ACSM4[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	LOC130007176, LOC130007283 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
Select item 2353333	NM_001080454.2(ACSM4):c.16C>T (p.Arg6Cys)	ACSM4 (R6C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140620	NM_001080454.2(ACSM4):c.53C>T (p.Pro18Leu)	ACSM4 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332951	NM_001080454.2(ACSM4):c.64C>T (p.Arg22Cys)	ACSM4 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140630	NM_001080454.2(ACSM4):c.65G>A (p.Arg22His)	ACSM4 (R22H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140653	NM_001080454.2(ACSM4):c.95C>T (p.Pro32Leu)	ACSM4 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482965	NM_001080454.2(ACSM4):c.141A>G (p.Pro47=)	ACSM4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2475451	NM_001080454.2(ACSM4):c.148A>G (p.Lys50Glu)	ACSM4 (K50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140600	NM_001080454.2(ACSM4):c.265T>C (p.Trp89Arg)	ACSM4 (W89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263260	NM_001080454.2(ACSM4):c.284G>A (p.Gly95Asp)	ACSM4 (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482955	NM_001080454.2(ACSM4):c.310G>C (p.Val104Leu)	ACSM4 (V104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482873	NM_001080454.2(ACSM4):c.310G>A (p.Val104Met)	ACSM4 (V104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482896	NM_001080454.2(ACSM4):c.353C>T (p.Ala118Val)	ACSM4 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140605	NM_001080454.2(ACSM4):c.364C>T (p.Pro122Ser)	ACSM4 (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328739	NM_001080454.2(ACSM4):c.395T>C (p.Val132Ala)	ACSM4 (V132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359799	NM_001080454.2(ACSM4):c.407G>A (p.Arg136Gln)	ACSM4 (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548080	NM_001080454.2(ACSM4):c.421T>A (p.Phe141Ile)	ACSM4 (F141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482884	NM_001080454.2(ACSM4):c.467G>A (p.Arg156Gln)	ACSM4 (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220782	NM_001080454.2(ACSM4):c.529T>C (p.Ser177Pro)	ACSM4 (S177P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322079	NM_001080454.2(ACSM4):c.533T>G (p.Ile178Ser)	ACSM4 (I178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140621	NM_001080454.2(ACSM4):c.554T>A (p.Leu185His)	ACSM4 (L185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252737	NM_001080454.2(ACSM4):c.571G>A (p.Val191Met)	ACSM4 (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140634	NM_001080454.2(ACSM4):c.667C>T (p.Pro223Ser)	ACSM4, LOC126861434 (P223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263238	NM_001080454.2(ACSM4):c.690T>A (p.Ser230Arg)	ACSM4, LOC126861434 (S230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229674	NM_001080454.2(ACSM4):c.692G>T (p.Gly231Val)	ACSM4, LOC126861434 (G231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331642	NM_001080454.2(ACSM4):c.743T>C (p.Ile248Thr)	ACSM4, LOC126861434 (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140643	NM_001080454.2(ACSM4):c.748T>C (p.Phe250Leu)	ACSM4, LOC126861434 (F250L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140649	NM_001080454.2(ACSM4):c.760G>A (p.Gly254Arg)	ACSM4, LOC126861434 (G254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216545	NM_001080454.2(ACSM4):c.815C>T (p.Thr272Met)	ACSM4 (T272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409250	NM_001080454.2(ACSM4):c.961C>A (p.Pro321Thr)	ACSM4, CD163L1 (P321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482936	NM_001080454.2(ACSM4):c.964A>C (p.Thr322Pro)	ACSM4, CD163L1 (T322P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482906	NM_001080454.2(ACSM4):c.1169G>A (p.Gly390Asp)	ACSM4, CD163L1 (G390D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263249	NM_001080454.2(ACSM4):c.1217A>G (p.Glu406Gly)	ACSM4, CD163L1 (E406G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482945	NM_001080454.2(ACSM4):c.1311C>G (p.Asp437Glu)	ACSM4, CD163L1 +1 more (D437E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140588	NM_001080454.2(ACSM4):c.1403T>A (p.Val468Asp)	ACSM4, CD163L1 +1 more (V468D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482925	NM_001080454.2(ACSM4):c.1450C>T (p.Pro484Ser)	ACSM4, CD163L1 +1 more (P484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3482917	NM_001080454.2(ACSM4):c.1475T>C (p.Ile492Thr)	ACSM4, CD163L1 +1 more (I492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352039	NM_001080454.2(ACSM4):c.1528C>T (p.Arg510Cys)	ACSM4, CD163L1 +1 more (R510C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268669	NM_001080454.2(ACSM4):c.1595T>C (p.Leu532Ser)	ACSM4, CD163L1 (L532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211725	NM_001080454.2(ACSM4):c.1705C>T (p.Arg569Cys)	ACSM4, CD163L1 (R569C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391851	GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	PHC1, PIANP +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688764	GRCh37/hg19 12p13.31(chr12:7162134-7605102)x3	ACSM4, C1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	SLCO1B1, SMCO3 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
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 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 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 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 89