24723[HGNC] - ClinVar

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Items: 61

	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 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 3263464	NM_024560.4(ACSS3):c.65C>A (p.Pro22His)	ACSS3 (P22H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141130	NM_024560.4(ACSS3):c.83G>T (p.Arg28Leu)	ACSS3 (R28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141042	NM_024560.4(ACSS3):c.100C>T (p.Leu34Phe)	ACSS3 (L34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263469	NM_024560.4(ACSS3):c.169G>C (p.Gly57Arg)	ACSS3 (G57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245009	NM_024560.4(ACSS3):c.169G>A (p.Gly57Ser)	ACSS3 (G57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263157	NM_024560.4(ACSS3):c.172A>G (p.Ser58Gly)	ACSS3 (S58G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2330114	NM_024560.4(ACSS3):c.239C>T (p.Ala80Val)	ACSS3 (A80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620062	NM_024560.4(ACSS3):c.326T>G (p.Met109Arg)	ACSS3 (M108R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141094	NM_024560.4(ACSS3):c.343A>G (p.Asn115Asp)	ACSS3 (N115D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302219	NM_024560.4(ACSS3):c.376G>A (p.Gly126Arg)	ACSS3 (G126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589091	NM_024560.4(ACSS3):c.406C>G (p.Pro136Ala)	ACSS3 (P136A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208191	NM_024560.4(ACSS3):c.464A>G (p.Lys155Arg)	ACSS3 (K154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391095	NM_024560.4(ACSS3):c.491G>A (p.Gly164Asp)	ACSS3 (G164D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270191	NM_024560.4(ACSS3):c.506A>T (p.Asp169Val)	ACSS3 (D168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141109	NM_024560.4(ACSS3):c.526C>T (p.Pro176Ser)	ACSS3 (P175S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517415	NM_024560.4(ACSS3):c.586A>G (p.Ser196Gly)	ACSS3 (S196G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268227	NM_024560.4(ACSS3):c.652G>A (p.Val218Met)	ACSS3 (V217M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549584	NM_024560.4(ACSS3):c.689G>A (p.Arg230Lys)	ACSS3 (R229K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141118	NM_024560.4(ACSS3):c.703G>A (p.Val235Ile)	ACSS3 (V234I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297680	NM_024560.4(ACSS3):c.755T>C (p.Ile252Thr)	ACSS3 (I251T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141125	NM_024560.4(ACSS3):c.767A>G (p.Asn256Ser)	ACSS3 (N255S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590042	NM_024560.4(ACSS3):c.785C>A (p.Ala262Glu)	ACSS3 (A261E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605315	NM_024560.4(ACSS3):c.805C>T (p.Arg269Cys)	ACSS3 (R268C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351355	NM_024560.4(ACSS3):c.850G>A (p.Asp284Asn)	ACSS3 (D284N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265465	NM_024560.4(ACSS3):c.876C>G (p.His292Gln)	ACSS3 (H291Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263476	NM_024560.4(ACSS3):c.886A>G (p.Ile296Val)	ACSS3 (I295V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2355594	NM_024560.4(ACSS3):c.944G>A (p.Gly315Glu)	ACSS3 (G315E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141148	NM_024560.4(ACSS3):c.949G>A (p.Ala317Thr)	ACSS3 (A316T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239816	NM_024560.4(ACSS3):c.970A>G (p.Met324Val)	ACSS3 (M323V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263474	NM_024560.4(ACSS3):c.980T>C (p.Ile327Thr)	ACSS3 (I326T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141045	NM_024560.4(ACSS3):c.1043A>C (p.His348Pro)	ACSS3 (H30P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263477	NM_024560.4(ACSS3):c.1129G>A (p.Ala377Thr)	ACSS3 (A376T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141049	NM_024560.4(ACSS3):c.1198A>G (p.Ile400Val)	ACSS3 (I82V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141052	NM_024560.4(ACSS3):c.1208A>C (p.Gln403Pro)	ACSS3 (Q403P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141056	NM_024560.4(ACSS3):c.1259C>T (p.Thr420Ile)	ACSS3 (T419I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229946	NM_024560.4(ACSS3):c.1303T>G (p.Trp435Gly)	ACSS3 (W117G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474617	NM_024560.4(ACSS3):c.1319T>C (p.Phe440Ser)	ACSS3 (F439S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474339	NM_024560.4(ACSS3):c.1328C>T (p.Pro443Leu)	ACSS3 (P443L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532452	NM_024560.4(ACSS3):c.1469A>G (p.Asn490Ser)	ACSS3 (N172S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610620	NM_024560.4(ACSS3):c.1472T>G (p.Met491Arg)	ACSS3 (M173R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395872	NM_024560.4(ACSS3):c.1708G>A (p.Ala570Thr)	ACSS3 (A569T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518581	NM_024560.4(ACSS3):c.1750T>A (p.Cys584Ser)	ACSS3 (C266S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263480	NM_024560.4(ACSS3):c.1771G>C (p.Asp591His)	ACSS3 (D590H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605784	NM_024560.4(ACSS3):c.1787A>G (p.His596Arg)	ACSS3 (H595R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508295	NM_024560.4(ACSS3):c.1853A>G (p.Glu618Gly)	ACSS3 (E618G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 815539	GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	OTOGL, ACSS3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 689025	GRCh37/hg19 12q21.31(chr12:81327644-82029969)x1	ACSS3, LIN7A +1 more	Copy number loss	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 685899	GRCh37/hg19 12q21.31(chr12:81643220-81734161)x1	ACSS3, PPFIA2	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221491	GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3	ACSS3, LIN7A +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61