ClinVar for Gene (Select 6346) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2511354	NM_002981.2(CCL1):c.281A>G (p.Lys94Arg)	CCL1 (K94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230021	NM_002981.2(CCL1):c.194A>G (p.Lys65Arg)	CCL1 (K65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 564430	GRCh37/hg19 17q12(chr17:32654402-33353332)x3	CCL1, CCL13 +6 more	Copy number gain	not provided	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
Select item 151580	GRCh38/hg38 17q12(chr17:33671106-34595887)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 150096	GRCh38/hg38 17q12(chr17:33671097-34595982)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 60139	GRCh38/hg38 17q12(chr17:33642695-34549211)x3	ASIC2, CCL1 +22 more	Copy number gain	See cases	GUncertain significance