C3179455[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 64

	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 487441	NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)	NPC1 (L1248fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic/Likely pathogenic
Select item 1696118	NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser)	NPC1 (L1230S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
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 289808	NM_000271.5(NPC1):c.3592-7_3592-5del	NPC1	Microsatellite (intron variant)	not provided +1 more	GUncertain significance
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 499348	NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)	NPC1 (A1187T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502703	NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
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 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 2967	NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	NPC1 (I1061T)	Single nucleotide variant (missense variant)	Sphingomyelin/cholesterol lipidosis +4 more	GPathogenic
Select item 1413936	NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met)	NPC1 (L1055M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
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 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 2966	NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	NPC1 (P1007A)	Single nucleotide variant (missense variant)	Cataplexy +9 more	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 1393946	NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr)	NPC1 (F966Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
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 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 194809	NM_000271.5(NPC1):c.2795+19T>C	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 188849	NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	NPC1 (Q921*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1 +3 more	GPathogenic/Likely pathogenic
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 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 498823	NM_000271.5(NPC1):c.2598G>T (p.Met866Ile)	NPC1 (M866I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 1358843	NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro)	NPC1 (S826P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
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 287771	NM_000271.5(NPC1):c.2257G>A (p.Val753Met)	NPC1 (V753M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1387257	NM_000271.5(NPC1):c.2179del (p.Val727fs)	NPC1 (V727fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 326265	NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)	NPC1 (R711G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 194159	NM_000271.5(NPC1):c.2103C>T (p.Asn701=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1543031	NM_000271.5(NPC1):c.1947+13G>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 495787	NM_000271.5(NPC1):c.1947+10G>T	NPC1	Single nucleotide variant (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 92701	NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)	NPC1 (M642I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1409658	NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp)	NPC1 (N572D)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 996941	NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys)	NPC1 (Y571C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 181455	NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	NPC1 (P543L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
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 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 1209615	NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu)	NPC1 (S425L)	Single nucleotide variant (missense variant)	NPC1-related disorder +1 more	GUncertain significance
Select item 281031	NM_000271.5(NPC1):c.1221G>C (p.Gln407His)	NPC1 (Q407H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 188794	NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)	NPC1 (R404Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GPathogenic
Select item 992159	NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)	NPC1 (C334S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 702571	NM_000271.5(NPC1):c.882-40T>A	NPC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 289805	NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)	NPC1 (W291C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance
Select item 1038948	NM_000271.5(NPC1):c.749A>C (p.Lys250Thr)	NPC1 (K250T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1399411	NM_000271.5(NPC1):c.631+3A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 197651	NM_000271.5(NPC1):c.612C>T (p.Thr204=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 970033	NM_000271.5(NPC1):c.553A>G (p.Asn185Asp)	NPC1 (N185D)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 181450	NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)	NPC1 (A183T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity
Select item 497961	NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)	NPC1 (A181T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 497771	NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)	NPC1 (G149R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 597904	NM_000271.5(NPC1):c.89A>T (p.Glu30Val)	NPC1 (E30V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1587631	NM_000271.5(NPC1):c.30C>T (p.Leu10=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 555997	NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)	NPC1 (A3T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance

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Items: 64