ClinVar for Gene (Select 1604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	LRRN2, MAPKAPK2 +185 more	Deletion	not provided	GPathogenic
Select item 3140619	NM_000574.5(CD55):c.1136T>C (p.Leu379Ser)	CD55 (L379S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3140618	NM_000574.5(CD55):c.1021C>T (p.His341Tyr)	CD55 (H341Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064847	NM_000574.5(CD55):c.148G>T (p.Glu50Ter)	CD55 (E50*)	Single nucleotide variant (nonsense +1 more)	Protein-losing enteropathy	GLikely pathogenic
Select item 3013443	NM_000574.5(CD55):c.979+8G>C	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009526	NM_000574.5(CD55):c.195T>C (p.Cys65=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007051	NM_000574.5(CD55):c.564C>T (p.Phe188=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998422	NM_000574.5(CD55):c.578+11G>A	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992209	NM_000574.5(CD55):c.664+14A>T	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979629	NM_000574.5(CD55):c.24G>A (p.Val8=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979026	NM_000574.5(CD55):c.943AAAACCACCACA[1] (p.315KTTT[1])	CD55	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2971751	NM_000574.5(CD55):c.437T>C (p.Leu146Pro)	CD55 (L146P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957288	NM_000574.5(CD55):c.1081+12T>C	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955872	NM_000574.5(CD55):c.664+8T>C	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905567	NM_000574.5(CD55):c.1082-10_1082-9insTTTC	CD55	Insertion (intron variant)	not provided	GLikely benign
Select item 2891932	NM_000574.5(CD55):c.579-10G>A	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882610	NM_000574.5(CD55):c.594C>G (p.Gly198=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881552	NM_000574.5(CD55):c.21C>T (p.Ser7=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865999	NM_000574.5(CD55):c.664+15dup	CD55	Duplication (intron variant)	not provided	GBenign
Select item 2851414	NM_000574.5(CD55):c.34C>T (p.Leu12=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848217	NM_000574.5(CD55):c.1078T>C (p.Ser360Pro)	CD55 (S360P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831072	NM_000574.5(CD55):c.578+16C>T	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817394	NM_000574.5(CD55):c.100+18G>A	CD55, LOC129932392	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814224	NM_000574.5(CD55):c.495T>C (p.Asn165=)	CD55	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2806928	NM_000574.5(CD55):c.39C>A (p.Pro13=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796629	NM_000574.5(CD55):c.260G>A (p.Trp87Ter)	CD55 (W87*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2795959	NM_000574.5(CD55):c.570T>C (p.Cys190=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778234	NM_000574.5(CD55):c.1061-17T>C	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765239	NM_000574.5(CD55):c.578+12C>T	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750168	NM_000574.5(CD55):c.117C>T (p.Pro39=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748548	NM_000574.5(CD55):c.867T>C (p.Thr289=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2738078	NM_000574.5(CD55):c.15G>A (p.Arg5=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715480	NM_000574.5(CD55):c.427C>T (p.Leu143=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2714425	NM_000574.5(CD55):c.639G>A (p.Trp213Ter)	CD55 (W213*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2705352	NM_000574.5(CD55):c.450A>G (p.Lys150=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631765	NM_000574.5(CD55):c.101-2A>C	CD55	Single nucleotide variant (splice acceptor variant)	CD55-related disorder	GLikely pathogenic
Select item 2630974	NM_000574.5(CD55):c.517C>T (p.Gln173Ter)	CD55 (Q173*)	Single nucleotide variant (nonsense +1 more)	CD55-related disorder	GLikely pathogenic
Select item 2555236	NM_000574.5(CD55):c.698A>G (p.Asn233Ser)	CD55 (N233S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500014	NM_000574.5(CD55):c.717A>G (p.Glu239=)	CD55	Single nucleotide variant (synonymous variant +1 more)	Cromer blood group system +1 more	GLikely benign
Select item 2475851	NM_000574.5(CD55):c.671A>G (p.Tyr224Cys)	CD55 (Y224C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2346526	NM_000574.5(CD55):c.818A>G (p.Glu273Gly)	CD55 (E273G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336987	NM_000574.5(CD55):c.4A>G (p.Thr2Ala)	CD55 (T2A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291148	NM_000574.5(CD55):c.980C>T (p.Ala327Val)	CD55 (A327V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256483	NM_000574.5(CD55):c.640A>G (p.Ser214Gly)	CD55 (S214G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247776	NM_000574.5(CD55):c.388C>A (p.Arg130Ser)	CD55 (R130S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202924	NM_000574.5(CD55):c.239T>A (p.Ile80Asn)	CD55 (I80N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196772	NM_000574.5(CD55):c.574A>G (p.Thr192Ala)	CD55 (T192A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192351	NM_000574.5(CD55):c.896C>G (p.Pro299Arg)	CD55 (P299R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179352	NM_000574.5(CD55):c.874G>T (p.Val292Phe)	CD55 (V292F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135593	NM_000574.5(CD55):c.665-1G>A	CD55	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2130276	NM_000574.5(CD55):c.537C>A (p.Gly179=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2129835	NM_000574.5(CD55):c.1060+19G>A	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120200	NM_000574.5(CD55):c.478+14T>G	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113037	NM_000574.5(CD55):c.169G>A (p.Glu57Lys)	CD55 (E57K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109834	NM_000574.5(CD55):c.124G>A (p.Val42Ile)	CD55 (V42I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2098346	NM_000574.5(CD55):c.100+5G>A	CD55	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2097227	NM_000574.5(CD55):c.479-1G>A	CD55	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2096110	NM_000574.5(CD55):c.387C>T (p.Cys129=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2083230	NM_000574.5(CD55):c.579-2A>T	CD55	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2052037	NM_000574.5(CD55):c.298G>A (p.Val100Met)	CD55 (V100M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041900	NM_000574.5(CD55):c.286+10T>G	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037923	NM_000574.5(CD55):c.967C>T (p.Pro323Ser)	CD55 (P323S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2036821	NM_000574.5(CD55):c.1061-14C>T	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034251	NM_000574.5(CD55):c.262dup (p.Ser88fs)	CD55 (S88fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2034244	NM_000574.5(CD55):c.255T>C (p.Ser85=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2025843	NM_000574.5(CD55):c.1060+18A>T	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013838	NM_000574.5(CD55):c.553A>G (p.Thr185Ala)	CD55 (T185A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2012685	NM_000574.5(CD55):c.776T>C (p.Met259Thr)	CD55 (M259T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005054	NM_000574.5(CD55):c.670dup (p.Tyr224fs)	CD55 (Y224fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2004049	NM_000574.5(CD55):c.140C>G (p.Pro47Arg)	CD55 (P47R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000463	NM_000574.5(CD55):c.303A>T (p.Pro101=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996842	NM_000574.5(CD55):c.43C>T (p.Leu15Phe)	CD55 (L15F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996628	NM_000574.5(CD55):c.101-19T>C	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994688	NM_000574.5(CD55):c.1041A>G (p.Lys347=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989407	NM_000574.5(CD55):c.104A>T (p.Asp35Val)	CD55 (D35V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979111	NM_000574.5(CD55):c.1116G>A (p.Gly372=)	CD55 (D412N +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1971220	NM_000574.5(CD55):c.959C>A (p.Thr320Asn)	CD55 (T320N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970575	NM_000574.5(CD55):c.1082-10_1082-9insTA	CD55	Insertion (intron variant)	not provided	GLikely benign
Select item 1968280	NM_000574.5(CD55):c.17C>A (p.Pro6Gln)	CD55 (P6Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967786	NM_000574.5(CD55):c.70C>T (p.Leu24=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962971	NM_000574.5(CD55):c.818_820del (p.Glu273del)	CD55 (E273del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1954930	NM_000574.5(CD55):c.513T>C (p.Asn171=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954302	NM_000574.5(CD55):c.169G>T (p.Glu57Ter)	CD55 (E57*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1953269	NM_000574.5(CD55):c.512A>G (p.Asn171Ser)	CD55 (N171S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1942790	NM_000574.5(CD55):c.1069C>T (p.Arg357Cys)	CD55 (R357C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938853	NM_000574.5(CD55):c.573C>T (p.Asn191=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935385	NM_000574.5(CD55):c.333G>A (p.Gln111=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1932499	NM_000574.5(CD55):c.1118C>T (p.Thr373Met)	CD55 (T373M)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1931598	NM_000574.5(CD55):c.979+14A>G	CD55	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1929111	NM_000574.5(CD55):c.1039A>C (p.Lys347Gln)	CD55 (K347Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923413	NM_000574.5(CD55):c.185C>T (p.Thr62Met)	CD55 (T62M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922250	NM_000574.5(CD55):c.1130T>C (p.Met377Thr)	CD55 (M377T)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1922090	NM_000574.5(CD55):c.578+13A>C	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915221	NM_000574.5(CD55):c.1061-9C>T	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912663	NM_000574.5(CD55):c.810T>C (p.Asn270=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912540	NM_000574.5(CD55):c.478+20G>A	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905298	NM_000574.5(CD55):c.503A>G (p.Glu168Gly)	CD55 (E168G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903270	NM_000574.5(CD55):c.1099T>C (p.Leu367=)	CD55 (V406A +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1899027	NM_000574.5(CD55):c.853+20A>G	CD55	Single nucleotide variant (intron variant)	not provided	GLikely benign

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