ClinVar for Gene (Select 9560) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2647686	NM_207007.4(CCL4L1):c.208G>A (p.Gly70Ser)	CCL4L1, CCL4L2 (G70S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647685	NM_207007.4(CCL4L1):c.192-6C>G	CCL4L1, CCL4L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647684	NM_207007.4(CCL4L1):c.192-69G>C	CCL4L1, CCL4L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	LOC126862543, LOC126862544 +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2352114	NM_001291475.2(CCL4L2):c.*123G>A	CCL4L2 (V81M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1807768	GRCh37/hg19 17q12(chr17:34425363-36404555)x3	AATF, ACACA +23 more	Copy number gain	not provided	GPathogenic
Select item 1703619	GRCh37/hg19 17q12(chr17:34463923-36410559)	AATF, ACACA +22 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 997073	GRCh37/hg19 17q12(chr17:34437475-36243028)	AATF, ACACA +20 more	Copy number gain	Polyhydramnios +1 more	GPathogenic
Select item 980717	GRCh37/hg19 17q12(chr17:34405241-34823294)x1	CCL3, CCL3L1 +7 more	Copy number loss	not provided	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 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 564434	GRCh37/hg19 17q12(chr17:34477385-36404555)x1	AATF, ACACA +22 more	Copy number loss	not provided	GPathogenic
Select item 564433	GRCh37/hg19 17q12(chr17:34475679-36311009)x1	AATF, ACACA +21 more	Copy number loss	not provided	GPathogenic
Select item 564432	GRCh37/hg19 17q12(chr17:34426244-36225988)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 564431	GRCh37/hg19 17q12(chr17:34425362-36283612)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 443554	GRCh37/hg19 17q12(chr17:34437482-36404555)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 442610	GRCh37/hg19 17q12(chr17:34475679-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442573	GRCh37/hg19 17q12(chr17:34447113-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442359	GRCh37/hg19 17q12(chr17:34437482-36350584)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 209211	NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del	CCL4L1, CCL4L2 +26 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	TBC1D3F, TBC1D3G +39 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 150878	GRCh37/hg19 17q12(chr17:34431767-34775684)x3	CCL3L1, CCL3L3 +6 more	Copy number gain	See cases	GLikely benign
Select item 150667	GRCh38/hg38 17q12(chr17:36167804-36421711)x3	CCL3L3, CCL4L2 +4 more	Copy number gain	See cases	GLikely benign
Select item 150210	GRCh37/hg19 17q12(chr17:34431767-34611396)x3	CCL3L3, CCL4L2 +2 more	Copy number gain	See cases	GLikely benign
Select item 150171	GRCh37/hg19 17q12(chr17:34508117-34611396)x3	CCL3L3, CCL4L2 +2 more	Copy number gain	See cases	GLikely benign
Select item 149931	GRCh37/hg19 17q12(chr17:34526541-34611396)x3	CCL4L2, LOC124905374 +1 more	Copy number gain	See cases	GLikely benign
Select item 149439	GRCh38/hg38 17q12(chr17:36104374-36421711)x3	CCL3L3, CCL4 +5 more	Copy number gain	See cases	GLikely benign
Select item 147195	GRCh37/hg19 17q12(chr17:34437505-34611377)x1	CCL3L3, CCL4L2 +2 more	Copy number loss	See cases	GBenign
Select item 146939	GRCh37/hg19 17q12(chr17:34508117-34611388)x3	CCL3L3, CCL4L2 +2 more	Copy number gain	See cases	GBenign
Select item 144179	GRCh37/hg19 17q12(chr17:34450405-36248918)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	MIR2909, MIR378J +38 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 42