ClinVar for Gene (Select 84984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247054	NC_000003.11:g.(?_196434422)_(196435540_?)dup	CEP19	Duplication	not provided	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3142707	NM_032898.5(CEP19):c.361G>A (p.Asp121Asn)	CEP19 (D121N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2874073	NM_032898.5(CEP19):c.414T>C (p.Tyr138=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857307	NM_032898.5(CEP19):c.204G>A (p.Arg68=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829840	NM_032898.5(CEP19):c.357C>A (p.Ile119=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759891	NM_032898.5(CEP19):c.318C>T (p.Asn106=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2521099	NM_032898.5(CEP19):c.268A>G (p.Met90Val)	CEP19 (M55V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	FBXO45, LOC129938278 +113 more	Copy number loss	See cases	GPathogenic
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	PIGX, SENP5 +26 more	Duplication	not provided	GUncertain significance
Select item 2427083	NC_000003.11:g.(?_196434422)_(196434803_?)dup	CEP19	Duplication	not provided	GUncertain significance
Select item 2308062	NM_032898.5(CEP19):c.40C>T (p.Pro14Ser)	CEP19 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245108	NM_032898.5(CEP19):c.346A>G (p.Arg116Gly)	CEP19 (R116G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183687	NM_032898.5(CEP19):c.42T>A (p.Pro14=)	CEP19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132375	NM_032898.5(CEP19):c.-13_-1del	CEP19	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2116085	NM_032898.5(CEP19):c.461G>A (p.Gly154Asp)	CEP19 (G119D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099787	NM_032898.5(CEP19):c.11C>G (p.Thr4Ser)	CEP19 (T4S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097321	NM_032898.5(CEP19):c.20A>C (p.Lys7Thr)	CEP19 (K7T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096621	NM_032898.5(CEP19):c.2T>C (p.Met1Thr)	CEP19 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2086191	NM_032898.5(CEP19):c.291A>C (p.Thr97=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054743	NM_032898.5(CEP19):c.118T>C (p.Ser40Pro)	CEP19 (S40P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2009968	NM_032898.5(CEP19):c.490T>G (p.Ter164Gly)	CEP19	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2001729	NM_032898.5(CEP19):c.461G>C (p.Gly154Ala)	CEP19 (G119A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997571	NM_032898.5(CEP19):c.131-8T>C	CEP19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972833	NM_032898.5(CEP19):c.137C>G (p.Thr46Ser)	CEP19 (T46S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971851	NM_032898.5(CEP19):c.139A>G (p.Arg47Gly)	CEP19 (R12G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963925	NM_032898.5(CEP19):c.441C>T (p.Asp147=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962777	NM_032898.5(CEP19):c.270G>A (p.Met90Ile)	CEP19 (M90I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949781	NM_032898.5(CEP19):c.130+15A>G	CEP19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940060	NM_032898.5(CEP19):c.88C>T (p.Arg30Cys)	CEP19 (R30C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933206	NM_032898.5(CEP19):c.284G>A (p.Arg95Gln)	CEP19 (R60Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907054	NM_032898.5(CEP19):c.370T>C (p.Phe124Leu)	CEP19 (F89L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809243	GRCh37/hg19 3q29(chr3:195790857-196543483)x1	CEP19, DYNLT2B +13 more	Copy number loss	not provided	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1713363	NM_032898.5(CEP19):c.193G>A (p.Val65Ile)	CEP19 (V30I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1679598	Single allele	LOC129938272, WDR53 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1628362	NM_032898.5(CEP19):c.42T>C (p.Pro14=)	CEP19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1552563	NM_032898.5(CEP19):c.222C>T (p.Phe74=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519961	NM_032898.5(CEP19):c.246G>A (p.Ser82=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501986	NM_032898.5(CEP19):c.442_456del (p.Asp148_Ser152del)	CEP19	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1497759	NM_032898.5(CEP19):c.79G>A (p.Gly27Arg)	CEP19 (G27R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1486504	NM_032898.5(CEP19):c.113A>C (p.Asn38Thr)	CEP19 (N38T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484925	NM_032898.5(CEP19):c.296T>C (p.Ile99Thr)	CEP19 (I64T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482049	NM_032898.5(CEP19):c.359T>A (p.Met120Lys)	CEP19 (M120K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476210	NM_032898.5(CEP19):c.152_153del (p.Gln51fs)	CEP19 (Q16fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1475757	NM_032898.5(CEP19):c.5T>C (p.Met2Thr)	CEP19 (M2T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1473039	NM_032898.5(CEP19):c.170dup (p.His58fs)	CEP19 (H23fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1472840	NM_032898.5(CEP19):c.151C>G (p.Gln51Glu)	CEP19 (Q51E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463978	NM_032898.5(CEP19):c.425T>G (p.Val142Gly)	CEP19 (V107G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462389	NM_032898.5(CEP19):c.159G>T (p.Lys53Asn)	CEP19 (K53N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450696	NM_032898.5(CEP19):c.248G>A (p.Gly83Glu)	CEP19 (G48E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449977	NM_032898.5(CEP19):c.275A>C (p.Gln92Pro)	CEP19 (Q92P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446966	NM_032898.5(CEP19):c.13G>T (p.Ala5Ser)	CEP19 (A5S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442639	NM_032898.5(CEP19):c.161A>G (p.Asn54Ser)	CEP19 (N54S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439793	NM_032898.5(CEP19):c.290C>G (p.Thr97Arg)	CEP19 (T62R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439792	NM_032898.5(CEP19):c.362A>G (p.Asp121Gly)	CEP19 (D121G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432350	NM_032898.5(CEP19):c.400C>T (p.Pro134Ser)	CEP19 (P99S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430002	NM_032898.5(CEP19):c.53T>C (p.Ile18Thr)	CEP19 (I18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1424695	NM_032898.5(CEP19):c.419T>C (p.Ile140Thr)	CEP19 (I140T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420934	NM_032898.5(CEP19):c.245C>T (p.Ser82Leu)	CEP19 (S47L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420190	NM_032898.5(CEP19):c.385AAG[2] (p.Lys131del)	CEP19 (K131del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1384958	NM_032898.5(CEP19):c.283C>T (p.Arg95Trp)	CEP19 (R60W +1 more)	Single nucleotide variant (missense variant)	Obesity due to CEP19 deficiency +1 more	GUncertain significance
Select item 1376423	NM_032898.5(CEP19):c.374A>G (p.Glu125Gly)	CEP19 (E125G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375642	NM_032898.5(CEP19):c.427G>A (p.Glu143Lys)	CEP19 (E108K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370913	NM_032898.5(CEP19):c.91C>A (p.Gln31Lys)	CEP19 (Q31K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367441	NM_032898.5(CEP19):c.211G>A (p.Glu71Lys)	CEP19 (E36K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367096	NM_032898.5(CEP19):c.413A>G (p.Tyr138Cys)	CEP19 (Y103C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364660	NM_032898.5(CEP19):c.167C>T (p.Pro56Leu)	CEP19 (P21L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352463	NM_032898.5(CEP19):c.10A>G (p.Thr4Ala)	CEP19 (T4A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348086	NM_032898.5(CEP19):c.465G>A (p.Trp155Ter)	CEP19 (W155* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1340375	GRCh37/hg19 3q29(chr3:196269417-196481401)x3	CEP19, FBXO45 +4 more	Copy number gain	not provided	GLikely benign
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 1166784	NM_032898.5(CEP19):c.-6A>G	CEP19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1153859	NM_032898.5(CEP19):c.174C>T (p.His58=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142799	NM_032898.5(CEP19):c.81G>A (p.Gly27=)	CEP19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1139140	NM_032898.5(CEP19):c.276A>G (p.Gln92=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135927	NM_032898.5(CEP19):c.131-13T>A	CEP19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1134196	NM_032898.5(CEP19):c.96C>T (p.Arg32=)	CEP19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1118879	NM_032898.5(CEP19):c.131-6T>C	CEP19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1105445	NM_032898.5(CEP19):c.131-10T>C	CEP19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1090891	NM_032898.5(CEP19):c.315G>C (p.Leu105=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084357	NM_032898.5(CEP19):c.393G>A (p.Lys131=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080729	NM_032898.5(CEP19):c.303T>C (p.Pro101=)	CEP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1062841	NM_032898.5(CEP19):c.170G>A (p.Arg57Gln)	CEP19 (R22Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058682	NM_032898.5(CEP19):c.98T>C (p.Ile33Thr)	CEP19 (I33T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1058291	NM_032898.5(CEP19):c.332A>G (p.Lys111Arg)	CEP19 (K111R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052973	NM_032898.5(CEP19):c.148G>A (p.Glu50Lys)	CEP19 (E15K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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