ClinVar for Gene (Select 9662) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368673	NM_025009.5(CEP135):c.1408C>T (p.Arg470Ter)	CEP135 (R470*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3364924	NM_025009.5(CEP135):c.1700T>G (p.Met567Arg)	CEP135 (M567R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336667	NM_025009.5(CEP135):c.473-1G>C	CEP135	Single nucleotide variant (splice acceptor variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 3266024	NM_025009.5(CEP135):c.1463C>T (p.Thr488Ile)	CEP135 (T488I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266023	NM_025009.5(CEP135):c.1384G>A (p.Glu462Lys)	CEP135 (E462K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266021	NM_025009.5(CEP135):c.2012T>C (p.Ile671Thr)	CEP135 (I671T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266020	NM_025009.5(CEP135):c.50A>C (p.Asp17Ala)	CEP135 (D17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266019	NM_025009.5(CEP135):c.969T>A (p.Asp323Glu)	CEP135 (D323E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266018	NM_025009.5(CEP135):c.1721C>A (p.Ala574Glu)	CEP135 (A574E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266017	NM_025009.5(CEP135):c.830T>C (p.Val277Ala)	CEP135 (V277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266016	NM_025009.5(CEP135):c.385A>G (p.Lys129Glu)	CEP135 (K129E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266015	NM_025009.5(CEP135):c.2387G>A (p.Arg796Gln)	CEP135 (R796Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266014	NM_025009.5(CEP135):c.2220G>T (p.Gln740His)	CEP135 (Q740H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266012	NM_025009.5(CEP135):c.1331A>T (p.Asp444Val)	CEP135 (D444V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266011	NM_025009.5(CEP135):c.716G>A (p.Arg239Gln)	CEP135 (R239Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246757	NC_000004.11:g.(?_56876911)_(56877979_?)del	CEP135	Deletion	not provided	GLikely pathogenic
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3239470	NM_025009.5(CEP135):c.843G>A (p.Gln281=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142585	NM_025009.5(CEP135):c.722T>G (p.Ile241Arg)	CEP135 (I241R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142584	NM_025009.5(CEP135):c.692G>A (p.Ser231Asn)	CEP135 (S231N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3142583	NM_025009.5(CEP135):c.607G>T (p.Asp203Tyr)	CEP135 (D203Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142582	NM_025009.5(CEP135):c.2864G>A (p.Arg955Gln)	CEP135 (R955Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142581	NM_025009.5(CEP135):c.2038G>A (p.Val680Ile)	CEP135 (V680I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142580	NM_025009.5(CEP135):c.1912A>G (p.Ile638Val)	CEP135 (I638V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142579	NM_025009.5(CEP135):c.1607T>C (p.Leu536Pro)	CEP135 (L536P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142578	NM_025009.5(CEP135):c.1370A>G (p.Tyr457Cys)	CEP135 (Y457C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142576	NM_025009.5(CEP135):c.127A>T (p.Thr43Ser)	CEP135 (T43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142575	NM_025009.5(CEP135):c.1133A>T (p.Glu378Val)	CEP135 (E378V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052747	NM_025009.5(CEP135):c.537C>G (p.Pro179=)	CEP135	Single nucleotide variant (synonymous variant)	CEP135-related disorder	GLikely benign
Select item 3052427	NM_025009.5(CEP135):c.473-7T>C	CEP135	Single nucleotide variant (intron variant)	CEP135-related disorder	GLikely benign
Select item 3039940	NM_025009.5(CEP135):c.1780-7T>C	CEP135	Single nucleotide variant (intron variant)	CEP135-related disorder	GLikely benign
Select item 3030306	NM_025009.5(CEP135):c.341C>T (p.Thr114Ile)	CEP135 (T114I)	Single nucleotide variant (missense variant)	CEP135-related disorder	GUncertain significance
Select item 3025713	NM_025009.5(CEP135):c.620A>G (p.Gln207Arg)	CEP135 (Q207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023902	NM_025009.5(CEP135):c.700-17C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018604	NM_025009.5(CEP135):c.303_304+4del	CEP135	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 3012015	NM_025009.5(CEP135):c.1858-13A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008768	NM_025009.5(CEP135):c.3087A>G (p.Thr1029=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007197	NM_025009.5(CEP135):c.978A>G (p.Ala326=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001811	NM_025009.5(CEP135):c.1857+14C>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994284	NM_025009.5(CEP135):c.3168A>G (p.Thr1056=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991312	NM_025009.5(CEP135):c.2126-4G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991288	NM_025009.5(CEP135):c.1563T>C (p.Asp521=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988499	NM_025009.5(CEP135):c.3348A>T (p.Arg1116=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985179	NM_025009.5(CEP135):c.2679G>C (p.Trp893Cys)	CEP135 (W893C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983387	NM_025009.5(CEP135):c.1827_1830del (p.Ile610fs)	CEP135 (I610fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2981021	NM_025009.5(CEP135):c.145C>A (p.Gln49Lys)	CEP135 (Q49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979174	NM_025009.5(CEP135):c.1474-2A>G	CEP135	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2978645	NM_025009.5(CEP135):c.473-16C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976869	NM_025009.5(CEP135):c.1474-17T>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975907	NM_025009.5(CEP135):c.2160G>A (p.Glu720=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974212	NM_025009.5(CEP135):c.3321-15G>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974089	NM_025009.5(CEP135):c.2010-15C>T	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970503	NM_025009.5(CEP135):c.2865A>G (p.Arg955=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970329	NM_025009.5(CEP135):c.2445C>T (p.Ile815=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966892	NM_025009.5(CEP135):c.2281-4A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965231	NM_025009.5(CEP135):c.1780-17T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962644	NM_025009.5(CEP135):c.828+12del	CEP135	Deletion (intron variant)	not provided	GBenign
Select item 2961359	NM_025009.5(CEP135):c.2418C>T (p.Leu806=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959347	NM_025009.5(CEP135):c.1360C>T (p.Arg454Ter)	CEP135 (R454*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2909695	NM_025009.5(CEP135):c.1257A>G (p.Gln419=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908807	NM_025009.5(CEP135):c.1947T>C (p.Ala649=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904288	NM_025009.5(CEP135):c.1374G>A (p.Lys458=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902074	NM_025009.5(CEP135):c.1250-9A>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901201	NM_025009.5(CEP135):c.2445C>A (p.Ile815=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896287	NM_025009.5(CEP135):c.1779+10T>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894595	NM_025009.5(CEP135):c.727C>T (p.Arg243Ter)	CEP135 (R243*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2891404	NM_025009.5(CEP135):c.1434C>T (p.Ser478=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889891	NM_025009.5(CEP135):c.3334C>G (p.Gln1112Glu)	CEP135 (Q1112E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887925	NM_025009.5(CEP135):c.2991G>T (p.Ser997=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879973	NM_025009.5(CEP135):c.897A>G (p.Glu299=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855250	NM_025009.5(CEP135):c.3215+1G>A	CEP135	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2852152	NM_025009.5(CEP135):c.829-1G>A	CEP135	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2824055	NM_025009.5(CEP135):c.1858-9A>C	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819957	NM_025009.5(CEP135):c.1138del (p.Glu380fs)	CEP135 (E380fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2808657	NM_025009.5(CEP135):c.3216-9G>A	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803021	NM_025009.5(CEP135):c.1250-11T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799641	NM_025009.5(CEP135):c.1629T>A (p.Ala543=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796954	NM_025009.5(CEP135):c.441A>G (p.Glu147=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795761	NM_025009.5(CEP135):c.1408C>A (p.Arg470=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794589	NM_025009.5(CEP135):c.1953A>G (p.Lys651=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790540	NM_025009.5(CEP135):c.1449T>C (p.Ser483=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785064	NM_025009.5(CEP135):c.2803-17T>G	CEP135	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782546	NM_025009.5(CEP135):c.2990C>A (p.Ser997Ter)	CEP135 (S997*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2727243	NM_025009.5(CEP135):c.3319C>T (p.Arg1107Ter)	CEP135 (R1107*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2711415	NM_025009.5(CEP135):c.1080T>C (p.Asp360=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708044	NM_025009.5(CEP135):c.255A>G (p.Leu85=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704276	NM_025009.5(CEP135):c.2886T>C (p.His962=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2654765	NM_025009.5(CEP135):c.1680C>T (p.Pro560=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654764	NM_025009.5(CEP135):c.1431T>C (p.Tyr477=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654763	NM_025009.5(CEP135):c.1253G>A (p.Arg418Gln)	CEP135 (R418Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2632104	NM_025009.5(CEP135):c.2056C>T (p.Arg686Ter)	CEP135 (R686*)	Single nucleotide variant (nonsense)	CEP135-related disorder	GLikely pathogenic
Select item 2629444	NM_025009.5(CEP135):c.3144_3147del (p.His1048fs)	CEP135 (H1048fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2563854	NM_025009.5(CEP135):c.2938C>A (p.Leu980Ile)	CEP135 (L980I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557237	NM_025009.5(CEP135):c.2848G>A (p.Ala950Thr)	CEP135 (A950T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480662	NM_025009.5(CEP135):c.376C>A (p.His126Asn)	CEP135 (H126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475783	NM_025009.5(CEP135):c.1966G>T (p.Ala656Ser)	CEP135 (A656S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474526	NM_025009.5(CEP135):c.1979C>A (p.Ser660Tyr)	CEP135 (S660Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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