NPC1L1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 146583	GRCh38/hg38 7p13(chr7:44287818-44581121)x3	CAMK2B, DDX56 +10 more	Copy number gain	See cases	GBenign
Select item 151519	GRCh38/hg38 7p13(chr7:44345798-45076469)x3	CCM2, DDX56 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2460246	NM_001101648.2(NPC1L1):c.3989G>A (p.Arg1330Gln)	NPC1L1 (R1357Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214814	NM_001101648.2(NPC1L1):c.3988C>T (p.Arg1330Trp)	NPC1L1 (R1330W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253380	NM_001101648.2(NPC1L1):c.3933T>G (p.Phe1311Leu)	NPC1L1 (F1338L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035704	NM_001101648.2(NPC1L1):c.3841G>A (p.Glu1281Lys)	NPC1L1 (E1281K +1 more)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GBenign
Select item 2362904	NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu)	NPC1L1 (P1271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403255	NM_001101648.2(NPC1L1):c.3807T>C (p.Val1269=)	NPC1L1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2400275	NM_001101648.2(NPC1L1):c.3805G>A (p.Val1269Ile)	NPC1L1 (V1269I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035606	NM_001101648.2(NPC1L1):c.3797-11TC[2]	NPC1L1	Microsatellite (intron variant)	NPC1L1-related disorder	GBenign
Select item 3300755	NM_001101648.2(NPC1L1):c.3793G>A (p.Val1265Met)	NPC1L1 (V1292M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403256	NM_001101648.2(NPC1L1):c.3792C>T (p.Tyr1264=)	NPC1L1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2657430	NM_001101648.2(NPC1L1):c.3777C>T (p.Pro1259=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3300752	NM_001101648.2(NPC1L1):c.3740C>G (p.Thr1247Ser)	NPC1L1 (T1274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201592	NM_001101648.2(NPC1L1):c.3730C>G (p.Leu1244Val)	NPC1L1 (L1244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300747	NM_001101648.2(NPC1L1):c.3688G>A (p.Ala1230Thr)	NPC1L1 (A1257T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455685	NM_001101648.2(NPC1L1):c.3688G>T (p.Ala1230Ser)	NPC1L1 (A1230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403257	NM_001101648.2(NPC1L1):c.3634-9A>C	NPC1L1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3300757	NM_001101648.2(NPC1L1):c.3632C>A (p.Ala1211Glu)	NPC1L1 (A1238E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621	NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn)	NPC1L1 (I1233N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2344382	NM_001101648.2(NPC1L1):c.3518C>T (p.Ser1173Leu)	NPC1L1 (S1200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201591	NM_001101648.2(NPC1L1):c.3454A>G (p.Thr1152Ala)	NPC1L1 (T1179A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613641	NM_001101648.2(NPC1L1):c.3346C>A (p.Leu1116Ile)	NPC1L1 (L1116I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745816	NM_001101648.2(NPC1L1):c.3312G>C (p.Gln1104His)	NPC1L1 (Q1131H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2547134	NM_001101648.2(NPC1L1):c.3261C>A (p.Asp1087Glu)	NPC1L1 (D1087E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201590	NM_001101648.2(NPC1L1):c.3259G>T (p.Asp1087Tyr)	NPC1L1 (D1114Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778302	NM_001101648.2(NPC1L1):c.3259G>C (p.Asp1087His)	NPC1L1 (D1087H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3300749	NM_001101648.2(NPC1L1):c.3224A>G (p.Asn1075Ser)	NPC1L1 (N1102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476674	NM_001101648.2(NPC1L1):c.3203C>G (p.Ala1068Gly)	NPC1L1 (A1095G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785214	NM_001101648.2(NPC1L1):c.3200G>A (p.Arg1067Gln)	NPC1L1 (R1067Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2307162	NM_001101648.2(NPC1L1):c.3137-1261C>T	NPC1L1 (S1062L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201589	NM_001101648.2(NPC1L1):c.3137-1268A>G	NPC1L1 (T1060A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201588	NM_001101648.2(NPC1L1):c.3137-1291C>T	NPC1L1 (S1052L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391530	NM_001101648.2(NPC1L1):c.3137-1304G>A	NPC1L1 (V1048I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657431	NM_001101648.2(NPC1L1):c.3137-1305A>G	NPC1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2371591	NM_001101648.2(NPC1L1):c.3101C>T (p.Thr1034Ile)	NPC1L1 (T1034I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403259	NM_001101648.2(NPC1L1):c.3086T>A (p.Leu1029Gln)	NPC1L1 (L1029Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657432	NM_001101648.2(NPC1L1):c.3081C>T (p.Gly1027=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778303	NM_001101648.2(NPC1L1):c.3080+9G>A	NPC1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2357276	NM_001101648.2(NPC1L1):c.2951T>A (p.Val984Asp)	NPC1L1 (V984D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300751	NM_001101648.2(NPC1L1):c.2950G>A (p.Val984Ile)	NPC1L1 (V984I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784109	NM_001101648.2(NPC1L1):c.2920C>T (p.Pro974Ser)	NPC1L1 (P974S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2559186	NM_001101648.2(NPC1L1):c.2909A>T (p.Tyr970Phe)	NPC1L1 (Y970F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521985	NM_001101648.2(NPC1L1):c.2894C>T (p.Ser965Phe)	NPC1L1 (S965F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378604	NM_001101648.2(NPC1L1):c.2777A>G (p.Asn926Ser)	NPC1L1 (N926S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619812	NM_001101648.2(NPC1L1):c.2685G>C (p.Glu895Asp)	NPC1L1 (E895D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724140	NM_001101648.2(NPC1L1):c.2673C>T (p.Asn891=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1801495	NM_001101648.2(NPC1L1):c.2638-43G>A	NPC1L1	Single nucleotide variant (intron variant)	Statins, attenuated cholesterol lowering by	Gdrug response
Select item 1801494	NM_001101648.2(NPC1L1):c.2637+1287A>G	NPC1L1	Single nucleotide variant (intron variant)	Statins, attenuated cholesterol lowering by	Gdrug response
Select item 2314270	NM_001101648.2(NPC1L1):c.2627C>A (p.Ala876Asp)	NPC1L1 (A876D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740117	NM_001101648.2(NPC1L1):c.2514C>G (p.Pro838=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790590	NM_001101648.2(NPC1L1):c.2505T>C (p.Ala835=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596091	NM_001101648.2(NPC1L1):c.2485C>T (p.Leu829Phe)	NPC1L1 (L829F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296415	NM_001101648.2(NPC1L1):c.2470G>A (p.Gly824Arg)	NPC1L1 (G824R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768146	NM_001101648.2(NPC1L1):c.2463T>G (p.Pro821=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201586	NM_001101648.2(NPC1L1):c.2459C>T (p.Pro820Leu)	NPC1L1 (P820L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391682	NM_001101648.2(NPC1L1):c.2447A>G (p.Gln816Arg)	NPC1L1 (Q816R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541541	NM_001101648.2(NPC1L1):c.2416C>T (p.Arg806Trp)	NPC1L1 (R806W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555788	NM_001101648.2(NPC1L1):c.2212C>G (p.Arg738Gly)	NPC1L1 (R738G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201585	NM_001101648.2(NPC1L1):c.2207T>C (p.Ile736Thr)	NPC1L1 (I736T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354130	NM_001101648.2(NPC1L1):c.2146A>G (p.Ile716Val)	NPC1L1 (I716V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211241	NM_001101648.2(NPC1L1):c.2078G>A (p.Arg693His)	NPC1L1 (R693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204201	NM_001101648.2(NPC1L1):c.2057T>G (p.Phe686Cys)	NPC1L1 (F686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201584	NM_001101648.2(NPC1L1):c.2021C>T (p.Ala674Val)	NPC1L1 (A674V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201583	NM_001101648.2(NPC1L1):c.1997C>T (p.Ala666Val)	NPC1L1 (A666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201582	NM_001101648.2(NPC1L1):c.1996G>A (p.Ala666Thr)	NPC1L1 (A666T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050413	NM_001101648.2(NPC1L1):c.1935G>A (p.Leu645=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3300758	NM_001101648.2(NPC1L1):c.1930T>G (p.Phe644Val)	NPC1L1 (F644V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293252	NM_001101648.2(NPC1L1):c.1922T>C (p.Ile641Thr)	NPC1L1 (I641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201581	NM_001101648.2(NPC1L1):c.1859C>T (p.Ser620Phe)	NPC1L1 (S620F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623091	NM_001101648.2(NPC1L1):c.1856G>T (p.Arg619Leu)	NPC1L1 (R619L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455686	NM_001101648.2(NPC1L1):c.1846A>G (p.Met616Val)	NPC1L1 (M616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391448	NM_001101648.2(NPC1L1):c.1817G>A (p.Arg606Gln)	NPC1L1 (R606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587949	NM_001101648.2(NPC1L1):c.1813C>T (p.Arg605Cys)	NPC1L1 (R605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300756	NM_001101648.2(NPC1L1):c.1802G>T (p.Arg601Leu)	NPC1L1 (R601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235159	NM_001101648.2(NPC1L1):c.1789T>G (p.Leu597Val)	NPC1L1 (L597V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201580	NM_001101648.2(NPC1L1):c.1753C>T (p.Arg585Cys)	NPC1L1 (R585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049659	NM_001101648.2(NPC1L1):c.1722C>T (p.Phe574=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 2316298	NM_001101648.2(NPC1L1):c.1688A>G (p.Asp563Gly)	NPC1L1 (D563G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201579	NM_001101648.2(NPC1L1):c.1676A>G (p.Tyr559Cys)	NPC1L1 (Y559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549250	NM_001101648.2(NPC1L1):c.1645C>A (p.Pro549Thr)	NPC1L1 (P549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325295	NM_001101648.2(NPC1L1):c.1613T>C (p.Leu538Pro)	NPC1L1 (L538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201578	NM_001101648.2(NPC1L1):c.1565T>G (p.Phe522Cys)	NPC1L1 (F522C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434414	NM_001101648.2(NPC1L1):c.1493G>A (p.Arg498His)	NPC1L1 (R498H)	Single nucleotide variant (missense variant)	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7	GUncertain significance
Select item 2477700	NM_001101648.2(NPC1L1):c.1417G>A (p.Ala473Thr)	NPC1L1 (A473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475464	NM_001101648.2(NPC1L1):c.1415A>G (p.Tyr472Cys)	NPC1L1 (Y472C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201577	NM_001101648.2(NPC1L1):c.1408A>G (p.Ile470Val)	NPC1L1 (I470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043386	NM_001101648.2(NPC1L1):c.1374G>A (p.Ser458=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3300754	NM_001101648.2(NPC1L1):c.1261A>G (p.Arg421Gly)	NPC1L1 (R421G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298425	NM_001101648.2(NPC1L1):c.1256G>T (p.Ser419Ile)	NPC1L1 (S419I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201576	NM_001101648.2(NPC1L1):c.1250G>A (p.Arg417Gln)	NPC1L1 (R417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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