ClinVar for Gene (Select 729) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362687	NM_000065.5(C6):c.446G>A (p.Gly149Asp)	C6 (G149D)	Single nucleotide variant (missense variant)	Complement component 6 deficiency	GUncertain significance
Select item 3262538	NM_000065.5(C6):c.1079A>T (p.Asp360Val)	C6 (D360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262537	NM_000065.5(C6):c.847A>G (p.Ile283Val)	C6 (I283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262536	NM_000065.5(C6):c.98C>T (p.Thr33Ile)	C6 (T33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262535	NM_000065.5(C6):c.1203G>T (p.Arg401Ser)	C6 (R401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262534	NM_000065.5(C6):c.1964T>C (p.Ile655Thr)	C6 (I655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246427	NC_000005.9:g.(?_41142927)_(41181681_?)dup	C6	Duplication	not provided	GUncertain significance
Select item 3246426	NC_000005.9:g.(?_41195874)_(41196055_?)dup	C6	Duplication	not provided	GLikely pathogenic
Select item 3246425	NC_000005.9:g.(?_41199850)_(41203332_?)del	C6	Deletion	not provided	GPathogenic
Select item 3136061	NM_000065.5(C6):c.697C>T (p.Pro233Ser)	C6 (P233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136059	NM_000065.5(C6):c.2242G>A (p.Gly748Arg)	C6 (G748R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136058	NM_000065.5(C6):c.1942G>T (p.Val648Phe)	C6 (V648F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136056	NM_000065.5(C6):c.1802G>A (p.Cys601Tyr)	C6 (C601Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136055	NM_000065.5(C6):c.1778C>T (p.Ala593Val)	C6 (A593V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136054	NM_000065.5(C6):c.1767C>G (p.Cys589Trp)	C6 (C589W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136053	NM_000065.5(C6):c.1515C>A (p.Asn505Lys)	C6 (N505K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136052	NM_000065.5(C6):c.1477T>G (p.Leu493Val)	C6 (L493V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136051	NM_000065.5(C6):c.1387G>A (p.Gly463Ser)	C6 (G463S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065714	NM_000065.5(C6):c.2624-1G>A	C6	Single nucleotide variant (splice acceptor variant)	Complement component 6 deficiency	GLikely pathogenic
Select item 3053599	NM_000065.5(C6):c.867A>G (p.Arg289=)	C6	Single nucleotide variant (synonymous variant)	C6-related disorder	GLikely benign
Select item 3048398	NM_000065.5(C6):c.-3G>A	C6	Single nucleotide variant (5 prime UTR variant)	C6-related disorder	GLikely benign
Select item 3041784	NM_000065.5(C6):c.54G>A (p.Lys18=)	C6	Single nucleotide variant (synonymous variant)	C6-related disorder	GLikely benign
Select item 3029906	NM_000065.5(C6):c.1879_1881delinsAT (p.Asp627fs)	C6 (D627fs)	Indel (frameshift variant)	C6-related disorder	GPathogenic
Select item 3013228	NM_000065.5(C6):c.780T>C (p.Ser260=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013088	NM_000065.5(C6):c.588-10T>G	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008669	NM_000065.5(C6):c.822G>C (p.Gln274His)	C6 (Q274H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008037	NM_000065.5(C6):c.2426A>G (p.Asp809Gly)	C6 (D809G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004037	NM_000065.5(C6):c.2101+17C>T	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999449	NM_000065.5(C6):c.258T>C (p.Asp86=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997731	NM_000065.5(C6):c.2649A>G (p.Leu883=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997037	NM_000065.5(C6):c.226C>T (p.Gln76Ter)	C6 (Q76*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2996817	NM_000065.5(C6):c.369C>T (p.Ala123=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995518	NM_000065.5(C6):c.2291-13T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991451	NM_000065.5(C6):c.660T>C (p.Thr220=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988501	NM_000065.5(C6):c.2443G>A (p.Ala815Thr)	C6 (A815T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987618	NM_000065.5(C6):c.727-6C>T	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987407	NM_000065.5(C6):c.587+10A>G	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985079	NM_000065.5(C6):c.2416_2422dup (p.Asn808fs)	C6 (N808fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2979123	NM_000065.5(C6):c.1785A>G (p.Gln595=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976340	NM_000065.5(C6):c.2381+7G>A	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975940	NM_000065.5(C6):c.2382-5G>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975647	NM_000065.5(C6):c.2436_2440del (p.Ser813fs)	C6 (S813fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2973992	NM_000065.5(C6):c.1458+9A>G	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973720	NM_000065.5(C6):c.1758C>G (p.Thr586=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969163	NM_000065.5(C6):c.1589del (p.Gly530fs)	C6 (G530fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2968201	NM_000065.5(C6):c.446-16T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965364	NM_000065.5(C6):c.1968+16C>T	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960227	NM_000065.5(C6):c.1969-3A>C	C6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2958584	NM_000065.5(C6):c.538T>C (p.Cys180Arg)	C6 (C180R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906086	NM_000065.5(C6):c.1816C>T (p.Arg606Ter)	C6 (R606*)	Single nucleotide variant (nonsense)	Complement component 6 deficiency +1 more	GPathogenic
Select item 2898428	NM_000065.5(C6):c.1202G>A (p.Arg401Lys)	C6 (R401K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897441	NM_000065.5(C6):c.792T>C (p.Asn264=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894908	NM_000065.5(C6):c.717C>T (p.Val239=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894481	NM_000065.5(C6):c.2123T>C (p.Val708Ala)	C6 (V708A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894375	NM_000065.5(C6):c.1352dup (p.Tyr451Ter)	C6 (Y451*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2893529	NM_000065.5(C6):c.1101C>T (p.Thr367=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890038	NM_000065.5(C6):c.534A>T (p.Ala178=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881059	NM_000065.5(C6):c.143+18G>A	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872446	NM_000065.5(C6):c.1809G>C (p.Gly603=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871804	NM_000065.5(C6):c.1856+16G>A	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868843	NM_000065.5(C6):c.1353T>C (p.Tyr451=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868766	NM_000065.5(C6):c.2742G>A (p.Val914=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868254	NM_000065.5(C6):c.1291+14C>T	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866664	NM_000065.5(C6):c.1929G>A (p.Gly643=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864484	NM_000065.5(C6):c.2039G>T (p.Gly680Val)	C6 (G680V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858057	NM_000065.5(C6):c.1458+2T>A	C6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2844616	NM_000065.5(C6):c.1327C>T (p.Leu443=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843890	NM_000065.5(C6):c.39T>C (p.Asn13=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840611	NM_000065.5(C6):c.210T>G (p.Thr70=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834846	NM_000065.5(C6):c.1317A>G (p.Lys439=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833815	NM_000065.5(C6):c.446-1G>A	C6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2827000	NM_000065.5(C6):c.1512G>T (p.Arg504=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826318	NM_000065.5(C6):c.1142T>A (p.Phe381Tyr)	C6 (F381Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821598	NM_000065.5(C6):c.386C>A (p.Pro129Gln)	C6 (P129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819290	NM_000065.5(C6):c.807C>T (p.Gly269=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810046	NM_000065.5(C6):c.2122G>A (p.Val708Ile)	C6 (V708I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804430	NM_000065.5(C6):c.1198G>A (p.Val400Ile)	C6 (V400I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800265	NM_000065.5(C6):c.2304del (p.Lys768fs)	C6 (K768fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2794864	NM_000065.5(C6):c.1066C>T (p.Arg356Ter)	C6 (R356*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2793992	NM_000065.5(C6):c.2451G>A (p.Lys817=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791710	NM_000065.5(C6):c.1591C>A (p.Arg531=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786302	NM_000065.5(C6):c.246C>T (p.Cys82=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780699	NM_000065.5(C6):c.129C>G (p.Thr43=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780545	NM_000065.5(C6):c.2290+17T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775835	NM_000065.5(C6):c.2779C>T (p.Leu927=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760122	NM_000065.5(C6):c.894del (p.Phe299fs)	C6 (F299fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2755564	NM_000065.5(C6):c.2335C>T (p.Gln779Ter)	C6 (Q779*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2750742	NM_000065.5(C6):c.1587T>A (p.Asn529Lys)	C6 (N529K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750704	NM_000065.5(C6):c.726+13A>G	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749838	NM_000065.5(C6):c.2487C>G (p.Leu829=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748896	NM_000065.5(C6):c.420C>A (p.Cys140Ter)	C6 (C140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2742677	NM_000065.5(C6):c.727-2A>G	C6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2671945	NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)	C6 (Q544fs)	Microsatellite (frameshift variant)	Complement component 6 deficiency	GLikely pathogenic
Select item 2635402	NM_000065.5(C6):c.802C>T (p.Gln268Ter)	C6 (Q268*)	Single nucleotide variant (nonsense)	C6-related disorder	GLikely pathogenic
Select item 2623755	NM_000065.5(C6):c.1479G>T (p.Leu493Phe)	C6 (L493F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605318	NM_000065.5(C6):c.50A>C (p.Asn17Thr)	C6 (N17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572986	NM_000065.5(C6):c.2101C>A (p.Arg701=)	C6	Single nucleotide variant (synonymous variant)	Complement component 6 deficiency	GLikely pathogenic
Select item 2569782	NM_000065.5(C6):c.1324T>C (p.Ser442Pro)	C6 (S442P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2521930	NM_000065.5(C6):c.1592G>A (p.Arg531Gln)	C6 (R531Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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