ClinVar for Gene (Select 4864) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 2512

<< First< Prev

Page of 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242771	NC_000018.9:g.(?_21140312)_(21141981_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242770	NC_000018.9:g.(?_21115552)_(21120958_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242769	NC_000018.9:g.(?_21119346)_(21126312_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242768	NC_000018.9:g.(?_21148777)_(21153548_?)dup	NPC1	Duplication	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3242767	NC_000018.9:g.(?_21132700)_(21140464_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242766	NC_000018.9:g.(?_21132700)_(21141511_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242764	NC_000018.9:g.(?_21148767)_(21153558_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242763	NC_000018.9:g.(?_21140185)_(21166317_?)del	NPC1	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242762	NC_000018.9:g.(?_20516815)_(21534612_?)del	ANKRD29, CABLES1 +6 more	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3242177	NM_000271.5(NPC1):c.337_340dup (p.Ser114delinsMetTer)	NPC1	Duplication (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3242050	NM_000271.5(NPC1):c.955G>T (p.Gly319Ter)	NPC1 (G319*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3241987	NM_000271.5(NPC1):c.3508C>T (p.His1170Tyr)	NPC1 (H1170Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 3239460	NM_000271.5(NPC1):c.3592G>A (p.Val1198Met)	NPC1 (V1198M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3154776	NM_013326.5(RMC1):c.689A>G (p.His230Arg)	LOC126862704, NPC1 +1 more (H230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154774	NM_013326.5(RMC1):c.553G>T (p.Gly185Cys)	NPC1, RMC1 (G185C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154773	NM_013326.5(RMC1):c.542A>G (p.His181Arg)	NPC1, RMC1 (H133R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154772	NM_013326.5(RMC1):c.1451T>C (p.Met484Thr)	LOC126862705, NPC1 +1 more (M436T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154770	NM_013326.5(RMC1):c.1292C>T (p.Ala431Val)	NPC1, RMC1 (A274V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068858	NM_000271.5(NPC1):c.2599C>T (p.Pro867Ser)	NPC1 (P867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068013	NM_000271.5(NPC1):c.3609_3610del (p.Leu1204fs)	NPC1 (L1204fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3065255	NM_000271.5(NPC1):c.3680G>C (p.Arg1227Thr)	NPC1 (R1227T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3057973	NM_000271.5(NPC1):c.3592-10C>G	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3049279	NM_000271.5(NPC1):c.2131-5T>A	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3048544	NM_000271.5(NPC1):c.58-3296C>G	LOC126862706, NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3044384	NM_000271.5(NPC1):c.1554-1007G>A	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3043838	NM_000271.5(NPC1):c.464-4C>T	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3040937	NM_000271.5(NPC1):c.3591+126C>G	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3031446	NM_000271.5(NPC1):c.956-10G>T	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3031016	NM_000271.5(NPC1):c.1947+13_1947+14insGT	NPC1	Insertion (intron variant)	NPC1-related disorder	GLikely benign
Select item 3029822	NM_000271.5(NPC1):c.58-3294C>G	LOC126862706, NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder	GLikely benign
Select item 3029116	NM_000271.5(NPC1):c.1947+11_1947+12insGC	NPC1	Insertion (intron variant)	NPC1-related disorder	GLikely benign
Select item 3027381	NM_000271.5(NPC1):c.3591+1_3591+7delinsTCTT	NPC1	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 3023631	NM_000271.5(NPC1):c.738C>T (p.Val246=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3023605	NM_000271.5(NPC1):c.956-16T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022793	NM_000271.5(NPC1):c.2514+10_2514+14dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022777	NM_000271.5(NPC1):c.1947+9_1947+10insGGCGGG	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022745	NM_000271.5(NPC1):c.2430C>T (p.Val810=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022411	NM_000271.5(NPC1):c.881+15_881+18del	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022357	NM_000271.5(NPC1):c.1654+20A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3020947	NM_000271.5(NPC1):c.549C>T (p.Ala183=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3019811	NM_000271.5(NPC1):c.432A>G (p.Leu144=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3018805	NM_000271.5(NPC1):c.558C>T (p.Ala186=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3017467	NM_000271.5(NPC1):c.180+13T>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3017375	NM_000271.5(NPC1):c.3453T>A (p.Ala1151=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3016417	NM_000271.5(NPC1):c.2246-13C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3015856	NM_000271.5(NPC1):c.2246-11C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3015635	NM_000271.5(NPC1):c.3592-12C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014421	NM_000271.5(NPC1):c.956-14_956-13del	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014292	NM_000271.5(NPC1):c.2912-9C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014251	NM_000271.5(NPC1):c.882-19C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014112	NM_000271.5(NPC1):c.3246-13C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014052	NM_000271.5(NPC1):c.801C>T (p.Ala267=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3013148	NM_000271.5(NPC1):c.3754+14T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3013008	NM_000271.5(NPC1):c.3477+20_3477+25del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3012807	NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)	NPC1 (L1191V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3011375	NM_000271.5(NPC1):c.1554-18T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3009188	NM_000271.5(NPC1):c.3477+12T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3008441	NM_000271.5(NPC1):c.3041+11C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3007597	NM_000271.5(NPC1):c.3591+17G>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3007389	NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)	NPC1 (F842S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3007044	NM_000271.5(NPC1):c.1947+15G>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3006554	NM_000271.5(NPC1):c.1266A>G (p.Pro422=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3003464	NM_000271.5(NPC1):c.1947+13_1947+14insGGA	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2997101	NM_000271.5(NPC1):c.1947+17_1947+18dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2996359	NM_000271.5(NPC1):c.2605-15T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2996175	NM_000271.5(NPC1):c.181-17G>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2995895	NM_000271.5(NPC1):c.3041+8del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2992960	NM_000271.5(NPC1):c.963G>T (p.Ala321=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2987403	NC_000018.10:g.23544943_23544944insACC	NPC1	Insertion	Niemann-Pick disease, type C1	GLikely benign
Select item 2986731	NC_000018.9:g.21124907_21124908insCACC	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2985485	NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)	NPC1 (T303S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2985391	NM_000271.5(NPC1):c.1947+17T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2982774	NM_000271.5(NPC1):c.287+19A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2982298	NM_000271.5(NPC1):c.3041+17T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2982238	NM_000271.5(NPC1):c.180+11T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2981461	NM_000271.5(NPC1):c.3041+8C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2976129	NM_000271.5(NPC1):c.2373+13C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2976074	NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)	NPC1 (D948E)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2972884	NM_000271.5(NPC1):c.1757_1757+1del	NPC1	Microsatellite (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 2971011	NM_000271.5(NPC1):c.3654T>C (p.Ser1218=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2970946	NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)	NPC1 (M642I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GBenign
Select item 2969928	NM_000271.5(NPC1):c.955+17A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2965604	NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)	NPC1 (S865T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2963669	NM_000271.5(NPC1):c.3245+13dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2960674	NM_000271.5(NPC1):c.3245+12C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2959224	NM_000271.5(NPC1):c.2605-14del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GBenign
Select item 2958713	NM_000271.5(NPC1):c.2181C>G (p.Val727=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2957844	NM_000271.5(NPC1):c.3762A>G (p.Ser1254=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2955735	NC_000018.10:g.23544944_23544945insACC	NPC1	Insertion	Niemann-Pick disease, type C1	GLikely benign
Select item 2919970	NM_000271.5(NPC1):c.2796-16TGTC[3]	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2919730	NM_000271.5(NPC1):c.642C>T (p.Val214=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2919577	NM_000271.5(NPC1):c.447A>G (p.Gly149=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2919274	NM_000271.5(NPC1):c.1947+19_1947+20insGGG	NPC1	Insertion (intron variant)	NPC1-related disorder +1 more	GLikely benign
Select item 2918972	NM_000271.5(NPC1):c.631G>A (p.Asp211Asn)	NPC1 (D211N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2918399	NM_000271.5(NPC1):c.2604+9A>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2917869	NM_000271.5(NPC1):c.3754+11T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2917382	NM_000271.5(NPC1):c.180+17A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2916520	NM_000271.5(NPC1):c.3153T>C (p.Phe1051=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2915979	NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGT	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign

<< First< Prev

Page of 26