ClinVar for Gene (Select 6359) - ClinVar - NCBI

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Links from Gene

Items: 17

	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 3139713	NM_032965.6(CCL15):c.98T>C (p.Met33Thr)	CCL15, CCL15-CCL14 (M33T)	Single nucleotide variant (non-coding transcript 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 2335190	NM_032965.6(CCL15):c.337A>G (p.Ile113Val)	CCL15, CCL15-CCL14 (I113V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327723	NM_032965.6(CCL15):c.13G>A (p.Val5Met)	CCL15, CCL15-CCL14 (V5M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2324454	NM_032965.6(CCL15):c.316A>C (p.Lys106Gln)	CCL15, CCL15-CCL14 (K106Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318233	NM_032965.6(CCL15):c.268C>T (p.Arg90Trp)	CCL15, CCL15-CCL14 (R90W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2295803	NM_032965.6(CCL15):c.338T>C (p.Ile113Thr)	CCL15, CCL15-CCL14 (I113T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254496	NM_032965.6(CCL15):c.203A>G (p.Lys68Arg)	CCL15, CCL15-CCL14 (K68R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250969	NM_032965.6(CCL15):c.269G>A (p.Arg90Gln)	CCL15, CCL15-CCL14 (R90Q)	Single nucleotide variant (non-coding transcript variant +1 more)	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 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic