NPR3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 3044637	NM_001364458.2(NPR3):c.50-14043G>A	NPR3	Single nucleotide variant (5 prime UTR variant +1 more)	NPR3-related disorder	GBenign
Select item 3058216	NM_001363652.2(NPR3):c.18G>A (p.Leu6=)	NPR3	Single nucleotide variant (synonymous variant +1 more)	NPR3-related disorder	GBenign
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	LOC123493284, NPR3	Single nucleotide variant (5 prime UTR variant +1 more)	NPR3-related disorder +1 more	GBenign
Select item 2203614	NM_001204375.2(NPR3):c.8C>G (p.Ser3Cys)	LOC123493284, NPR3 (S3C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1630131	NM_001204375.2(NPR3):c.30C>G (p.Ser10=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1553626	NM_001204375.2(NPR3):c.30C>T (p.Ser10=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1555828	NM_001204375.2(NPR3):c.33G>A (p.Pro11=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3201771	NM_001204375.2(NPR3):c.43C>G (p.Leu15Val)	LOC123493284, NPR3 (L15V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1949004	NM_001204375.2(NPR3):c.51G>C (p.Trp17Cys)	NPR3, LOC123493284 (W17C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1617642	NM_001204375.2(NPR3):c.54G>T (p.Ala18=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1444599	NM_001204375.2(NPR3):c.57G>C (p.Leu19Phe)	LOC123493284, NPR3 (L19F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969249	NM_001204375.2(NPR3):c.63C>G (p.Ala21=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3201772	NM_001204375.2(NPR3):c.64G>A (p.Gly22Ser)	LOC123493284, NPR3 (G22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3010541	NM_001204375.2(NPR3):c.72C>A (p.Thr24=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955357	NM_001204375.2(NPR3):c.72C>T (p.Thr24=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1983907	NM_001204375.2(NPR3):c.86_106del (p.Val29_Gly35del)	LOC123493284, NPR3	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2190864	NM_001204375.2(NPR3):c.90CGG[5] (p.Gly35_Ala36insGly)	LOC123493284, NPR3	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 1934722	NM_001204375.2(NPR3):c.91G>A (p.Gly31Ser)	LOC123493284, NPR3 (G31S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939401	NM_001204375.2(NPR3):c.101G>A (p.Gly34Asp)	LOC123493284, NPR3 (G34D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1406496	NM_001204375.2(NPR3):c.108G>A (p.Ala36=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1926696	NM_001204375.2(NPR3):c.126C>G (p.Arg42=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2012858	NM_001204375.2(NPR3):c.146C>G (p.Pro49Arg)	LOC123493284, NPR3 (P49R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2242084	NM_001204375.2(NPR3):c.157A>G (p.Ile53Val)	LOC123493284, NPR3 (I53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1369908	NM_001204375.2(NPR3):c.160G>C (p.Glu54Gln)	LOC123493284, NPR3 (E54Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416531	NM_001204375.2(NPR3):c.183G>C (p.Gln61His)	LOC123493284, NPR3 (Q61H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2840062	NM_001204375.2(NPR3):c.196T>C (p.Leu66=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1435491	NM_001204375.2(NPR3):c.218G>A (p.Arg73Gln)	LOC123493284, NPR3 (R73Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1233804	NM_001204375.2(NPR3):c.237T>C (p.Ala79=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	NPR3-related disorder +1 more	GBenign
Select item 1285631	NM_001204375.2(NPR3):c.248del (p.Val83fs)	LOC123493284, NPR3 (V83fs)	Deletion (frameshift variant +1 more)	Boudin-Mortier syndrome	GPathogenic
Select item 2034760	NM_001204375.2(NPR3):c.267G>C (p.Gly89=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2080201	NM_001204375.2(NPR3):c.272G>C (p.Arg91Pro)	LOC123493284, NPR3 (R91P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2073147	NM_001204375.2(NPR3):c.272G>T (p.Arg91Leu)	LOC123493284, NPR3 (R91L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1444170	NM_001204375.2(NPR3):c.274C>T (p.Leu92Phe)	LOC123493284, NPR3 (L92F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2804428	NM_001204375.2(NPR3):c.285G>A (p.Pro95=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3201769	NM_001204375.2(NPR3):c.287G>A (p.Gly96Asp)	LOC123493284, NPR3 (G96D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1376431	NM_001204375.2(NPR3):c.292C>G (p.Arg98Gly)	LOC123493284, NPR3 (R98G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1653973	NM_001204375.2(NPR3):c.309C>T (p.Tyr103=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1657382	NM_001204375.2(NPR3):c.330C>T (p.Asn110=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015311	NM_001204375.2(NPR3):c.342_347del (p.Phe114_Ser115del)	LOC123493284, NPR3	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3201770	NM_001204375.2(NPR3):c.354C>A (p.Asp118Glu)	LOC123493284, NPR3 (D118E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2032448	NM_001204375.2(NPR3):c.366G>A (p.Ala122=)	NPR3, LOC123493284	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2031145	NM_001204375.2(NPR3):c.387C>T (p.Asp129=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1581695	NM_001204375.2(NPR3):c.417A>G (p.Ala139=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1285628	NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro)	LOC123493284, NPR3 (S148P)	Single nucleotide variant (missense variant +1 more)	Boudin-Mortier syndrome	GLikely pathogenic
Select item 2900510	NM_001204375.2(NPR3):c.447C>T (p.His149=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784030	NM_001204375.2(NPR3):c.468G>A (p.Ser156=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1602691	NM_001204375.2(NPR3):c.516G>T (p.Ser172=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1923835	NM_001204375.2(NPR3):c.533C>A (p.Ala178Glu)	LOC123493284, NPR3 (A178E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483584	NM_001204375.2(NPR3):c.550A>T (p.Met184Leu)	LOC123493284, NPR3 (M184L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385919	NM_001204375.2(NPR3):c.583C>T (p.His195Tyr)	LOC123493284, NPR3 (H195Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906051	NM_001204375.2(NPR3):c.603A>G (p.Ala201=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2308563	NM_001204375.2(NPR3):c.626T>A (p.Leu209Gln)	LOC123493284, NPR3 (L209Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026452	NM_001204375.2(NPR3):c.658dup (p.Val220fs)	LOC123493284, NPR3 (V220fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1583943	NM_001204375.2(NPR3):c.657G>A (p.Gly219=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1387753	NM_001204375.2(NPR3):c.683G>A (p.Gly228Asp)	LOC123493284, NPR3 (G228D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1376340	NM_001204375.2(NPR3):c.688C>T (p.His230Tyr)	LOC123493284, NPR3 (H230Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1440863	NM_001204375.2(NPR3):c.692C>A (p.Thr231Lys)	LOC123493284, NPR3 (T231K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179123	NM_001204375.2(NPR3):c.693G>A (p.Thr231=)	LOC123493284, NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1496287	NM_001204375.2(NPR3):c.712G>C (p.Glu238Gln)	LOC123493284, NPR3 (E238Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2481594	NM_001204375.2(NPR3):c.743T>C (p.Val248Ala)	LOC123493284, NPR3 (V248A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1461007	NM_001204375.2(NPR3):c.760A>G (p.Ser254Gly)	LOC123493284, NPR3 (S254G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519290	NM_001204375.2(NPR3):c.763G>C (p.Glu255Gln)	LOC123493284, NPR3 (E255Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1571423	NM_001204375.2(NPR3):c.765G>A (p.Glu255=)	LOC123493284, NPR3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2714176	NM_001204375.2(NPR3):c.769+8G>C	LOC123493284, NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937092	NM_001204375.2(NPR3):c.769+17CCCGGGC[3]	LOC123493284, NPR3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1938366	NM_001204375.2(NPR3):c.769+17C>A	LOC123493284, NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926849	NM_001204375.2(NPR3):c.769+18C>G	LOC123493284, NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972763	NM_001204375.2(NPR3):c.769+20G>C	LOC123493284, NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1952102	NM_001204375.2(NPR3):c.770-10C>T	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972256	NM_001204375.2(NPR3):c.770-4C>T	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2537237	NM_001204375.2(NPR3):c.770T>C (p.Val257Ala)	NPR3 (L17S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1588631	NM_001204375.2(NPR3):c.772G>T (p.Val258Leu)	NPR3 (V18L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1649430	NM_001204375.2(NPR3):c.789C>T (p.Ser263=)	NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954865	NM_001204375.2(NPR3):c.803G>A (p.Arg268Gln)	NPR3 (R28Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3201773	NM_001204375.2(NPR3):c.820G>A (p.Ala274Thr)	NPR3 (A34T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1461257	NM_001204375.2(NPR3):c.821C>T (p.Ala274Val)	NPR3 (A34V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1599345	NM_001204375.2(NPR3):c.822G>A (p.Ala274=)	NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1585824	NM_001204375.2(NPR3):c.852C>T (p.Tyr284=)	NPR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1465756	NM_001204375.2(NPR3):c.853G>A (p.Ala285Thr)	NPR3 (A45T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3040450	NM_001204375.2(NPR3):c.888C>A (p.Ser296=)	NPR3	Single nucleotide variant (synonymous variant +1 more)	NPR3-related disorder	GLikely benign
Select item 1613740	NM_001204375.2(NPR3):c.892+16C>A	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

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