7673[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 2389972	NM_006312.6(NCOR2):c.7537A>T (p.Ser2513Cys)	NCOR2 (S2457C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389971	NM_006312.6(NCOR2):c.7534G>T (p.Asp2512Tyr)	NCOR2 (D2512Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389970	NM_006312.6(NCOR2):c.7528C>G (p.Leu2510Val)	NCOR2 (L2500V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389968	NM_006312.6(NCOR2):c.7526C>G (p.Thr2509Arg)	NCOR2 (T2499R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389967	NM_006312.6(NCOR2):c.7520A>C (p.Tyr2507Ser)	NCOR2 (Y2497S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396257	NM_006312.6(NCOR2):c.7517A>T (p.Gln2506Leu)	NCOR2 (Q2496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544830	NM_006312.6(NCOR2):c.7516C>A (p.Gln2506Lys)	NCOR2 (Q2450K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255712	NM_006312.6(NCOR2):c.7501C>T (p.Pro2501Ser)	NCOR2 (P2491S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185205	NM_006312.6(NCOR2):c.7483T>C (p.Trp2495Arg)	NCOR2 (W2495R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185202	NM_006312.6(NCOR2):c.7477C>T (p.His2493Tyr)	NCOR2 (H2483Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271601	NM_006312.6(NCOR2):c.7465G>A (p.Ala2489Thr)	NCOR2 (A2433T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3185198	NM_006312.6(NCOR2):c.7448C>T (p.Ala2483Val)	NCOR2 (A2427V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347346	NM_006312.6(NCOR2):c.7447G>A (p.Ala2483Thr)	NCOR2 (A2427T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314808	NM_006312.6(NCOR2):c.7433C>T (p.Pro2478Leu)	NCOR2 (P2422L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039817	NM_006312.6(NCOR2):c.7410G>A (p.Ala2470=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 3298910	NM_006312.6(NCOR2):c.7409C>T (p.Ala2470Val)	NCOR2 (A2470V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628878	NM_006312.6(NCOR2):c.7400G>A (p.Arg2467Gln)	NCOR2 (R2411Q +2 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GUncertain significance
Select item 3052029	NM_006312.6(NCOR2):c.7364-5C>T	NCOR2	Single nucleotide variant (intron variant)	NCOR2-related disorder	GLikely benign
Select item 3047964	NM_006312.6(NCOR2):c.7359C>T (p.Ser2453=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 2373882	NM_006312.6(NCOR2):c.7334G>A (p.Arg2445His)	NCOR2 (R2435H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185187	NM_006312.6(NCOR2):c.7333C>T (p.Arg2445Cys)	NCOR2 (R2389C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298932	NM_006312.6(NCOR2):c.7313G>A (p.Arg2438His)	NCOR2 (R2428H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050430	NM_006312.6(NCOR2):c.7296G>A (p.Ser2432=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GBenign
Select item 3050726	NM_006312.6(NCOR2):c.7263G>T (p.Gly2421=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GBenign
Select item 2335734	NM_006312.6(NCOR2):c.7232C>T (p.Ala2411Val)	NCOR2 (A2411V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044033	NM_006312.6(NCOR2):c.7189G>A (p.Gly2397Ser)	NCOR2 (G2341S +2 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GLikely benign
Select item 3044510	NM_006312.6(NCOR2):c.7188C>T (p.Gly2396=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 2409125	NM_006312.6(NCOR2):c.7144G>A (p.Ala2382Thr)	NCOR2 (A2372T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383546	NM_006312.6(NCOR2):c.7076C>T (p.Pro2359Leu)	NCOR2 (P2349L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397042	NM_006312.6(NCOR2):c.7069T>A (p.Ser2357Thr)	NCOR2 (S2347T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185176	NM_006312.6(NCOR2):c.7004C>G (p.Thr2335Ser)	NCOR2 (T2325S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185172	NM_006312.6(NCOR2):c.6971A>G (p.Tyr2324Cys)	NCOR2 (Y2314C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542092	NM_006312.6(NCOR2):c.6764G>A (p.Gly2255Asp)	NCOR2 (G2245D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643548	NM_006312.6(NCOR2):c.6720G>A (p.Pro2240=)	NCOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235883	NM_006312.6(NCOR2):c.6712G>A (p.Val2238Met)	NCOR2 (V2238M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3039576	NM_006312.6(NCOR2):c.6699C>T (p.His2233=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 3041930	NM_006312.6(NCOR2):c.6675G>A (p.Pro2225=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 3298906	NM_006312.6(NCOR2):c.6674C>T (p.Pro2225Leu)	NCOR2 (P2225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359358	NM_006312.6(NCOR2):c.6664G>T (p.Val2222Leu)	NCOR2 (V2212L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041995	NM_006312.6(NCOR2):c.6625A>C (p.Thr2209Pro)	NCOR2 (T2199P +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GBenign
Select item 2643549	NM_006312.6(NCOR2):c.6600C>G (p.Gly2200=)	NCOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033094	NM_006312.6(NCOR2):c.6591C>T (p.Ser2197=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GBenign
Select item 2238764	NM_006312.6(NCOR2):c.6581C>A (p.Ser2194Tyr)	NCOR2 (S2184Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033778	NM_006312.6(NCOR2):c.6573C>G (p.Ala2191=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 3298929	NM_006312.6(NCOR2):c.6550C>T (p.Pro2184Ser)	NCOR2 (P2174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376336	NM_006312.6(NCOR2):c.6548C>T (p.Pro2183Leu)	NCOR2 (P2173L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298930	NM_006312.6(NCOR2):c.6533G>A (p.Ser2178Asn)	NCOR2 (S2178N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204797	NM_006312.6(NCOR2):c.6521G>A (p.Arg2174His)	NCOR2 (R2174H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974987	NM_006312.6(NCOR2):c.6520C>T (p.Arg2174Cys)	NCOR2 (R2164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643550	NM_006312.6(NCOR2):c.6459C>T (p.Ser2153=)	NCOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3034934	NM_006312.6(NCOR2):c.6411+8C>T	NCOR2	Single nucleotide variant (intron variant)	NCOR2-related disorder	GLikely benign
Select item 3298935	NM_006312.6(NCOR2):c.6391A>G (p.Thr2131Ala)	NCOR2 (T2121A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555318	NM_006312.6(NCOR2):c.6346C>A (p.Leu2116Met)	NCOR2 (L2106M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034040	NM_006312.6(NCOR2):c.6345G>A (p.Pro2115=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GBenign
Select item 2515281	NM_006312.6(NCOR2):c.6344C>T (p.Pro2115Leu)	NCOR2 (P2105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185141	NM_006312.6(NCOR2):c.6320C>T (p.Pro2107Leu)	NCOR2 (P2097L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347923	NM_006312.6(NCOR2):c.6292G>A (p.Ala2098Thr)	NCOR2 (A2088T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269642	NM_006312.6(NCOR2):c.6265+16T>C	NCOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045095	NM_006312.6(NCOR2):c.6251G>A (p.Arg2084Gln)	NCOR2 (R2074Q +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GLikely benign
Select item 2538741	NM_006312.6(NCOR2):c.6235C>G (p.Leu2079Val)	NCOR2 (L2069V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185133	NM_006312.6(NCOR2):c.6190G>A (p.Asp2064Asn)	NCOR2 (D2054N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050628	NM_006312.6(NCOR2):c.6156C>T (p.Pro2052=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GBenign
Select item 3298922	NM_006312.6(NCOR2):c.6142G>A (p.Glu2048Lys)	NCOR2 (E2048K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185125	NM_006312.6(NCOR2):c.6137G>A (p.Ser2046Asn)	NCOR2 (S2046N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295779	NM_006312.6(NCOR2):c.6137G>C (p.Ser2046Thr)	NCOR2 (S2036T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185122	NM_006312.6(NCOR2):c.6047C>T (p.Ser2016Leu)	NCOR2 (S2016L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041055	NM_006312.6(NCOR2):c.6041C>T (p.Ser2014Leu)	NCOR2 (S2004L +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GLikely benign
Select item 3298926	NM_006312.6(NCOR2):c.6040T>A (p.Ser2014Thr)	NCOR2 (S2014T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039820	NM_006312.6(NCOR2):c.6030G>A (p.Ala2010=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 2457298	NM_006312.6(NCOR2):c.6023C>T (p.Pro2008Leu)	NCOR2 (P1998L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185119	NM_006312.6(NCOR2):c.6017C>T (p.Pro2006Leu)	NCOR2 (P1996L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049665	NM_006312.6(NCOR2):c.6011C>T (p.Ala2004Val)	NCOR2 (A1994V +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GBenign
Select item 3056105	NM_006312.6(NCOR2):c.6001C>T (p.Pro2001Ser)	NCOR2 (P1991S +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GBenign
Select item 3055423	NM_006312.6(NCOR2):c.5998G>A (p.Ala2000Thr)	NCOR2 (A1990T +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GBenign
Select item 2204928	NM_006312.6(NCOR2):c.5984C>A (p.Pro1995His)	NCOR2 (P1995H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185108	NM_006312.6(NCOR2):c.5978G>A (p.Arg1993His)	NCOR2 (R1993H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185102	NM_006312.6(NCOR2):c.5974G>A (p.Ala1992Thr)	NCOR2 (A1982T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264217	NM_006312.6(NCOR2):c.5965G>A (p.Ala1989Thr)	NCOR2 (A1989T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038759	NM_006312.6(NCOR2):c.5931G>T (p.Glu1977Asp)	NCOR2 (E1967D +1 more)	Single nucleotide variant (missense variant)	NCOR2-related disorder	GBenign
Select item 3049982	NM_006312.6(NCOR2):c.5928G>A (p.Ser1976=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 3298927	NM_006312.6(NCOR2):c.5927C>G (p.Ser1976Trp)	NCOR2 (S1966W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800325	NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr)	NCOR2 (S1960Y +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 3034760	NM_006312.6(NCOR2):c.5892C>T (p.Ser1964=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GLikely benign
Select item 3185097	NM_006312.6(NCOR2):c.5846G>A (p.Arg1949Gln)	NCOR2 (R1949Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185093	NM_006312.6(NCOR2):c.5840G>A (p.Arg1947Gln)	NCOR2 (R1937Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298911	NM_006312.6(NCOR2):c.5839C>T (p.Arg1947Trp)	NCOR2 (R1947W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480917	NM_006312.6(NCOR2):c.5821C>T (p.Arg1941Trp)	NCOR2 (R1931W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045455	NM_006312.6(NCOR2):c.5796C>T (p.Pro1932=)	NCOR2	Single nucleotide variant (synonymous variant)	NCOR2-related disorder	GBenign
Select item 2284150	NM_006312.6(NCOR2):c.5759G>A (p.Gly1920Asp)	NCOR2 (G1910D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377602	NM_006312.6(NCOR2):c.5758G>A (p.Gly1920Ser)	NCOR2 (G1920S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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