ClinVar for Gene (Select 1581) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379821	NM_000780.4(CYP7A1):c.1126G>A (p.Asp376Asn)	CYP7A1, LOC126860400 (D376N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356744	NM_000780.4(CYP7A1):c.338G>C (p.Ser113Thr)	CYP7A1 (S113T)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3355517	NM_000780.4(CYP7A1):c.321+2T>C	CYP7A1	Single nucleotide variant (splice donor variant)	CYP7A1-related disorder	GUncertain significance
Select item 3355348	NM_000780.4(CYP7A1):c.1334C>T (p.Pro445Leu)	CYP7A1 (P445L)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3354292	NM_000780.4(CYP7A1):c.404G>A (p.Gly135Asp)	CYP7A1 (G135D)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3352371	NM_000780.4(CYP7A1):c.517T>G (p.Ser173Ala)	CYP7A1 (S173A)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3351854	NM_000780.4(CYP7A1):c.*9C>G	CYP7A1	Single nucleotide variant (3 prime UTR variant)	CYP7A1-related disorder	GLikely benign
Select item 3347881	NM_000780.4(CYP7A1):c.820G>A (p.Glu274Lys)	CYP7A1 (E274K)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3344500	NM_000780.4(CYP7A1):c.1176G>A (p.Gln392=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3270706	NM_000780.4(CYP7A1):c.413T>C (p.Leu138Ser)	CYP7A1 (L138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079771	NM_000780.4(CYP7A1):c.845T>C (p.Val282Ala)	CYP7A1 (V282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079770	NM_000780.4(CYP7A1):c.800T>C (p.Leu267Ser)	CYP7A1 (L267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079769	NM_000780.4(CYP7A1):c.602A>T (p.His201Leu)	CYP7A1 (H201L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079768	NM_000780.4(CYP7A1):c.572A>G (p.Asp191Gly)	CYP7A1 (D191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079767	NM_000780.4(CYP7A1):c.197T>G (p.Val66Gly)	CYP7A1 (V66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079766	NM_000780.4(CYP7A1):c.1469C>G (p.Pro490Arg)	CYP7A1 (P490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079764	NM_000780.4(CYP7A1):c.1204C>A (p.Pro402Thr)	CYP7A1, LOC126860400 (P402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079763	NM_000780.4(CYP7A1):c.1172C>T (p.Pro391Leu)	CYP7A1, LOC126860400 (P391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061196	NM_000780.4(CYP7A1):c.24G>T (p.Trp8Cys)	CYP7A1, LOC110596866 (W8C)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3057902	NM_000780.4(CYP7A1):c.849C>T (p.Leu283=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3053370	NM_000780.4(CYP7A1):c.822G>A (p.Glu274=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3052071	NM_000780.4(CYP7A1):c.402G>A (p.Gln134=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3035669	NM_000780.4(CYP7A1):c.474C>T (p.Ser158=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3032842	NM_000780.4(CYP7A1):c.481T>G (p.Ser161Ala)	CYP7A1 (S161A)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3030397	NM_000780.4(CYP7A1):c.1164T>C (p.Ala388=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3030025	NM_000780.4(CYP7A1):c.627C>T (p.Phe209=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3029811	NM_000780.4(CYP7A1):c.379G>A (p.Asp127Asn)	CYP7A1 (D127N)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3029559	NM_000780.4(CYP7A1):c.489C>T (p.Thr163=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3029089	NM_000780.4(CYP7A1):c.347C>T (p.Pro116Leu)	CYP7A1 (P116L)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3016971	NM_000780.4(CYP7A1):c.956T>C (p.Leu319Ser)	CYP7A1 (L319S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016153	NM_000780.4(CYP7A1):c.1233G>A (p.Arg411=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008855	NM_000780.4(CYP7A1):c.1100A>T (p.Lys367Met)	CYP7A1, LOC126860400 (K367M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004288	NM_000780.4(CYP7A1):c.128G>T (p.Gly43Val)	CYP7A1 (G43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988261	NM_000780.4(CYP7A1):c.1348G>A (p.Ala450Thr)	CYP7A1 (A450T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985706	NM_000780.4(CYP7A1):c.1224A>G (p.Lys408=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980751	NM_000780.4(CYP7A1):c.81-18T>C	CYP7A1, LOC110596866	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978035	NM_000780.4(CYP7A1):c.778C>A (p.Arg260Ser)	CYP7A1 (R260S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978034	NM_000780.4(CYP7A1):c.815A>C (p.Asp272Ala)	CYP7A1 (D272A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974830	NM_000780.4(CYP7A1):c.426G>A (p.Thr142=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964753	NM_000780.4(CYP7A1):c.1374G>T (p.Leu458Phe)	CYP7A1 (L458F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906009	NM_000780.4(CYP7A1):c.915A>G (p.Pro305=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902473	NM_000780.4(CYP7A1):c.888G>C (p.Trp296Cys)	CYP7A1 (W296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895414	NM_000780.4(CYP7A1):c.615T>C (p.Asn205=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864183	NM_000780.4(CYP7A1):c.850T>A (p.Trp284Arg)	CYP7A1 (W284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842474	NM_000780.4(CYP7A1):c.629A>G (p.Lys210Arg)	CYP7A1 (K210R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842227	NM_000780.4(CYP7A1):c.285T>A (p.Phe95Leu)	CYP7A1 (F95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834205	NM_000780.4(CYP7A1):c.321+13A>G	CYP7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830641	NM_000780.4(CYP7A1):c.533T>C (p.Val178Ala)	CYP7A1 (V178A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830555	NM_000780.4(CYP7A1):c.678C>T (p.His226=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824543	NM_000780.4(CYP7A1):c.957del (p.Glu320fs)	CYP7A1 (E320fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2807131	NM_000780.4(CYP7A1):c.1461C>T (p.Gly487=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798394	NM_000780.4(CYP7A1):c.532G>A (p.Val178Met)	CYP7A1 (V178M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779151	NM_000780.4(CYP7A1):c.1066C>T (p.Leu356Phe)	CYP7A1, LOC126860400 (L356F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776278	NM_000780.4(CYP7A1):c.1229A>G (p.Asp410Gly)	CYP7A1, LOC126860400 (D410G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771604	NM_000780.4(CYP7A1):c.819G>A (p.Leu273=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755563	NM_000780.4(CYP7A1):c.382del (p.Thr128fs)	CYP7A1 (T128fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2729804	NM_000780.4(CYP7A1):c.837C>A (p.His279Gln)	CYP7A1 (H279Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729760	NM_000780.4(CYP7A1):c.1039+2T>A	CYP7A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2728170	NM_000780.4(CYP7A1):c.940_946del (p.Glu314fs)	CYP7A1 (E314fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2726587	NM_000780.4(CYP7A1):c.1410A>T (p.Ile470=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706645	NM_000780.4(CYP7A1):c.255_257del (p.His86del)	CYP7A1 (H86del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2692798	NM_000780.4(CYP7A1):c.908+5C>T	CYP7A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2636582	NM_000780.4(CYP7A1):c.749G>T (p.Arg250Met)	CYP7A1 (R250M)	Single nucleotide variant (missense variant)	CYP7A1-related disorder +1 more	GUncertain significance
Select item 2635773	NM_000780.4(CYP7A1):c.1090C>T (p.Arg364Trp)	CYP7A1, LOC126860400 (R364W)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 2629513	NM_000780.4(CYP7A1):c.642A>C (p.Lys214Asn)	CYP7A1 (K214N)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 2619338	NM_000780.4(CYP7A1):c.434T>G (p.Met145Arg)	CYP7A1 (M145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575976	NM_000780.4(CYP7A1):c.224A>G (p.Tyr75Cys)	CYP7A1 (Y75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550438	NM_000780.4(CYP7A1):c.722G>A (p.Ser241Asn)	CYP7A1 (S241N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2525364	NM_000780.4(CYP7A1):c.1304T>C (p.Met435Thr)	CYP7A1 (M435T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2514180	NM_000780.4(CYP7A1):c.653C>A (p.Ala218Asp)	CYP7A1 (A218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487717	NM_000780.4(CYP7A1):c.703C>G (p.Arg235Gly)	CYP7A1 (R235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419518	NM_000780.4(CYP7A1):c.320A>C (p.Lys107Thr)	CYP7A1 (K107T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416725	NM_000780.4(CYP7A1):c.682T>G (p.Phe228Val)	CYP7A1 (F228V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2360421	NM_000780.4(CYP7A1):c.1293G>T (p.Lys431Asn)	CYP7A1 (K431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321723	NM_000780.4(CYP7A1):c.178C>A (p.Gln60Lys)	CYP7A1 (Q60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319211	NM_000780.4(CYP7A1):c.943G>A (p.Val315Met)	CYP7A1 (V315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276931	NM_000780.4(CYP7A1):c.880A>G (p.Thr294Ala)	CYP7A1 (T294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255624	NM_000780.4(CYP7A1):c.581G>A (p.Arg194Lys)	CYP7A1 (R194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247053	NM_000780.4(CYP7A1):c.1214T>G (p.Leu405Trp)	CYP7A1, LOC126860400 (L405W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2234186	NM_000780.4(CYP7A1):c.559A>G (p.Ile187Val)	CYP7A1 (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188894	NM_000780.4(CYP7A1):c.470T>C (p.Val157Ala)	CYP7A1 (V157A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176403	NM_000780.4(CYP7A1):c.692C>T (p.Ala231Val)	CYP7A1 (A231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117825	NM_000780.4(CYP7A1):c.368A>T (p.Glu123Val)	CYP7A1 (E123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084241	NM_000780.4(CYP7A1):c.1469C>T (p.Pro490Leu)	CYP7A1 (P490L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078522	NM_000780.4(CYP7A1):c.1119C>G (p.His373Gln)	CYP7A1, LOC126860400 (H373Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2062960	NM_000780.4(CYP7A1):c.1448G>A (p.Arg483Gln)	CYP7A1 (R483Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060256	NM_000780.4(CYP7A1):c.857C>T (p.Ser286Leu)	CYP7A1 (S286L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056243	NM_000780.4(CYP7A1):c.1249G>A (p.Gly417Arg)	CYP7A1 (G417R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055990	NM_000780.4(CYP7A1):c.12A>G (p.Thr4=)	CYP7A1, LOC110596866	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055294	NM_000780.4(CYP7A1):c.310A>G (p.Thr104Ala)	CYP7A1 (T104A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981050	NM_000780.4(CYP7A1):c.306T>C (p.Phe102=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952318	NM_000780.4(CYP7A1):c.322-20C>T	CYP7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934811	NM_000780.4(CYP7A1):c.114A>G (p.Leu38=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927294	NM_000780.4(CYP7A1):c.791A>G (p.Asn264Ser)	CYP7A1 (N264S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1926883	NM_000780.4(CYP7A1):c.1081C>G (p.Leu361Val)	CYP7A1, LOC126860400 (L361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918905	NM_000780.4(CYP7A1):c.240A>G (p.Thr80=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911416	NM_000780.4(CYP7A1):c.918_919inv (p.Glu306_Ala307delinsAspSer)	CYP7A1	Inversion (missense variant)	not provided	GUncertain significance
Select item 1903621	NM_000780.4(CYP7A1):c.321+7A>T	CYP7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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