C>T (p.Gln185Ter) GRCh37: Chr9:100449380 GRCh38: Chr9:97687098	XPA	Q185, Q143	not provided, Xeroderma pigmentosum group A	Pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26468486.	NM_000380.4(XPA):c.390-1G>C GRCh37: Chr9:100449544 GRCh38: Chr9:97687262	XPA		Xeroderma pigmentosum, not provided, Xeroderma pigmentosum group A	Pathogenic (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26468387.	NM_000380.4(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) GRCh37: Chr9:100451867-100451870 GRCh38: Chr9:97689585-97689588	XPA		Xeroderma pigmentosum group A	not provided	no assertion provided
Select item 25947588.	NM_004628.5(XPC):c.901-22A>G GRCh37: Chr3:14201352 GRCh38: Chr3:14159852	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25947489.	NM_004628.5(XPC):c.780-15C>T GRCh37: Chr3:14206448 GRCh38: Chr3:14164948	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25947390.	NM_004628.5(XPC):c.622-16C>G GRCh37: Chr3:14207101 GRCh38: Chr3:14165601	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25947291.	NM_004628.5(XPC):c.621+44C>G GRCh37: Chr3:14208625 GRCh38: Chr3:14167125	XPC		not provided, not specified, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25947192.	NM_004628.5(XPC):c.2605-40A>G GRCh37: Chr3:14187699 GRCh38: Chr3:14146199	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25947093.	NM_004628.5(XPC):c.2604+28C>G GRCh37: Chr3:14188762 GRCh38: Chr3:14147262	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25946994.	NM_004628.5(XPC):c.2251-37C>G GRCh37: Chr3:14190268 GRCh38: Chr3:14148768	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25946595.	NM_004628.5(XPC):c.-27G>C GRCh37: Chr3:14220095 GRCh38: Chr3:14178595	XPC		not specified, not provided, Xeroderma pigmentosum group A, Xeroderma pigmentosum, group C	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22128496.	NM_004628.5(XPC):c.2034-1G>A GRCh37: Chr3:14193917 GRCh38: Chr3:14152417	XPC		Xeroderma pigmentosum group A	Likely pathogenic (Jun 27, 2014)	criteria provided, single submitter
Select item 19021497.	NM_004628.5(XPC):c.2251-6A>C GRCh37: Chr3:14190237 GRCh38: Chr3:14148737	XPC		not provided, not specified, Xeroderma pigmentosum, group C, Xeroderma pigmentosum group A	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19020798.	NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) GRCh37: Chr9:100449387-100449388 GRCh38: Chr9:97687105-97687106	XPA	L140fs, L182fs	Xeroderma pigmentosum group A	Pathogenic (Dec 29, 2009)	criteria provided, single submitter
Select item 19020699.	NM_000380.4(XPA):c.-4A>G GRCh37: Chr9:100459578 GRCh38: Chr9:97697296	XPA		not specified, not provided, Xeroderma pigmentosum group A	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135489100.	NM_004628.5(XPC):c.1475G>A (p.Arg492His) GRCh37: Chr3:14199908 GRCh38: Chr3:14158408	XPC	R492H, R299H, R486H	not specified, not provided, Xeroderma pigmentosum, group C, Xeroderma pigmentosum group A	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts

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