ClinVar for Gene (Select 84218) - ClinVar

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Links from Gene

Items: 58

	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 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
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 2647690	NM_032258.5(TBC1D3F):c.1196G>A (p.Arg399Gln)	TBC1D3F, TBC1D3G (R399Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647689	NM_032258.5(TBC1D3F):c.1439T>C (p.Val480Ala)	TBC1D3F, TBC1D3G (V480A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647688	NM_032258.5(TBC1D3F):c.1451C>A (p.Ser484Tyr)	TBC1D3F, TBC1D3G (S484Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647687	NM_032258.5(TBC1D3F):c.1518C>T (p.Phe506=)	TBC1D3F, TBC1D3G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorder	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2342667	NM_032258.5(TBC1D3F):c.1008G>T (p.Glu336Asp)	TBC1D3F (E336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808648	GRCh37/hg19 17q12(chr17:34822466-36404136)x1	AATF, ACACA +15 more	Copy number loss	not provided	GPathogenic
Select item 1807768	GRCh37/hg19 17q12(chr17:34425363-36404555)x3	AATF, ACACA +23 more	Copy number gain	not provided	GPathogenic
Select item 1703620	GRCh37/hg19 17q12(chr17:34822465-36410559)	AATF, ACACA +15 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1703619	GRCh37/hg19 17q12(chr17:34463923-36410559)	AATF, ACACA +22 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1330160	GRCh37/hg19 17q12(chr17:34807069-36284994)x1	AATF, ACACA +14 more	Copy number loss	Chromosome 17q12 deletion syndrome	GLikely pathogenic
Select item 980158	GRCh37/hg19 17q12(chr17:34822465-36410559)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 973602	GRCh37/hg19 17q12(chr17:36473175-36567469)x3	ARHGAP23, GPR179 +4 more	Copy number gain	Microcephaly +1 more	GUncertain significance
Select item 815932	GRCh37/hg19 17q12(chr17:36067413-36410559)x3	TBC1D3F, HNF1B +1 more	Copy number gain	not provided	GLikely pathogenic
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 564443	GRCh37/hg19 17q12(chr17:34822465-36404136)x1	AATF, ACACA +15 more	Copy number loss	not provided	GPathogenic
Select item 564442	GRCh37/hg19 17q12(chr17:34822465-36371146)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 564441	GRCh37/hg19 17q12(chr17:34822465-36351919)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 564440	GRCh37/hg19 17q12(chr17:34822465-36316161)x3	AATF, ACACA +14 more	Copy number gain	not provided	GPathogenic
Select item 564439	GRCh37/hg19 17q12(chr17:34822465-36307773)x1	AATF, ACACA +14 more	Copy number loss	not provided	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 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 443554	GRCh37/hg19 17q12(chr17:34437482-36404555)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 443354	GRCh37/hg19 17q12(chr17:34822465-36316161)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442652	GRCh37/hg19 17q12(chr17:34822465-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442521	GRCh37/hg19 17q12(chr17:34822466-36351934)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 442359	GRCh37/hg19 17q12(chr17:34437482-36350584)x3	CCL3L1, AATF +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 442284	GRCh37/hg19 17q12(chr17:34822466-36404136)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 442084	GRCh37/hg19 17q12(chr17:34822467-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442014	GRCh37/hg19 17q12(chr17:34822465-36300630)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442009	GRCh37/hg19 17q12(chr17:34822465-36316144)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 441912	GRCh37/hg19 17q12(chr17:34822465-36397323)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 441910	GRCh37/hg19 17q12(chr17:34822465-36410559)x3	AATF, ACACA +15 more	Copy number gain	See cases	GLikely pathogenic
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 441643	GRCh37/hg19 17q12(chr17:34822466-36300466)x1	AATF, ACACA +14 more	Copy number loss	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 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 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 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58