1593[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 1218849	NC_000002.12:g.218781406T>C	CYP27A1	Single nucleotide variant	not provided	GLikely benign
Select item 1201221	NC_000002.12:g.218781453C>T	CYP27A1	Single nucleotide variant	not provided	GLikely benign
Select item 1203655	NC_000002.12:g.218781575A>G	CYP27A1	Single nucleotide variant	not provided	GLikely benign
Select item 1205029	NC_000002.12:g.218781609G>T	CYP27A1	Single nucleotide variant	not provided	GLikely benign
Select item 1283323	NC_000002.12:g.218781638del	CYP27A1	Deletion	not provided	GBenign
Select item 1186272	NC_000002.12:g.218781747T>C	CYP27A1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 334361	NM_000784.3(CYP27A1):c.-370T>C	CYP27A1	Single nucleotide variant	Cholestanol storage disease	GUncertain significance
Select item 334362	NM_000784.3(CYP27A1):c.-357dup	CYP27A1	Duplication	Cholestanol storage disease +1 more	GBenign
Select item 334363	NM_000784.3(CYP27A1):c.-335C>T	CYP27A1	Single nucleotide variant	Cholestanol storage disease	GUncertain significance
Select item 334364	NM_000784.3(CYP27A1):c.-205C>A	CYP27A1	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334365	NM_000784.3(CYP27A1):c.-182C>T	CYP27A1	Single nucleotide variant	Cholestanol storage disease	GUncertain significance
Select item 334366	NM_000784.3(CYP27A1):c.-162C>T	CYP27A1	Single nucleotide variant	Cholestanol storage disease	GUncertain significance
Select item 193124	NM_000784.4(CYP27A1):c.-6C>T	CYP27A1	Single nucleotide variant (5 prime UTR variant)	Cholestanol storage disease +2 more	GConflicting classifications of pathogenicity
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 282570	NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)	CYP27A1 (M1T)	Single nucleotide variant (missense variant +1 more)	CYP27A1-related condition +3 more	GConflicting classifications of pathogenicity
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 65882	NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)	CYP27A1 (A3fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1997776	NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)	CYP27A1 (L4M)	Indel (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1768933	NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +1 more	GLikely benign
Select item 1557532	NM_000784.4(CYP27A1):c.9G>T (p.Ala3=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1354264	NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp)	CYP27A1 (G5D)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1462401	NM_000784.4(CYP27A1):c.15C>T (p.Gly5=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 2674717	NM_000784.4(CYP27A1):c.20del (p.Ala7fs)	CYP27A1 (A7fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
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 1654941	NM_000784.4(CYP27A1):c.21G>C (p.Ala7=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1560966	NM_000784.4(CYP27A1):c.21G>A (p.Ala7=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 971111	NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)	CYP27A1 (L9fs)	Duplication (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 1573404	NM_000784.4(CYP27A1):c.25C>T (p.Leu9=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1716015	NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)	CYP27A1 (L9P)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1951516	NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)	CYP27A1 (R10K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1365147	NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	CYP27A1 (W11*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 809159	NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)	CYP27A1 (W11*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
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 2015561	NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1097485	NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +2 more	GLikely benign
Select item 3232288	NM_000784.4(CYP27A1):c.37C>T (p.Leu13=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1395084	NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro)	CYP27A1 (L13P)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1672316	NM_000784.4(CYP27A1):c.39G>A (p.Leu13=)	CYP27A1	Single nucleotide variant (synonymous 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 1076506	NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)	CYP27A1 (A16fs)	Duplication (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 1457639	NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs)	CYP27A1 (A16fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 551614	NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)	CYP27A1	Deletion (inframe_deletion)	Cholestanol storage disease	GUncertain significance
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 1590029	NM_000784.4(CYP27A1):c.45G>A (p.Gly15=)	CYP27A1	Single nucleotide variant (synonymous 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 1541532	NM_000784.4(CYP27A1):c.48C>A (p.Ala16=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1154206	NM_000784.4(CYP27A1):c.48C>G (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 2120201	NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)	CYP27A1 (R18C)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1343503	NM_000784.4(CYP27A1):c.53G>T (p.Arg18Leu)	CYP27A1 (R18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1964916	NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1748561	NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)	CYP27A1 (G19S)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GConflicting classifications of pathogenicity
Select item 1500371	NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala)	CYP27A1 (G19A)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1461563	NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val)	CYP27A1 (G19V)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1909310	NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1677024	NM_000784.4(CYP27A1):c.58del (p.Leu20fs)	CYP27A1 (L20fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1425076	NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg)	CYP27A1 (C21R)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1518216	NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr)	CYP27A1 (C21Y)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 817356	NM_000784.4(CYP27A1):c.67dup (p.His23fs)	CYP27A1 (H23fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1135545	NM_000784.4(CYP27A1):c.63C>T (p.Cys21=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 594811	NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp)	CYP27A1 (C21W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1116926	NM_000784.4(CYP27A1):c.66C>T (p.Pro22=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1108113	NM_000784.4(CYP27A1):c.66C>G (p.Pro22=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 968241	NM_000784.4(CYP27A1):c.69_82del (p.His23fs)	CYP27A1 (H23fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 1755502	NM_000784.4(CYP27A1):c.67C>A (p.His23Asn)	CYP27A1 (H23N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1439708	NM_000784.4(CYP27A1):c.68A>C (p.His23Pro)	CYP27A1 (H23P)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1343505	NM_000784.4(CYP27A1):c.68A>G (p.His23Arg)	CYP27A1 (H23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677027	NM_000784.4(CYP27A1):c.69C>T (p.His23=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +3 more	GLikely benign
Select item 65894	NM_000784.4(CYP27A1):c.73del (p.Ala25fs)	CYP27A1 (A25fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 554254	NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)	CYP27A1	Deletion (inframe_deletion)	Cholestanol storage disease	GUncertain significance
Select item 1343502	NM_000784.4(CYP27A1):c.74C>G (p.Ala25Gly)	CYP27A1 (A25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1365404	NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys)	CYP27A1 (R26K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 2750796	NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)	CYP27A1 (A27fs)	Duplication (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 500828	NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)	CYP27A1 (K28T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1372428	NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn)	CYP27A1 (K28N)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1764004	NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)	CYP27A1 (A29T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1548505	NM_000784.4(CYP27A1):c.87C>T (p.Ala29=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1138056	NM_000784.4(CYP27A1):c.93C>T (p.Ile31=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +1 more	GLikely benign
Select item 1464713	NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr)	CYP27A1 (A33T)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 1662009	NM_000784.4(CYP27A1):c.99C>T (p.Ala33=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +1 more	GLikely benign
Select item 546890	NM_000784.4(CYP27A1):c.102C>T (p.Ala34=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1486792	NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro)	CYP27A1 (L35P)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 2429165	NM_000784.4(CYP27A1):c.108del (p.Ser37fs)	CYP27A1 (S37fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 2046020	NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1990938	NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1667935	NM_000784.4(CYP27A1):c.108C>T (p.Pro36=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1494439	NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp)	CYP27A1 (S37W)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 598667	NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu)	CYP27A1 (S37L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1980407	NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1423025	NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val)	CYP27A1 (D38V)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 2772668	NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)	CYP27A1 (K39*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 1992603	NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign

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