6347[geneid] - ClinVar

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Items: 23

	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 146705	GRCh38/hg38 17q12(chr17:33777728-34301601)x3	ASIC2, CCL11 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1050212	NC_000017.11:g.34251039C>A	CCL2	Single nucleotide variant	not provided	GUncertain significance
Select item 14207	NC_000017.11:g.34252769A>G	CCL2, LOC126862536	Single nucleotide variant	CCL2-related disorder +4 more	GConflicting classifications of pathogenicity; risk factor
Select item 14205	NC_000017.11:g.34253212=	CCL2	Single nucleotide variant	Susceptibility to HIV infection	Gprotective
Select item 14206	NM_002982.4(CCL2):c.77-109=	CCL2	Single nucleotide variant (intron variant)	Susceptibility to HIV infection	Gprotective
Select item 3059105	NM_002982.4(CCL2):c.105T>C (p.Cys35=)	CCL2	Single nucleotide variant (synonymous variant)	CCL2-related disorder	GBenign
Select item 3035468	NM_002982.4(CCL2):c.144C>T (p.Leu48=)	CCL2	Single nucleotide variant (synonymous variant)	CCL2-related disorder	GLikely benign
Select item 2458153	NM_002982.4(CCL2):c.146C>T (p.Ala49Val)	CCL2 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264470	NM_002982.4(CCL2):c.163A>T (p.Thr55Ser)	CCL2 (T55S)	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 441921	GRCh37/hg19 17q12(chr17:32064314-32643063)x3	ASIC2, CCL11 +2 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: 23