6928[geneid] - ClinVar - NCBI

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	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 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	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 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 155596	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 154005	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153885	GRCh37/hg19 17q12(chr17:34822466-36316161)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153855	GRCh37/hg19 17q12(chr17:34822466-36283612)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153818	GRCh37/hg19 17q12(chr17:34822465-36350005)x3	AATF, ACACA +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 153746	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153717	GRCh37/hg19 17q12(chr17:34822466-36393628)x1	AATF, ACACA +31 more	Copy number loss	See cases	GPathogenic
Select item 152579	GRCh37/hg19 17q12(chr17:34856055-36248859)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 148852	GRCh37/hg19 17q12(chr17:34817422-36188700)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60477	GRCh37/hg19 17q12(chr17:34899836-36224189)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60474	GRCh37/hg19 17q12(chr17:34851537-36173763)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 60472	GRCh37/hg19 17q12(chr17:34817422-36168104)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 58169	GRCh37/hg19 17q12(chr17:34817422-36173763)x3	AATF, ACACA +28 more	Copy number gain	See cases	GPathogenic
Select item 58168	GRCh37/hg19 17q12(chr17:34815184-36209228)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 57515	GRCh37/hg19 17q12(chr17:34899836-36177728)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 144685	GRCh37/hg19 17q12(chr17:35076189-36248926)x1	AATF, ACACA +25 more	Copy number loss	See cases	GPathogenic
Select item 58695	GRCh37/hg19 17q12(chr17:35958761-36224189)x3	DDX52, HNF1B +7 more	Copy number gain	See cases	GPathogenic
Select item 153916	GRCh37/hg19 17q12(chr17:36059104-36244358)x3	HNF1B, LOC112529910 +2 more	Copy number gain	See cases	GLikely benign
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	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 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	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 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	AATF, ACACA +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	AATF, ACACA +25 more	Copy number loss	Diaphragmatic eventration	GUncertain significance
Select item 322926	NM_000458.4(HNF1B):c.*938A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 322927	NM_000458.4(HNF1B):c.*924C>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322928	NM_000458.4(HNF1B):c.*804T>C	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign/Likely benign
Select item 322929	NM_000458.4(HNF1B):c.*789T>C	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 322930	NM_000458.4(HNF1B):c.*777G>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +2 more	GBenign/Likely benign
Select item 322931	NM_000458.4(HNF1B):c.*701G>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 322932	NM_000458.4(HNF1B):c.*691A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 322933	NM_000458.4(HNF1B):c.*683G>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 892033	NM_000458.4(HNF1B):c.*659G>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign/Likely benign
Select item 892034	NM_000458.4(HNF1B):c.*629C>T	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 892035	NM_000458.4(HNF1B):c.*625C>T	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 322934	NM_000458.4(HNF1B):c.*585T>C	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 322935	NM_000458.4(HNF1B):c.*445A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 322936	NM_000458.4(HNF1B):c.*444=	HNF1B	Single nucleotide variant (no sequence alteration)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 1802164	NM_000458.4(HNF1B):c.*409A>C	HNF1B	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 888570	NM_000458.4(HNF1B):c.*409A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 322937	NM_000458.4(HNF1B):c.*403A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322938	NM_000458.4(HNF1B):c.*384A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +2 more	GBenign
Select item 322939	NM_000458.4(HNF1B):c.*274=	HNF1B	Single nucleotide variant (no sequence alteration)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 3063725	NM_000458.4(HNF1B):c.*111G>C	HNF1B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3024553	NM_000458.4(HNF1B):c.*100del	HNF1B	Deletion (3 prime UTR variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 322940	NM_000458.4(HNF1B):c.*100=	HNF1B	Single nucleotide variant (no sequence alteration)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322941	NM_000458.4(HNF1B):c.*99C>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322942	NM_000458.4(HNF1B):c.*88A>G	HNF1B (Q457R)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal cysts and diabetes syndrome +1 more	GLikely benign
Select item 2631463	NM_000458.4(HNF1B):c.*67G>A	HNF1B (G450D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GUncertain significance
Select item 3045344	NM_000458.4(HNF1B):c.*56T>C	HNF1B	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GLikely benign
Select item 322943	NM_000458.4(HNF1B):c.*47T>G	HNF1B (F443L)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal cysts and diabetes syndrome +2 more	GBenign
Select item 438661	NM_000458.4(HNF1B):c.*37G>A	HNF1B (G440E)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1297600	NM_000458.4(HNF1B):c.*22G>A	HNF1B (R435H)	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3061308	NM_000458.4(HNF1B):c.*18C>T	HNF1B (L434F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GUncertain significance
Select item 499805	NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)	HNF1B (L426M)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290378	NM_000458.4(HNF1B):c.1663C>A (p.Gln555Lys)	HNF1B (Q555K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 499802	NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)	HNF1B (P553T +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 1448572	NM_000458.4(HNF1B):c.1655G>A (p.Cys552Tyr)	HNF1B (C552Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635574	NM_000458.4(HNF1B):c.1654-2A>T	HNF1B	Single nucleotide variant (splice acceptor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 2732577	NM_000458.4(HNF1B):c.1654-14CT[6]	HNF1B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 36844	NM_000458.4(HNF1B):c.1654-4G>A	HNF1B	Single nucleotide variant (intron variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 322944	NM_000458.4(HNF1B):c.1654-14CT[4]	HNF1B	Microsatellite (intron variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3035602	NM_000458.4(HNF1B):c.1654-9del	HNF1B	Deletion (intron variant)	HNF1B-related disorder	GLikely benign
Select item 593924	NM_000458.4(HNF1B):c.1654-9T>A	HNF1B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36842	NM_000458.4(HNF1B):c.1654-11_1654-9delinsC	HNF1B	Indel (intron variant)	Renal cysts and diabetes syndrome +2 more	GUncertain significance
Select item 2828541	NM_000458.4(HNF1B):c.1654-14_1654-10del	HNF1B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 890273	NM_000458.4(HNF1B):c.1654-11T>C	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 2197991	NM_000458.4(HNF1B):c.1654-16T>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36843	NM_000458.4(HNF1B):c.1654-22=	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 676394	NM_000458.4(HNF1B):c.1654-106C>T	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 1296943	NM_000458.4(HNF1B):c.1653+268C>T	HNF1B, LOC126862547	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292698	NM_000458.4(HNF1B):c.1653+164del	HNF1B, LOC126862547	Deletion (intron variant)	not provided	GBenign
Select item 1181903	NM_000458.4(HNF1B):c.1653+102G>A	HNF1B, LOC126862547	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225876	NM_000458.4(HNF1B):c.1653+89G>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292623	NM_000458.4(HNF1B):c.1653+47_1653+48insC	HNF1B	Insertion (intron variant)	not provided	GBenign
Select item 2741462	NM_000458.4(HNF1B):c.1653+20C>T	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 635575	NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)	HNF1B (S547F +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GLikely pathogenic

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