7508[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 343511	NM_024334.3(TMEM43):c.*115T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 343512	NM_024334.3(TMEM43):c.*217G>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 343515	NM_024334.3(TMEM43):c.*277C>T	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 343516	NM_024334.3(TMEM43):c.*312A>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 343518	NM_024334.3(TMEM43):c.*463A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 343520	NM_024334.3(TMEM43):c.*719G>T	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 343522	NM_024334.3(TMEM43):c.*766CAAAA[1]	TMEM43, XPC	Microsatellite (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GBenign/Likely benign
Select item 343523	NM_024334.3(TMEM43):c.*779A>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 343527	NM_024334.3(TMEM43):c.*924T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343532	NM_024334.3(TMEM43):c.*1160A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 343535	NM_024334.3(TMEM43):c.*1374T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum +2 more	GLikely benign
Select item 343536	NM_024334.3(TMEM43):c.*1424T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 343548	NM_004628.5(XPC):c.*792A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343549	NM_004628.5(XPC):c.*756T>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343550	NM_004628.5(XPC):c.*684G>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 900776	NM_004628.5(XPC):c.*682A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900777	NM_004628.5(XPC):c.*648C>T	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900778	NM_004628.5(XPC):c.*624A>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343551	NM_004628.5(XPC):c.*618A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 900779	NM_004628.5(XPC):c.*611T>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 343552	NM_004628.5(XPC):c.*611T>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 343553	NM_004628.5(XPC):c.*483A>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343554	NM_004628.5(XPC):c.*452G>A	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343555	NM_004628.5(XPC):c.*428G>A	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 343556	NM_004628.5(XPC):c.*411dup	XPC	Duplication (3 prime UTR variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 369401	NC_000003.12:g.14145542_14145545del	TMEM43, XPC	Deletion (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 343557	NM_004628.5(XPC):c.*270A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GLikely benign
Select item 343558	NM_004628.5(XPC):c.*192T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +3 more	GLikely benign
Select item 550681	NM_004628.5(XPC):c.*156G>A	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902445	NM_004628.5(XPC):c.*139G>T	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343559	NM_004628.5(XPC):c.*133G>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 343560	NM_004628.5(XPC):c.*96C>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 343561	NM_004628.5(XPC):c.*89G>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	TMEM43, XPC (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1078103	NM_004628.5(XPC):c.2814G>A (p.Glu938=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2744461	NM_004628.5(XPC):c.2808A>G (p.Pro936=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889647	NM_004628.5(XPC):c.2799C>T (p.His933=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1626787	NM_004628.5(XPC):c.2796C>T (p.Ser932=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778727	NM_004628.5(XPC):c.2790A>T (p.Ala930=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2127521	NM_004628.5(XPC):c.2787A>G (p.Ala929=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2757093	NM_004628.5(XPC):c.2784A>G (p.Lys928=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 557637	NM_004628.5(XPC):c.2782A>T (p.Lys928Ter)	XPC (K928* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135472	NM_004628.5(XPC):c.2782A>C (p.Lys928Gln)	XPC (K928Q +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +2 more	GBenign/Likely benign
Select item 2306529	NM_004628.5(XPC):c.2781G>C (p.Lys927Asn)	XPC (K734N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 555045	NM_004628.5(XPC):c.2765_2773del (p.Lys922_Lys924del)	XPC	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2157016	NM_004628.5(XPC):c.2772A>G (p.Lys924=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1696256	NM_004628.5(XPC):c.2765A>C (p.Lys922Thr)	XPC (K729T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1653483	NM_004628.5(XPC):c.2763G>A (p.Lys921=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1607069	NM_004628.5(XPC):c.2757G>T (p.Gly919=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002120	NM_004628.5(XPC):c.2754T>C (p.Gly918=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653580	NM_004628.5(XPC):c.2748G>A (p.Leu916=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1083565	NM_004628.5(XPC):c.2746C>T (p.Leu916=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1130891	NM_004628.5(XPC):c.2730T>C (p.Asp910=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 558629	NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del)	XPC (E909del +4 more)	Microsatellite (inframe_deletion +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2494691	NM_004628.5(XPC):c.2723G>C (p.Arg908Pro)	XPC (R715P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2413541	NM_004628.5(XPC):c.2722C>A (p.Arg908=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 551033	NM_004628.5(XPC):c.2722C>T (p.Arg908Ter)	XPC (R908* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 1096892	NM_004628.5(XPC):c.2715T>C (p.Pro905=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2695472	NM_004628.5(XPC):c.2709C>A (p.Ser903=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748999	NM_004628.5(XPC):c.2706C>T (p.Ala902=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 556883	NM_004628.5(XPC):c.2703del (p.Ala902fs)	XPC (A709fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 1986200	NM_004628.5(XPC):c.2700G>A (p.Leu900=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1152276	NM_004628.5(XPC):c.2697A>C (p.Ile899=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1642249	NM_004628.5(XPC):c.2691C>A (p.Ala897=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896164	NM_004628.5(XPC):c.2688G>C (p.Ala896=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718684	NM_004628.5(XPC):c.2688G>A (p.Ala896=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015995	NM_004628.5(XPC):c.2676T>C (p.Ser892=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827580	NM_004628.5(XPC):c.2673C>T (p.Ser891=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1929995	NM_004628.5(XPC):c.2664G>A (p.Glu888=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857359	NM_004628.5(XPC):c.2661G>A (p.Glu887=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2424329	NM_004628.5(XPC):c.2655T>C (p.Asp885=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1692828	NM_004628.5(XPC):c.2655T>A (p.Asp885Glu)	XPC (D692E +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 2530111	NM_004628.5(XPC):c.2653G>C (p.Asp885His)	XPC (D692H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1083755	NM_004628.5(XPC):c.2649T>C (p.Ser883=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860796	NM_004628.5(XPC):c.2646C>G (p.Leu882=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1107703	NM_004628.5(XPC):c.2640T>C (p.Gly880=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1160674	NM_004628.5(XPC):c.2634A>G (p.Ala878=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1094871	NM_004628.5(XPC):c.2634A>C (p.Ala878=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1692827	NM_004628.5(XPC):c.2633C>T (p.Ala878Val)	XPC (A685V +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 553308	NM_004628.5(XPC):c.2633del (p.Ala878fs)	XPC (A878fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135474	NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)	XPC (A878G +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 1091148	NM_004628.5(XPC):c.2625C>T (p.His875=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1132057	NM_004628.5(XPC):c.2622C>T (p.Pro874=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1115584	NM_004628.5(XPC):c.2622C>G (p.Pro874=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 135473	NM_004628.5(XPC):c.2621C>T (p.Pro874Leu)	XPC (P874L +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2787434	NM_004628.5(XPC):c.2616A>G (p.Ala872=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1658750	NM_004628.5(XPC):c.2613A>C (p.Ala871=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630396	NM_004628.5(XPC):c.2605-9_2609del	XPC	Deletion (splice acceptor variant)	XPC-related disorder	GUncertain significance
Select item 1692826	NM_004628.5(XPC):c.2605A>G (p.Ser869Gly)	XPC (S676G +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 3240752	NM_004628.5(XPC):c.2605-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 550023	NM_004628.5(XPC):c.2605-2A>T	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 3002042	NM_004628.5(XPC):c.2605-4C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign

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