Related gene-specific medical variations for Gene (Select 9731) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360460	NM_014704.4(CEP104):c.48del (p.Asp17fs)	CEP104 (D17fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3142462	NM_014704.4(CEP104):c.2015A>G (p.Asp672Gly)	CEP104, LOC126805586 (D672G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142461	NM_014704.4(CEP104):c.1894A>G (p.Ile632Val)	CEP104, LOC126805586 (I632V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3142460	NM_014704.4(CEP104):c.1665G>A (p.Met555Ile)	CEP104, LOC126805587 (M555I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031342	NM_014704.4(CEP104):c.1884G>A (p.Thr628=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	CEP104-related disorder	GLikely benign
Select item 3005385	NM_014704.4(CEP104):c.1809G>A (p.Ser603=)	CEP104, LOC126805587	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 3004548	NM_014704.4(CEP104):c.1745del (p.His582fs)	CEP104, LOC126805587 (H582fs)	Deletion (frameshift variant)	Joubert syndrome 25	GPathogenic
Select item 2901393	NM_014704.4(CEP104):c.1836+16G>A	CEP104, LOC126805587	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2712353	NM_014704.4(CEP104):c.2043+7del	CEP104, LOC126805586	Deletion (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2637466	NM_014704.4(CEP104):c.1954G>A (p.Asp652Asn)	CEP104, LOC126805586 (D652N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574403	NM_014704.4(CEP104):c.2054A>C (p.Lys685Thr)	CEP104, LOC126805586 (K685T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530858	NM_014704.4(CEP104):c.1886C>T (p.Ala629Val)	CEP104, LOC126805586 (A629V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514693	NM_014704.4(CEP104):c.2048G>A (p.Arg683Gln)	CEP104, LOC126805586 (R683Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2439899	NM_014704.4(CEP104):c.2683G>A (p.Ala895Thr)	CEP104 (A895T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429932	NM_014704.4(CEP104):c.830A>T (p.Glu277Val)	CEP104 (E277V)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2429931	NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)	CEP104 (L414*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 2174475	NM_014704.4(CEP104):c.1877G>A (p.Arg626His)	CEP104, LOC126805586 (R626H)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 2103080	NM_014704.4(CEP104):c.1660-4A>C	CEP104, LOC126805587	Single nucleotide variant (intron variant)	Joubert syndrome 25	GLikely benign
Select item 2084493	NM_014704.4(CEP104):c.1906A>G (p.Met636Val)	CEP104, LOC126805586 (M636V)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1700580	NM_014704.4(CEP104):c.1901dup (p.Leu634fs)	CEP104, LOC126805586 (L634fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal recessive 77	GPathogenic
Select item 1691031	NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter)	CEP104, LOC126805586 (E627*)	Single nucleotide variant (nonsense)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 1677239	NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)	CEP104, LOC126805586 (Y623fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1674532	NM_014704.4(CEP104):c.1950A>G (p.Pro650=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1661013	NM_014704.4(CEP104):c.1851C>T (p.Ala617=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1401681	NM_014704.4(CEP104):c.2005G>A (p.Ala669Thr)	CEP104, LOC126805586 (A669T)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 1322057	NM_014704.4(CEP104):c.2081_2084del (p.Gln694fs)	CEP104, LOC126805586 (Q694fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1312170	NM_014704.4(CEP104):c.1760A>G (p.Gln587Arg)	CEP104, LOC126805587 (Q587R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306012	NM_014704.4(CEP104):c.1883C>T (p.Thr628Met)	CEP104, LOC126805586 (T628M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1290463	NM_014704.4(CEP104):c.1837-24A>C	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270875	NM_014704.4(CEP104):c.1660-41A>G	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256841	NM_014704.4(CEP104):c.1837-22C>A	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247756	NM_014704.4(CEP104):c.1660-299T>C	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246912	NM_014704.4(CEP104):c.2043+101A>G	LOC126805586, CEP104	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240777	NM_014704.4(CEP104):c.2044-179T>C	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238795	NM_014704.4(CEP104):c.1837-149G>A	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233483	NM_014704.4(CEP104):c.1836+268_1836+269del	CEP104, LOC126805587	Deletion (intron variant)	not provided	GBenign
Select item 1227865	NM_014704.4(CEP104):c.1836+269del	LOC126805587, CEP104	Deletion (intron variant)	not provided	GBenign
Select item 1224927	NM_014704.4(CEP104):c.1836+291G>A	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220333	NM_014704.4(CEP104):c.2044-164A>G	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214991	NM_014704.4(CEP104):c.2043+120G>A	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209821	NM_014704.4(CEP104):c.1837-28G>C	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1208619	NM_014704.4(CEP104):c.1837-251A>G	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207210	NM_014704.4(CEP104):c.1837-74T>C	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189528	NM_014704.4(CEP104):c.1836+37A>G	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188625	NM_014704.4(CEP104):c.1836+68G>C	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187965	NM_014704.4(CEP104):c.1836+213T>C	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183511	NM_014704.4(CEP104):c.1836+30G>A	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181018	NM_014704.4(CEP104):c.1836+14G>A	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1177726	NM_014704.4(CEP104):c.1837-258G>A	CEP104, LOC126805586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170301	NM_014704.4(CEP104):c.2057C>T (p.Ala686Val)	CEP104, LOC126805586 (A686V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1167873	NM_014704.4(CEP104):c.1836+7A>G	CEP104, LOC126805587	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1125306	NM_014704.4(CEP104):c.1905C>T (p.Asp635=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 1103945	NM_014704.4(CEP104):c.1953C>T (p.Asp651=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 872690	NM_014704.4(CEP104):c.1778G>A (p.Arg593Gln)	CEP104, LOC126805587 (R593Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 872689	NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter)	CEP104, LOC126805586 (R631*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 757300	NM_014704.4(CEP104):c.1716G>A (p.Val572=)	CEP104, LOC126805587	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 719815	NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)	CEP104, LOC126805587 (I607T)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +2 more	GConflicting classifications of pathogenicity
Select item 712340	NM_014704.4(CEP104):c.2001A>G (p.Gly667=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	Joubert syndrome 25	GLikely benign
Select item 707355	NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys)	LOC126805586, CEP104 (R656C)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +1 more	GBenign/Likely benign
Select item 591066	NM_014704.4(CEP104):c.852C>A (p.Tyr284Ter)	CEP104 (Y284*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 542194	NM_014704.4(CEP104):c.1884G>T (p.Thr628=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 475460	NM_014704.4(CEP104):c.1914A>G (p.Arg638=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Links from Gene

Items: 62