"Natera, Inc."[submitter] AND "NPC1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 21140	NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	NPC1 (R1266Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 419641	NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)	NPC1 (P1245fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 593756	NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282371	NM_000271.5(NPC1):c.3717C>T (p.His1239=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity
Select item 715089	NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 889411	NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)	NPC1 (I1223V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 558706	NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)	NPC1 (V1212L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 284662	NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)	NPC1 (S1200G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2973	NM_000271.5(NPC1):c.3591+1G>A	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 211683	NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 556002	NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)	NPC1 (A1187V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +3 more	GUncertain significance
Select item 189174	NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	NPC1 (R1186H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +2 more	GPathogenic/Likely pathogenic
Select item 594562	NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)	NPC1 (R1183H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 663971	NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met)	NPC1 (T1176M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 195723	NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)	NPC1 (V1165M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic
Select item 284996	NM_000271.5(NPC1):c.3477+4A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +3 more	GBenign/Likely benign
Select item 568770	NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)	NPC1 (A1151T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 326249	NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 372435	NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	NPC1 (M1142T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92711	NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 547997	NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	NPC1 (I1094T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 281939	NM_000271.5(NPC1):c.3246-2A>G	NPC1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 594711	NM_000271.5(NPC1):c.3246-8C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity
Select item 255696	NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)	NPC1 (G1073S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity
Select item 92709	NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +3 more	GConflicting classifications of pathogenicity
Select item 2967	NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	NPC1 (I1061T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +4 more	GPathogenic
Select item 188769	NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	NPC1 (R1059*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 597412	NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)	NPC1 (V1044M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 2958	NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	NPC1 (T1036M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 2972	NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	NPC1 (A1035V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992155	NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr)	NPC1 (H1029Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 452564	NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)	NPC1 (S1020T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 552643	NM_000271.5(NPC1):c.3042-1G>A	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2966	NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	NPC1 (P1007A)	Single nucleotide variant (missense variant)	Cataplexy +9 more	GPathogenic
Select item 326253	NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	NPC1 (S1004L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1026548	NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)	NPC1 (M1001V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 21137	NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	NPC1 (G992R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 2969	NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	NPC1 (G992R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2960	NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	NPC1 (G992W)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic/Likely pathogenic
Select item 188932	NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	NPC1 (Q991fs)	Deletion (frameshift variant)	NPC1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 966848	NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)	NPC1 (P984L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 252475	NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	NPC1 (N961S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 181457	NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	NPC1 (S954L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +2 more	GPathogenic
Select item 372774	NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)	NPC1 (V950G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2971	NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	NPC1 (V950M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 539312	NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)	NPC1 (D945N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GConflicting classifications of pathogenicity
Select item 188716	NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	NPC1 (S940L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic/Likely pathogenic
Select item 917636	NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)	NPC1 (R934*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C +2 more	GPathogenic
Select item 21136	NM_000271.5(NPC1):c.2793C>T (p.Asn931=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 326257	NM_000271.5(NPC1):c.2775C>T (p.Asn925=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 374343	NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)	NPC1 (N916S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181452	NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)	NPC1 (G911S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 440008	NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)	NPC1 (D898N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GUncertain significance
Select item 326259	NM_000271.5(NPC1):c.2661G>A (p.Pro887=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 838284	NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)	NPC1 (A885V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 194810	NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	NPC1 (D874V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 967661	NM_000271.5(NPC1):c.2596A>G (p.Met866Val)	NPC1 (M866V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 21135	NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)	NPC1 (I858V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 499258	NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	NPC1 (F842L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92707	NM_000271.5(NPC1):c.2514+6C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 751539	NM_000271.5(NPC1):c.2508A>G (p.Pro836=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 326260	NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)	NPC1 (M834T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 499327	NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)	NPC1 (V810F)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 326262	NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)	NPC1 (L783F)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 766173	NM_000271.5(NPC1):c.2347T>C (p.Leu783=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 21134	NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)	NPC1 (Q775P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic
Select item 992156	NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly)	NPC1 (A767G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 593560	NM_000271.5(NPC1):c.2292G>A (p.Ala764=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 326264	NM_000271.5(NPC1):c.2269G>A (p.Val757Met)	NPC1 (V757M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 744735	NM_000271.5(NPC1):c.2246-6C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 242482	NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)	NPC1 (S738*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 92706	NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	NPC1 (P733fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 522212	NM_000271.5(NPC1):c.2131-5_2131-4del	NPC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 403254	NM_000271.5(NPC1):c.2131-4del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1 +2 more	GBenign
Select item 754325	NM_000271.5(NPC1):c.2130+10C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 766085	NM_000271.5(NPC1):c.2088T>C (p.Ala696=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +1 more	GLikely benign
Select item 992157	NM_000271.5(NPC1):c.2079G>A (p.Leu693=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 194158	NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 766432	NM_000271.5(NPC1):c.2055T>C (p.Ile685=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 370601	NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	NPC1 (V664M)	Single nucleotide variant (missense variant)	NPC1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 499337	NM_000271.5(NPC1):c.1947+9_1947+10insGGAG	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 92702	NM_000271.5(NPC1):c.1947+10G>C	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 284646	NM_000271.5(NPC1):c.1947+7_1947+8insCGGG	NPC1	Insertion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 92701	NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)	NPC1 (M642I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 842695	NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)	NPC1 (G640R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 751540	NM_000271.5(NPC1):c.1869C>T (p.Thr623=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 501524	NM_000271.5(NPC1):c.1819C>A (p.Arg607=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 265495	NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)	NPC1 (R607*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 500953	NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)	NPC1 (A521S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553804	NM_000271.5(NPC1):c.1554-1009G>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 558888	NM_000271.5(NPC1):c.1554-1021A>T	NPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218105	NM_000271.5(NPC1):c.1554-1057G>C	NPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 550874	NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)	NPC1 (R518W)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 199001	NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)	NPC1 (T511M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 199002	NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 493233	NM_000271.5(NPC1):c.1480G>A (p.Val494Met)	NPC1 (V494M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 741163	NM_000271.5(NPC1):c.1479C>T (p.Ser493=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 539310	NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	NPC1 (C479Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500155	NM_000271.5(NPC1):c.1431G>A (p.Thr477=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2