"PreventionGenetics, part of Exact Sciences"[submitter] AND "CYP27A1"[ - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282570	NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)	CYP27A1 (M1T)	Single nucleotide variant (missense variant +1 more)	CYP27A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1343504	NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)	CYP27A1 (A7V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1097485	NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +2 more	GLikely benign
Select item 285954	NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 528492	NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)	CYP27A1 (L72Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GUncertain significance
Select item 597075	NM_000784.4(CYP27A1):c.256-3C>T	CYP27A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 896054	NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +1 more	GConflicting classifications of pathogenicity
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 3014794	NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +1 more	GLikely benign
Select item 65867	NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	CYP27A1 (R137W)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 65929	NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	CYP27A1 (R137Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500439	NM_000784.4(CYP27A1):c.420C>T (p.His140=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 65869	NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 65870	NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1100346	NM_000784.4(CYP27A1):c.450A>G (p.Glu150=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +1 more	GLikely benign
Select item 498357	NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)	CYP27A1 (R164P)	Single nucleotide variant (missense variant)	Cholestanol storage disease +3 more	GConflicting classifications of pathogenicity
Select item 284176	NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)	CYP27A1 (R164Q)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1097368	NM_000784.4(CYP27A1):c.501G>A (p.Lys167=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +2 more	GLikely benign
Select item 749649	NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 334367	NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	CYP27A1 (D176fs)	Deletion (frameshift variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 501615	NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met)	CYP27A1 (I182M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 801897	NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)	CYP27A1 (R188*)	Single nucleotide variant (nonsense)	CYP27A1-related disorder +1 more	GPathogenic
Select item 288473	NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)	CYP27A1 (R193Q)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 741509	NM_000784.4(CYP27A1):c.594G>A (p.Ser198=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +2 more	GLikely benign
Select item 286323	NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 497881	NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +3 more	GConflicting classifications of pathogenicity
Select item 65885	NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	CYP27A1 (A216P)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 196288	NM_000784.4(CYP27A1):c.646+4C>T	CYP27A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256798	NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)	CYP27A1 (R225C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 334368	NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)	CYP27A1 (E235K)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GConflicting classifications of pathogenicity
Select item 1284558	NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys)	CYP27A1 (R262C)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GUncertain significance
Select item 287206	NM_000784.4(CYP27A1):c.792G>A (p.Val264=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +3 more	GConflicting classifications of pathogenicity
Select item 3061148	NM_000784.4(CYP27A1):c.798T>G (p.Pro266=)	CYP27A1	Single nucleotide variant (synonymous variant)	CYP27A1-related disorder	GLikely benign
Select item 197696	NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284184	NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe)	CYP27A1 (L320F)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +3 more	GUncertain significance
Select item 594005	NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp)	CYP27A1 (R323W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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)	CYP27A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3046752	NM_000784.4(CYP27A1):c.1020_1022del (p.Ser341del)	CYP27A1 (S341del)	Deletion (inframe deletion)	CYP27A1-related disorder	GUncertain significance
Select item 1548220	NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)	CYP27A1 (N342S)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 286891	NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)	CYP27A1 (V368L)	Indel (missense variant)	CYP27A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 65831	NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	CYP27A1 (P384L)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GConflicting classifications of pathogenicity
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 334374	NM_000784.4(CYP27A1):c.1184+9G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease +1 more	GConflicting classifications of pathogenicity
Select item 290429	NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys)	CYP27A1 (Y429C)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GUncertain significance
Select item 4259	NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	CYP27A1 (R474W)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 4258	NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	CYP27A1 (R474Q)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic
Select item 502506	NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 256797	NM_000784.4(CYP27A1):c.1434C>A (p.Gly478=)	CYP27A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 4254	NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	CYP27A1 (R479C)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 498030	NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)	CYP27A1 (R479H)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 282791	NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)	CYP27A1 (A491S)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +4 more	GBenign/Likely benign
Select item 1447408	NM_000784.4(CYP27A1):c.1477-3C>A	CYP27A1	Single nucleotide variant (intron variant)	CYP27A1-related disorder +1 more	GUncertain significance
Select item 509776	NM_000784.4(CYP27A1):c.1477-3C>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease +2 more	GConflicting classifications of pathogenicity
Select item 199040	NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)	CYP27A1 (A502D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 726802	NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1393702	NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu)	CYP27A1 (R513L)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +1 more	GUncertain significance
Select item 1389654	NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser)	CYP27A1 (N519S)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GUncertain significance
Select item 598100	NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 59