ClinVar for Gene (Select 570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063921	NM_001701.4(BAAT):c.134A>G (p.Tyr45Cys)	BAAT (Y45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3061529	NM_001701.4(BAAT):c.711A>G (p.Gly237=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition	GLikely benign
Select item 3061192	NM_001701.4(BAAT):c.453_454del (p.Phe152fs)	BAAT (F152fs)	Microsatellite (frameshift variant)	BAAT-related condition	GUncertain significance
Select item 3057787	NM_001701.4(BAAT):c.672C>T (p.Val224=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition	GLikely benign
Select item 3054964	NM_001701.4(BAAT):c.555C>G (p.Gly185=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition	GLikely benign
Select item 3053191	NM_001701.4(BAAT):c.564C>G (p.Ser188=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition	GLikely benign
Select item 3030550	NM_001701.4(BAAT):c.261A>T (p.Leu87=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition	GLikely benign
Select item 3030156	NM_001701.4(BAAT):c.759C>A (p.Ala253=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition	GLikely benign
Select item 2900639	NM_001701.4(BAAT):c.120C>T (p.Asn40=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779429	NM_001701.4(BAAT):c.1254C>T (p.Leu418=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683057	NM_001701.4(BAAT):c.457C>T (p.Leu153Phe)	BAAT (L153F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2635723	NM_001701.4(BAAT):c.601C>T (p.Arg201Cys)	BAAT (R201C)	Single nucleotide variant (missense variant)	BAAT-related condition	GUncertain significance
Select item 2554274	NM_001701.4(BAAT):c.136T>C (p.Ser46Pro)	BAAT (S46P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552859	NM_001701.4(BAAT):c.665C>A (p.Pro222Gln)	BAAT (P222Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552149	NM_001701.4(BAAT):c.1240G>A (p.Val414Met)	BAAT (V414M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485635	NM_001701.4(BAAT):c.53A>G (p.His18Arg)	BAAT (H18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478225	NM_001701.4(BAAT):c.1055G>C (p.Trp352Ser)	BAAT (W352S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422164	NC_000009.11:g.(?_104124710)_(104500261_?)del	ZNF189, ALDOB +6 more	Deletion	Hereditary fructosuria	GPathogenic
Select item 2398727	NM_001701.4(BAAT):c.947C>T (p.Ala316Val)	BAAT (A316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286475	NM_001701.4(BAAT):c.868T>A (p.Leu290Met)	BAAT (L290M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263489	NM_001701.4(BAAT):c.211A>T (p.Met71Leu)	BAAT (M71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249248	NM_001701.4(BAAT):c.436C>T (p.Arg146Cys)	BAAT (R146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245163	NM_001701.4(BAAT):c.412A>G (p.Thr138Ala)	BAAT (T138A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238686	NM_001701.4(BAAT):c.355G>A (p.Ala119Thr)	BAAT (A119T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2208699	NM_001701.4(BAAT):c.1126A>G (p.Thr376Ala)	BAAT (T376A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2101896	NM_001701.4(BAAT):c.867del (p.Leu290fs)	BAAT (L290fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1924027	NM_001701.4(BAAT):c.530G>A (p.Arg177Gln)	BAAT (R177Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898240	NM_001701.4(BAAT):c.1059C>T (p.Thr353=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 1266984	NM_001701.4(BAAT):c.669+64G>A	BAAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236339	NM_001701.4(BAAT):c.669+110G>T	BAAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1048535	NM_001701.4(BAAT):c.250C>A (p.Pro84Thr)	BAAT (P84T)	Single nucleotide variant (missense variant)	Bile acid conjugation defect 1	GPathogenic
Select item 1048534	NM_001701.4(BAAT):c.58C>T (p.Arg20Ter)	BAAT (R20*)	Single nucleotide variant (nonsense)	Bile acid conjugation defect 1	GPathogenic
Select item 1048533	NM_001701.4(BAAT):c.206A>T (p.Asp69Val)	BAAT (D69V)	Single nucleotide variant (missense variant)	Bile acid conjugation defect 1	GPathogenic
Select item 1048532	NM_001701.4(BAAT):c.1156G>A (p.Gly386Arg)	BAAT (G386R)	Single nucleotide variant (missense variant)	Bile acid conjugation defect 1	GPathogenic
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 979862	GRCh37/hg19 9q31.1(chr9:103872812-104974365)x3	GRIN3A, ALDOB +6 more	Copy number gain	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 915108	NM_001701.4(BAAT):c.558C>T (p.Phe186=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 915107	NM_001701.4(BAAT):c.561C>T (p.Ala187=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 915071	NM_001701.4(BAAT):c.*936T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 915070	NM_001701.4(BAAT):c.*1041A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913864	NM_001701.4(BAAT):c.1039C>T (p.His347Tyr)	BAAT (H347Y)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913863	NM_001701.4(BAAT):c.1134C>T (p.His378=)	BAAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 913862	NM_001701.4(BAAT):c.*95C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913814	NM_001701.4(BAAT):c.*1085C>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
Select item 913813	NM_001701.4(BAAT):c.*1130A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913812	NM_001701.4(BAAT):c.*1307T>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913811	NM_001701.4(BAAT):c.*1341A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913529	NM_001701.4(BAAT):c.-176C>T	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913528	NM_001701.4(BAAT):c.-92C>T	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913527	NM_001701.4(BAAT):c.17C>T (p.Ala6Val)	BAAT (A6V)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913526	NM_001701.4(BAAT):c.22C>G (p.Pro8Ala)	BAAT (P8A)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913487	NM_001701.4(BAAT):c.*224A>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913486	NM_001701.4(BAAT):c.*312A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
Select item 913485	NM_001701.4(BAAT):c.*365T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913484	NM_001701.4(BAAT):c.*426A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913483	NM_001701.4(BAAT):c.*538T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913434	NM_001701.4(BAAT):c.*1422A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913433	NM_001701.4(BAAT):c.*1528C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913432	NM_001701.4(BAAT):c.*1557C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913431	NM_001701.4(BAAT):c.*1597C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 913430	NM_001701.4(BAAT):c.*1617C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
Select item 912410	NM_001701.4(BAAT):c.126C>A (p.Asp42Glu)	BAAT (D42E)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912409	NM_001701.4(BAAT):c.147C>T (p.His49=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related condition +1 more	GConflicting classifications of pathogenicity
Select item 912408	NM_001701.4(BAAT):c.390G>T (p.Arg130Ser)	BAAT (R130S)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912354	NM_001701.4(BAAT):c.*573G>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912353	NM_001701.4(BAAT):c.*624T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
Select item 912352	NM_001701.4(BAAT):c.*660G>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912351	NM_001701.4(BAAT):c.*668A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912350	NM_001701.4(BAAT):c.*831A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912312	NM_001701.4(BAAT):c.*1712G>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912311	NM_001701.4(BAAT):c.*1828C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 912310	NM_001701.4(BAAT):c.*1864G>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 722065	NM_001701.4(BAAT):c.546C>T (p.Ala182=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 632531	NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter)	BAAT (E396*)	Single nucleotide variant (nonsense)	Hypercholanemia, familial 1	GUncertain significance
Select item 597957	NM_001701.4(BAAT):c.30T>C (p.Ser10=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 597580	NM_001701.4(BAAT):c.1135G>C (p.Asp379His)	BAAT (D379H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597407	NM_001701.4(BAAT):c.953G>A (p.Gly318Glu)	BAAT (G318E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596757	NM_001701.4(BAAT):c.160G>A (p.Glu54Lys)	BAAT (E54K)	Single nucleotide variant (missense variant)	BAAT-related condition +1 more	GUncertain significance
Select item 595901	NM_001701.4(BAAT):c.165C>T (p.Phe55=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 595831	NM_001701.4(BAAT):c.782A>G (p.Asn261Ser)	BAAT (N261S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595625	NM_001701.4(BAAT):c.121G>A (p.Gly41Arg)	BAAT (G41R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595353	NM_001701.4(BAAT):c.227T>C (p.Met76Thr)	BAAT (M76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595242	NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)	BAAT (P135A)	Single nucleotide variant (missense variant)	BAAT-related condition +1 more	GConflicting classifications of pathogenicity
Select item 595169	NM_001701.4(BAAT):c.762G>A (p.Thr254=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594759	NM_001701.4(BAAT):c.220C>T (p.His74Tyr)	BAAT (H74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593651	NM_001701.4(BAAT):c.685G>A (p.Val229Ile)	BAAT (V229I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 593558	NM_001701.4(BAAT):c.285T>G (p.Asp95Glu)	BAAT (D95E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593043	NM_001701.4(BAAT):c.992T>C (p.Ile331Thr)	BAAT (I331T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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