ClinVar for Gene (Select 4179) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068272	NM_172351.3(CD46):c.559G>C (p.Val187Leu)	CD46 (V187L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 3066170	NM_172351.3(CD46):c.737T>G (p.Phe246Cys)	CD46 (F246C)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 3063973	NM_172351.3(CD46):c.725T>G (p.Phe242Cys)	CD46 (F242C)	Single nucleotide variant (missense variant)	Familial Atypical Hemolytic-Uremic Syndrome	GLikely pathogenic
Select item 3061864	NM_172351.3(CD46):c.217C>T (p.Pro73Ser)	CD46 (P73S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 3044739	NM_172351.3(CD46):c.15C>A (p.Gly5=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	CD46-related condition	GLikely benign
Select item 3010146	NM_172351.3(CD46):c.70A>C (p.Met24Leu)	CD46, LOC129932405 (M24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001766	NM_172351.3(CD46):c.390-19C>T	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999899	NM_172351.3(CD46):c.1082G>A (p.Gly361Asp)	CD46 (G332D +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997950	NM_172351.3(CD46):c.856+18T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996197	NM_172351.3(CD46):c.944-18T>A	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995268	NM_172351.3(CD46):c.278C>T (p.Ala93Val)	CD46 (A93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991539	NM_172351.3(CD46):c.162T>C (p.Tyr54=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991055	NM_172351.3(CD46):c.537A>G (p.Glu179=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985953	NM_172351.3(CD46):c.287-17A>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983050	NM_172351.3(CD46):c.1053C>T (p.Tyr351=)	CD46	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2980589	NM_172351.3(CD46):c.784C>A (p.Leu262Ile)	CD46 (L262I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978288	NM_172351.3(CD46):c.509A>G (p.Asn170Ser)	CD46 (N170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975829	NM_172351.3(CD46):c.390-14_390-11del	CD46	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2974899	NM_172351.3(CD46):c.589C>A (p.Pro197Thr)	CD46 (P197T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974890	NM_172351.3(CD46):c.994A>G (p.Ile332Val)	CD46 (I303V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974619	NM_172351.3(CD46):c.944-11T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973972	NM_172351.3(CD46):c.1019-3T>C	CD46	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972493	NM_172351.3(CD46):c.902-12T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961750	NM_172351.3(CD46):c.982+17T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956754	NM_172351.3(CD46):c.715A>G (p.Ile239Val)	CD46 (I239V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956517	NM_172351.3(CD46):c.389+13T>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902668	NM_172351.3(CD46):c.707G>C (p.Gly236Ala)	CD46 (G236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889054	NM_172351.3(CD46):c.802A>G (p.Ile268Val)	CD46 (I268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885458	NM_172351.3(CD46):c.224C>T (p.Ala75Val)	CD46 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881514	NM_172351.3(CD46):c.768C>T (p.Cys256=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878384	NM_172351.3(CD46):c.367A>T (p.Met123Leu)	CD46 (M123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876121	NM_172351.3(CD46):c.466A>G (p.Ile156Val)	CD46 (I156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872504	NM_172351.3(CD46):c.982+14T>G	CD46	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872495	NM_172351.3(CD46):c.370C>T (p.His124Tyr)	CD46 (H124Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847196	NM_172351.3(CD46):c.210_211delinsCG (p.Ile71Val)	CD46 (I71V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2842332	NM_172351.3(CD46):c.218C>T (p.Pro73Leu)	CD46 (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837973	NM_172351.3(CD46):c.97+5G>T	CD46, LOC129932405	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2826322	NM_172351.3(CD46):c.950C>G (p.Pro317Arg)	CD46 (P303R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815618	NM_172351.3(CD46):c.552T>C (p.Leu184=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810555	NM_172351.3(CD46):c.418T>C (p.Tyr140His)	CD46 (Y140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810072	NM_172351.3(CD46):c.1016T>A (p.Ile339Lys)	CD46 (I310K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799169	NM_172351.3(CD46):c.251A>G (p.His84Arg)	CD46 (H84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798920	NM_172351.3(CD46):c.89_91del (p.Ser30del)	CD46, LOC129932405 (S30del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2786722	NM_172351.3(CD46):c.166A>G (p.Ile56Val)	CD46 (I56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786470	NM_172351.3(CD46):c.983-20G>T	CD46	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2785845	NM_172351.3(CD46):c.96C>T (p.Ser32=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2780228	NM_172351.3(CD46):c.857-111C>T	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777328	NM_172351.3(CD46):c.902-16A>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771465	NM_172351.3(CD46):c.230A>G (p.His77Arg)	CD46 (H77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771457	NM_172351.3(CD46):c.674-15T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761064	NM_172351.3(CD46):c.857-190C>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758260	NM_172351.3(CD46):c.475+19_475+21del	CD46	Deletion (intron variant)	not provided	GLikely benign
Select item 2754293	NM_172351.3(CD46):c.351C>T (p.Tyr117=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754080	NM_172351.3(CD46):c.97+7C>A	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753232	NM_172351.3(CD46):c.411A>G (p.Glu137=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749830	NM_172351.3(CD46):c.943+7T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743934	NM_172351.3(CD46):c.692C>A (p.Pro231Gln)	CD46 (P231Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720303	NM_172351.3(CD46):c.857-119G>A	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708954	NM_172351.3(CD46):c.746A>T (p.Lys249Ile)	CD46 (K249I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708593	NM_172351.3(CD46):c.948T>A (p.Tyr316Ter)	CD46 (Y301* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2707695	NM_172351.3(CD46):c.389+1G>T	CD46	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2703750	NM_172351.3(CD46):c.901+1G>A	CD46	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2702679	NM_172351.3(CD46):c.653G>C (p.Arg218Pro)	CD46 (R218P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702140	NM_172351.3(CD46):c.944-4C>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682718	NM_172351.3(CD46):c.683G>A (p.Cys228Tyr)	CD46 (C228Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639878	NM_172351.3(CD46):c.757A>G (p.Met253Val)	CD46 (M253V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635705	NM_172351.3(CD46):c.179T>C (p.Val60Ala)	CD46 (V60A)	Single nucleotide variant (missense variant)	CD46-related condition +1 more	GUncertain significance
Select item 2600764	NM_172351.3(CD46):c.10C>T (p.Pro4Ser)	CD46, LOC129932405 (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584519	NM_172351.3(CD46):c.857-1G>A	CD46	Single nucleotide variant (splice acceptor variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 2577446	NM_172351.3(CD46):c.907del (p.Arg303fs)	CD46 (R288fs +2 more)	Deletion (frameshift variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 2550663	NM_172351.3(CD46):c.58C>T (p.Leu20Phe)	CD46, LOC129932405 (L20F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542840	NM_172351.3(CD46):c.68C>G (p.Ala23Gly)	CD46, LOC129932405 (A23G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514776	NM_172351.3(CD46):c.775G>C (p.Gly259Arg)	CD46 (G259R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2495944	NM_172351.3(CD46):c.833C>T (p.Pro278Leu)	CD46 (P278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485831	NM_172351.3(CD46):c.653G>T (p.Arg218Leu)	CD46 (R218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463275	NM_172351.3(CD46):c.235A>G (p.Ile79Val)	CD46 (I79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2421423	NM_172351.3(CD46):c.1108A>G (p.Arg370Gly)	CD46 (R341G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2244751	NM_172351.3(CD46):c.251A>C (p.His84Pro)	CD46 (H84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202926	NM_172351.3(CD46):c.553G>A (p.Asp185Asn)	CD46 (D185N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202925	NM_172351.3(CD46):c.244C>T (p.Arg82Trp)	CD46 (R82W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2186282	NM_172351.3(CD46):c.799A>G (p.Thr267Ala)	CD46 (T267A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2173424	NM_172351.3(CD46):c.476-5T>G	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173423	NM_172351.3(CD46):c.476-4del	CD46	Deletion (intron variant)	not provided	GBenign
Select item 2173129	NM_172351.3(CD46):c.348T>G (p.Thr116=)	CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167008	NM_172351.3(CD46):c.109G>A (p.Glu37Lys)	CD46 (E37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130701	NM_172351.3(CD46):c.128C>T (p.Ala43Val)	CD46 (A43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129654	NM_172351.3(CD46):c.97G>T (p.Asp33Tyr)	CD46, LOC129932405 (D33Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115545	NM_172351.3(CD46):c.1097A>G (p.Asp366Gly)	CD46 (D337G +4 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2114525	NM_172351.3(CD46):c.615G>C (p.Glu205Asp)	CD46 (E205D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113085	NM_172351.3(CD46):c.916T>A (p.Tyr306Asn)	CD46 (Y291N +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2102132	NM_172351.3(CD46):c.1019-13T>C	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101912	NM_172351.3(CD46):c.944-20T>G	CD46	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2094251	NM_172351.3(CD46):c.132G>A (p.Met44Ile)	CD46 (M44I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091812	NM_172351.3(CD46):c.59T>C (p.Leu20Pro)	CD46, LOC129932405 (L20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090466	NM_172351.3(CD46):c.11C>T (p.Pro4Leu)	LOC129932405, CD46 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081778	NM_172351.3(CD46):c.1083-6G>A	CD46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080468	NM_172351.3(CD46):c.454G>A (p.Gly152Ser)	CD46 (G152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078079	NM_172351.3(CD46):c.886del (p.Ala296fs)	CD46 (A296fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2075354	NM_172351.3(CD46):c.408del (p.Glu137fs)	CD46 (E137fs)	Deletion (frameshift variant)	not provided	GPathogenic

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