ClinVar for Gene (Select 55219) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3121906	NM_018202.6(MACO1):c.76G>T (p.Gly26Cys)	LOC129929769, MACO1 (G26C)	Single nucleotide variant (missense variant)	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 3121904	NM_018202.6(MACO1):c.40C>A (p.Pro14Thr)	LOC129929769, MACO1 (P14T)	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 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 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 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 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 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 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
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 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 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 2603942	NM_018202.6(MACO1):c.250G>A (p.Ala84Thr)	MACO1 (A84T)	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 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 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 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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +30 more	Duplication	9q34 microduplication syndrome	GLikely benign
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
Select item 153081	GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3	LDLRAP1, LOC129388472 +10 more	Copy number gain	See cases	GBenign
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 33