MACO1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59357	GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1	LOC122056798, LOC129388471 +12 more	Copy number loss	See cases	GUncertain significance
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +30 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 153081	GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3	LDLRAP1, LOC129388472 +10 more	Copy number gain	See cases	GBenign
Select item 3121904	NM_018202.6(MACO1):c.40C>A (p.Pro14Thr)	LOC129929769, MACO1 (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121906	NM_018202.6(MACO1):c.76G>T (p.Gly26Cys)	LOC129929769, MACO1 (G26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603942	NM_018202.6(MACO1):c.250G>A (p.Ala84Thr)	MACO1 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121903	NM_018202.6(MACO1):c.373G>A (p.Val125Met)	MACO1 (V125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519423	NM_018202.6(MACO1):c.520G>T (p.Val174Leu)	MACO1 (V174L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536563	NM_018202.6(MACO1):c.628A>C (p.Lys210Gln)	MACO1 (K210Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121905	NM_018202.6(MACO1):c.633A>C (p.Gln211His)	MACO1 (Q211H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619012	NM_018202.6(MACO1):c.667C>T (p.Pro223Ser)	MACO1 (P223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121907	NM_018202.6(MACO1):c.875A>G (p.His292Arg)	MACO1 (H292R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121908	NM_018202.6(MACO1):c.977G>C (p.Ser326Thr)	MACO1 (S326T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292504	NM_018202.6(MACO1):c.980G>T (p.Gly327Val)	MACO1 (G327V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121909	NM_018202.6(MACO1):c.989A>G (p.Asn330Ser)	MACO1 (N330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121898	NM_018202.6(MACO1):c.1042A>G (p.Ser348Gly)	MACO1 (S348G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610946	NM_018202.6(MACO1):c.1153A>G (p.Arg385Gly)	MACO1 (R385G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292506	NM_018202.6(MACO1):c.1155G>C (p.Arg385Ser)	MACO1 (R385S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292505	NM_018202.6(MACO1):c.1244C>T (p.Ser415Leu)	MACO1 (S188L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121899	NM_018202.6(MACO1):c.1286G>A (p.Arg429Gln)	MACO1 (R429Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121900	NM_018202.6(MACO1):c.1347C>G (p.Asp449Glu)	MACO1 (D449E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121901	NM_018202.6(MACO1):c.1558C>T (p.Leu520Phe)	MACO1 (L520F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121902	NM_018202.6(MACO1):c.1562C>A (p.Thr521Lys)	MACO1 (T294K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465060	NM_018202.6(MACO1):c.1605A>C (p.Glu535Asp)	MACO1 (E535D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603537	NM_018202.6(MACO1):c.1972G>A (p.Val658Ile)	MACO1 (V431I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 547150	GRCh37/hg19 1p36.11(chr1:25609449-25777511)x3	RHD, TMEM50A +2 more	Copy number gain	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 33