ClinVar for MedGen (Select 116041) - ClinVar - NCBI

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	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 3020031	NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3019759	NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3018938	NM_000784.4(CYP27A1):c.1477-19T>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 3014794	NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3014469	NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3013401	NM_000784.4(CYP27A1):c.1018-19C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 3008032	NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3006198	NM_000784.4(CYP27A1):c.256-16T>G	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 3003119	NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3002793	NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)	CYP27A1 (Q358fs)	Duplication (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 3001821	NM_000784.4(CYP27A1):c.1018-4C>G	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 3000728	NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 3000129	NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)	CYP27A1 (K134T)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 2998509	NM_000784.4(CYP27A1):c.255+14G>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2997973	NM_000784.4(CYP27A1):c.647-17C>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2988454	NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2984245	NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2968723	NM_000784.4(CYP27A1):c.447-12G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2965210	NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2959576	NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2957923	NM_000784.4(CYP27A1):c.1477-13C>G	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2955852	NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2916375	NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2915058	NM_000784.4(CYP27A1):c.647-19G>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2914009	NM_000784.4(CYP27A1):c.647-7T>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2912089	NM_000784.4(CYP27A1):c.1477-13C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2910946	NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2908842	NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)	CYP27A1 (Y219fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 2908385	NM_000784.4(CYP27A1):c.446+9G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2902361	NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2900498	NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2894137	NM_000784.4(CYP27A1):c.1263+19C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2884723	NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)	CYP27A1 (K520R)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 2882430	NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)	CYP27A1 (Y155*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 2878228	NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2877357	NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2873784	NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +1 more	GLikely benign
Select item 2870460	NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)	CYP27A1 (K496E)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GLikely benign
Select item 2869231	NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2867138	NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2866198	NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2865512	NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2860323	NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2860188	NM_000784.4(CYP27A1):c.1476+17T>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2859148	NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2857730	NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2852112	NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2851614	NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2851538	NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2848679	NM_000784.4(CYP27A1):c.1018-19C>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2847318	NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2845813	NM_000784.4(CYP27A1):c.1477-16G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2841497	NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)	CYP27A1 (Q85fs)	Duplication (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 2839863	NM_000784.4(CYP27A1):c.845-12T>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2838476	NM_000784.4(CYP27A1):c.639del (p.Leu214fs)	CYP27A1 (L214fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 2838120	NM_000784.4(CYP27A1):c.351G>T (p.Val117=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2834449	NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2833540	NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2830733	NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2830492	NM_000784.4(CYP27A1):c.1017+17G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2829106	NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2827255	NM_000784.4(CYP27A1):c.844+13A>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2827211	NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2826702	NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2824532	NM_000784.4(CYP27A1):c.1477-6C>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2822427	NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2821797	NM_000784.4(CYP27A1):c.256-6C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2819990	NM_000784.4(CYP27A1):c.447-8C>G	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2815738	NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2814796	NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2814380	NM_000784.4(CYP27A1):c.1477-7C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2813705	NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2812361	NM_000784.4(CYP27A1):c.256-9A>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2810641	NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2809370	NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2808411	NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2808345	NM_000784.4(CYP27A1):c.647-18C>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2807016	NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2806047	NM_000784.4(CYP27A1):c.1477-4C>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2801606	NM_000784.4(CYP27A1):c.1185-19G>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2798959	NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2796988	NM_000784.4(CYP27A1):c.647-18C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2790056	NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2789816	NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2788852	NM_000784.4(CYP27A1):c.1184+20T>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2788710	NM_000784.4(CYP27A1):c.446+18G>A	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2788586	NM_000784.4(CYP27A1):c.1477-19T>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2777519	NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2777014	NM_000784.4(CYP27A1):c.844+14G>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign
Select item 2773295	NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2772668	NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)	CYP27A1 (K39*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 2772661	NM_000784.4(CYP27A1):c.351G>C (p.Val117=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2771722	NM_000784.4(CYP27A1):c.646+11T>C	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GLikely benign

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