ClinVar for Gene (Select 11190) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357492	NM_007186.6(CEP250):c.5083C>T (p.Arg1695Ter)	CEP250 (R1063* +1 more)	Single nucleotide variant (nonsense)	CEP250-related disorder	GLikely pathogenic
Select item 3338692	NM_007186.6(CEP250):c.5579_5580dup (p.Leu1861fs)	CEP250 (L1229fs +1 more)	Microsatellite (frameshift variant)	Cone-rod dystrophy and hearing loss 2	GPathogenic
Select item 3266140	NM_007186.6(CEP250):c.6331C>G (p.Leu2111Val)	CEP250 (L1479V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266139	NM_007186.6(CEP250):c.1220A>G (p.Gln407Arg)	CEP250, CEP250-AS1 (Q407R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3266138	NM_007186.6(CEP250):c.5155G>C (p.Ala1719Pro)	CEP250 (A1719P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266137	NM_007186.6(CEP250):c.4090G>A (p.Val1364Ile)	CEP250 (V732I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266136	NM_007186.6(CEP250):c.5764A>G (p.Arg1922Gly)	CEP250 (R1290G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266135	NM_007186.6(CEP250):c.451G>A (p.Glu151Lys)	CEP250 (E151K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3266134	NM_007186.6(CEP250):c.2078A>C (p.Gln693Pro)	CEP250, CEP250-AS1 (Q61P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266133	NM_007186.6(CEP250):c.5990G>C (p.Ser1997Thr)	CEP250 (S1997T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266132	NM_007186.6(CEP250):c.5999C>T (p.Thr2000Ile)	CEP250 (T2000I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266131	NM_007186.6(CEP250):c.100A>G (p.Asn34Asp)	CEP250 (N34D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3266128	NM_007186.6(CEP250):c.2255G>C (p.Arg752Pro)	CEP250, CEP250-AS1 (R120P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266127	NM_007186.6(CEP250):c.5263C>A (p.Leu1755Met)	CEP250 (L1755M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266126	NM_007186.6(CEP250):c.4945C>G (p.Leu1649Val)	CEP250 (L1017V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266125	NM_007186.6(CEP250):c.993T>G (p.Ser331Arg)	CEP250, CEP250-AS1 (S331R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3253312	NM_007186.6(CEP250):c.2704C>T (p.Gln902Ter)	CEP250, CEP250-AS1 (Q270* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3142789	NM_007186.6(CEP250):c.73C>G (p.Leu25Val)	CEP250 (L25V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3142788	NM_007186.6(CEP250):c.6995C>T (p.Ser2332Leu)	CEP250 (S1700L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142787	NM_007186.6(CEP250):c.6885G>C (p.Gln2295His)	CEP250 (Q2295H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142786	NM_007186.6(CEP250):c.683A>T (p.Gln228Leu)	CEP250 (Q228L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3142785	NM_007186.6(CEP250):c.628G>T (p.Val210Leu)	CEP250 (V210L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3142784	NM_007186.6(CEP250):c.6091C>T (p.Leu2031Phe)	CEP250 (L1399F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142782	NM_007186.6(CEP250):c.5644G>T (p.Val1882Phe)	CEP250 (V1250F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142780	NM_007186.6(CEP250):c.4870G>C (p.Glu1624Gln)	CEP250 (E1624Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142779	NM_007186.6(CEP250):c.4454G>A (p.Cys1485Tyr)	CEP250 (C1485Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142778	NM_007186.6(CEP250):c.3742C>G (p.Leu1248Val)	CEP250 (L1248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142776	NM_007186.6(CEP250):c.1883C>A (p.Ser628Tyr)	CEP250, CEP250-AS1 (S628Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142775	NM_007186.6(CEP250):c.1619G>A (p.Ser540Asn)	CEP250, CEP250-AS1 (S540N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142774	NM_007186.6(CEP250):c.1355T>G (p.Val452Gly)	CEP250, CEP250-AS1 (V452G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142773	NM_007186.6(CEP250):c.1294G>A (p.Ala432Thr)	CEP250, CEP250-AS1 (A432T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3142772	NM_007186.6(CEP250):c.1285G>A (p.Glu429Lys)	CEP250, CEP250-AS1 (E429K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3058704	NM_007186.6(CEP250):c.3447A>C (p.Ala1149=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related disorder	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 disorder	GLikely benign
Select item 3050803	NM_007186.6(CEP250):c.3033+6C>T	CEP250	Single nucleotide variant (intron variant)	CEP250-related disorder	GLikely benign
Select item 3047319	NM_007186.6(CEP250):c.5697G>A (p.Gln1899=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related disorder	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 disorder	GLikely benign
Select item 3044772	NM_007186.6(CEP250):c.3033+4_3033+5insAT	CEP250	Insertion (intron variant)	CEP250-related disorder	GLikely benign
Select item 3042302	NM_007186.6(CEP250):c.3033+4_3033+5insA	CEP250	Insertion (intron variant)	CEP250-related disorder	GLikely benign
Select item 3041640	NM_007186.6(CEP250):c.6975C>T (p.Ile2325=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related disorder	GLikely benign
Select item 3041500	NM_007186.6(CEP250):c.3033+5C>T	CEP250	Single nucleotide variant (intron variant)	CEP250-related disorder	GLikely benign
Select item 3034842	NM_007186.6(CEP250):c.7251C>A (p.Ser2417=)	CEP250	Single nucleotide variant (synonymous variant)	CEP250-related disorder	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)	not provided	GPathogenic
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

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