CCL8[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60139	GRCh38/hg38 17q12(chr17:33642695-34549211)x3	ASIC2, CCL1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 150096	GRCh38/hg38 17q12(chr17:33671097-34595982)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 151580	GRCh38/hg38 17q12(chr17:33671106-34595887)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 714731	NM_005623.3(CCL8):c.22C>T (p.Leu8=)	CCL8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761573	NM_005623.3(CCL8):c.24G>C (p.Leu8=)	CCL8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714732	NM_005623.3(CCL8):c.41C>T (p.Ala14Val)	CCL8 (A14V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2396591	NM_005623.3(CCL8):c.44C>T (p.Ala15Val)	CCL8 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370879	NM_005623.3(CCL8):c.56C>T (p.Pro19Leu)	CCL8 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264479	NM_005623.3(CCL8):c.62G>A (p.Gly21Glu)	CCL8 (G21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264481	NM_005623.3(CCL8):c.73C>A (p.Pro25Thr)	CCL8 (P25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731252	NM_005623.3(CCL8):c.87C>T (p.Ser29=)	CCL8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2341135	NM_005623.3(CCL8):c.88A>T (p.Ile30Phe)	CCL8 (I30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139754	NM_005623.3(CCL8):c.91C>G (p.Pro31Ala)	CCL8 (P31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780421	NM_005623.3(CCL8):c.171C>A (p.Ile57=)	CCL8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3264480	NM_005623.3(CCL8):c.190G>A (p.Val64Met)	CCL8 (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718461	NM_005623.3(CCL8):c.195-8C>T	CCL8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3139753	NM_005623.3(CCL8):c.232C>T (p.Pro78Ser)	CCL8 (P78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526576	GRCh37/hg19 17q12(chr17:31959226-32937658)	ASIC2, CCL1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685761	GRCh37/hg19 17q12(chr17:31957257-32944153)x3	ASIC2, CCL1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 442056	GRCh37/hg19 17q12(chr17:31958240-32937658)x3	ASIC2, CCL1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394456	GRCh37/hg19 17q12(chr17:31982779-32917705)x3	ASIC2, CCL1 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 27