PGBD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
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 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
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 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147898	GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1	C10orf71, C10orf71-AS1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 646404	NC_000010.11:g.(?_49458805)_(49665056_?)del	LOC130003804, LOC130003805 +10 more	Deletion	not provided	GPathogenic
Select item 1270404	NM_000124.4(ERCC6):c.1397+8792G>A	ERCC6, PGBD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1295012	NM_000124.4(ERCC6):c.1397+8762T>A	ERCC6, PGBD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1706177	NM_000124.4(ERCC6):c.1397+8746A>G	ERCC6, PGBD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 806467	NM_001277058.2(ERCC6):c.3107A>G (p.His1036Arg)	ERCC6, PGBD3 (H568R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1256026	NM_001277058.2(ERCC6):c.3100G>T (p.Glu1034Ter)	ERCC6, PGBD3 (E1034* +1 more)	Single nucleotide variant (nonsense +1 more)	Genetic non-acquired premature ovarian failure	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 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 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 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 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 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 1265163	NM_001277058.2(ERCC6):c.2881C>T (p.Leu961=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 1712917	NM_001277058.2(ERCC6):c.2609G>A (p.Arg870Gln)	ERCC6, PGBD3 (R402Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 806468	NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)	ERCC6, PGBD3 (V851A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GUncertain significance
Select item 1266989	NM_001277058.2(ERCC6):c.2549G>A (p.Arg850Lys)	ERCC6, PGBD3 (R382K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 1194021	NM_001277058.2(ERCC6):c.2249G>A (p.Cys750Tyr)	ERCC6, PGBD3 (C282Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 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 225904	NM_001277058.2(ERCC6):c.2237G>A (p.Gly746Asp)	ERCC6, PGBD3 (G746D +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 11	GPathogenic
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 788361	NM_001277058.2(ERCC6):c.2157C>T (p.Ser719=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 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 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 1049709	NM_001277058.2(ERCC6):c.2027T>G (p.Val676Gly)	ERCC6, PGBD3 (V208G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 765824	NM_170753.3(PGBD3):c.438T>C (p.Leu146=)	PGBD3, ERCC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 932087	NM_170753.3(PGBD3):c.292C>T (p.Gln98Ter)	PGBD3, ERCC6 (Q566* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	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 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 1712714	NM_001277058.2(ERCC6):c.1672G>C (p.Val558Leu)	ERCC6, PGBD3 (V558L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 1273595	NM_000124.4(ERCC6):c.1397+6737T>A	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244462	NM_000124.4(ERCC6):c.1397+231G>C	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292990	NM_000124.4(ERCC6):c.1397+194C>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1617850	NM_000124.4(ERCC6):c.1397+16T>C	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038145	NM_000124.4(ERCC6):c.1397+14del	ERCC6, PGBD3	Deletion (intron variant)	not provided	GBenign
Select item 2759385	NM_000124.4(ERCC6):c.1397+9G>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	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 1381701	NM_000124.4(ERCC6):c.1397+4G>A	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2147213	NM_000124.4(ERCC6):c.1397+3C>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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