"Counsyl"[submitter] AND "CYP27A1"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550059	NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)	CYP27A1 (M1V)	Single nucleotide variant (missense variant +1 more)	Cholestanol storage disease	GUncertain significance
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 551614	NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)	CYP27A1	Deletion (inframe_deletion)	Cholestanol storage disease	GUncertain significance
Select item 554254	NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)	CYP27A1	Deletion (inframe_deletion)	Cholestanol storage disease	GUncertain significance
Select item 550694	NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)	CYP27A1 (E59del)	Microsatellite (inframe_deletion)	Cholestanol storage disease +2 more	GUncertain significance
Select item 550975	NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)	CYP27A1 (Q65*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 550863	NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)	CYP27A1 (F70del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 128883	NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)	CYP27A1 (F68C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 65865	NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	CYP27A1 (R127W)	Single nucleotide variant (missense variant)	See cases +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 65867	NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	CYP27A1 (R137W)	Single nucleotide variant (missense variant)	not provided +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 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 334367	NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	CYP27A1 (D176fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 550682	NM_000784.4(CYP27A1):c.539del (p.Glu180fs)	CYP27A1 (E180fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 558035	NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)	CYP27A1 (I182T)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GConflicting classifications of pathogenicity
Select item 557659	NM_000784.4(CYP27A1):c.646+1G>C	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 552311	NM_000784.4(CYP27A1):c.646+2T>C	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 553363	NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)	CYP27A1 (R225H)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 556785	NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup)	CYP27A1	Duplication (inframe_insertion)	Cholestanol storage disease	GUncertain significance
Select item 65895	NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)	CYP27A1 (Q249*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
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 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 4257	NM_000784.4(CYP27A1):c.844+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 555156	NM_000784.4(CYP27A1):c.845-2A>G	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 65617	NM_000784.4(CYP27A1):c.882G>A (p.Glu294=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 4265	NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	CYP27A1 (L315fs)	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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557345	NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 284271	NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554774	NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)	CYP27A1 (T343R)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
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 554045	NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)	CYP27A1 (E392K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 500465	NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)	CYP27A1 (E392A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 554066	NM_000784.4(CYP27A1):c.1185-2A>C	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 551730	NM_000784.4(CYP27A1):c.1185-2A>T	CYP27A1	Single nucleotide variant (splice acceptor 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 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 555733	NM_000784.4(CYP27A1):c.1263+2T>C	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 551760	NM_000784.4(CYP27A1):c.1264-2A>G	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GLikely 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 554734	NM_000784.4(CYP27A1):c.1427del (p.Cys476fs)	CYP27A1 (C476fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
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 556451	NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg)	CYP27A1	Deletion (inframe_indel)	Cholestanol storage disease	GUncertain significance
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
Select item 550703	NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)	CYP27A1 (Q528*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GUncertain significance
Select item 550934	NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter)	CYP27A1 (Q530*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GUncertain significance
Select item 556115	NM_000784.4(CYP27A1):c.1589del (p.Gln530fs)	CYP27A1 (Q530fs)	Deletion (frameshift variant)	Cholestanol storage disease	GUncertain significance
Select item 553613	NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)	CYP27A1 (C531fs)	Deletion (frameshift variant)	Cholestanol storage disease +2 more	GUncertain significance
Select item 553373	NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?)	CYP27A1	Deletion (frameshift variant +1 more)	Cholestanol storage disease	GUncertain significance

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Items: 57