ClinVar for Gene (Select 4883) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300848	NM_001204375.2(NPR3):c.714G>T (p.Glu238Asp)	LOC123493284, NPR3 (E238D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300847	NM_001204375.2(NPR3):c.961A>T (p.Thr321Ser)	NPR3 (T81S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300846	NM_001204375.2(NPR3):c.598G>T (p.Ala200Ser)	LOC123493284, NPR3 (A200S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300845	NM_001204375.2(NPR3):c.799A>C (p.Ile267Leu)	NPR3 (I27L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300844	NM_001204375.2(NPR3):c.128A>T (p.Gln43Leu)	LOC123493284, NPR3 (Q43L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246424	NC_000005.9:g.(?_32355866)_(32786451_?)del	NPR3, SUB1 +1 more	Deletion	Pure or complex autosomal recessive spastic paraplegia	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 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 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 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 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 3201768	NM_001204375.2(NPR3):c.1273G>A (p.Glu425Lys)	NPR3 (E185K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201767	NM_001204375.2(NPR3):c.1132G>A (p.Ala378Thr)	NPR3 (A162T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3046626	NM_001204375.2(NPR3):c.1290+8C>T	NPR3	Single nucleotide variant (intron variant)	NPR3-related disorder	GLikely benign
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 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 3026452	NM_001204375.2(NPR3):c.658dup (p.Val220fs)	LOC123493284, NPR3 (V220fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3024555	NM_001204375.2(NPR3):c.691_692del (p.Thr231fs)	LOC123493284, NPR3 (T231fs)	Microsatellite (frameshift variant +1 more)	Boudin-Mortier syndrome	GLikely pathogenic
Select item 3020179	NM_001204375.2(NPR3):c.1227C>T (p.Asn409=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2998366	NM_001204375.2(NPR3):c.1291-6A>G	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994182	NM_001204375.2(NPR3):c.1470G>T (p.Gly490=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989855	NM_001204375.2(NPR3):c.1515-17A>G	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 2972256	NM_001204375.2(NPR3):c.770-4C>T	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971149	NM_001204375.2(NPR3):c.1291-5T>A	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956668	NM_001204375.2(NPR3):c.1515-16C>T	NPR3	Single nucleotide variant (intron variant)	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 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 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 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 2807412	NM_001204375.2(NPR3):c.1107C>T (p.Val369=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2797721	NM_001204375.2(NPR3):c.1206G>A (p.Gly402=)	NPR3	Single nucleotide variant (synonymous variant)	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 2747472	NM_001204375.2(NPR3):c.893-10T>C	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727177	NM_001204375.2(NPR3):c.1059+7G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725969	NM_001204375.2(NPR3):c.1302T>C (p.Asp434=)	NPR3	Single nucleotide variant (synonymous variant)	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 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	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 2556822	NM_001204375.2(NPR3):c.1412C>T (p.Ser471Phe)	NPR3 (S214F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2480639	NM_001204375.2(NPR3):c.1441G>C (p.Glu481Gln)	NPR3 (E265Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478834	NM_001204375.2(NPR3):c.1451T>C (p.Val484Ala)	NPR3 (V244A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423435	NC_000005.9:g.(?_32355866)_(32786451_?)dup	SUB1, NPR3 +1 more	Duplication	not provided	GUncertain significance
Select item 2338103	NM_001204375.2(NPR3):c.1322G>A (p.Arg441His)	NPR3 (R225H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334898	NM_001204375.2(NPR3):c.1222G>A (p.Ala408Thr)	NPR3 (A408T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312854	NM_001204375.2(NPR3):c.1095C>G (p.Ile365Met)	NPR3 (I108M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2190864	NM_001204375.2(NPR3):c.90CGG[5] (p.Gly35_Ala36insGly)	LOC123493284, NPR3	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2187227	NM_001204375.2(NPR3):c.1566C>T (p.Asn522=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181723	NM_001204375.2(NPR3):c.1162A>G (p.Ile388Val)	NPR3 (I388V +3 more)	Single nucleotide variant (missense variant)	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 2174547	NM_001204375.2(NPR3):c.1169A>G (p.Gln390Arg)	NPR3 (Q390R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170859	NM_001204375.2(NPR3):c.951G>A (p.Ser317=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158660	NM_001204375.2(NPR3):c.1099C>T (p.Leu367Phe)	NPR3 (L151F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158659	NM_001204375.2(NPR3):c.1097T>C (p.Leu366Pro)	NPR3 (L150P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132140	NM_001204375.2(NPR3):c.1416C>G (p.Pro472=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104416	NM_001204375.2(NPR3):c.1290+14A>C	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095227	NM_001204375.2(NPR3):c.1221T>G (p.Asp407Glu)	NPR3 (D407E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088980	NM_001204375.2(NPR3):c.1195+5G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2045457	NM_001204375.2(NPR3):c.1080A>G (p.Gly360=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2033243	NM_001204375.2(NPR3):c.1290+20G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2015311	NM_001204375.2(NPR3):c.342_347del (p.Phe114_Ser115del)	LOC123493284, NPR3	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2014056	NM_001204375.2(NPR3):c.1582G>A (p.Glu528Lys)	NPR3 (E288K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2011002	NM_001204375.2(NPR3):c.1514+9G>C	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996891	NM_001204375.2(NPR3):c.1196-7C>A	NPR3	Single nucleotide variant (intron variant)	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 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 1967321	NM_001204375.2(NPR3):c.1496T>A (p.Met499Lys)	NPR3 (M259K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960565	NM_001204375.2(NPR3):c.1426+11A>G	NPR3	Single nucleotide variant (intron variant)	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 1952102	NM_001204375.2(NPR3):c.770-10C>T	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949004	NM_001204375.2(NPR3):c.51G>C (p.Trp17Cys)	LOC123493284, NPR3 (W17C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1944418	NM_001204375.2(NPR3):c.1282A>T (p.Thr428Ser)	NPR3 (T171S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942400	NM_001204375.2(NPR3):c.1125A>G (p.Val375=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940524	NM_001204375.2(NPR3):c.934G>A (p.Ala312Thr)	NPR3 (A312T +3 more)	Single nucleotide variant (missense variant)	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 1938366	NM_001204375.2(NPR3):c.769+17C>A	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 1936602	NM_001204375.2(NPR3):c.1446G>A (p.Ser482=)	NPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1929563	NM_001204375.2(NPR3):c.1087G>A (p.Asp363Asn)	NPR3 (D106N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926849	NM_001204375.2(NPR3):c.769+18C>G	NPR3, LOC123493284	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1922955	NM_001204375.2(NPR3):c.1514+9G>A	NPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918730	NM_001204375.2(NPR3):c.1261A>G (p.Met421Val)	NPR3 (M164V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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