"Illumina Laboratory Services, Illumina"[submitter] AND "BAAT"[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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)	Hypercholanemia, familial 1	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	GBenign
Select item 364254	NM_001701.4(BAAT):c.*1458G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	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)	Hypercholanemia, familial 1	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)	Hypercholanemia, familial 1	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	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	GBenign
Select item 364271	NM_001701.4(BAAT):c.*589C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	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	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)	not provided +2 more	GBenign
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 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 913864	NM_001701.4(BAAT):c.1039C>T (p.His347Tyr)	BAAT (H347Y)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 289950	NM_001701.4(BAAT):c.997A>G (p.Ser333Gly)	BAAT (S333G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 258174	NM_001701.4(BAAT):c.911T>C (p.Val304Ala)	BAAT (V304A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 284049	NM_001701.4(BAAT):c.843T>G (p.Ser281=)	BAAT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 364277	NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)	BAAT (I266T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364278	NM_001701.4(BAAT):c.780C>T (p.Thr260=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 191236	NM_001701.4(BAAT):c.761C>T (p.Thr254Met)	BAAT (T254M)	Single nucleotide variant (missense variant)	Bile acid conjugation defect 1 +2 more	GConflicting classifications of pathogenicity
Select item 258173	NM_001701.4(BAAT):c.602G>C (p.Arg201Pro)	BAAT (R201P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 915108	NM_001701.4(BAAT):c.558C>T (p.Phe186=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364279	NM_001701.4(BAAT):c.473G>T (p.Gly158Val)	BAAT (G158V)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 289597	NM_001701.4(BAAT):c.409G>A (p.Val137Ile)	BAAT (V137I)	Single nucleotide variant (missense variant)	BAAT-related condition +3 more	GBenign/Likely benign
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 364280	NM_001701.4(BAAT):c.350A>G (p.Lys117Arg)	BAAT (K117R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 364281	NM_001701.4(BAAT):c.264A>G (p.Leu88=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364282	NM_001701.4(BAAT):c.178C>T (p.Leu60=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1 +1 more	GConflicting classifications of pathogenicity
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 912410	NM_001701.4(BAAT):c.126C>A (p.Asp42Glu)	BAAT (D42E)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 257518	NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)	BAAT (R20Q)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +3 more	GBenign
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 913527	NM_001701.4(BAAT):c.17C>T (p.Ala6Val)	BAAT (A6V)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364283	NM_001701.4(BAAT):c.-59-14C>A	BAAT	Single nucleotide variant (intron 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 364284	NM_001701.4(BAAT):c.-116G>A	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GBenign
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 364285	NM_001701.4(BAAT):c.-183T>A	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364286	NM_001701.4(BAAT):c.-208C>T	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364287	NM_001701.4(BAAT):c.-209C>T	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic

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Items: 88