ClinVar for Gene (Select 11190) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1413

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058704	NM_007186.6(CEP250):c.3447A>C (p.Ala1149=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related condition	GLikely benign
Select item 3055027	NM_007186.6(CEP250):c.1470A>C (p.Arg490=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	CEP250-related condition	GLikely benign
Select item 3050803	NM_007186.6(CEP250):c.3033+6C>T	CEP250	Single nucleotide variant (intron variant)	CEP250-related condition	GLikely benign
Select item 3047319	NM_007186.6(CEP250):c.5697G>A (p.Gln1899=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related condition	GLikely benign
Select item 3046715	NM_007186.6(CEP250):c.1371G>A (p.Glu457=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	CEP250-related condition	GLikely benign
Select item 3044772	NM_007186.6(CEP250):c.3033+4_3033+5insAT	CEP250	Insertion (intron variant)	CEP250-related condition	GLikely benign
Select item 3042302	NM_007186.6(CEP250):c.3033+4_3033+5insA	CEP250	Insertion (intron variant)	CEP250-related condition	GLikely benign
Select item 3041640	NM_007186.6(CEP250):c.6975C>T (p.Ile2325=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related condition	GLikely benign
Select item 3041500	NM_007186.6(CEP250):c.3033+5C>T	CEP250	Single nucleotide variant (intron variant)	CEP250-related condition	GLikely benign
Select item 3034842	NM_007186.6(CEP250):c.7251C>A (p.Ser2417=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related condition	GLikely benign
Select item 3018448	NM_007186.6(CEP250):c.3718G>A (p.Ala1240Thr)	CEP250 (A608T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012460	NM_007186.6(CEP250):c.2805G>A (p.Leu935=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011677	NM_007186.6(CEP250):c.3108G>A (p.Lys1036=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008376	NM_007186.6(CEP250):c.4056C>T (p.Asn1352=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006497	NM_007186.6(CEP250):c.3003G>A (p.Leu1001=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004196	NM_007186.6(CEP250):c.6642A>G (p.Glu2214=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999204	NM_007186.6(CEP250):c.454C>T (p.Leu152=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2998450	NM_007186.6(CEP250):c.187-16G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995956	NM_007186.6(CEP250):c.7206T>C (p.Pro2402=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995820	NM_007186.6(CEP250):c.187-5T>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993450	NM_007186.6(CEP250):c.3033+12C>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992897	NM_007186.6(CEP250):c.467A>G (p.Glu156Gly)	CEP250 (E156G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2992207	NM_007186.6(CEP250):c.600-8G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991787	NM_007186.6(CEP250):c.6637-11C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991695	NM_007186.6(CEP250):c.3784C>T (p.Leu1262=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987709	NM_007186.6(CEP250):c.2200del (p.Ala733_Leu734insTer)	CEP250, CEP250-AS1	Deletion (nonsense)	not provided	GPathogenic
Select item 2986487	NM_007186.6(CEP250):c.3090G>A (p.Glu1030=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985519	NM_007186.6(CEP250):c.2647del (p.Glu883fs)	CEP250, CEP250-AS1 (E251fs +1 more)	Deletion (frameshift variant)	CEP250-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2985509	NM_007186.6(CEP250):c.2241C>T (p.Ala747=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985090	NM_007186.6(CEP250):c.3898+19G>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984889	NM_007186.6(CEP250):c.73C>T (p.Leu25=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2982684	NM_007186.6(CEP250):c.3987G>C (p.Leu1329=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979428	NM_007186.6(CEP250):c.4020+14G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979383	NM_007186.6(CEP250):c.5091G>A (p.Arg1697=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978251	NM_007186.6(CEP250):c.5206_5208del (p.Lys1736del)	CEP250 (K1104del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2974599	NM_007186.6(CEP250):c.4365G>A (p.Lys1455=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973184	NM_007186.6(CEP250):c.3778-19C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967370	NM_007186.6(CEP250):c.2095-16A>G	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2958595	NM_007186.6(CEP250):c.4080G>A (p.Leu1360=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958219	NM_007186.6(CEP250):c.4021-11T>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956874	NM_007186.6(CEP250):c.6193C>T (p.Leu2065=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920373	NM_007186.6(CEP250):c.327-9C>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896468	NM_007186.6(CEP250):c.1842G>T (p.Gly614=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2880757	NM_007186.6(CEP250):c.273G>A (p.Val91=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2878817	NM_007186.6(CEP250):c.6906+18C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878201	NM_007186.6(CEP250):c.5952C>T (p.Leu1984=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873843	NM_007186.6(CEP250):c.1571+18C>T	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2872710	NM_007186.6(CEP250):c.2890-17T>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870712	NM_007186.6(CEP250):c.1051-11T>C	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2863608	NM_007186.6(CEP250):c.2433G>A (p.Leu811=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859208	NM_007186.6(CEP250):c.6592C>T (p.Gln2198Ter)	CEP250 (Q1566* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2858802	NM_007186.6(CEP250):c.4020+9G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855659	NM_007186.6(CEP250):c.851+15G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854722	NM_007186.6(CEP250):c.2609A>G (p.Gln870Arg)	CEP250, CEP250-AS1 (Q870R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843640	NM_007186.6(CEP250):c.3168-14C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843040	NM_007186.6(CEP250):c.2644A>C (p.Arg882=)	CEP250, CEP250-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835558	NM_007186.6(CEP250):c.5886G>A (p.Arg1962=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824814	NM_007186.6(CEP250):c.326+10C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824355	NM_007186.6(CEP250):c.2754+18T>C	CEP250, CEP250-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823881	NM_007186.6(CEP250):c.15C>T (p.Ser5=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2821781	NM_007186.6(CEP250):c.5596del (p.Glu1866fs)	CEP250 (E1866fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2821780	NM_007186.6(CEP250):c.4325G>C (p.Gly1442Ala)	CEP250 (G1442A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820475	NM_007186.6(CEP250):c.6307_6308del (p.Leu2103fs)	CEP250 (L1471fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2817958	NM_007186.6(CEP250):c.5979T>C (p.Ser1993=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817398	NM_007186.6(CEP250):c.6525C>T (p.Asp2175=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815354	NM_007186.6(CEP250):c.3774C>T (p.Thr1258=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815084	NM_007186.6(CEP250):c.6510G>A (p.Arg2170=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813795	NM_007186.6(CEP250):c.5835G>A (p.Leu1945=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812342	NM_007186.6(CEP250):c.2288+2T>C	CEP250, CEP250-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2810707	NM_007186.6(CEP250):c.5481G>A (p.Gln1827=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809507	NM_007186.6(CEP250):c.6907-9C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808851	NM_007186.6(CEP250):c.1818G>A (p.Glu606=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2807804	NM_007186.6(CEP250):c.536G>T (p.Ser179Ile)	CEP250 (S179I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2800446	NM_007186.6(CEP250):c.3528C>T (p.Ala1176=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799759	NM_007186.6(CEP250):c.3390G>C (p.Ala1130=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797746	NM_007186.6(CEP250):c.4514_4515del (p.Val1505fs)	CEP250 (V873fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2795994	NM_007186.6(CEP250):c.402T>C (p.Leu134=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2792555	NM_007186.6(CEP250):c.3898+2T>C	CEP250	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2789664	NM_007186.6(CEP250):c.30C>T (p.Asn10=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2788478	NM_007186.6(CEP250):c.7038C>T (p.Ala2346=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787111	NM_007186.6(CEP250):c.5142G>A (p.Lys1714=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785648	NM_007186.6(CEP250):c.1470A>T (p.Arg490=)	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2782308	NM_007186.6(CEP250):c.4021-6T>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780729	NM_007186.6(CEP250):c.6709G>A (p.Glu2237Lys)	CEP250 (E1605K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778842	NM_007186.6(CEP250):c.3656-4dup	CEP250	Duplication (intron variant)	not provided	GBenign
Select item 2778714	NM_007186.6(CEP250):c.6750+19G>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778148	NM_007186.6(CEP250):c.599+2T>C	CEP250	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2777285	NM_007186.6(CEP250):c.6584T>C (p.Met2195Thr)	CEP250 (M1563T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776970	NM_007186.6(CEP250):c.6406G>T (p.Glu2136Ter)	CEP250 (E1504* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2765647	NM_007186.6(CEP250):c.6261G>A (p.Glu2087=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765565	NM_007186.6(CEP250):c.1112T>A (p.Leu371Ter)	CEP250, CEP250-AS1 (L371*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2759030	NM_007186.6(CEP250):c.4311G>A (p.Val1437=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758228	NM_007186.6(CEP250):c.3316C>T (p.Leu1106=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755377	NM_007186.6(CEP250):c.5265G>C (p.Leu1755=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755191	NM_007186.6(CEP250):c.1388+16G>C	CEP250, CEP250-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2753594	NM_007186.6(CEP250):c.4447del (p.Glu1483fs)	CEP250 (E851fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2747420	NM_007186.6(CEP250):c.7009-16T>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740510	NM_007186.6(CEP250):c.4602A>G (p.Lys1534=)	CEP250	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733217	NM_007186.6(CEP250):c.439del (p.Arg147fs)	CEP250 (R147fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2712490	NM_007186.6(CEP250):c.1567C>T (p.Arg523Cys)	CEP250, CEP250-AS1 (R523C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance

<< First< Prev

Page of 15