"Counsyl"[submitter] AND "NPC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 555325	NM_000271.5(NPC1):c.3754+3A>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 557711	NM_000271.5(NPC1):c.3754+1G>C	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 552085	NM_000271.5(NPC1):c.3754+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 550981	NM_000271.5(NPC1):c.3754+1G>A	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 555483	NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)	NPC1 (S1249G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 487441	NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)	NPC1 (L1248fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 419641	NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)	NPC1 (P1245fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558037	NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs)	NPC1 (Q1222fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
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 188747	NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)	NPC1 (T1205K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 556189	NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs)	NPC1 (T1205fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 550558	NM_000271.5(NPC1):c.3592-1G>C	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 558202	NM_000271.5(NPC1):c.3592-7_3592-3del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 551545	NM_000271.5(NPC1):c.3591+2T>C	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
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 371037	NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)	NPC1 (E1189G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 551716	NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup)	NPC1	Duplication (inframe_insertion)	Niemann-Pick disease, type C1	GUncertain significance
Select item 552331	NM_000271.5(NPC1):c.3562del (p.Glu1188fs)	NPC1 (E1188fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 556002	NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)	NPC1 (A1187V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 189174	NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	NPC1 (R1186H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557570	NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs)	NPC1 (M1179fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 502274	NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)	NPC1 (C1168Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557024	NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)	NPC1 (F1167C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GConflicting classifications of pathogenicity
Select item 550213	NM_000271.5(NPC1):c.3477+14C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 552768	NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)	NPC1 (N1156I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 557189	NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)	NPC1 (L1154*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 551573	NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys)	NPC1 (N1150K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
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 370636	NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs)	NPC1 (F1139fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 92712	NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	NPC1 (V1115F)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +3 more	GConflicting classifications of pathogenicity
Select item 371282	NM_000271.5(NPC1):c.3325del (p.Ile1109fs)	NPC1 (I1109fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 326251	NM_000271.5(NPC1):c.3312G>A (p.Val1104=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 371340	NM_000271.5(NPC1):c.3309dup (p.Val1104fs)	NPC1 (V1104fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 181458	NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)	NPC1 (E1089K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 555143	NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)	NPC1 (F1087L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 281939	NM_000271.5(NPC1):c.3246-2A>G	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 289257	NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)	NPC1 (R1077*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 188769	NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	NPC1 (R1059*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 550833	NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)	NPC1 (L1045P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2958	NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	NPC1 (T1036M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2972	NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	NPC1 (A1035V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 371419	NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)	NPC1 (Y1019C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
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 2963	NM_000271.5(NPC1):c.3042-2del	NPC1	Deletion (splice acceptor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 557421	NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys)	NPC1 (G1012C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 326253	NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	NPC1 (S1004L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 554174	NM_000271.5(NPC1):c.2987T>G (p.Met996Arg)	NPC1 (M996R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 553225	NM_000271.5(NPC1):c.2978dup (p.Asp994fs)	NPC1 (D994fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 21137	NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	NPC1 (G992R)	Single nucleotide variant (missense variant)	not provided +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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188932	NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	NPC1 (Q991fs)	Deletion (frameshift variant)	NPC1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 555442	NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)	NPC1 (R989fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 2976	NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	NPC1 (R978C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic/Likely pathogenic
Select item 557355	NM_000271.5(NPC1):c.2911+1del	NPC1	Deletion (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 553623	NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs)	NPC1 (S970fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 554989	NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)	NPC1 (N968S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GConflicting classifications of pathogenicity
Select item 188956	NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)	NPC1 (Q965*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 252475	NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	NPC1 (N961S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 287837	NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)	NPC1 (R958*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1 +3 more	GPathogenic
Select item 181457	NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	NPC1 (S954L)	Single nucleotide variant (missense variant)	NPC1-related condition +3 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 552987	NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)	NPC1 (D948N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 189117	NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)	NPC1 (R934Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 552715	NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)	NPC1 (A927V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 370581	NM_000271.5(NPC1):c.2775del (p.Asn925fs)	NPC1 (N925fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 189033	NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)	NPC1 (Q922*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 188849	NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	NPC1 (Q921*)	Single nucleotide variant (nonsense)	NPC1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 268187	NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)	NPC1 (G910S)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 557930	NM_000271.5(NPC1):c.2712del (p.Gln905fs)	NPC1 (Q905fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1 +1 more	GLikely pathogenic
Select item 551834	NM_000271.5(NPC1):c.2683dup (p.Glu895fs)	NPC1 (E895fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 495788	NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)	NPC1 (Y890*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 194810	NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	NPC1 (D874V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +4 more	GPathogenic/Likely pathogenic
Select item 556263	NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)	NPC1 (M866T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 370184	NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)	NPC1 (Y825C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550101	NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)	NPC1 (L817fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 554973	NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)	NPC1 (R789C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 557126	NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu)	NPC1 (F779L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 556699	NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu)	NPC1 (A745E)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 132896	NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)	NPC1 (V744fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 557565	NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys)	NPC1 (E742K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
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 372775	NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)	NPC1 (S734I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 92706	NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	NPC1 (P733fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 557400	NM_000271.5(NPC1):c.2131-2_2131del	NPC1	Deletion (splice acceptor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 552803	NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)	NPC1 (P691L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554148	NM_000271.5(NPC1):c.2018G>T (p.Gly673Val)	NPC1 (G673V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 370601	NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	NPC1 (V664M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic/Likely pathogenic
Select item 558673	NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser)	NPC1 (G660S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 557054	NM_000271.5(NPC1):c.1948-1G>A	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 554364	NM_000271.5(NPC1):c.1948-2A>T	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 281945	NM_000271.5(NPC1):c.1947+5G>C	NPC1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 555492	NM_000271.5(NPC1):c.1947+2T>A	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 189181	NM_000271.5(NPC1):c.1947+2T>G	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 553366	NM_000271.5(NPC1):c.1947+1G>A	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GLikely pathogenic

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