ClinVar for Gene (Select 267004) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378041	NM_001277058.2(ERCC6):c.2253A>C (p.Lys751Asn)	ERCC6, PGBD3 (K283N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377417	NM_001277058.2(ERCC6):c.2758A>G (p.Met920Val)	ERCC6, PGBD3 (M452V +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2	GUncertain significance
Select item 3369309	NM_001277058.2(ERCC6):c.2254C>G (p.Gln752Glu)	ERCC6, PGBD3 (Q284E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3305967	NM_170753.3(PGBD3):c.1135C>T (p.His379Tyr)	ERCC6, PGBD3 (H379Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305966	NM_170753.3(PGBD3):c.1420C>T (p.Arg474Trp)	ERCC6, PGBD3 (R474W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305965	NM_170753.3(PGBD3):c.50A>T (p.Asp17Val)	ERCC6, PGBD3 (D17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305964	NM_170753.3(PGBD3):c.352G>A (p.Asp118Asn)	ERCC6, PGBD3 (D118N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244928	NC_000010.10:g.(?_50732059)_(50732843_?)del	ERCC6, PGBD3	Deletion	not provided	GPathogenic
Select item 3239663	NM_001277058.2(ERCC6):c.3091C>T (p.Arg1031Ter)	ERCC6, PGBD3 (R1031* +1 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 3234260	NM_001277058.2(ERCC6):c.2740C>G (p.Gln914Glu)	ERCC6, PGBD3 (Q446E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3211761	NM_170753.3(PGBD3):c.844T>C (p.Cys282Arg)	ERCC6, PGBD3 (C282R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211760	NM_170753.3(PGBD3):c.806T>C (p.Phe269Ser)	ERCC6, PGBD3 (F269S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211759	NM_170753.3(PGBD3):c.805T>C (p.Phe269Leu)	ERCC6, PGBD3 (F737L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211758	NM_170753.3(PGBD3):c.701A>G (p.Asn234Ser)	ERCC6, PGBD3 (N702S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211757	NM_170753.3(PGBD3):c.463A>G (p.Ile155Val)	ERCC6, PGBD3 (I155V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211756	NM_170753.3(PGBD3):c.412G>A (p.Val138Ile)	ERCC6, PGBD3 (V606I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211755	NM_170753.3(PGBD3):c.400G>A (p.Asp134Asn)	ERCC6, PGBD3 (D602N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211754	NM_170753.3(PGBD3):c.1480G>T (p.Val494Phe)	ERCC6, PGBD3 (V494F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211753	NM_170753.3(PGBD3):c.1474G>A (p.Glu492Lys)	ERCC6, PGBD3 (E492K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211751	NM_170753.3(PGBD3):c.1396G>A (p.Ala466Thr)	ERCC6, PGBD3 (A934T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3053719	NM_001277058.2(ERCC6):c.2106T>C (p.Asn702=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3053001	NM_170753.3(PGBD3):c.186G>A (p.Ala62=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related disorder	GLikely benign
Select item 3049394	NM_001277058.2(ERCC6):c.2247G>T (p.Gly749=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related disorder	GLikely benign
Select item 3047644	NM_000124.4(ERCC6):c.1284A>G (p.Pro428=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related disorder	GLikely benign
Select item 3044195	NM_001277058.2(ERCC6):c.1790C>T (p.Thr597Ile)	ERCC6, PGBD3 (T129I +1 more)	Single nucleotide variant (missense variant +1 more)	ERCC6-related disorder	GLikely benign
Select item 3038141	NM_170753.3(PGBD3):c.456C>T (p.Asp152=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related disorder	GLikely benign
Select item 3038133	NM_170753.3(PGBD3):c.1599T>C (p.Pro533=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related disorder	GLikely benign
Select item 3021641	NM_000124.4(ERCC6):c.1397+20A>G	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015575	NM_000124.4(ERCC6):c.1397+18A>G	PGBD3, ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859673	NM_000124.4(ERCC6):c.1182C>T (p.Asp394=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856650	NM_000124.4(ERCC6):c.1389G>A (p.Gln463=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847031	NM_000124.4(ERCC6):c.1251G>T (p.Val417=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831430	NM_000124.4(ERCC6):c.1329A>C (p.Gly443=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822826	NM_000124.4(ERCC6):c.1246_1249del (p.Lys416fs)	ERCC6, PGBD3 (K416fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2814817	NM_000124.4(ERCC6):c.1240C>T (p.Gln414Ter)	ERCC6, PGBD3 (Q414*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2759385	NM_000124.4(ERCC6):c.1397+9G>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695043	NM_000124.4(ERCC6):c.1209G>A (p.Glu403=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693474	NM_000124.4(ERCC6):c.1152A>G (p.Glu384=)	PGBD3, ERCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693465	NM_000124.4(ERCC6):c.1359A>C (p.Arg453=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2640459	NM_001277058.2(ERCC6):c.1488A>G (p.Gln496=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640458	NM_001277058.2(ERCC6):c.1520A>T (p.Asp507Val)	ERCC6, PGBD3 (D39V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640457	NM_001277058.2(ERCC6):c.1683G>T (p.Thr561=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640456	NM_001277058.2(ERCC6):c.1752A>G (p.Lys584=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640455	NM_001277058.2(ERCC6):c.1755C>T (p.Ala585=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640454	NM_001277058.2(ERCC6):c.2362A>G (p.Thr788Ala)	ERCC6, PGBD3 (T320A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640453	NM_001277058.2(ERCC6):c.2442A>G (p.Gln814=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607312	NM_170753.3(PGBD3):c.442C>A (p.Leu148Ile)	ERCC6, PGBD3 (L616I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573367	NM_001277058.2(ERCC6):c.2881delinsAT (p.Leu961fs)	ERCC6, PGBD3 (L493fs +1 more)	Indel (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2532216	NM_000124.4(ERCC6):c.1201G>A (p.Asp401Asn)	ERCC6, PGBD3 (D401N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503130	NM_001277058.2(ERCC6):c.2378A>G (p.Tyr793Cys)	ERCC6, PGBD3 (Y325C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2475324	NM_170753.3(PGBD3):c.1001A>G (p.Gln334Arg)	ERCC6, PGBD3 (Q334R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429127	NM_001277058.2(ERCC6):c.3166G>A (p.Val1056Ile)	ERCC6, PGBD3 (V1056I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389282	NM_170753.3(PGBD3):c.1552C>T (p.Arg518Cys)	ERCC6, PGBD3 (R518C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371315	NM_170753.3(PGBD3):c.1123G>A (p.Val375Met)	ERCC6, PGBD3 (V375M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359473	NM_170753.3(PGBD3):c.859C>T (p.Arg287Trp)	ERCC6, PGBD3 (R755W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342176	NM_170753.3(PGBD3):c.1337A>G (p.Gln446Arg)	ERCC6, PGBD3 (Q446R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333369	NM_170753.3(PGBD3):c.710T>G (p.Leu237Trp)	ERCC6, PGBD3 (L705W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297546	NM_170753.3(PGBD3):c.91G>A (p.Glu31Lys)	ERCC6, PGBD3 (E31K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293003	NM_170753.3(PGBD3):c.133G>C (p.Glu45Gln)	ERCC6, PGBD3 (E45Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288664	NM_170753.3(PGBD3):c.406T>C (p.Phe136Leu)	ERCC6, PGBD3 (F604L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216128	NM_170753.3(PGBD3):c.1198G>C (p.Asp400His)	ERCC6, PGBD3 (D400H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211963	NM_170753.3(PGBD3):c.278C>T (p.Thr93Met)	ERCC6, PGBD3 (T561M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2202676	NM_001277058.2(ERCC6):c.3029G>A (p.Arg1010His)	ERCC6, PGBD3 (R542H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2198816	NM_000124.4(ERCC6):c.1339C>T (p.Arg447Trp)	ERCC6, PGBD3 (R447W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2197452	NM_001277058.2(ERCC6):c.2785G>A (p.Gly929Arg)	ERCC6, PGBD3 (G929R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2173293	NM_000124.4(ERCC6):c.1358G>A (p.Arg453Gln)	ERCC6, PGBD3 (R453Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171713	NM_000124.4(ERCC6):c.1178C>T (p.Ala393Val)	ERCC6, PGBD3 (A393V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2165448	NM_000124.4(ERCC6):c.1397+6T>C	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2160763	NM_000124.4(ERCC6):c.1191A>T (p.Gly397=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2150284	NM_000124.4(ERCC6):c.1367G>A (p.Gly456Glu)	ERCC6, PGBD3 (G456E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2147741	NM_000124.4(ERCC6):c.1395A>G (p.Leu465=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2147213	NM_000124.4(ERCC6):c.1397+3C>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2128255	NM_000124.4(ERCC6):c.1354T>C (p.Tyr452His)	ERCC6, PGBD3 (Y452H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120329	NM_000124.4(ERCC6):c.1185G>T (p.Leu395=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117843	NM_000124.4(ERCC6):c.1179G>C (p.Ala393=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117373	NM_000124.4(ERCC6):c.1155T>C (p.Asp385=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099338	NM_000124.4(ERCC6):c.1356C>A (p.Tyr452Ter)	ERCC6, PGBD3 (Y452*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2046253	NM_000124.4(ERCC6):c.1308T>A (p.Ala436=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038711	NM_000124.4(ERCC6):c.1204T>C (p.Tyr402His)	ERCC6, PGBD3 (Y402H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038145	NM_000124.4(ERCC6):c.1397+14del	ERCC6, PGBD3	Deletion (intron variant)	not provided	GBenign
Select item 2025525	NM_000124.4(ERCC6):c.1283dup (p.Ser429fs)	ERCC6, PGBD3 (S429fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2002000	NM_000124.4(ERCC6):c.1236A>G (p.Lys412=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2000019	NM_000124.4(ERCC6):c.1187C>G (p.Ser396Cys)	ERCC6, PGBD3 (S396C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988398	NM_000124.4(ERCC6):c.1391G>T (p.Arg464Leu)	ERCC6, PGBD3 (R464L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1966387	NM_000124.4(ERCC6):c.1299A>G (p.Glu433=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947623	NM_000124.4(ERCC6):c.1153G>C (p.Asp385His)	ERCC6, PGBD3 (D385H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914277	NM_000124.4(ERCC6):c.1323AGG[6] (p.Gly446_Arg447insGly)	ERCC6, PGBD3	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1913792	NM_000124.4(ERCC6):c.1322_1327dup (p.Gly442_Gly443insGluGly)	ERCC6, PGBD3	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic

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