2073[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	MCF2L-AS1, METTL21C +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130009994, LOC130009995 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	ABCC4, BIVM +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC130010070, LOC130010071 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130010106, LOC130010107 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	FGF14-IT1, FKSG29 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	LOC110008580, LOC110120930 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	ABHD13, ARGLU1 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	LOC130010059, LOC130010060 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 150092	GRCh38/hg38 13q32.3-33.2(chr13:101095590-105074548)x1	BIVM, BIVM-ERCC5 +40 more	Copy number loss	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 58281	GRCh38/hg38 13q33.1(chr13:102516631-102862008)x3	BIVM, BIVM-ERCC5 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58282	GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3	BIVM, BIVM-ERCC5 +9 more	Copy number gain	See cases	GUncertain significance
Select item 1242141	NM_001204425.2(BIVM-ERCC5):c.1450+5696G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273170	NM_001204425.2(BIVM-ERCC5):c.1450+5746G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238248	NM_001204425.2(BIVM-ERCC5):c.1450+5764T>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264211	NM_001204425.2(BIVM-ERCC5):c.1450+5918C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261165	NM_001204425.2(BIVM-ERCC5):c.1450+6018G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369031	NM_001204425.2(BIVM-ERCC5):c.1450+6024A>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 369032	NM_001204425.2(BIVM-ERCC5):c.1450+6027C>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +1 more	GBenign/Likely benign
Select item 310903	NM_000123.3(ERCC5):c.-419A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 882587	NM_000123.3(ERCC5):c.-380C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310904	NM_000123.3(ERCC5):c.-242T>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 310905	NM_000123.3(ERCC5):c.-241G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310906	NM_000123.4(ERCC5):c.-200G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 883373	NM_000123.4(ERCC5):c.-192A>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310907	NM_000123.4(ERCC5):c.-156C>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 883374	NM_000123.4(ERCC5):c.-146A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310908	NM_000123.4(ERCC5):c.-126A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310909	NM_000123.4(ERCC5):c.-74G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 310910	NM_000123.4(ERCC5):c.-72C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 135536	NM_000123.4(ERCC5):c.-1C>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant +1 more)	not specified	Gnot provided
Select item 135535	NM_000123.4(ERCC5):c.-1C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 2643917	NM_000123.4(ERCC5):c.6G>A (p.Gly2=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2445355	NM_000123.4(ERCC5):c.11A>C (p.Gln4Pro)	BIVM-ERCC5, ERCC5 (Q4P)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GLikely pathogenic
Select item 881013	NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)	ERCC5, BIVM-ERCC5 (E11A)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 1048940	NM_000123.4(ERCC5):c.48G>A (p.Gln16=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 134159	NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	BIVM-ERCC5, ERCC5 (P19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1319536	NM_000123.4(ERCC5):c.62C>G (p.Ala21Gly)	ERCC5, BIVM-ERCC5 (A21G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 881014	NM_000123.4(ERCC5):c.76A>G (p.Ile26Val)	BIVM-ERCC5, ERCC5 (I26V)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G +2 more	GLikely benign
Select item 1319535	NM_000123.4(ERCC5):c.78C>G (p.Ile26Met)	BIVM-ERCC5, ERCC5 (I26M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 41495	NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)	BIVM-ERCC5, ERCC5 (A28D)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G	GPathogenic
Select item 2873453	NM_000123.4(ERCC5):c.88+3A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2961186	NM_000123.4(ERCC5):c.88+16_88+17insCTTAAGTCCTAACGC	BIVM-ERCC5, ERCC5	Insertion (intron variant)	not provided	GLikely benign
Select item 1187635	NM_000123.4(ERCC5):c.88+202G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264695	NM_000123.4(ERCC5):c.89-274dup	BIVM-ERCC5, ERCC5	Duplication (intron variant)	not provided	GBenign
Select item 1180037	NM_000123.4(ERCC5):c.89-155G>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190278	NM_000123.4(ERCC5):c.89-137T>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273217	NM_000123.4(ERCC5):c.89-124A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 881015	NM_000123.4(ERCC5):c.89-10A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2445364	NM_000123.4(ERCC5):c.92T>C (p.Ile31Thr)	BIVM-ERCC5, ERCC5 (I31T +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 310911	NM_000123.4(ERCC5):c.127C>T (p.Arg43Trp)	BIVM-ERCC5, ERCC5 (R43W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2661926	NM_000123.4(ERCC5):c.128G>A (p.Arg43Gln)	BIVM-ERCC5, ERCC5 (R43Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129009	NM_000123.4(ERCC5):c.138T>C (p.His46=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1312567	NM_000123.4(ERCC5):c.160C>T (p.His54Tyr)	BIVM-ERCC5, ERCC5 (H508Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902655	NM_000123.4(ERCC5):c.193C>T (p.Leu65Phe)	ERCC5, BIVM-ERCC5 (L519F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718152	NM_000123.4(ERCC5):c.200T>G (p.Phe67Cys)	BIVM-ERCC5, ERCC5 (F521C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064167	NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)	BIVM-ERCC5, ERCC5 (R523* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 2380373	NM_000123.4(ERCC5):c.211C>T (p.Arg71Cys)	BIVM-ERCC5, ERCC5 (R71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 134176	NM_000123.4(ERCC5):c.212G>A (p.Arg71His)	BIVM-ERCC5, ERCC5 (R71H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 16572	NM_000123.4(ERCC5):c.215C>A (p.Pro72His)	BIVM-ERCC5, ERCC5 (P72H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group G/Cockayne syndrome	GPathogenic
Select item 881016	NM_000123.4(ERCC5):c.246A>C (p.Leu82=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 2636488	NM_000123.4(ERCC5):c.264+1del	BIVM-ERCC5, ERCC5	Deletion (splice donor variant)	ERCC5-related condition	GPathogenic
Select item 1049551	NM_000123.4(ERCC5):c.264+4A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 255160	NM_000123.4(ERCC5):c.264+7G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1233535	NM_000123.4(ERCC5):c.264+121_264+122del	BIVM-ERCC5, ERCC5	Microsatellite (intron variant)	not provided	GBenign
Select item 1692185	NM_000123.4(ERCC5):c.274A>T (p.Arg92Trp)	BIVM-ERCC5, ERCC5 (R546W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3030237	NM_000123.4(ERCC5):c.286del (p.Asp96fs)	BIVM-ERCC5, ERCC5 (D550fs +1 more)	Deletion (frameshift variant)	ERCC5-related condition	GLikely pathogenic
Select item 882371	NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)	BIVM-ERCC5, ERCC5 (A98V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 740330	NM_000123.4(ERCC5):c.294G>A (p.Ala98=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 1319539	NM_000123.4(ERCC5):c.314C>T (p.Thr105Met)	BIVM-ERCC5, ERCC5 (T105M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2627959	NM_000123.4(ERCC5):c.323del (p.Lys108fs)	BIVM-ERCC5, ERCC5 (K108fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 2643918	NM_000123.4(ERCC5):c.327T>C (p.Leu109=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717874	NM_000123.4(ERCC5):c.330G>A (p.Leu110=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522981	NM_000123.4(ERCC5):c.348_352del (p.Arg116fs)	BIVM-ERCC5, ERCC5 (R570fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum-Cockayne syndrome complex	GPathogenic
Select item 134177	NM_000123.4(ERCC5):c.362C>T (p.Thr121Ile)	BIVM-ERCC5, ERCC5 (T121I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 1692194	NM_000123.4(ERCC5):c.369C>T (p.Phe123=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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