ClinVar for Gene (Select 27161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096239	NM_012154.5(AGO2):c.839G>A (p.Arg280His)	AGO2 (R280H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096226	NM_012154.5(AGO2):c.2512G>C (p.Asp838His)	AGO2 (D804H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096222	NM_012154.5(AGO2):c.2260G>A (p.Ala754Thr)	AGO2 (A754T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096206	NM_012154.5(AGO2):c.1180G>A (p.Val394Ile)	AGO2 (V394I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068451	NM_012154.5(AGO2):c.1807G>A (p.Ala603Thr)	AGO2 (A603T)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3066282	NM_012154.5(AGO2):c.1789G>C (p.Asp597His)	AGO2 (D597H)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3065314	NM_012154.5(AGO2):c.1577C>T (p.Thr526Met)	AGO2 (T526M)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3064546	NM_012154.5(AGO2):c.1019C>A (p.Pro340His)	AGO2, LOC126860544 (P340H)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061866	NM_012154.5(AGO2):c.2461G>A (p.Glu821Lys)	AGO2 (E787K +1 more)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3058669	NM_012154.5(AGO2):c.1348G>A (p.Val450Met)	AGO2 (V450M)	Single nucleotide variant (missense variant)	AGO2-related condition	GUncertain significance
Select item 3027200	NM_012154.5(AGO2):c.1857C>G (p.Asp619Glu)	AGO2 (D619E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026382	NM_012154.5(AGO2):c.353C>T (p.Thr118Met)	AGO2 (T118M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026213	NM_012154.5(AGO2):c.2388C>T (p.Ser796=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025790	NM_012154.5(AGO2):c.1119C>A (p.Pro373=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic
Select item 2690857	NM_012154.5(AGO2):c.1870C>T (p.Arg624Cys)	AGO2 (R624C)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2682291	NM_012154.5(AGO2):c.1371C>T (p.Ala457=)	AGO2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2661941	NM_012154.5(AGO2):c.596G>A (p.Trp199Ter)	AGO2, LOC126860545 (W199*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2658868	NM_012154.5(AGO2):c.22+12075G>C	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658867	NM_012154.5(AGO2):c.22+12178A>G	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658866	NM_012154.5(AGO2):c.222C>T (p.Ile74=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658865	NM_012154.5(AGO2):c.474G>A (p.Thr158=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658864	NM_012154.5(AGO2):c.669G>A (p.Ala223=)	AGO2, LOC126860545	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658863	NM_012154.5(AGO2):c.1113G>A (p.Ser371=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658862	NM_012154.5(AGO2):c.1703A>G (p.Asn568Ser)	AGO2 (N568S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658861	NM_012154.5(AGO2):c.1971G>A (p.Thr657=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658860	NM_012154.5(AGO2):c.2035-8A>G	AGO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635221	NM_012154.5(AGO2):c.1404-5T>G	AGO2	Single nucleotide variant (intron variant)	AGO2-related condition	GUncertain significance
Select item 2634438	NM_012154.5(AGO2):c.2212A>T (p.Thr738Ser)	AGO2 (T738S)	Single nucleotide variant (missense variant +1 more)	AGO2-related condition	GUncertain significance
Select item 2633636	NM_012154.5(AGO2):c.2392T>C (p.Ser798Pro)	AGO2 (S764P +1 more)	Single nucleotide variant (missense variant)	AGO2-related condition	GUncertain significance
Select item 2630583	NM_012154.5(AGO2):c.722A>G (p.Lys241Arg)	AGO2 (K241R)	Single nucleotide variant (missense variant)	AGO2-related condition	GUncertain significance
Select item 2580530	NM_012154.5(AGO2):c.113T>G (p.Ile38Ser)	AGO2 (I38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580206	NM_012154.5(AGO2):c.267T>A (p.Asp89Glu)	AGO2 (D89E)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 2580019	NM_012154.5(AGO2):c.402G>C (p.Trp134Cys)	AGO2 (W134C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	ADCY8, AGO2 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2577829	NM_012154.5(AGO2):c.1093A>G (p.Ile365Val)	AGO2 (I365V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2577022	NM_012154.5(AGO2):c.2479G>T (p.Gly827Ter)	AGO2 (G793* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 3	GLikely pathogenic
Select item 2525313	NM_012154.5(AGO2):c.38C>T (p.Ala13Val)	AGO2 (A13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512345	NM_012154.5(AGO2):c.460G>A (p.Val154Ile)	AGO2 (V154I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506386	NM_012154.5(AGO2):c.1015C>T (p.Leu339Phe)	AGO2, LOC126860544 (L339F)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely benign
Select item 2503353	NM_012154.5(AGO2):c.1987C>T (p.Arg663Cys)	AGO2 (R663C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503196	NM_012154.5(AGO2):c.2294A>G (p.Tyr765Cys)	AGO2 (Y731C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501196	NM_012154.5(AGO2):c.1742A>G (p.Gln581Arg)	AGO2 (Q581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500569	NM_012154.5(AGO2):c.1685A>G (p.Asn562Ser)	AGO2 (N562S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446109	NM_012154.5(AGO2):c.1072G>A (p.Asp358Asn)	AGO2 (D358N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443507	NM_012154.5(AGO2):c.1301T>G (p.Val434Gly)	AGO2 (V434G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438919	NM_012154.5(AGO2):c.1889G>A (p.Arg630His)	AGO2 (R630H)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 2430965	NM_012154.5(AGO2):c.1918C>A (p.Gln640Lys)	AGO2 (Q640K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429619	NM_012154.5(AGO2):c.1330A>G (p.Thr444Ala)	AGO2 (T444A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405612	NM_012154.5(AGO2):c.1805C>G (p.Pro602Arg)	AGO2 (P602R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398755	NM_012154.5(AGO2):c.2295T>G (p.Tyr765Ter)	AGO2 (Y731* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2334632	NM_012154.5(AGO2):c.677A>G (p.Lys226Arg)	AGO2, LOC126860545 (K226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333832	NM_012154.5(AGO2):c.181A>G (p.Ile61Val)	AGO2 (I61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992346	NM_012154.5(AGO2):c.2389G>A (p.Val797Met)	AGO2 (V763M +1 more)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 1810488	NM_012154.5(AGO2):c.411C>A (p.Cys137Ter)	AGO2 (C137*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1809476	GRCh37/hg19 8q24.3(chr8:141352715-141656635)x3	AGO2, CHRAC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1804396	NM_012154.5(AGO2):c.821A>G (p.Gln274Arg)	AGO2 (Q274R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803578	NM_012154.5(AGO2):c.2413T>C (p.Tyr805His)	AGO2 (Y771H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803264	NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)	AGO2 (L540P)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1707745	NM_012154.5(AGO2):c.314C>T (p.Pro105Leu)	AGO2 (P105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1703086	NM_012154.5(AGO2):c.560G>C (p.Gly187Ala)	LOC126860545, AGO2 (G187A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702822	NM_012154.5(AGO2):c.1444G>A (p.Gly482Ser)	AGO2 (G482S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702711	NM_012154.5(AGO2):c.685C>G (p.Pro229Ala)	AGO2, LOC126860545 (P229A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702548	NM_012154.5(AGO2):c.551C>T (p.Ala184Val)	AGO2, LOC126860545 (A184V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701673	NM_012154.5(AGO2):c.337-7C>T	AGO2	Single nucleotide variant (intron variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1696492	NM_012154.5(AGO2):c.899G>A (p.Ser300Asn)	AGO2, LOC126860544 (S300N)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1693380	NM_012154.5(AGO2):c.2365A>C (p.Thr789Pro)	AGO2 (T755P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687707	NM_012154.5(AGO2):c.580G>A (p.Gly194Arg)	AGO2, LOC126860545 (G194R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687559	NM_012154.5(AGO2):c.586C>T (p.Arg196Ter)	AGO2, LOC126860545 (R196*)	Single nucleotide variant (nonsense)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1683975	NM_012154.5(AGO2):c.1552G>T (p.Val518Leu)	AGO2 (V518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1425382	NM_012154.5(AGO2):c.349G>T (p.Val117Phe)	AGO2 (V117F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411820	NM_012154.5(AGO2):c.424G>A (p.Ala142Thr)	AGO2 (A142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338874	NM_012154.5(AGO2):c.1443C>T (p.Ala481=)	AGO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1328457	GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	ADCY8, AGO2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 1328183	NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg)	AGO2 (G604R)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 1325742	NM_012154.5(AGO2):c.602G>T (p.Gly201Val)	AGO2, LOC126860545 (G201V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1318625	NM_012154.5(AGO2):c.702_705del (p.Cys235fs)	AGO2, LOC126860545 (C235fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1316034	NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)	AGO2 (R714W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1315853	NM_012154.5(AGO2):c.1073A>T (p.Asp358Val)	AGO2 (D358V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299133	NM_012154.5(AGO2):c.1663A>C (p.Thr555Pro)	AGO2 (T555P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271327	NM_012154.5(AGO2):c.1101G>A (p.Ala367=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270863	NM_012154.5(AGO2):c.336+15A>G	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183693	NM_012154.5(AGO2):c.1890C>T (p.Arg630=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 995796	NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg)	AGO2 (G733R)	Single nucleotide variant (missense variant +1 more)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995795	NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del)	AGO2, LOC126860545 (F182del)	Microsatellite (inframe_deletion)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995794	NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr)	AGO2 (C751Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995793	NM_012154.5(AGO2):c.1091T>C (p.Met364Thr)	AGO2 (M364T)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995792	NM_012154.5(AGO2):c.1070C>T (p.Thr357Met)	AGO2 (T357M)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome +1 more	GPathogenic
Select item 995791	NM_012154.5(AGO2):c.575T>C (p.Leu192Pro)	AGO2, LOC126860545	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic

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