ClinVar for Gene (Select 29881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3300756	NM_001101648.2(NPC1L1):c.1802G>T (p.Arg601Leu)	NPC1L1 (R601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3300754	NM_001101648.2(NPC1L1):c.1261A>G (p.Arg421Gly)	NPC1L1 (R421G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300753	NM_001101648.2(NPC1L1):c.422G>A (p.Arg141His)	NPC1L1 (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3300751	NM_001101648.2(NPC1L1):c.2950G>A (p.Val984Ile)	NPC1L1 (V984I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3300748	NM_001101648.2(NPC1L1):c.49C>T (p.Arg17Cys)	NPC1L1 (R17C)	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 3300746	NM_001101648.2(NPC1L1):c.199A>T (p.Thr67Ser)	NPC1L1 (T67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3201599	NM_001101648.2(NPC1L1):c.979G>A (p.Asp327Asn)	NPC1L1 (D327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201598	NM_001101648.2(NPC1L1):c.934G>C (p.Asp312His)	NPC1L1 (D312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201597	NM_001101648.2(NPC1L1):c.811G>A (p.Ala271Thr)	NPC1L1 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201596	NM_001101648.2(NPC1L1):c.776G>A (p.Cys259Tyr)	NPC1L1 (C259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201595	NM_001101648.2(NPC1L1):c.571G>A (p.Val191Met)	NPC1L1 (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201594	NM_001101648.2(NPC1L1):c.527G>A (p.Arg176His)	NPC1L1 (R176H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201593	NM_001101648.2(NPC1L1):c.458T>C (p.Val153Ala)	NPC1L1 (V153A)	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 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 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 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 3201586	NM_001101648.2(NPC1L1):c.2459C>T (p.Pro820Leu)	NPC1L1 (P820L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3201581	NM_001101648.2(NPC1L1):c.1859C>T (p.Ser620Phe)	NPC1L1 (S620F)	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 3201579	NM_001101648.2(NPC1L1):c.1676A>G (p.Tyr559Cys)	NPC1L1 (Y559C)	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 3201577	NM_001101648.2(NPC1L1):c.1408A>G (p.Ile470Val)	NPC1L1 (I470V)	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
Select item 3201575	NM_001101648.2(NPC1L1):c.1079T>C (p.Val360Ala)	NPC1L1 (V360A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055266	NM_001101648.2(NPC1L1):c.928G>T (p.Ala310Ser)	NPC1L1 (A310S)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GBenign
Select item 3053453	NM_001101648.2(NPC1L1):c.846G>A (p.Pro282=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
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 3049659	NM_001101648.2(NPC1L1):c.1722C>T (p.Phe574=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3048328	NM_001101648.2(NPC1L1):c.825C>T (p.Thr275=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
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 3042730	NM_001101648.2(NPC1L1):c.1078G>A (p.Val360Ile)	NPC1L1 (V360I)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GBenign
Select item 3041380	NM_001101648.2(NPC1L1):c.6G>A (p.Ala2=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3040474	NM_001101648.2(NPC1L1):c.1038G>A (p.Thr346=)	NPC1L1	Single nucleotide variant (synonymous variant)	NPC1L1-related disorder	GLikely benign
Select item 3038217	NM_001101648.2(NPC1L1):c.1249C>T (p.Arg417Trp)	NPC1L1 (R417W)	Single nucleotide variant (missense variant)	NPC1L1-related disorder	GLikely benign
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 3035606	NM_001101648.2(NPC1L1):c.3797-11TC[2]	NPC1L1	Microsatellite (intron variant)	NPC1L1-related disorder	GBenign
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2657435	NM_001101648.2(NPC1L1):c.661C>T (p.His221Tyr)	NPC1L1 (H221Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657434	NM_001101648.2(NPC1L1):c.811G>T (p.Ala271Ser)	NPC1L1 (A271S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657433	NM_001101648.2(NPC1L1):c.812C>T (p.Ala271Val)	NPC1L1 (A271V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657432	NM_001101648.2(NPC1L1):c.3081C>T (p.Gly1027=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2657430	NM_001101648.2(NPC1L1):c.3777C>T (p.Pro1259=)	NPC1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2619812	NM_001101648.2(NPC1L1):c.2685G>C (p.Glu895Asp)	NPC1L1 (E895D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615601	NM_001101648.2(NPC1L1):c.1037C>T (p.Thr346Met)	NPC1L1 (T346M)	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 2596091	NM_001101648.2(NPC1L1):c.2485C>T (p.Leu829Phe)	NPC1L1 (L829F)	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 2559186	NM_001101648.2(NPC1L1):c.2909A>T (p.Tyr970Phe)	NPC1L1 (Y970F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556389	NM_001101648.2(NPC1L1):c.194A>G (p.Lys65Arg)	NPC1L1 (K65R)	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 2549250	NM_001101648.2(NPC1L1):c.1645C>A (p.Pro549Thr)	NPC1L1 (P549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2541541	NM_001101648.2(NPC1L1):c.2416C>T (p.Arg806Trp)	NPC1L1 (R806W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525983	NM_001101648.2(NPC1L1):c.1111G>T (p.Val371Phe)	NPC1L1 (V371F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525969	NM_001101648.2(NPC1L1):c.1085C>T (p.Pro362Leu)	NPC1L1 (P362L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2514533	NM_001101648.2(NPC1L1):c.335G>A (p.Arg112His)	NPC1L1 (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489595	NM_001101648.2(NPC1L1):c.1103C>T (p.Ala368Val)	NPC1L1 (A368V)	Single nucleotide variant (missense variant)	not specified	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 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 2475464	NM_001101648.2(NPC1L1):c.1415A>G (p.Tyr472Cys)	NPC1L1 (Y472C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470830	NM_001101648.2(NPC1L1):c.13G>A (p.Gly5Ser)	NPC1L1 (G5S)	Single nucleotide variant (missense variant)	not specified	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 2455686	NM_001101648.2(NPC1L1):c.1846A>G (p.Met616Val)	NPC1L1 (M616V)	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 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 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	not provided	GUncertain significance
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 2391682	NM_001101648.2(NPC1L1):c.2447A>G (p.Gln816Arg)	NPC1L1 (Q816R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2391448	NM_001101648.2(NPC1L1):c.1817G>A (p.Arg606Gln)	NPC1L1 (R606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388166	NM_001101648.2(NPC1L1):c.725G>A (p.Arg242His)	NPC1L1 (R242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383151	NM_001101648.2(NPC1L1):c.1126A>T (p.Thr376Ser)	NPC1L1 (T376S)	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 2371591	NM_001101648.2(NPC1L1):c.3101C>T (p.Thr1034Ile)	NPC1L1 (T1034I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2357276	NM_001101648.2(NPC1L1):c.2951T>A (p.Val984Asp)	NPC1L1 (V984D)	Single nucleotide variant (missense variant)	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 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 2325295	NM_001101648.2(NPC1L1):c.1613T>C (p.Leu538Pro)	NPC1L1 (L538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318398	NM_001101648.2(NPC1L1):c.982A>G (p.Lys328Glu)	NPC1L1 (K328E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2314270	NM_001101648.2(NPC1L1):c.2627C>A (p.Ala876Asp)	NPC1L1 (A876D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310402	NM_001101648.2(NPC1L1):c.311C>T (p.Ser104Leu)	NPC1L1 (S104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307162	NM_001101648.2(NPC1L1):c.3137-1261C>T	NPC1L1 (S1062L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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