ClinVar for Gene (Select 790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238874	NM_004341.5(CAD):c.5785G>A (p.Val1929Ile)	CAD (V1866I +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238873	NM_004341.5(CAD):c.3494C>T (p.Ala1165Val)	CAD (A1102V +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3136575	NM_004341.5(CAD):c.6475G>A (p.Glu2159Lys)	CAD, LOC126806172 (E2096K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136574	NM_004341.5(CAD):c.6452G>A (p.Arg2151Gln)	CAD, LOC126806172 (R2151Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136572	NM_004341.5(CAD):c.5311T>C (p.Trp1771Arg)	CAD (W1708R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136571	NM_004341.5(CAD):c.518G>A (p.Gly173Glu)	CAD (G173E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136570	NM_004341.5(CAD):c.5023G>A (p.Glu1675Lys)	CAD (E1612K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136569	NM_004341.5(CAD):c.4958T>G (p.Leu1653Arg)	CAD (L1590R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136568	NM_004341.5(CAD):c.4891G>T (p.Gly1631Cys)	CAD (G1568C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136567	NM_004341.5(CAD):c.2173G>T (p.Gly725Cys)	CAD (G725C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136566	NM_004341.5(CAD):c.1763T>A (p.Val588Glu)	CAD (V588E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136565	NM_004341.5(CAD):c.1660G>C (p.Val554Leu)	CAD (V554L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136564	NM_004341.5(CAD):c.1486C>G (p.Arg496Gly)	CAD (R496G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136563	NM_004341.5(CAD):c.1037T>C (p.Met346Thr)	CAD (M346T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068176	NM_004341.5(CAD):c.5734_5757dup (p.His1919_Ser1920insProGlnThrSerProLeuLeuHis)	CAD	Duplication (inframe_insertion)	Coronary artery disease, autosomal dominant 2	GUncertain significance
Select item 3067863	NM_004341.5(CAD):c.5077G>A (p.Glu1693Lys)	CAD (E1630K +1 more)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2	GUncertain significance
Select item 3067838	NM_004341.5(CAD):c.3719G>T (p.Arg1240Leu)	CAD (R1177L +1 more)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2	GUncertain significance
Select item 3067668	NM_004341.5(CAD):c.927T>C (p.Ala309=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062593	GRCh37/hg19 2p23.3(chr2:27319597-27459379)x3	ABHD1, ATRAID +7 more	Copy number gain	not specified	GUncertain significance
Select item 3058355	NM_004341.5(CAD):c.1503C>T (p.Val501=)	CAD	Single nucleotide variant (synonymous variant)	CAD-related disorder	GLikely benign
Select item 3055263	NM_004341.5(CAD):c.5639-4G>A	CAD	Single nucleotide variant (intron variant)	CAD-related disorder	GLikely benign
Select item 3023982	NM_004341.5(CAD):c.2148T>C (p.Pro716=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023831	NM_004341.5(CAD):c.4314+9G>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022975	NM_004341.5(CAD):c.1647G>A (p.Gly549=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022188	NM_004341.5(CAD):c.2646-15C>G	CAD, LOC126806171	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022163	NM_004341.5(CAD):c.3787-12C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021798	NM_004341.5(CAD):c.352+19G>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020591	NM_004341.5(CAD):c.6405G>T (p.Ala2135=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018462	NM_004341.5(CAD):c.5688G>A (p.Pro1896=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016804	NM_004341.5(CAD):c.6552G>A (p.Pro2184=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014908	NM_004341.5(CAD):c.5166G>A (p.Arg1722=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012702	NM_004341.5(CAD):c.4266C>T (p.Phe1422=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012526	NM_004341.5(CAD):c.1281C>T (p.Asn427=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011859	NM_004341.5(CAD):c.399T>C (p.Ser133=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011796	NM_004341.5(CAD):c.10C>T (p.Leu4=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011475	NM_004341.5(CAD):c.6102C>A (p.Ala2034=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011163	NM_004341.5(CAD):c.4734C>T (p.Phe1578=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010774	NM_004341.5(CAD):c.3021C>T (p.Asn1007=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010437	NM_004341.5(CAD):c.5395-15G>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010407	NM_004341.5(CAD):c.810-13C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010381	NM_004341.5(CAD):c.638-13C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010300	NM_004341.5(CAD):c.769C>T (p.Leu257=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009942	NM_004341.5(CAD):c.5286C>T (p.Ser1762=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009230	NM_004341.5(CAD):c.2165_2166del (p.Val722fs)	CAD (V722fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3009204	NM_004341.5(CAD):c.3213C>T (p.Leu1071=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008720	NM_004341.5(CAD):c.4314+14A>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008604	NM_004341.5(CAD):c.810-12T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008035	NM_004341.5(CAD):c.6222+13G>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007523	NM_004341.5(CAD):c.5574C>T (p.Ala1858=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007276	NM_004341.5(CAD):c.2136C>T (p.Gly712=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007109	NM_004341.5(CAD):c.5884-14T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006877	NM_004341.5(CAD):c.4455T>C (p.Phe1485=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006324	NM_004341.5(CAD):c.1290G>A (p.Thr430=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005948	NM_004341.5(CAD):c.4318C>T (p.Leu1440=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005808	NM_004341.5(CAD):c.6483C>T (p.Cys2161=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005681	NM_004341.5(CAD):c.6480+15T>C	CAD, LOC126806172	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005461	NM_004341.5(CAD):c.5178C>T (p.Asp1726=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005042	NM_004341.5(CAD):c.5593+15C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004921	NM_004341.5(CAD):c.353-9T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004729	NM_004341.5(CAD):c.6531G>A (p.Lys2177=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004543	NM_004341.5(CAD):c.6366C>T (p.Arg2122=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004528	NM_004341.5(CAD):c.768G>A (p.Gln256=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004105	NM_004341.5(CAD):c.3240C>T (p.Thr1080=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003857	NM_004341.5(CAD):c.4397-4C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003628	NM_004341.5(CAD):c.2992-5C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002680	NM_004341.5(CAD):c.6351C>T (p.Ala2117=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002651	NM_004341.5(CAD):c.5943A>G (p.Ala1981=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002603	NM_004341.5(CAD):c.1872G>A (p.Leu624=)	CAD	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3002202	NM_004341.5(CAD):c.3720G>A (p.Arg1240=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002118	NM_004341.5(CAD):c.2992-8C>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001789	NM_004341.5(CAD):c.6678G>A (p.Ter2226=)	CAD, LOC126806172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999925	NM_004341.5(CAD):c.6097-19A>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999869	NM_004341.5(CAD):c.2338C>T (p.Leu780=)	CAD, LOC126806171	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999633	NM_004341.5(CAD):c.2991+11T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999179	NM_004341.5(CAD):c.223-7T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998969	NM_004341.5(CAD):c.4956C>T (p.Arg1652=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998921	NM_004341.5(CAD):c.2401-20G>C	CAD, LOC126806171	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998676	NM_004341.5(CAD):c.2991+9G>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998549	NM_004341.5(CAD):c.4564-4C>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998070	NM_004341.5(CAD):c.171C>T (p.Ile57=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997642	NM_004341.5(CAD):c.83-15G>A	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997619	NM_004341.5(CAD):c.2607T>A (p.Leu869=)	CAD, LOC126806171	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997548	NM_004341.5(CAD):c.6378+12A>G	CAD, LOC126806172	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997234	NM_004341.5(CAD):c.1620+15T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997016	NM_004341.5(CAD):c.6576-15_6576-5del	CAD, LOC126806172	Deletion (intron variant)	not provided	GLikely benign
Select item 2996031	NM_004341.5(CAD):c.2032-17A>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995603	NM_004341.5(CAD):c.1788A>C (p.Gly596=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995088	NM_004341.5(CAD):c.3400-11C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995087	NM_004341.5(CAD):c.3312T>C (p.Asp1104=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994978	NM_004341.5(CAD):c.72C>T (p.Ala24=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993733	NM_004341.5(CAD):c.4397-7C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993623	NM_004341.5(CAD):c.2893-11C>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993273	NM_004341.5(CAD):c.1621-6T>C	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993173	NM_004341.5(CAD):c.5496+20del	CAD	Deletion (intron variant)	not provided	GLikely benign
Select item 2993079	NM_004341.5(CAD):c.3408C>T (p.Asp1136=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992037	NM_004341.5(CAD):c.5254-11C>T	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991840	NM_004341.5(CAD):c.1109-14C>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991211	NM_004341.5(CAD):c.1584T>C (p.His528=)	CAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991208	NM_004341.5(CAD):c.1387-10C>G	CAD	Single nucleotide variant (intron variant)	not provided	GLikely benign

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