"GeneDx"[submitter] AND "NPC2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 314236	NM_006432.5(NPC2):c.*271C>T	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +1 more	GBenign/Likely benign
Select item 1202055	NM_006432.5(NPC2):c.*252del	NPC2, SYNDIG1L	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1300451	NM_006432.5(NPC2):c.*154G>A	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 502347	NM_006432.5(NPC2):c.*9T>C	NPC2	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 197788	NM_006432.5(NPC2):c.442-4A>C	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2 +3 more	GBenign/Likely benign
Select item 1213457	NM_006432.5(NPC2):c.442-101G>T	NPC2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1209325	NM_006432.5(NPC2):c.441+193dup	NPC2	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1218591	NM_006432.5(NPC2):c.441+68C>T	NPC2 (T170I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 100734	NM_006432.5(NPC2):c.441+1G>A	ACYP1, NPC2 (V148I)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 680699	NM_006432.5(NPC2):c.363+154A>G	NPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680698	NM_006432.5(NPC2):c.363+117_363+118insAGC	NPC2	Insertion (intron variant)	not provided	GBenign
Select item 377030	NM_006432.5(NPC2):c.292A>C (p.Asn98His)	NPC2 (N98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 290576	NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)	NPC2 (D91N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2 +2 more	GUncertain significance
Select item 1303422	NM_006432.5(NPC2):c.262C>T (p.Pro88Ser)	NPC2 (P88S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2 +1 more	GUncertain significance
Select item 314239	NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)	NPC2 (K71R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +3 more	GUncertain significance
Select item 1293857	NM_006432.5(NPC2):c.191-186T>G	NPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225070	NM_006432.5(NPC2):c.191-187_191-186insG	NPC2	Insertion (intron variant)	not provided	GBenign
Select item 1203623	NM_006432.5(NPC2):c.191-187_191-186insTTG	NPC2	Insertion (intron variant)	not provided	GLikely benign
Select item 1199531	NM_006432.5(NPC2):c.191-260G>A	NPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259982	NM_006432.5(NPC2):c.190+14G>A	NPC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 183281	NM_006432.5(NPC2):c.88G>A (p.Val30Met)	NPC2, ACYP1 (V30M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2 +2 more	GBenign/Likely benign
Select item 1197826	NM_006432.5(NPC2):c.82+295G>A	NPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195690	NM_006432.4(NPC2):c.-162T>C	LOC130056094, NPC2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1282759	NC_000014.9:g.74493671_74493672del	NPC2	Deletion	not provided	GBenign
Select item 3376048	NC_000014.9:g.74493800T>A	ISCA2, LOC130056095 +1 more (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 26