1712[HGNC] - ClinVar

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Items: 26

	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 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 3140732	NM_001785.3(CDA):c.116G>C (p.Gly39Ala)	CDA (G39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784935	NM_001785.3(CDA):c.183G>A (p.Pro61=)	CDA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737822	NM_001785.3(CDA):c.210T>C (p.Ala70=)	CDA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589304	NM_001785.3(CDA):c.259A>C (p.Ile87Leu)	CDA (I87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391428	NM_001785.3(CDA):c.286A>G (p.Ile96Val)	CDA (I96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140733	NM_001785.3(CDA):c.351G>A (p.Met117Ile)	CDA (M117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323803	NM_001785.3(CDA):c.359C>T (p.Pro120Leu)	CDA (P120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408531	NM_001785.3(CDA):c.368C>T (p.Thr123Met)	CDA (T123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264914	NM_001785.3(CDA):c.383C>T (p.Thr128Met)	CDA (T128M)	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 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
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 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 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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 26