6117[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 147275	GRCh38/hg38 17p13.3(chr17:1799751-1955957)x1	LOC125177405, LOC130059893 +7 more	Copy number loss	See cases	GBenign
Select item 150607	GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3	DPH1, HIC1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 2688031	NM_002945.5(RPA1):c.12A>G (p.Gln4=)	LOC130059894, RPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 718295	NM_002945.5(RPA1):c.34-5C>A	RPA1	Single nucleotide variant	not provided	GBenign
Select item 3155899	NM_002945.5(RPA1):c.50G>C (p.Gly17Ala)	RPA1 (G17A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718296	NM_002945.5(RPA1):c.117G>A (p.Pro39=)	RPA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357884	NM_002945.5(RPA1):c.155C>G (p.Thr52Ser)	RPA1 (T39S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155897	NM_002945.5(RPA1):c.171G>A (p.Met57Ile)	RPA1 (M44I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386694	NM_002945.5(RPA1):c.268G>A (p.Gly90Arg)	RPA1 (G90R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687931	NM_002945.5(RPA1):c.272+48A>G	RPA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687984	NM_002945.5(RPA1):c.273-44A>G	RPA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2275589	NM_002945.5(RPA1):c.274A>G (p.Arg92Gly)	RPA1 (R92G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398600	NM_002945.5(RPA1):c.314C>G (p.Ala105Gly)	RPA1 (A105G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261283	NM_002945.5(RPA1):c.336T>G (p.Ile112Met)	RPA1 (I112M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479558	NM_002945.5(RPA1):c.438T>G (p.Asn146Lys)	RPA1 (N146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253772	NM_002945.5(RPA1):c.469A>G (p.Lys157Glu)	RPA1 (K144E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328996	NM_002945.5(RPA1):c.472G>A (p.Ala158Thr)	RPA1 (A145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328997	NM_002945.5(RPA1):c.473C>T (p.Ala158Val)	RPA1 (A145V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254992	NM_002945.5(RPA1):c.662T>A (p.Leu221His)	RPA1 (L208H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342932	NM_002945.5(RPA1):c.680T>C (p.Val227Ala)	RPA1 (V227A +1 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	GPathogenic
Select item 1342931	NM_002945.5(RPA1):c.718G>A (p.Glu240Lys)	RPA1 (E240K +1 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	GPathogenic
Select item 3155900	NM_002945.5(RPA1):c.731A>G (p.Lys244Arg)	RPA1 (K244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315114	NM_002945.5(RPA1):c.746T>C (p.Ile249Thr)	RPA1 (I236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327121	NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)	RPA1 (T257A +1 more)	Single nucleotide variant (missense variant)	RPA1-related short telomere syndrome	GUncertain significance
Select item 2533403	NM_002945.5(RPA1):c.841A>G (p.Asn281Asp)	RPA1 (N268D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305948	NM_002945.5(RPA1):c.842A>G (p.Asn281Ser)	RPA1 (N268S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155901	NM_002945.5(RPA1):c.871G>A (p.Asp291Asn)	RPA1 (D278N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209311	NM_002945.5(RPA1):c.875A>G (p.Asp292Gly)	RPA1 (D279G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404150	NM_002945.5(RPA1):c.911G>A (p.Gly304Glu)	RPA1 (G291E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155891	NM_002945.5(RPA1):c.1025C>T (p.Ala342Val)	RPA1 (A342V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688119	NM_002945.5(RPA1):c.1056C>T (p.Ser352=)	RPA1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2599521	NM_002945.5(RPA1):c.1069A>T (p.Thr357Ser)	RPA1 (T344S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688148	NM_002945.5(RPA1):c.1093-25T>C	RPA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3155892	NM_002945.5(RPA1):c.1132A>G (p.Ile378Val)	RPA1 (I365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520868	NM_002945.5(RPA1):c.1159G>A (p.Gly387Ser)	RPA1 (G374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542627	NM_002945.5(RPA1):c.1163G>C (p.Gly388Ala)	RPA1 (G375A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155893	NM_002945.5(RPA1):c.1202C>T (p.Ala401Val)	RPA1 (A401V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266531	NM_002945.5(RPA1):c.1267G>A (p.Asp423Asn)	RPA1 (D410N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288838	NM_002945.5(RPA1):c.1271G>A (p.Gly424Asp)	RPA1 (G424D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368612	NM_002945.5(RPA1):c.1276T>G (p.Ser426Ala)	RPA1 (S413A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234891	NM_002945.5(RPA1):c.1313G>A (p.Ser438Asn)	RPA1 (S425N +1 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	GUncertain significance
Select item 3155895	NM_002945.5(RPA1):c.1318A>G (p.Thr440Ala)	RPA1 (T427A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033244	NM_002945.5(RPA1):c.1335G>T (p.Leu445Phe)	RPA1 (L432F +1 more)	Single nucleotide variant (missense variant)	RPA1-related disorder	GUncertain significance
Select item 2271465	NM_002945.5(RPA1):c.1460A>G (p.Asn487Ser)	RPA1 (N487S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688163	NM_002945.5(RPA1):c.1551+29G>A	RPA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2511924	NM_002945.5(RPA1):c.1567T>A (p.Phe523Ile)	RPA1 (F510I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688149	NM_002945.5(RPA1):c.1605T>C (p.Ser535=)	RPA1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3155896	NM_002945.5(RPA1):c.1664A>G (p.Glu555Gly)	RPA1 (E555G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155898	NM_002945.5(RPA1):c.1727T>C (p.Val576Ala)	RPA1 (V563A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297031	NM_002945.5(RPA1):c.1757G>T (p.Arg586Leu)	RPA1 (R573L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 1809144	GRCh37/hg19 17p13.3(chr17:1689217-1856543)x1	RPA1, RTN4RL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1340313	GRCh37/hg19 17p13.3(chr17:1667995-1791653)x3	RPA1, SERPINF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 816555	GRCh37/hg19 17p13.3(chr17:1737911-2233965)x1	SMG6, MIR212 +8 more	Copy number loss	not provided	GUncertain significance

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