ClinVar for Gene (Select 6352) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3139752	NM_002985.3(CCL5):c.88A>G (p.Thr30Ala)	CCL5 (T30A)	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 2380266	NM_002985.3(CCL5):c.119G>A (p.Arg40His)	CCL5 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379782	NM_002985.3(CCL5):c.14C>T (p.Ala5Val)	CCL5 (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	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 395394	GRCh37/hg19 17q12(chr17:34205640-34245061)x3	CCL5	Copy number gain	See cases	GBenign
Select item 12740	NM_002985.3(CCL5):c.76+231T>C	CCL5	Single nucleotide variant (intron variant)	Human immunodeficiency virus type 1, rapid disease progression with infection by	GPathogenic
Select item 12739	NC_000017.11:g.35880401G>C	CCL5	Single nucleotide variant	Human immunodeficiency virus type 1, delayed disease progression with infection by	GPathogenic