ClinVar for Gene (Select 4237) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294493	NM_002403.4(MFAP2):c.122A>G (p.Gln41Arg)	MFAP2 (Q41R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3125646	NM_002403.4(MFAP2):c.383G>A (p.Arg128His)	MFAP2 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125645	NM_002403.4(MFAP2):c.167G>C (p.Arg56Pro)	MFAP2 (R55P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
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 2638387	NM_002403.4(MFAP2):c.521C>G (p.Ala174Gly)	MFAP2 (A173G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2462972	NM_002403.4(MFAP2):c.380G>A (p.Arg127His)	MFAP2 (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2339487	NM_002403.4(MFAP2):c.239C>T (p.Pro80Leu)	MFAP2 (P79L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337389	NM_002403.4(MFAP2):c.278G>A (p.Gly93Glu)	MFAP2 (G92E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316680	NM_002403.4(MFAP2):c.331C>T (p.His111Tyr)	MFAP2 (H110Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254275	NM_002403.4(MFAP2):c.236C>T (p.Thr79Ile)	MFAP2 (T78I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233231	NM_002403.4(MFAP2):c.64G>A (p.Asp22Asn)	MFAP2 (D22N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218266	NM_002403.4(MFAP2):c.407T>G (p.Ile136Ser)	MFAP2 (I135S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1341268	GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1	ATP13A2, CROCC +8 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 688628	GRCh37/hg19 1p36.13(chr1:17298230-17542448)x3	ATP13A2, CROCC +4 more	Copy number gain	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 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	not provided	GUncertain significance
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 221373	GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1	ATP13A2, CROCC +9 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35