BAAT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 364246	NM_001701.4(BAAT):c.*1998T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364247	NM_001701.4(BAAT):c.*1890C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364248	NM_001701.4(BAAT):c.*1886T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
Select item 364249	NM_001701.4(BAAT):c.*1884G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
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 912311	NM_001701.4(BAAT):c.*1828C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364250	NM_001701.4(BAAT):c.*1824C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
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 364251	NM_001701.4(BAAT):c.*1701G>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
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 913431	NM_001701.4(BAAT):c.*1597C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 364252	NM_001701.4(BAAT):c.*1575T>G	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 913433	NM_001701.4(BAAT):c.*1528C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364253	NM_001701.4(BAAT):c.*1475G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
Select item 364254	NM_001701.4(BAAT):c.*1458G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
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 913811	NM_001701.4(BAAT):c.*1341A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364255	NM_001701.4(BAAT):c.*1316A>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial	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 364256	NM_001701.4(BAAT):c.*1218A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364257	NM_001701.4(BAAT):c.*1205del	BAAT	Deletion (3 prime UTR variant)	Hypercholanemia, familial	GUncertain significance
Select item 364258	NM_001701.4(BAAT):c.*1173TA[1]	BAAT	Microsatellite (3 prime UTR variant)	Hypercholanemia, familial	GLikely benign
Select item 364259	NM_001701.4(BAAT):c.*1164C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial	GUncertain significance
Select item 364260	NM_001701.4(BAAT):c.*1139T>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364261	NM_001701.4(BAAT):c.*1136A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
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 364262	NM_001701.4(BAAT):c.*1090A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 915070	NM_001701.4(BAAT):c.*1041A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364263	NM_001701.4(BAAT):c.*1041A>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364264	NM_001701.4(BAAT):c.*1030T>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364265	NM_001701.4(BAAT):c.*1029A>T	BAAT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 364266	NM_001701.4(BAAT):c.*955A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364267	NM_001701.4(BAAT):c.*948C>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
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 364268	NM_001701.4(BAAT):c.*895C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
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 364269	NM_001701.4(BAAT):c.*787T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial	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 912352	NM_001701.4(BAAT):c.*660G>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 364270	NM_001701.4(BAAT):c.*611G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
Select item 364271	NM_001701.4(BAAT):c.*589C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +1 more	GBenign
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 913483	NM_001701.4(BAAT):c.*538T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364272	NM_001701.4(BAAT):c.*459G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
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 913485	NM_001701.4(BAAT):c.*365T>C	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 913487	NM_001701.4(BAAT):c.*224A>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364273	NM_001701.4(BAAT):c.*199A>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364274	NM_001701.4(BAAT):c.*160T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +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 364275	NM_001701.4(BAAT):c.*46G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1 +2 more	GBenign
Select item 2779429	NM_001701.4(BAAT):c.1254C>T (p.Leu418=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552149	NM_001701.4(BAAT):c.1240G>A (p.Val414Met)	BAAT (V414M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132739	NM_001701.4(BAAT):c.1205T>A (p.Ile402Asn)	BAAT (I402N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 290381	NM_001701.4(BAAT):c.1173C>T (p.His391=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 597580	NM_001701.4(BAAT):c.1135G>C (p.Asp379His)	BAAT (D379H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364276	NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn)	BAAT (D379N)	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 197200	NM_001701.4(BAAT):c.1127C>T (p.Thr376Met)	BAAT (T376M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2208699	NM_001701.4(BAAT):c.1126A>G (p.Thr376Ala)	BAAT (T376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 290372	NM_001701.4(BAAT):c.1120G>A (p.Ala374Thr)	BAAT (A374T)	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 500562	NM_001701.4(BAAT):c.1056G>A (p.Trp352Ter)	BAAT (W352*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2478225	NM_001701.4(BAAT):c.1055G>C (p.Trp352Ser)	BAAT (W352S)	Single nucleotide variant (missense variant)	not specified	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 3259635	NM_001701.4(BAAT):c.1030C>A (p.Leu344Met)	BAAT (L344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 500960	NM_001701.4(BAAT):c.1009G>A (p.Ala337Thr)	BAAT (A337T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498672	NM_001701.4(BAAT):c.1008C>T (p.His336=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 289950	NM_001701.4(BAAT):c.997A>G (p.Ser333Gly)	BAAT (S333G)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +2 more	GBenign/Likely benign
Select item 593043	NM_001701.4(BAAT):c.992T>C (p.Ile331Thr)	BAAT (I331T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21301	NM_001701.4(BAAT):c.967A>G (p.Ile323Val)	BAAT (I323V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Gnot provided
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 197199	NM_001701.4(BAAT):c.951G>A (p.Gln317=)	BAAT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2398727	NM_001701.4(BAAT):c.947C>T (p.Ala316Val)	BAAT (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 258174	NM_001701.4(BAAT):c.911T>C (p.Val304Ala)	BAAT (V304A)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +2 more	GBenign
Select item 501472	NM_001701.4(BAAT):c.903A>T (p.Thr301=)	BAAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2286475	NM_001701.4(BAAT):c.868T>A (p.Leu290Met)	BAAT (L290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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