CCL24[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	ABHD11, ABHD11-AS1 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 58896	GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1	CCL24, CCL26 +25 more	Copy number loss	See cases	GUncertain significance
Select item 3139736	NM_002991.3(CCL24):c.233A>G (p.Lys78Arg)	CCL24 (K78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139735	NM_002991.3(CCL24):c.137G>T (p.Arg46Leu)	CCL24 (R46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488574	NM_002991.3(CCL24):c.31C>T (p.Leu11Phe)	CCL24 (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2684489	GRCh37/hg19 7q11.23(chr7:75148973-75591416)x3	CCL24, CCL26 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808137	GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3	SRRM3, YWHAG +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807990	GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3	CCL24, CCL26 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807835	GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1	CCL24, CCL26 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688947	GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3	CCL24, CCL26 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688612	GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3	CCL24, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687818	GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1	CCL24, CCL26 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563386	GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1	POR, YWHAG +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 563385	GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3	SRRM3, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443046	GRCh37/hg19 7q11.23(chr7:75155154-75729363)x1	CCL24, CCL26 +6 more	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441923	GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	ABHD11, ABHD11-AS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 42