NPC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 153056	GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1	ANKRD29, LAMA3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 786337	NM_013326.5(RMC1):c.513G>A (p.Thr171=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 734642	NM_013326.5(RMC1):c.653+9G>A	NPC1, RMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3336056	NM_013326.5(RMC1):c.1006+12T>A	NPC1, RMC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 730421	NM_013326.5(RMC1):c.1098A>C (p.Ile366=)	RMC1, NPC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778149	NM_013326.5(RMC1):c.1230C>G (p.Ala410=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 781357	NM_013326.5(RMC1):c.1500C>T (p.Tyr500=)	LOC126862705, NPC1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 891595	NM_000271.5(NPC1):c.*718C>T	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326239	NM_000271.5(NPC1):c.*500A>G	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891596	NM_000271.5(NPC1):c.*494G>T	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326240	NM_000271.5(NPC1):c.*485dup	NPC1, RMC1	Duplication (3 prime UTR variant)	Niemann-Pick disease, type C	GUncertain significance
Select item 326241	NM_000271.5(NPC1):c.*349G>A	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C	GUncertain significance
Select item 326242	NM_000271.5(NPC1):c.*334T>A	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891597	NM_000271.5(NPC1):c.*328A>C	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891598	NM_000271.5(NPC1):c.*327C>T	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326243	NM_000271.5(NPC1):c.309_315del	NPC1	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 326244	NM_000271.5(NPC1):c.*202C>T	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326245	NM_000271.5(NPC1):c.*191C>A	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326246	NM_000271.5(NPC1):c.*164T>C	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +1 more	GBenign/Likely benign
Select item 891853	NM_000271.5(NPC1):c.*161C>T	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891854	NM_000271.5(NPC1):c.*129T>G	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326247	NM_000271.5(NPC1):c.*109T>G	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891855	NM_000271.5(NPC1):c.*94G>A	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891856	NM_000271.5(NPC1):c.*68G>A	NPC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2112582	NM_000271.5(NPC1):c.3833T>A (p.Phe1278Tyr)	NPC1 (F1278Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1966395	NM_000271.5(NPC1):c.3830A>C (p.Asn1277Thr)	NPC1 (N1277T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1497176	NM_000271.5(NPC1):c.3830A>G (p.Asn1277Ser)	NPC1 (N1277S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 742985	NM_000271.5(NPC1):c.3828A>G (p.Leu1276=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2092896	NM_000271.5(NPC1):c.3822G>C (p.Arg1274=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2110091	NM_000271.5(NPC1):c.3821G>T (p.Arg1274Leu)	NPC1 (R1274L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 539311	NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln)	NPC1 (R1274Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 181460	NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp)	NPC1 (R1274W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1399763	NM_000271.5(NPC1):c.3818A>G (p.Glu1273Gly)	NPC1 (E1273G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2190948	NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)	NPC1 (E1273K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 593992	NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1497584	NM_000271.5(NPC1):c.3815G>A (p.Arg1272His)	NPC1 (R1272H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 891857	NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)	NPC1 (R1272C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2757613	NM_000271.5(NPC1):c.3813G>A (p.Glu1271=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 593418	NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala)	NPC1 (E1271A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594215	NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln)	NPC1 (E1271Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 1094041	NM_000271.5(NPC1):c.3804A>G (p.Lys1268=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 968009	NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu)	NPC1 (K1268E)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1556684	NM_000271.5(NPC1):c.3801C>T (p.Tyr1267=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2125384	NM_000271.5(NPC1):c.3798A>C (p.Arg1266=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1036007	NM_000271.5(NPC1):c.3797_3798delinsAC (p.Arg1266His)	NPC1 (R1266H)	Indel (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1922741	NM_000271.5(NPC1):c.3797G>T (p.Arg1266Leu)	NPC1 (R1266L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 21140	NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	NPC1 (R1266Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 291193	NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val)	NPC1 (E1265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2035308	NM_000271.5(NPC1):c.3792A>G (p.Glu1264=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2193078	NM_000271.5(NPC1):c.3789T>C (p.Thr1263=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2428000	NM_000271.5(NPC1):c.3787A>C (p.Thr1263Pro)	NPC1 (T1263P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 596603	NM_000271.5(NPC1):c.3783dup (p.Ala1262fs)	NPC1 (A1262fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 551620	NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del)	NPC1 (C1261del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GUncertain significance
Select item 557816	NM_000271.5(NPC1):c.3778del (p.Ser1260fs)	NPC1 (S1260fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1482703	NM_000271.5(NPC1):c.3773C>A (p.Ala1258Asp)	NPC1 (A1258D)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 289812	NM_000271.5(NPC1):c.3773C>T (p.Ala1258Val)	NPC1 (A1258V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 557536	NM_000271.5(NPC1):c.3772del (p.Ala1258fs)	NPC1 (A1258fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 552951	NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs)	NPC1 (K1257fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2009135	NM_000271.5(NPC1):c.3768T>C (p.Asn1256=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1421733	NM_000271.5(NPC1):c.3763G>A (p.Val1255Ile)	NPC1 (V1255I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
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 808370	NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr)	NPC1 (S1254T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GUncertain significance
Select item 2125481	NM_000271.5(NPC1):c.3759A>G (p.Pro1253=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1947051	NM_000271.5(NPC1):c.3756G>A (p.Gly1252=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1347602	NM_000271.5(NPC1):c.3755-3T>C	NPC1	Single nucleotide variant (intron variant)	NPC1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 702825	NM_000271.5(NPC1):c.3755-16TC[7]	NPC1	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2125259	NM_000271.5(NPC1):c.3755-5C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1396968	NM_000271.5(NPC1):c.3755-16TC[4]	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326248	NM_000271.5(NPC1):c.3755-16TC[5]	NPC1	Microsatellite (intron variant)	NPC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1574369	NM_000271.5(NPC1):c.3755-7C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1968529	NM_000271.5(NPC1):c.3755-12T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2731158	NM_000271.5(NPC1):c.3755-13C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1611423	NM_000271.5(NPC1):c.3755-22_3755-17del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2418775	NM_000271.5(NPC1):c.3755-18del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1616246	NM_000271.5(NPC1):c.3755-19_3755-18del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 1191839	NM_000271.5(NPC1):c.3755-72G>T	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 633341	NM_000271.5(NPC1):c.3243_3755-94del	NPC1	Deletion (splice acceptor variant +1 more)	Niemann-Pick disease, type C	GLikely pathogenic
Select item 1201385	NM_000271.5(NPC1):c.3754+203G>T	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197311	NM_000271.5(NPC1):c.3754+108T>G	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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