"GeneDx"[submitter] AND "NPR3"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177755	NM_001204375.2(NPR3):c.-250C>A	NPR3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1294893	NM_001204375.2(NPR3):c.-229CTTTTT[5]	NPR3	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1271999	NM_001204375.2(NPR3):c.-206_-205insC	NPR3	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1251503	NM_001204375.2(NPR3):c.-201_-200insTTTTA	NPR3	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1222371	NM_001204375.2(NPR3):c.-6G>C	NPR3, LOC123493284	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1233804	NM_001204375.2(NPR3):c.237T>C (p.Ala79=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2504337	NM_001204375.2(NPR3):c.382C>G (p.Pro128Ala)	NPR3, LOC123493284 (P128A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3376024	NM_001204375.2(NPR3):c.398G>T (p.Gly133Val)	LOC123493284, NPR3 (G133V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1247320	NM_001204375.2(NPR3):c.769+23C>T	LOC123493284, NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250731	NM_001204375.2(NPR3):c.769+180C>T	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249428	NM_001204375.2(NPR3):c.892+146T>C	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183760	NM_001204375.2(NPR3):c.893-212G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232984	NM_001204375.2(NPR3):c.893-84G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290775	NM_001204375.2(NPR3):c.893-79C>T	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260242	NM_001204375.2(NPR3):c.1059+151del	NPR3	Deletion (intron variant)	not provided	GBenign
Select item 1258730	NM_001204375.2(NPR3):c.1059+153G>T	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246641	NM_001204375.2(NPR3):c.1059+153del	NPR3	Deletion (intron variant)	not provided	GBenign
Select item 1179856	NM_001204375.2(NPR3):c.1059+165dup	NPR3	Duplication (intron variant)	not provided	GBenign
Select item 1237974	NM_001204375.2(NPR3):c.1059+155T>G	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249931	NM_001204375.2(NPR3):c.1059+161_1059+162insA	NPR3	Insertion (intron variant)	not provided	GBenign
Select item 1222046	NM_001204375.2(NPR3):c.1195+98G>T	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284220	NM_001204375.2(NPR3):c.1427-126A>G	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242895	NM_001204375.2(NPR3):c.1515-225G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240702	NM_001204375.2(NPR3):c.1564A>G (p.Asn522Asp)	NPR3 (N265D +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248525	NM_001204375.2(NPR3):c.*200A>G	NPR3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic

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Items: 27