3263[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 144715	GRCh38/hg38 8q24.3(chr8:139864393-141031612)x3	AGO2, C8orf17 +41 more	Copy number gain	See cases	GUncertain significance
Select item 3370266	NM_012154.5(AGO2):c.2518dup (p.Gln840fs)	AGO2 (Q806fs +1 more)	Duplication (frameshift variant)	not provided	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 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 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 3336362	NM_012154.5(AGO2):c.2452G>A (p.Val818Met)	AGO2 (V784M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3371904	NM_012154.5(AGO2):c.2446C>T (p.His816Tyr)	AGO2 (H782Y +1 more)	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 2633636	NM_012154.5(AGO2):c.2392T>C (p.Ser798Pro)	AGO2 (S764P +1 more)	Single nucleotide variant (missense variant)	AGO2-related disorder	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 3026213	NM_012154.5(AGO2):c.2388C>T (p.Ser796=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252789	NM_012154.5(AGO2):c.2375G>A (p.Arg792His)	AGO2 (R758H +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 995794	NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr)	AGO2 (C751Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3234530	NM_012154.5(AGO2):c.2229C>T (p.Pro743=)	AGO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2634438	NM_012154.5(AGO2):c.2212A>T (p.Thr738Ser)	AGO2 (T738S)	Single nucleotide variant (missense variant +1 more)	AGO2-related disorder	GUncertain significance
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 786125	NM_012154.5(AGO2):c.2169+7T>C	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316034	NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)	AGO2 (R714W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3367279	NM_012154.5(AGO2):c.2113A>G (p.Ile705Val)	AGO2 (I705V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658860	NM_012154.5(AGO2):c.2035-8A>G	AGO2	Single nucleotide variant (intron variant)	not provided	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 3343248	NM_012154.5(AGO2):c.1973G>A (p.Arg658His)	AGO2 (R658H)	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 709067	NM_012154.5(AGO2):c.1929C>T (p.Ala643=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2430965	NM_012154.5(AGO2):c.1918C>A (p.Gln640Lys)	AGO2 (Q640K)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1183693	NM_012154.5(AGO2):c.1890C>T (p.Arg630=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2690857	NM_012154.5(AGO2):c.1870C>T (p.Arg624Cys)	AGO2 (R624C)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	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 1328183	NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg)	AGO2 (G604R)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 725082	NM_012154.5(AGO2):c.1809C>T (p.Ala603=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2405612	NM_012154.5(AGO2):c.1805C>G (p.Pro602Arg)	AGO2 (P602R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250802	NM_012154.5(AGO2):c.1803C>G (p.Pro601=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3252830	NM_012154.5(AGO2):c.1774A>G (p.Ile592Val)	AGO2 (I592V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716646	NM_012154.5(AGO2):c.1749-4G>A	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
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 786126	NM_012154.5(AGO2):c.1707C>G (p.Val569=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2500569	NM_012154.5(AGO2):c.1685A>G (p.Asn562Ser)	AGO2 (N562S)	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 1803264	NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)	AGO2 (L540P)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 760897	NM_012154.5(AGO2):c.1589-4T>G	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3339377	NM_012154.5(AGO2):c.1589-20G>T	AGO2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1683975	NM_012154.5(AGO2):c.1552G>T (p.Val518Leu)	AGO2 (V518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786127	NM_012154.5(AGO2):c.1533G>A (p.Thr511=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1338874	NM_012154.5(AGO2):c.1443C>T (p.Ala481=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3372901	NM_012154.5(AGO2):c.1431C>G (p.Ile477Met)	AGO2 (I477M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364110	NM_012154.5(AGO2):c.1414G>A (p.Glu472Lys)	AGO2 (E472K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635221	NM_012154.5(AGO2):c.1404-5T>G	AGO2	Single nucleotide variant (intron variant)	AGO2-related disorder	GUncertain significance
Select item 768267	NM_012154.5(AGO2):c.1403+9C>G	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2682291	NM_012154.5(AGO2):c.1371C>T (p.Ala457=)	AGO2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3058669	NM_012154.5(AGO2):c.1348G>A (p.Val450Met)	AGO2 (V450M)	Single nucleotide variant (missense variant)	AGO2-related disorder	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 2443507	NM_012154.5(AGO2):c.1301T>G (p.Val434Gly)	AGO2 (V434G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709179	NM_012154.5(AGO2):c.1269+4C>T	AGO2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3370250	NM_012154.5(AGO2):c.1222G>A (p.Val408Met)	AGO2 (V408M)	Single nucleotide variant (missense variant)	not provided	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 3025790	NM_012154.5(AGO2):c.1119C>A (p.Pro373=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372205	NM_012154.5(AGO2):c.1115C>T (p.Ala372Val)	AGO2 (A372V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658863	NM_012154.5(AGO2):c.1113G>A (p.Ser371=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1271327	NM_012154.5(AGO2):c.1101G>A (p.Ala367=)	AGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 995793	NM_012154.5(AGO2):c.1091T>C (p.Met364Thr)	AGO2 (M364T)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic
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 2446109	NM_012154.5(AGO2):c.1072G>A (p.Asp358Asn)	AGO2 (D358N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 3364087	NM_012154.5(AGO2):c.995A>C (p.Gln332Pro)	AGO2, LOC126860544 (Q332P)	Single nucleotide variant (missense variant)	not provided	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

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