ClinVar for Gene (Select 6368) - ClinVar

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Links from Gene

Items: 27

	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 3139734	NM_005064.6(CCL23):c.392G>A (p.Arg131Gln)	CCL23 (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139733	NM_005064.6(CCL23):c.293C>T (p.Pro98Leu)	CCL23 (P98L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139732	NM_005064.6(CCL23):c.226A>G (p.Thr76Ala)	CCL23 (T59A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139731	NM_005064.6(CCL23):c.220T>A (p.Ser74Thr)	CCL23 (S57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139730	NM_005064.6(CCL23):c.208G>A (p.Asp70Asn)	CCL23 (D53N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139729	NM_005064.6(CCL23):c.180T>A (p.His60Gln)	CCL23 (H60Q)	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 2546995	NM_005064.6(CCL23):c.341C>T (p.Pro114Leu)	CCL23 (P97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509431	NM_005064.6(CCL23):c.242C>T (p.Pro81Leu)	CCL23 (P81L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467366	NM_005064.6(CCL23):c.88G>A (p.Glu30Lys)	CCL23 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404657	NM_005064.6(CCL23):c.382C>G (p.Leu128Val)	CCL23 (L111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389795	NM_005064.6(CCL23):c.138G>A (p.Met46Ile)	CCL23 (M46I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334403	NM_005064.6(CCL23):c.16G>A (p.Ala6Thr)	CCL23 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276239	NM_005064.6(CCL23):c.124G>A (p.Val42Ile)	CCL23 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236974	NM_005064.6(CCL23):c.277A>G (p.Ser93Gly)	CCL23 (S93G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226679	NM_005064.6(CCL23):c.220T>C (p.Ser74Pro)	CCL23 (S57P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207294	NM_005064.6(CCL23):c.323G>C (p.Arg108Pro)	CCL23 (R108P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204535	NM_005064.6(CCL23):c.233G>A (p.Arg78Gln)	CCL23 (R61Q +1 more)	Single nucleotide variant (missense variant)	not specified	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	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 92029	NM_005064.6(CCL23):c.232C>T (p.Arg78Ter)	CCL23 (R78* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27