ClinVar for MedGen (Select 1781366) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693162	NM_020812.4(DOCK6):c.3895-48_3895-47del	DOCK6, DOCK6-AS1	Deletion (intron variant)	Hypercholanemia, familial 1	GLikely pathogenic
Select item 1281420	NM_004817.4(TJP2):c.1672-27del	TJP2	Deletion (intron variant)	Cholestasis, progressive familial intrahepatic, 4 +2 more	GBenign
Select item 1235422	NM_004817.4(TJP2):c.2180-34G>A	TJP2	Single nucleotide variant (intron variant)	Hypercholanemia, familial 1 +2 more	GBenign
Select item 1213131	NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)	TJP2 (G669E +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030845	NM_004817.4(TJP2):c.659G>T (p.Ser220Ile)	TJP2 (S224I +3 more)	Single nucleotide variant (missense 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 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)	Hypercholanemia, familial 1 +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 632531	NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter)	BAAT (E396*)	Single nucleotide variant (nonsense)	Hypercholanemia, familial 1	GUncertain significance
Select item 632045	NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)	TJP2 (R632* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GPathogenic
Select item 597158	NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)	TJP2 (A526S +4 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +2 more	GUncertain significance
Select item 561152	NM_001136018.4(EPHX1):c.823A>G (p.Thr275Ala)	EPHX1 (T275A +2 more)	Single nucleotide variant (missense variant +2 more)	Hypercholanemia, familial 1	GUncertain significance
Select item 502567	NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)	TJP2 (T1131M +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 499940	NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)	TJP2 (A544V +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +2 more	GUncertain significance
Select item 489223	NM_004817.4(TJP2):c.1056+2T>C	TJP2	Single nucleotide variant (splice donor variant)	TJP2-related disorder +3 more	GLikely pathogenic
Select item 367235	NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	TJP2 (T1124M +10 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 364286	NM_001701.4(BAAT):c.-208C>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 364284	NM_001701.4(BAAT):c.-116G>A	BAAT	Single nucleotide variant (5 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364283	NM_001701.4(BAAT):c.-59-14C>A	BAAT	Single nucleotide variant (intron variant)	Hypercholanemia, familial 1	GUncertain significance
Select item 364282	NM_001701.4(BAAT):c.178C>T (p.Leu60=)	BAAT	Single nucleotide variant (synonymous variant)	BAAT-related disorder +1 more	GConflicting classifications of pathogenicity
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 364280	NM_001701.4(BAAT):c.350A>G (p.Lys117Arg)	BAAT (K117R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 364278	NM_001701.4(BAAT):c.780C>T (p.Thr260=)	BAAT	Single nucleotide variant (synonymous variant)	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 364275	NM_001701.4(BAAT):c.*46G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 364274	NM_001701.4(BAAT):c.*160T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
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 364272	NM_001701.4(BAAT):c.*459G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
Select item 364271	NM_001701.4(BAAT):c.*589C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364270	NM_001701.4(BAAT):c.*611G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364268	NM_001701.4(BAAT):c.*895C>T	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 364266	NM_001701.4(BAAT):c.*955A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364265	NM_001701.4(BAAT):c.*1029A>T	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 364263	NM_001701.4(BAAT):c.*1041A>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364262	NM_001701.4(BAAT):c.*1090A>G	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
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 364260	NM_001701.4(BAAT):c.*1139T>G	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 364254	NM_001701.4(BAAT):c.*1458G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364253	NM_001701.4(BAAT):c.*1475G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
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 364251	NM_001701.4(BAAT):c.*1701G>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GLikely benign
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 364249	NM_001701.4(BAAT):c.*1884G>A	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 364248	NM_001701.4(BAAT):c.*1886T>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 364246	NM_001701.4(BAAT):c.*1998T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial 1	GBenign
Select item 289950	NM_001701.4(BAAT):c.997A>G (p.Ser333Gly)	BAAT (S333G)	Single nucleotide variant (missense variant)	BAAT-related disorder +3 more	GBenign/Likely benign
Select item 289878	NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)	TJP2 (A931T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 289597	NM_001701.4(BAAT):c.409G>A (p.Val137Ile)	BAAT (V137I)	Single nucleotide variant (missense variant)	BAAT-related disorder +3 more	GBenign/Likely benign
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 259554	NM_004817.4(TJP2):c.2992-19G>A	TJP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 258173	NM_001701.4(BAAT):c.602G>C (p.Arg201Pro)	BAAT (R201P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 197199	NM_001701.4(BAAT):c.951G>A (p.Gln317=)	BAAT	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial 1 +2 more	GBenign/Likely benign
Select item 196398	NM_004817.4(TJP2):c.239+19T>C	TJP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 180018	NM_004817.4(TJP2):c.3407+3A>G	TJP2	Single nucleotide variant (intron variant)	Hypercholanemia, familial 1 +2 more	GLikely benign
Select item 178813	NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)	TJP2 (I382del +3 more)	Deletion (inframe_deletion)	Nonsyndromic Hearing Loss, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 178543	NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	TJP2 (R397C +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 165427	NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)	TJP2 (R1016Q +10 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +2 more	GUncertain significance

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