ClinVar for Gene (Select 4352) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374815	NM_005373.3(MPL):c.1162G>T (p.Ala388Ser)	MPL (A388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367097	NM_005373.3(MPL):c.391G>C (p.Gly131Arg)	MPL (G131R)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia 1	GLikely pathogenic
Select item 3366543	NM_005373.3(MPL):c.867G>A (p.Leu289=)	MPL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3345177	NM_005373.3(MPL):c.408dup (p.Ser137fs)	MPL (S137fs)	Duplication (frameshift variant)	MPL-related disorder	GLikely pathogenic
Select item 3340285	NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)	MPL (W515*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3337295	NM_005373.3(MPL):c.1421G>A (p.Trp474Ter)	MPL (W474*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3295702	NM_005373.3(MPL):c.1196G>A (p.Arg399Lys)	MPL (R399K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3202344	NM_005373.3(MPL):c.401C>T (p.Ala134Val)	MPL (A134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202319	NM_005373.3(MPL):c.1649G>A (p.Ser550Asn)	MPL (S550N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202311	NM_005373.3(MPL):c.1631G>A (p.Arg544Lys)	MPL (R544K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202296	NM_005373.3(MPL):c.154T>C (p.Trp52Arg)	MPL (W52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202291	NM_005373.3(MPL):c.1436A>G (p.Asp479Gly)	MPL (D479G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202273	NM_005373.3(MPL):c.1199A>C (p.Glu400Ala)	MPL (E400A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3058418	NM_005373.3(MPL):c.*10C>T	MPL	Single nucleotide variant (3 prime UTR variant)	MPL-related disorder	GLikely benign
Select item 3048441	NM_005373.3(MPL):c.684T>A (p.Ser228Arg)	MPL (S228R)	Single nucleotide variant (missense variant)	Thrombocythemia 2	GUncertain significance
Select item 3031305	NM_005373.3(MPL):c.252G>A (p.Met84Ile)	MPL (M84I)	Single nucleotide variant (missense variant)	MPL-related disorder	GUncertain significance
Select item 3029076	NM_005373.3(MPL):c.1643C>T (p.Ala548Val)	MPL (A548V)	Single nucleotide variant (missense variant)	MPL-related disorder	GUncertain significance
Select item 3025270	NM_005373.3(MPL):c.1775G>A (p.Arg592Gln)	MPL (R592Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954448	NM_005373.3(MPL):c.79+16G>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2954398	NM_005373.3(MPL):c.278_285dup (p.Pro96fs)	MPL (P96fs)	Duplication (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2954326	NM_005373.3(MPL):c.854-1G>A	MPL	Single nucleotide variant (splice acceptor variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely pathogenic
Select item 2953929	NM_005373.3(MPL):c.1452G>A (p.Glu484=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2953431	NM_005373.3(MPL):c.1665A>C (p.Thr555=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2953232	NM_005373.3(MPL):c.1185C>T (p.Asn395=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2953091	NM_005373.3(MPL):c.1166-14T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2953056	NM_005373.3(MPL):c.853+10del	MPL	Deletion (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2952450	NM_005373.3(MPL):c.1440A>G (p.Pro480=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2952264	NM_005373.3(MPL):c.407C>T (p.Pro136Leu)	MPL (P136L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2952194	NM_005373.3(MPL):c.1351C>T (p.Leu451=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2952163	NM_005373.3(MPL):c.234C>G (p.Pro78=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2951875	NM_005373.3(MPL):c.876T>C (p.Phe292=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2951765	NM_005373.3(MPL):c.159T>C (p.Asp53=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2950919	NM_005373.3(MPL):c.1647G>A (p.Leu549=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2950796	NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)	MPL (W515S)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2950075	NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)	MPL (C583fs)	Microsatellite (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2949977	NM_005373.3(MPL):c.1182A>C (p.Pro394=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949935	NM_005373.3(MPL):c.306T>C (p.Arg102=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949786	NM_005373.3(MPL):c.691-17G>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949728	NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)	MPL (Q348R)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2949626	NM_005373.3(MPL):c.963G>C (p.Arg321=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949583	NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)	MPL (W515A)	Indel (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2949534	NM_005373.3(MPL):c.79+20G>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949528	NM_005373.3(MPL):c.1389C>T (p.Ala463=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949419	NM_005373.3(MPL):c.1320del (p.Pro441fs)	MPL (P441fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2949388	NM_005373.3(MPL):c.853+18T>G	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949176	NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)	MPL (K339*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2948640	NM_005373.3(MPL):c.1468+11C>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2948624	NM_005373.3(MPL):c.916C>T (p.Gln306Ter)	MPL (Q306*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2948259	NM_005373.3(MPL):c.94G>A (p.Ala32Thr)	MPL (A32T)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2948136	NM_005373.3(MPL):c.853+18T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2948045	NM_005373.3(MPL):c.1275C>G (p.Leu425=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2947816	NM_005373.3(MPL):c.1566-14T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2947504	NM_005373.3(MPL):c.1480T>C (p.Leu494=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2947401	NM_005373.3(MPL):c.1565+12G>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2946858	NM_005373.3(MPL):c.417C>T (p.Ile139=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2946240	NM_005373.3(MPL):c.339T>C (p.Asn113=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2946161	NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)	MPL (Y457fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2946041	NM_005373.3(MPL):c.1329G>T (p.Gly443=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2945714	NM_005373.3(MPL):c.89T>A (p.Leu30Ter)	MPL (L30*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2945445	NM_005373.3(MPL):c.1468+10G>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2945332	NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)	MPL (R523G)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2944818	NM_005373.3(MPL):c.690+15T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2944809	NM_005373.3(MPL):c.853+10C>G	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2944787	NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)	MPL (R514S)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2944617	NM_005373.3(MPL):c.79+9C>G	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2944351	NM_005373.3(MPL):c.432G>A (p.Gly144=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2944242	NM_005373.3(MPL):c.1566-15T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2944172	NM_005373.3(MPL):c.388_389del (p.Val130fs)	MPL (V130fs)	Microsatellite (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2944107	NM_005373.3(MPL):c.549G>T (p.Thr183=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943804	NM_005373.3(MPL):c.1566-19T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943686	NM_005373.3(MPL):c.391+19T>G	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943675	NM_005373.3(MPL):c.392-8G>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943626	NM_005373.3(MPL):c.391+19T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943603	NM_005373.3(MPL):c.980+14T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943576	NM_005373.3(MPL):c.459C>T (p.Ser153=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2943339	NM_005373.3(MPL):c.709G>T (p.Glu237Ter)	MPL (E237*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2942983	NM_005373.3(MPL):c.1782G>A (p.Leu594=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2942728	NM_005373.3(MPL):c.79+1G>A	MPL	Single nucleotide variant (splice donor variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely pathogenic
Select item 2942704	NM_005373.3(MPL):c.1626C>T (p.Tyr542=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2942402	NM_005373.3(MPL):c.150C>T (p.Cys50=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2941906	NM_005373.3(MPL):c.690+8_690+12dup	MPL	Duplication (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2941834	NM_005373.3(MPL):c.1523dup (p.Leu510fs)	MPL (L510fs)	Duplication (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2941306	NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)	MPL (S574F)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2940813	NM_005373.3(MPL):c.1745del (p.Leu582fs)	MPL (L582fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2940570	NM_005373.3(MPL):c.417dup (p.Lys140fs)	MPL (K140fs)	Duplication (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2940457	NM_005373.3(MPL):c.1239A>G (p.Pro413=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2940057	NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)	MPL (S360I)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2939988	NM_005373.3(MPL):c.669G>A (p.Lys223=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2939808	NM_005373.3(MPL):c.192G>A (p.Gln64=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2939537	NM_005373.3(MPL):c.690+20C>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2938714	NM_005373.3(MPL):c.11G>A (p.Trp4Ter)	MPL (W4*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2938338	NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)	MPL (A548D)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2938176	NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)	MPL (Q411*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2938111	NM_005373.3(MPL):c.1165+18_1165+27dup	MPL	Duplication (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2938047	NM_005373.3(MPL):c.1766T>C (p.Met589Thr)	MPL (M589T)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2937936	NM_005373.3(MPL):c.582C>A (p.Cys194Ter)	MPL (C194*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2937913	NM_005373.3(MPL):c.212+17G>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2937546	NM_005373.3(MPL):c.1251A>C (p.Ala417=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign

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