NPSR1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 2371596	NM_207172.2(NPSR1):c.32A>G (p.Asp11Gly)	NPSR1, NPSR1-AS1 (D11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290035	NM_207172.2(NPSR1):c.73G>A (p.Ala25Thr)	NPSR1, NPSR1-AS1 (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786898	NM_207172.2(NPSR1):c.148-7C>G	NPSR1, NPSR1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2192	NM_207172.2(NPSR1):c.320A>T (p.Asn107Ile)	NPSR1, NPSR1-AS1 (N107I +1 more)	Single nucleotide variant (missense variant +1 more)	Asthma-related traits, susceptibility to, 2	Grisk factor
Select item 2657383	NM_207172.2(NPSR1):c.342C>T (p.Phe114=)	NPSR1, NPSR1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 792072	NM_207172.2(NPSR1):c.345G>A (p.Thr115=)	NPSR1, NPSR1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769708	NM_207172.2(NPSR1):c.427A>G (p.Ser143Gly)	NPSR1, NPSR1-AS1 (S143G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2258496	NM_207172.2(NPSR1):c.652G>A (p.Val218Met)	NPSR1-AS1, NPSR1 (V207M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300853	NM_207172.2(NPSR1):c.658T>C (p.Phe220Leu)	NPSR1, NPSR1-AS1 (F154L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392185	NM_207172.2(NPSR1):c.794T>C (p.Ile265Thr)	NPSR1 (I199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385654	NM_207172.2(NPSR1):c.850A>G (p.Ile284Val)	NPSR1 (I273V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 2427217	NC_000007.13:g.(?_33217070)_(34888295_?)dup	BBS9, BMPER +2 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814956	GRCh37/hg19 7p14.3-14.2(chr7:34859227-35374178)x1	TBX20, NPSR1-AS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814955	GRCh37/hg19 7p14.3-14.2(chr7:34432783-35083191)x1	NPSR1-AS1, NPSR1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 590950	GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)	DPY19L1, NPSR1 +1 more	Copy number gain	Aortic valve disease 1	GUncertain significance
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 563382	GRCh37/hg19 7p14.3(chr7:34086180-34959828)x1	NPSR1-AS1, NPSR1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 35