CMAS[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ACAD10, ACADS +4836 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 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 2400959	NM_018686.6(CMAS):c.8C>T (p.Ser3Leu)	CMAS, LOC112163548 (S3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146200	NM_018686.6(CMAS):c.53G>T (p.Arg18Leu)	CMAS, LOC112163548 (R18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778585	NM_018686.6(CMAS):c.78G>A (p.Lys26=)	CMAS, LOC112163548	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3146198	NM_018686.6(CMAS):c.130C>T (p.His44Tyr)	CMAS, LOC112163548 (H44Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607823	NM_018686.6(CMAS):c.161G>A (p.Gly54Asp)	CMAS, LOC112163548 (G54D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642782	NM_018686.6(CMAS):c.249G>A (p.Gly83=)	CMAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2238479	NM_018686.6(CMAS):c.380T>C (p.Ile127Thr)	CMAS (I127T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146199	NM_018686.6(CMAS):c.481A>G (p.Ile161Val)	CMAS (I161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294344	NM_018686.6(CMAS):c.523C>T (p.Arg175Cys)	CMAS (R175C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146201	NM_018686.6(CMAS):c.673A>G (p.Ile225Val)	CMAS (I225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146202	NM_018686.6(CMAS):c.722G>A (p.Arg241Gln)	CMAS (R241Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267959	NM_018686.6(CMAS):c.734G>T (p.Ser245Ile)	CMAS (S245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611726	NM_018686.6(CMAS):c.743T>C (p.Ile248Thr)	CMAS (I248T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410255	NM_018686.6(CMAS):c.785T>C (p.Leu262Ser)	CMAS (L262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146203	NM_018686.6(CMAS):c.982G>C (p.Ala328Pro)	CMAS (A328P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267960	NM_018686.6(CMAS):c.1029G>A (p.Met343Ile)	CMAS (M343I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779520	NM_018686.6(CMAS):c.1114+7_1114+9dup	CMAS	Duplication (intron variant)	not provided	GBenign
Select item 2547493	NM_018686.6(CMAS):c.1166C>T (p.Ala389Val)	CMAS (A389V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600498	NM_018686.6(CMAS):c.1174G>A (p.Asp392Asn)	CMAS (D392N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271411	NM_018686.6(CMAS):c.1196A>G (p.Lys399Arg)	CMAS (K399R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790461	NM_018686.6(CMAS):c.1209C>T (p.Tyr403=)	CMAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	PTPRO, PYROXD1 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	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 979339	GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1	GYS2, KCNJ8 +11 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
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 685736	GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1	ABCC9, C2CD5 +16 more	Copy number loss	not provided	GUncertain significance
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	A2M, A2ML1 +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 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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395649	GRCh37/hg19 12p12.1(chr12:22208422-22235024)x3	CMAS	Copy number gain	See cases	GBenign
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 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: 57