"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CYP27A1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1748561	NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)	CYP27A1 (G19S)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GConflicting classifications of pathogenicity
Select item 1755502	NM_000784.4(CYP27A1):c.67C>A (p.His23Asn)	CYP27A1 (H23N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1494439	NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp)	CYP27A1 (S37W)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 500520	NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu)	CYP27A1 (R53L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 287315	NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)	CYP27A1 (L81M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1479912	NM_000784.4(CYP27A1):c.283A>G (p.Met95Val)	CYP27A1 (M95V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1378445	NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu)	CYP27A1 (P112L)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
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 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 498357	NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)	CYP27A1 (R164P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1104671	NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)	CYP27A1 (A169E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1671633	NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn)	CYP27A1 (D183N)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GConflicting classifications of pathogenicity
Select item 1408412	NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr)	CYP27A1 (P234T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 834683	NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)	CYP27A1 (P234L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1758408	NM_000784.4(CYP27A1):c.733G>C (p.Gly245Arg)	CYP27A1 (G245R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2167174	NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)	CYP27A1 (K284R)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 281718	NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu)	CYP27A1 (V307L)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 284184	NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe)	CYP27A1 (L320F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 785765	NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)	CYP27A1 (V368L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 65833	NM_000784.4(CYP27A1):c.1184+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 597084	NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)	CYP27A1 (R433W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 895850	NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)	CYP27A1 (T457A)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
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 597806	NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)	CYP27A1 (A491T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 858497	NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)	CYP27A1 (T505M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 593445	NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)	CYP27A1 (V522M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29