ClinVar for Gene (Select 10499) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298833	NM_006540.4(NCOA2):c.2261C>T (p.Thr754Ile)	NCOA2 (T600I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298832	NM_006540.4(NCOA2):c.1585T>C (p.Tyr529His)	NCOA2 (Y529H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298831	NM_006540.4(NCOA2):c.3005T>C (p.Leu1002Pro)	NCOA2 (L933P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298829	NM_006540.4(NCOA2):c.3230G>C (p.Gly1077Ala)	NCOA2 (G923A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298828	NM_006540.4(NCOA2):c.1729A>T (p.Met577Leu)	NCOA2 (M423L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298827	NM_006540.4(NCOA2):c.4174G>A (p.Val1392Met)	NCOA2 (V1238M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183700	NM_006540.4(NCOA2):c.649A>G (p.Asn217Asp)	NCOA2 (N63D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183690	NM_006540.4(NCOA2):c.532A>G (p.Lys178Glu)	NCOA2 (K24E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183685	NM_006540.4(NCOA2):c.4298A>G (p.Asn1433Ser)	NCOA2 (N1279S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183665	NM_006540.4(NCOA2):c.3743G>A (p.Arg1248Gln)	NCOA2 (R1248Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183660	NM_006540.4(NCOA2):c.3595G>T (p.Ala1199Ser)	NCOA2 (A1199S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183654	NM_006540.4(NCOA2):c.3395T>C (p.Val1132Ala)	NCOA2 (V1063A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183627	NM_006540.4(NCOA2):c.3162G>C (p.Gln1054His)	NCOA2 (Q1054H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183607	NM_006540.4(NCOA2):c.2959A>G (p.Ser987Gly)	NCOA2 (S918G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183604	NM_006540.4(NCOA2):c.2710C>G (p.Pro904Ala)	NCOA2 (P750A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183603	NM_006540.4(NCOA2):c.2696C>T (p.Ala899Val)	NCOA2 (A745V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183599	NM_006540.4(NCOA2):c.2536C>T (p.Leu846Phe)	NCOA2 (L846F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183590	NM_006540.4(NCOA2):c.2185A>G (p.Thr729Ala)	NCOA2 (T729A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183588	NM_006540.4(NCOA2):c.2152G>A (p.Glu718Lys)	NCOA2 (E718K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183585	NM_006540.4(NCOA2):c.1895T>C (p.Leu632Pro)	NCOA2 (L632P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183576	NM_006540.4(NCOA2):c.1799C>G (p.Ala600Gly)	NCOA2 (A446G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183573	NM_006540.4(NCOA2):c.1789A>G (p.Thr597Ala)	NCOA2 (T597A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183569	NM_006540.4(NCOA2):c.1702A>C (p.Asn568His)	NCOA2 (N568H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183561	NM_006540.4(NCOA2):c.138A>G (p.Ile46Met)	NCOA2 (I46M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183560	NM_006540.4(NCOA2):c.1314G>A (p.Met438Ile)	NCOA2 (M438I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183559	NM_006540.4(NCOA2):c.1310C>T (p.Pro437Leu)	NCOA2 (P283L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183557	NM_006540.4(NCOA2):c.1220C>T (p.Ala407Val)	NCOA2 (A253V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
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 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 2616558	NM_006540.4(NCOA2):c.3874C>A (p.Pro1292Thr)	NCOA2 (P1223T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614875	NM_006540.4(NCOA2):c.657A>C (p.Glu219Asp)	NCOA2 (E219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608678	NM_006540.4(NCOA2):c.3958A>T (p.Thr1320Ser)	NCOA2 (T1320S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591231	NM_006540.4(NCOA2):c.3002C>T (p.Thr1001Met)	NCOA2 (T932M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535084	NM_006540.4(NCOA2):c.3826A>G (p.Met1276Val)	NCOA2 (M1122V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527617	NM_006540.4(NCOA2):c.1330T>C (p.Ser444Pro)	NCOA2 (S290P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522508	NM_006540.4(NCOA2):c.1381A>G (p.Ser461Gly)	NCOA2 (S307G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521065	NM_006540.4(NCOA2):c.3039A>T (p.Glu1013Asp)	NCOA2 (E944D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496345	NM_006540.4(NCOA2):c.1484G>C (p.Gly495Ala)	NCOA2 (G341A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493093	NM_006540.4(NCOA2):c.1037T>C (p.Leu346Pro)	NCOA2 (L192P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471822	NM_006540.4(NCOA2):c.3262C>T (p.Arg1088Trp)	NCOA2 (R1019W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463186	NM_006540.4(NCOA2):c.1398A>T (p.Lys466Asn)	NCOA2 (K312N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408744	NM_006540.4(NCOA2):c.3389C>T (p.Ala1130Val)	NCOA2 (A1130V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404198	NM_006540.4(NCOA2):c.2938A>G (p.Met980Val)	NCOA2 (M980V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388501	NM_006540.4(NCOA2):c.3164C>T (p.Pro1055Leu)	NCOA2 (P1055L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380768	NM_006540.4(NCOA2):c.4354A>G (p.Met1452Val)	NCOA2 (M1383V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380210	NM_006540.4(NCOA2):c.3782G>A (p.Arg1261Gln)	NCOA2 (R1107Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376705	NM_006540.4(NCOA2):c.1144A>G (p.Met382Val)	NCOA2 (M382V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371415	NM_006540.4(NCOA2):c.3506G>A (p.Arg1169His)	NCOA2 (R1015H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366997	NM_006540.4(NCOA2):c.3066G>C (p.Gln1022His)	NCOA2 (Q868H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361322	NM_006540.4(NCOA2):c.2472C>A (p.Asp824Glu)	NCOA2 (D670E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335367	NM_006540.4(NCOA2):c.2327C>T (p.Ala776Val)	NCOA2 (A622V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331880	NM_006540.4(NCOA2):c.1497C>A (p.Ser499Arg)	NCOA2 (S345R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329632	NM_006540.4(NCOA2):c.3048G>A (p.Met1016Ile)	NCOA2 (M947I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327037	NM_006540.4(NCOA2):c.404A>G (p.Asn135Ser)	NCOA2 (N135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326698	NM_006540.4(NCOA2):c.1525C>T (p.Pro509Ser)	NCOA2 (P355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321762	NM_006540.4(NCOA2):c.1478G>A (p.Ser493Asn)	NCOA2 (S339N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313655	NM_006540.4(NCOA2):c.3370A>G (p.Ile1124Val)	NCOA2 (I970V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312623	NM_006540.4(NCOA2):c.1891A>G (p.Arg631Gly)	NCOA2 (R477G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298180	NM_006540.4(NCOA2):c.1703A>G (p.Asn568Ser)	NCOA2 (N568S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297474	NM_006540.4(NCOA2):c.4199G>T (p.Gly1400Val)	NCOA2 (G1400V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294895	NM_006540.4(NCOA2):c.817C>G (p.Arg273Gly)	NCOA2 (R119G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282961	NM_006540.4(NCOA2):c.610G>A (p.Val204Ile)	NCOA2 (V204I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276804	NM_006540.4(NCOA2):c.2186C>A (p.Thr729Asn)	NCOA2 (T575N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268476	NM_006540.4(NCOA2):c.1151C>T (p.Pro384Leu)	NCOA2 (P230L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267586	NM_006540.4(NCOA2):c.587A>G (p.His196Arg)	NCOA2 (H196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256660	NM_006540.4(NCOA2):c.1718C>G (p.Pro573Arg)	NCOA2 (P573R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245407	NM_006540.4(NCOA2):c.2876C>T (p.Ser959Leu)	NCOA2 (S805L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243664	NM_006540.4(NCOA2):c.4279A>G (p.Met1427Val)	NCOA2 (M1273V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228725	NM_006540.4(NCOA2):c.2018C>G (p.Pro673Arg)	NCOA2 (P519R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213678	NM_006540.4(NCOA2):c.100A>G (p.Thr34Ala)	NCOA2 (T34A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206457	NM_006540.4(NCOA2):c.3104C>T (p.Pro1035Leu)	NCOA2 (P1035L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	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 1527439	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 1340774	GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not provided	GPathogenic
Select item 979238	GRCh37/hg19 8q13.3(chr8:71244655-71685822)x3	LACTB2, NCOA2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815135	GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3	TRAM1, PRDM14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 783528	NM_006540.4(NCOA2):c.3666T>C (p.Pro1222=)	NCOA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781659	NM_006540.4(NCOA2):c.1653G>A (p.Ser551=)	NCOA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776356	NM_006540.4(NCOA2):c.18A>G (p.Glu6=)	NCOA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 760989	NM_006540.4(NCOA2):c.4086C>T (p.Gly1362=)	NCOA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723953	NM_006540.4(NCOA2):c.846T>G (p.Ser282=)	NCOA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720153	NM_006540.4(NCOA2):c.3394G>A (p.Val1132Ile)	NCOA2 (V1132I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443307	GRCh37/hg19 8q13.3(chr8:71198990-71920676)x1	LACTB2, NCOA2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441934	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253642	GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1	PRDM14, SULF1 +6 more	Copy number loss	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
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 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 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

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