NPL[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 2614688	NM_030769.3(NPL):c.35T>C (p.Val12Ala)	NPL (V12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049662	NM_030769.3(NPL):c.133A>G (p.Asn45Asp)	NPL (N45D)	Single nucleotide variant (5 prime UTR variant +1 more)	NPL-related condition	GLikely benign
Select item 2256758	NM_030769.3(NPL):c.137T>G (p.Ile46Ser)	NPL (I46S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639619	NM_030769.3(NPL):c.253G>A (p.Val85Ile)	NPL (V66I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784449	NM_030769.3(NPL):c.354A>G (p.Pro118=)	NPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593149	NM_030769.3(NPL):c.400G>A (p.Ala134Thr)	NPL (A134T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351757	NM_030769.3(NPL):c.461G>A (p.Arg154His)	NPL (R135H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206371	NM_030769.3(NPL):c.493A>G (p.Lys165Glu)	NPL (K165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322380	NM_030769.3(NPL):c.495G>T (p.Lys165Asn)	NPL (K165N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639620	NM_030769.3(NPL):c.551A>G (p.Gln184Arg)	NPL (Q165R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780285	NM_030769.3(NPL):c.579G>A (p.Gln193=)	NPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 252566	NM_030769.3(NPL):c.598G>A (p.Val200Met)	NPL (V181M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2293254	NM_030769.3(NPL):c.668T>G (p.Leu223Arg)	NPL (L204R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545964	NM_030769.3(NPL):c.698C>T (p.Ala233Val)	NPL (A233V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 712092	NM_030769.3(NPL):c.738+7G>A	NPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2462002	NM_030769.3(NPL):c.832A>G (p.Met278Val)	NPL (M278V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1675397	NM_030769.3(NPL):c.*708C>A	LOC129932069, NPL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	AXDND1, CACNA1E +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 624465	GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1	DHX9, GLUL +9 more	Copy number loss	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 46