"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21140	NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	NPC1 (R1266Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GBenign
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 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 518274	NM_000271.5(NPC1):c.3477+19T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GBenign/Likely benign
Select item 508626	NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 92712	NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	NPC1 (V1115F)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity
Select item 92710	NM_000271.5(NPC1):c.3246-20G>A	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 2966	NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	NPC1 (P1007A)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 326254	NM_000271.5(NPC1):c.2973G>A (p.Gln991=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194809	NM_000271.5(NPC1):c.2795+19T>C	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 518275	NM_000271.5(NPC1):c.2604+14_2604+16del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
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 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 753277	NM_000271.5(NPC1):c.2268C>T (p.Ala756=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +1 more	GLikely benign
Select item 558884	NM_000271.5(NPC1):c.2131-21dup	NPC1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
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 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 1157450	NM_000271.5(NPC1):c.1947+8_1947+12dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 931815	NM_000271.5(NPC1):c.1947+17T>G	NPC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 518276	NM_000271.5(NPC1):c.1947+8_1947+9dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GBenign
Select item 418387	NM_000271.5(NPC1):c.1947+8_1947+10dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1 +1 more	GBenign
Select item 193982	NM_000271.5(NPC1):c.1947+8dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1 +1 more	GBenign/Likely benign
Select item 92703	NM_000271.5(NPC1):c.1947+8_1947+11dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GBenign/Likely benign
Select item 522362	NM_000271.5(NPC1):c.1947+16del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GBenign
Select item 92704	NM_000271.5(NPC1):c.1947+14G>T	NPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 281050	NM_000271.5(NPC1):c.1947+10G>A	NPC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 provided +2 more	GBenign
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 92700	NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)	NPC1 (P434S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 281049	NM_000271.5(NPC1):c.1071G>A (p.Ser357=)	NPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 288150	NM_000271.5(NPC1):c.1011G>T (p.Arg337=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 326274	NM_000271.5(NPC1):c.966C>T (p.Ser322=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 21142	NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	NPC1 (P237S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92714	NM_000271.5(NPC1):c.644A>G (p.His215Arg)	NPC1 (H215R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GBenign
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 471944	NM_000271.5(NPC1):c.540C>T (p.Asp180=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 378276	NM_000271.5(NPC1):c.463+19A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1 +1 more	GBenign/Likely benign
Select item 129811	NM_000271.5(NPC1):c.387T>C (p.Tyr129=)	NPC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 579540	NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)	NPC1 (Y102*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1 +1 more	GPathogenic
Select item 593342	NM_000271.5(NPC1):c.180G>T (p.Gln60His)	NPC1 (Q60H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 1209953	NM_000271.5(NPC1):c.127G>A (p.Glu43Lys)	NPC1 (E43K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 255701	NM_000271.5(NPC1):c.66A>G (p.Ser22=)	NPC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

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Items: 50