10519[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 146712	GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	BLM, CIB1 +44 more	Copy number loss	See cases	GUncertain significance
Select item 2000481	NM_006384.4(CIB1):c.570C>A (p.Val190=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2293028	NM_006384.4(CIB1):c.566T>C (p.Ile189Thr)	CIB1 (I189T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1632512	NM_006384.4(CIB1):c.555-17G>A	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688352	NM_006384.4(CIB1):c.555-45G>A	CIB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688000	NM_006384.4(CIB1):c.554+127G>A	CIB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1989005	NM_006384.4(CIB1):c.554+17C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602920	NM_006384.4(CIB1):c.554+14C>A	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010822	NM_006384.4(CIB1):c.554+13T>C	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468542	NM_006384.4(CIB1):c.550G>C (p.Ala184Pro)	CIB1 (A184P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 599256	NM_006384.4(CIB1):c.548_549dup (p.Ala184fs)	CIB1 (A224fs +1 more)	Duplication (frameshift variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 3	Grisk factor
Select item 1358142	NM_006384.4(CIB1):c.547T>C (p.Phe183Leu)	CIB1 (F183L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1514065	NM_006384.4(CIB1):c.546C>A (p.Asp182Glu)	CIB1 (D222E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1498774	NM_006384.4(CIB1):c.538T>A (p.Ser180Thr)	CIB1 (S180T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2022855	NM_006384.4(CIB1):c.536G>T (p.Arg179Leu)	CIB1 (R219L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484499	NM_006384.4(CIB1):c.536G>A (p.Arg179His)	CIB1 (R179H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3013260	NM_006384.4(CIB1):c.525C>T (p.His175=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022578	NM_006384.4(CIB1):c.513dup (p.Glu172Ter)	CIB1 (E172* +1 more)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 1450615	NM_006384.4(CIB1):c.507C>A (p.Asn169Lys)	CIB1 (N209K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1501036	NM_006384.4(CIB1):c.506A>G (p.Asn169Ser)	CIB1 (N169S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1500202	NM_006384.4(CIB1):c.476A>T (p.Glu159Val)	CIB1 (E159V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981973	NM_006384.4(CIB1):c.466-3C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1167687	NM_006384.4(CIB1):c.466-5C>G	CIB1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1996787	NM_006384.4(CIB1):c.466-11C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935687	NM_006384.4(CIB1):c.466-12_466-11del	CIB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1660968	NM_006384.4(CIB1):c.466-11C>G	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980697	NM_006384.4(CIB1):c.466-13C>G	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641306	NM_006384.4(CIB1):c.465+19C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703621	NM_006384.4(CIB1):c.465+14C>G	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 599255	NM_006384.4(CIB1):c.465+1dup	CIB1	Duplication (splice donor variant)	Epidermodysplasia verruciformis, susceptibility to, 3	Grisk factor
Select item 3256950	NM_006384.4(CIB1):c.465+1del	CIB1	Deletion (splice donor variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3065461	NM_006384.4(CIB1):c.465+1G>A	CIB1	Single nucleotide variant (splice donor variant)	Epidermodysplasia verruciformis, susceptibility to, 3	GLikely pathogenic
Select item 1373118	NM_006384.4(CIB1):c.463A>G (p.Asn155Asp)	CIB1 (N155D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3256944	NM_006384.4(CIB1):c.461del (p.Asp154fs)	CIB1 (D154fs +1 more)	Deletion (frameshift variant +1 more)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 1370230	NM_006384.4(CIB1):c.460G>C (p.Asp154His)	CIB1 (D194H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1012151	NM_006384.4(CIB1):c.460G>T (p.Asp154Tyr)	CIB1 (D154Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932255	NM_006384.4(CIB1):c.459C>G (p.Ile153Met)	CIB1 (I193M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1537710	NM_006384.4(CIB1):c.459C>T (p.Ile153=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916321	NM_006384.4(CIB1):c.456C>T (p.Leu152=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117382	NM_006384.4(CIB1):c.452A>G (p.Gln151Arg)	CIB1 (Q151R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 710076	NM_006384.4(CIB1):c.444G>A (p.Glu148=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2961235	NM_006384.4(CIB1):c.438G>A (p.Ala146=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 998758	NM_006384.4(CIB1):c.437C>T (p.Ala146Val)	CIB1 (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 710077	NM_006384.4(CIB1):c.435T>C (p.Ser145=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1346600	NM_006384.4(CIB1):c.428G>A (p.Arg143Gln)	CIB1 (R143Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1463554	NM_006384.4(CIB1):c.427C>T (p.Arg143Trp)	CIB1 (R143W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1519476	NM_006384.4(CIB1):c.425C>G (p.Thr142Arg)	CIB1 (T142R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485712	NM_006384.4(CIB1):c.421G>A (p.Asp141Asn)	CIB1 (D141N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1470143	NM_006384.4(CIB1):c.418G>A (p.Glu140Lys)	CIB1 (E180K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1046245	NM_006384.4(CIB1):c.417C>T (p.Gly139=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1504298	NM_006384.4(CIB1):c.407C>T (p.Thr136Met)	CIB1 (T136M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2047558	NM_006384.4(CIB1):c.390G>C (p.Arg130=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1427465	NM_006384.4(CIB1):c.388C>T (p.Arg130Trp)	CIB1 (R130W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023239	NM_006384.4(CIB1):c.381C>T (p.Asp127=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716644	NM_006384.4(CIB1):c.372C>T (p.Asn124=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1470471	NM_006384.4(CIB1):c.369G>C (p.Leu123Phe)	CIB1 (L163F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1449746	NM_006384.4(CIB1):c.361G>A (p.Gly121Arg)	CIB1 (G121R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1625461	NM_006384.4(CIB1):c.357T>C (p.Asp119=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1716863	NM_006384.4(CIB1):c.356A>G (p.Asp119Gly)	CIB1 (D119G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1458030	NM_006384.4(CIB1):c.350_351del (p.Asp116_Phe117insTer)	CIB1	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 1169184	NM_006384.4(CIB1):c.347-6_347-3del	CIB1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 2841422	NM_006384.4(CIB1):c.347-6C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113476	NM_006384.4(CIB1):c.347-9G>C	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797485	NM_006384.4(CIB1):c.347-11C>A	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962768	NM_006384.4(CIB1):c.347-17C>G	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664284	NM_006384.4(CIB1):c.347-18C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3032502	NM_006384.4(CIB1):c.346+8C>A	CIB1	Single nucleotide variant (intron variant)	CIB1-related disorder	GLikely benign
Select item 1578483	NM_006384.4(CIB1):c.346+8C>T	CIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1423289	NM_006384.4(CIB1):c.338G>A (p.Arg113His)	CIB1 (R153H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2078622	NM_006384.4(CIB1):c.327T>C (p.His109=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1486988	NM_006384.4(CIB1):c.323C>T (p.Ser108Phe)	CIB1 (S108F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2092716	NM_006384.4(CIB1):c.316A>C (p.Ile106Leu)	CIB1 (I146L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2479293	NM_006384.4(CIB1):c.314A>G (p.Asp105Gly)	CIB1 (D145G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1626981	NM_006384.4(CIB1):c.309G>A (p.Thr103=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1447418	NM_006384.4(CIB1):c.308C>T (p.Thr103Met)	CIB1 (T143M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1450571	NM_006384.4(CIB1):c.299A>G (p.Asp100Gly)	CIB1 (D100G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1992627	NM_006384.4(CIB1):c.286A>C (p.Ser96Arg)	CIB1 (S136R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1472994	NM_006384.4(CIB1):c.284T>C (p.Leu95Pro)	CIB1 (L135P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1156471	NM_006384.4(CIB1):c.270C>T (p.Asp90=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 599254	NM_006384.4(CIB1):c.248_249del (p.Lys83fs)	CIB1 (K83fs +1 more)	Deletion (frameshift variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 3	Grisk factor
Select item 1524552	NM_006384.4(CIB1):c.244G>C (p.Ala82Pro)	CIB1 (A82P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166891	NM_006384.4(CIB1):c.244G>A (p.Ala82Thr)	CIB1 (A122T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2698752	NM_006384.4(CIB1):c.242dup (p.Ala82fs)	CIB1 (A82fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3144909	NM_006384.4(CIB1):c.241C>T (p.Pro81Ser)	CIB1 (P121S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2811744	NM_006384.4(CIB1):c.237A>G (p.Thr79=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1370902	NM_006384.4(CIB1):c.226_228del (p.Val76del)	CIB1 (V116del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1375453	NM_006384.4(CIB1):c.215G>A (p.Arg72Gln)	CIB1 (R72Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 599257	NM_006384.4(CIB1):c.214C>T (p.Arg72Ter)	CIB1 (R72* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1946450	NM_006384.4(CIB1):c.200A>G (p.Asn67Ser)	CIB1 (N67S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1502698	NM_006384.4(CIB1):c.196G>A (p.Ala66Thr)	CIB1 (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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