6348[geneid] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 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 2591827	NM_002983.3(CCL3):c.203G>A (p.Arg68Gln)	CCL3, CCL3-AS1 (R68Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393178	NM_002983.3(CCL3):c.182G>T (p.Gly61Val)	CCL3, CCL3-AS1 (G61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139750	NM_002983.3(CCL3):c.158C>T (p.Thr53Met)	CCL3, CCL3-AS1 (T53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139749	NM_002983.3(CCL3):c.118C>T (p.Arg40Trp)	CCL3, CCL3-AS1 (R40W)	Single nucleotide variant (missense variant +1 more)	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 980717	GRCh37/hg19 17q12(chr17:34405241-34823294)x1	CCL3, CCL3L1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 815929	GRCh37/hg19 17q12(chr17:34158619-34477480)x4	CCL14, CCL15 +10 more	Copy number gain	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 685762	GRCh37/hg19 17q12(chr17:34151183-34477480)x3	CCL14, CCL15 +10 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 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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