C0238052[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280048	NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	CYP27A1 (R8fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65882	NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)	CYP27A1 (A3fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2674717	NM_000784.4(CYP27A1):c.20del (p.Ala7fs)	CYP27A1 (A7fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 971111	NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)	CYP27A1 (L9fs)	Duplication (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 1365147	NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	CYP27A1 (W11*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 3241274	NM_000784.4(CYP27A1):c.38del (p.Leu13fs)	CYP27A1 (L13fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 817356	NM_000784.4(CYP27A1):c.67dup (p.His23fs)	CYP27A1 (H23fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241272	NM_000784.4(CYP27A1):c.160C>T (p.Gln54Ter)	CYP27A1 (Q54*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 553433	NM_000784.4(CYP27A1):c.256-1G>T	CYP27A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2674707	NM_000784.4(CYP27A1):c.303del (p.Pro102fs)	CYP27A1 (P102fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 3241273	NM_000784.4(CYP27A1):c.346C>T (p.Gln116Ter)	CYP27A1 (Q116*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65865	NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	CYP27A1 (R127W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 65866	NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	CYP27A1 (R127Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2674705	NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)	CYP27A1 (M130K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1724420	NM_000784.4(CYP27A1):c.395del (p.Leu132fs)	CYP27A1 (L132fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 65867	NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	CYP27A1 (R137W)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 65929	NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	CYP27A1 (R137Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 65868	NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)	CYP27A1 (G145R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65869	NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 65871	NM_000784.4(CYP27A1):c.446+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1483601	NM_000784.4(CYP27A1):c.447-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674723	NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)	CYP27A1 (W154*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 2674724	NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)	CYP27A1 (Q159fs)	Duplication (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 65873	NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)	CYP27A1 (Q159*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic
Select item 2674710	NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)	CYP27A1 (Y174*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 334367	NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	CYP27A1 (D176fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 2674706	NM_000784.4(CYP27A1):c.547del (p.Asp183fs)	CYP27A1 (D183fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 801897	NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)	CYP27A1 (R188*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 2674722	NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)	CYP27A1 (Q191*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 632347	NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	CYP27A1 (S196fs)	Microsatellite (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 2674726	NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)	CYP27A1 (S203fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1028373	NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr)	CYP27A1 (M205T)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 65885	NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	CYP27A1 (A216P)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 3241275	NM_000784.4(CYP27A1):c.646+1G>T	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 498394	NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)	CYP27A1 (F222fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65891	NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)	CYP27A1 (R231*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 1455620	NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)	CYP27A1 (Y253fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65896	NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)	CYP27A1 (S251*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65898	NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	CYP27A1 (K259R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 65899	NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)	CYP27A1 (W260*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65902	NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	CYP27A1 (R270*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 65903	NM_000784.4(CYP27A1):c.819del (p.Asp273fs)	CYP27A1 (D273fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 1944969	NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)	CYP27A1 (W275*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 2203263	NM_000784.4(CYP27A1):c.844+1G>T	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2674718	NM_000784.4(CYP27A1):c.845-46_881del	CYP27A1	Deletion (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674709	NM_000784.4(CYP27A1):c.845-1G>C	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4256	NM_000784.4(CYP27A1):c.845-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 65907	NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)	CYP27A1 (K284*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic
Select item 3241271	NM_000784.4(CYP27A1):c.858del (p.Ile286fs)	CYP27A1 (I286fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 502269	NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)	CYP27A1 (Q296*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 4265	NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	CYP27A1 (L315fs)	Deletion (frameshift variant)	Cholestanol storage disease +2 more	GPathogenic/Likely pathogenic
Select item 2674715	NM_000784.4(CYP27A1):c.953del (p.Gly318fs)	CYP27A1 (G318fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674716	NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)	CYP27A1 (L329fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 817967	NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)	CYP27A1 (G336fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4266	NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	CYP27A1 (T339M)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 1365358	NM_000784.4(CYP27A1):c.1017+1del	CYP27A1	Deletion (splice donor variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 1525265	NM_000784.4(CYP27A1):c.1018-1G>C	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 642850	NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)	CYP27A1 (P355fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 554665	NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	CYP27A1 (Q358*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 1804694	NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)	CYP27A1 (Q376fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 2674720	NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)	CYP27A1 (H382fs)	Indel (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674721	NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)	CYP27A1 (K391fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 558186	NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)	CYP27A1 (L394fs)	Microsatellite (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4261	NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	CYP27A1 (R395S)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65834	NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	CYP27A1 (R395H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65833	NM_000784.4(CYP27A1):c.1184+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 500370	NM_000784.4(CYP27A1):c.1185-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease +1 more	GPathogenic
Select item 65835	NM_000784.4(CYP27A1):c.1185-1G>T	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic
Select item 2710970	NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)	CYP27A1 (P398fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 65837	NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	CYP27A1 (N403K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GConflicting classifications of pathogenicity
Select item 65838	NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	CYP27A1 (R405W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 4260	NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	CYP27A1 (R405Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 1372101	NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter)	CYP27A1 (D414*)	Duplication (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4262	NM_000784.4(CYP27A1):c.1263+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease +1 more	GPathogenic
Select item 65841	NM_000784.4(CYP27A1):c.1263+5G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GPathogenic
Select item 65844	NM_000784.4(CYP27A1):c.1264-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic
Select item 2674713	NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)	CYP27A1 (Q445fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1385057	NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)	CYP27A1 (Q445*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 2674711	NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)	CYP27A1 (R459fs)	Duplication (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1499459	NM_000784.4(CYP27A1):c.1374del (p.Arg459fs)	CYP27A1 (R459fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 597631	NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)	CYP27A1 (Q461*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic
Select item 65851	NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	CYP27A1 (G472A)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4259	NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	CYP27A1 (R474W)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 4258	NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	CYP27A1 (R474Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GPathogenic
Select item 4267	NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	CYP27A1 (R479G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4254	NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	CYP27A1 (R479C)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic
Select item 2674714	NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)	CYP27A1 (E485*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 2674725	NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)	CYP27A1 (L490fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 2674727	NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)	CYP27A1 (R492fs)	Duplication (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1176421	NM_000784.4(CYP27A1):c.1476+2T>C	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease +1 more	GPathogenic
Select item 379475	NM_000784.4(CYP27A1):c.1477-2A>C	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease +2 more	GPathogenic/Likely pathogenic
Select item 2674712	NM_000784.4(CYP27A1):c.1477-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 557779	NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	CYP27A1 (R513C)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 449362	NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)	CYP27A1 (R513H)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GConflicting classifications of pathogenicity
Select item 555220	NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)	CYP27A1 (Q525*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GConflicting classifications of pathogenicity

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Items: 96