Related gene-specific medical variations for Gene (Select 1593) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247144	NC_000002.11:g.(?_219674280)_(219677492_?)del	CYP27A1	Deletion	Cholestanol storage disease	GPathogenic
Select item 3247143	NC_000002.11:g.(?_219674280)_(219674510_?)del	CYP27A1	Deletion	Cholestanol storage disease	GPathogenic
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 3241274	NM_000784.4(CYP27A1):c.38del (p.Leu13fs)	CYP27A1 (L13fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 3241273	NM_000784.4(CYP27A1):c.346C>T (p.Gln116Ter)	CYP27A1 (Q116*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
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 3241271	NM_000784.4(CYP27A1):c.858del (p.Ile286fs)	CYP27A1 (I286fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674727	NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)	CYP27A1 (R492fs)	Duplication (frameshift variant)	Cholestanol storage disease	GLikely 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 2674724	NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)	CYP27A1 (Q159fs)	Duplication (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674722	NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)	CYP27A1 (Q191*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 2674720	NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)	CYP27A1 (H382fs)	Indel (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674718	NM_000784.4(CYP27A1):c.845-46_881del	CYP27A1	Deletion (splice acceptor variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2674717	NM_000784.4(CYP27A1):c.20del (p.Ala7fs)	CYP27A1 (A7fs)	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 2674715	NM_000784.4(CYP27A1):c.953del (p.Gly318fs)	CYP27A1 (G318fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
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 2674713	NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)	CYP27A1 (Q445fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely 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 2674711	NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)	CYP27A1 (R459fs)	Duplication (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
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 2674705	NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)	CYP27A1 (M130K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1807447	NM_000784.4(CYP27A1):c.139G>A (p.Gly47Arg)	CYP27A1 (G47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256797	NM_000784.4(CYP27A1):c.1434C>A (p.Gly478=)	CYP27A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 65999	NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)	CYP27A1 (W133*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65910	NM_000784.4(CYP27A1):c.863del (p.Glu288fs)	CYP27A1 (E288fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65908	NM_000784.4(CYP27A1):c.852G>A (p.Lys284=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GBenign
Select item 65899	NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)	CYP27A1 (W260*)	Single nucleotide variant (nonsense)	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 65894	NM_000784.4(CYP27A1):c.73del (p.Ala25fs)	CYP27A1 (A25fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65886	NM_000784.4(CYP27A1):c.647-1G>T	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic
Select item 65878	NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)	CYP27A1 (E195*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65864	NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)	CYP27A1 (P125fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65863	NM_000784.4(CYP27A1):c.366= (p.Gly122=)	CYP27A1	Single nucleotide variant (no sequence alteration)	Cholestanol storage disease	GBenign
Select item 65861	NM_000784.4(CYP27A1):c.355del (p.Arg119fs)	CYP27A1 (R119fs)	Deletion (frameshift variant)	Cholestanol storage disease	Gnot provided
Select item 65856	NM_000784.4(CYP27A1):c.305del (p.Pro102fs)	CYP27A1 (P102fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65850	NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)	CYP27A1 (P468S)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65840	NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)	CYP27A1 (V413D)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65839	NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)	CYP27A1 (E408*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65836	NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)	CYP27A1 (P401R)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65827	NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)	CYP27A1 (D354G)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65825	NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GPathogenic

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Links from Gene

Items: 42