ClinVar for Gene (Select 6349) - ClinVar

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Links from Gene

Items: 28

	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 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2509768	NM_021006.6(CCL3L1):c.193T>C (p.Phe65Leu)	CCL3L1 (F65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492483	NM_021006.6(CCL3L1):c.44T>C (p.Met15Thr)	CCL3L1 (M15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400237	NM_021006.6(CCL3L1):c.28G>A (p.Val10Ile)	CCL3L1 (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321898	NM_021006.6(CCL3L1):c.46G>A (p.Ala16Thr)	CCL3L1 (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 523265	GRCh37/hg19 17q12(chr17:34611352-36248918)	DDX52, DHRS11 +16 more	Copy number gain	Lower limb muscle weakness +2 more	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 150878	GRCh37/hg19 17q12(chr17:34431767-34775684)x3	CCL3L1, CCL3L3 +6 more	Copy number gain	See cases	GLikely benign
Select item 144179	GRCh37/hg19 17q12(chr17:34450405-36248918)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 32239	GRCh37/hg19 17q12(chr17:34611352-36248918)x3	ZNHIT3, AATF +16 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28