13585[HGNC] - ClinVar

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Items: 71

	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 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 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 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
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 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 2412122	NM_018438.6(FBXO6):c.52G>A (p.Glu18Lys)	FBXO6 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609079	NM_018438.6(FBXO6):c.76A>G (p.Thr26Ala)	FBXO6 (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278211	NM_018438.6(FBXO6):c.78G>A (p.Thr26=)	FBXO6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3093801	NM_018438.6(FBXO6):c.88G>A (p.Ala30Thr)	FBXO6 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552396	NM_018438.6(FBXO6):c.138C>A (p.Asp46Glu)	FBXO6 (D46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401653	NM_018438.6(FBXO6):c.199G>A (p.Asp67Asn)	FBXO6 (D67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507716	NM_018438.6(FBXO6):c.214G>A (p.Val72Met)	FBXO6 (V72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333990	NM_018438.6(FBXO6):c.255T>A (p.His85Gln)	FBXO6 (H85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278210	NM_018438.6(FBXO6):c.259A>G (p.Asn87Asp)	FBXO6 (N87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787735	NM_018438.6(FBXO6):c.329G>A (p.Arg110His)	FBXO6 (R110H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2610221	NM_018438.6(FBXO6):c.485G>A (p.Arg162Gln)	FBXO6 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281600	NM_018438.6(FBXO6):c.485G>T (p.Arg162Leu)	FBXO6 (R162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093799	NM_018438.6(FBXO6):c.496G>A (p.Val166Met)	FBXO6 (V166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552086	NM_018438.6(FBXO6):c.577T>G (p.Phe193Val)	FBXO6 (F193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528049	NM_018438.6(FBXO6):c.628A>G (p.Asn210Asp)	FBXO6 (N210D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467659	NM_018438.6(FBXO6):c.673C>T (p.Arg225Trp)	FBXO6 (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302823	NM_018438.6(FBXO6):c.692T>C (p.Leu231Pro)	FBXO6 (L231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477632	NM_018438.6(FBXO6):c.711G>C (p.Arg237Ser)	FBXO6 (R237S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093800	NM_018438.6(FBXO6):c.766G>C (p.Val256Leu)	FBXO6 (V256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278209	NM_018438.6(FBXO6):c.773G>A (p.Ser258Asn)	FBXO6 (S258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787736	NM_018438.6(FBXO6):c.868G>A (p.Val290Ile)	FBXO6 (V290I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	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 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	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 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 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 830841	NC_000001.11:g.(?_11012634)_(11934865_?)del	AGTRAP, ANGPTL7 +19 more	Deletion	Atrial fibrillation, familial, 6	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	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 625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	AADACL3, AADACL4 +21 more	Copy number loss	not provided	GPathogenic
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
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 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 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: 71