C3179455[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705799	NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)	NPC1 (P1245fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705797	NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)	NPC1 (T1205I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705796	NM_000271.5(NPC1):c.3559del (p.Ala1187fs)	NPC1 (A1187fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
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 1705795	NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)	NPC1 (S1164P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705793	NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)	NPC1 (M1138fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705791	NM_000271.5(NPC1):c.3347del (p.Leu1116fs)	NPC1 (L1116fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705790	NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)	NPC1 (S1105Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705789	NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)	NPC1 (I1095del)	Microsatellite (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705788	NM_000271.5(NPC1):c.3281del (p.Ile1094fs)	NPC1 (I1094fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705787	NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)	NPC1 (E1089Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 984317	NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)	NPC1 (Y1085*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 1705786	NM_000271.4(NPC1):c.3249_3250del	NPC1	Microsatellite	Niemann-Pick disease, type C1	GPathogenic
Select item 1705785	NM_000271.5(NPC1):c.3245+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705784	NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)	NPC1 (I1052del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705782	NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)	NPC1 (R1032fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705781	NM_000271.5(NPC1):c.3041+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705780	NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)	NPC1	Indel (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 973559	NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)	NPC1 (P1007L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705779	NM_000271.5(NPC1):c.3003del (p.Met1001fs)	NPC1 (M1001fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
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 1705778	NM_000271.5(NPC1):c.2908dup (p.Ser970fs)	NPC1 (S970fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705777	NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)	NPC1	Indel (inframe_indel)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 974870	NM_000271.5(NPC1):c.2795+56C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705776	NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)	NPC1 (Q928*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 181456	NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)	NPC1 (A926V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1705775	NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)	NPC1 (F924L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705774	NM_000271.5(NPC1):c.2758G>A (p.Val920Met)	NPC1 (V920M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705773	NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)	NPC1 (M912fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705771	NM_000271.5(NPC1):c.2719del (p.Met907fs)	NPC1 (M907fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705770	NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)	NPC1 (Y899H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705769	NM_000271.5(NPC1):c.2647del (p.Leu883fs)	NPC1 (L883fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705768	NM_000271.5(NPC1):c.2612del (p.Tyr871fs)	NPC1 (Y871fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 973558	NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)	NPC1 (S870T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705767	NM_000271.5(NPC1):c.2604+2T>G	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705766	NM_000271.5(NPC1):c.2515-2A>G	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1326279	NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)	NPC1 (R789G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705765	NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)	NPC1 (L720fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705764	NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)	NPC1 (Q716*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 1705763	NM_000271.4(NPC1):c.2134_2135del	NPC1	Microsatellite	Niemann-Pick disease, type C1	GPathogenic
Select item 1705762	NM_000271.5(NPC1):c.2130+1G>C	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705760	NM_000271.5(NPC1):c.2086del (p.Ala696fs)	NPC1 (A696fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 1705759	NM_000271.5(NPC1):c.2077del (p.Leu693fs)	NPC1 (L693fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705758	NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)	NPC1 (S676I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705757	NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)	NPC1 (Y594del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705755	NM_000271.5(NPC1):c.1757+2_1757+3del	NPC1	Deletion (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705756	NM_000271.5(NPC1):c.1757+2T>G	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705754	NM_000271.5(NPC1):c.1757+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705753	NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)	NPC1 (W583fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705752	NM_000271.5(NPC1):c.1654+1dup	NPC1	Duplication (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 556403	NM_000271.5(NPC1):c.1628del (p.Pro543fs)	NPC1 (P543fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1705817	NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)	NPC1 (F542fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705751	NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)	NPC1 (G539R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705816	NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)	NPC1 (F504del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705815	NM_000271.5(NPC1):c.1451del (p.Val484fs)	NPC1 (V484fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705805	NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)	NPC1 (Q447K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705794	NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)	NPC1 (V429G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705783	NM_000271.5(NPC1):c.1238dup (p.Leu414fs)	NPC1 (L414fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705772	NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)	NPC1 (F395fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705761	NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)	NPC1 (V371fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 973557	NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)	NPC1 (S366*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705750	NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)	NPC1 (T362fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705814	NM_000271.5(NPC1):c.924_927del (p.Asn308fs)	NPC1 (N308fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705813	NM_000271.5(NPC1):c.895del (p.Val299fs)	NPC1 (V299fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705812	NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)	NPC1	Duplication (inframe_insertion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705811	NM_000271.5(NPC1):c.762del (p.Pro255fs)	NPC1 (P255fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705809	NM_000271.5(NPC1):c.749_755del (p.Lys250fs)	NPC1 (K250fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705810	NM_000271.5(NPC1):c.754del (p.Gln252fs)	NPC1 (Q252fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705808	NM_000271.5(NPC1):c.692_693del (p.Val231fs)	NPC1 (V231fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705807	NM_000271.5(NPC1):c.574T>C (p.Tyr192His)	NPC1 (Y192H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 1705806	NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)	NPC1 (C184S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 1705804	NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)	NPC1 (G178R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705803	NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)	NPC1 (C177R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705802	NM_000271.5(NPC1):c.497C>A (p.Pro166His)	NPC1 (P166H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705801	NM_000271.5(NPC1):c.428_429del (p.Glu143fs)	NPC1 (E143fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705800	NM_000271.5(NPC1):c.392dup (p.Asp131fs)	NPC1 (D131fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705798	NM_000271.5(NPC1):c.370dup (p.Thr124fs)	NPC1 (T124fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705792	NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)	NPC1 (C113Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic

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Items: 78