prunus african - ClinVar - NCBI

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The following term was not found in ClinVar: prunus.
Showing results for Prunus africana. Search instead for Prunus africana (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 388958	NM_198576.4(AGRN):c.49C>T (p.Leu17Phe)	AGRN (L17F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 474098	NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)	AGRN (R400W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 390111	NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser)	AGRN (G636S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 390809	NM_198576.4(AGRN):c.2650C>T (p.Arg884Cys)	AGRN (R884C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 390183	NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)	AGRN (R1233W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 389927	NM_198576.4(AGRN):c.4120G>T (p.Val1374Leu)	AGRN (V1374L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385926	NM_198576.4(AGRN):c.6019A>G (p.Lys2007Glu)	AGRN (K2007E +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2925287	NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)	B3GALT6 (T79A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GPathogenic
Select item 387709	NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser)	B3GALT6 (P123S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +3 more	GUncertain significance
Select item 373234	NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	B3GALT6 (A172V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +4 more	GConflicting classifications of pathogenicity
Select item 281706	NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val)	B3GALT6 (G196V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1050587	NM_001330311.2(DVL1):c.1850G>T (p.Arg617Leu)	DVL1 (R592L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049544	NM_001330311.2(DVL1):c.1819A>C (p.Thr607Pro)	DVL1 (T582P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373812	NM_001330311.2(DVL1):c.1324_1331dup (p.Val445fs)	DVL1 (V420fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 391268	NM_001330311.2(DVL1):c.1106C>T (p.Ala369Val)	DVL1 (A369V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related disorder	GLikely pathogenic
Select item 1675332	NM_001170535.3(ATAD3A):c.19A>G (p.Ile7Val)	ATAD3A (I7V)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GBenign/Likely benign
Select item 1684261	NM_001170535.3(ATAD3A):c.480_500del (p.Glu161_Glu167del)	ATAD3A	Deletion (inframe_deletion)	Harel-Yoon syndrome	GUncertain significance
Select item 393221	NM_001114748.2(TMEM240):c.424C>T (p.Arg142Trp)	TMEM240 (R142W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373233	NM_001114748.2(TMEM240):c.373G>A (p.Asp125Asn)	TMEM240 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372833	NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)	TMEM240 (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1050582	NM_002074.5(GNB1):c.916+5G>A	GNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422536	NM_002074.5(GNB1):c.266A>G (p.Lys89Arg)	GNB1 (K89R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 373594	NM_003036.4(SKI):c.464C>G (p.Ala155Gly)	SKI (A155G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213686	NM_003036.4(SKI):c.919G>A (p.Val307Met)	SKI (V307M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213690	NM_003036.4(SKI):c.1139G>A (p.Arg380Gln)	SKI (R380Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213691	NM_003036.4(SKI):c.1183C>T (p.Pro395Ser)	SKI (P395S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213692	NM_003036.4(SKI):c.1196C>T (p.Ala399Val)	SKI (A399V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 213693	NM_003036.4(SKI):c.1247C>T (p.Ala416Val)	SKI (A416V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213707	NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)	SKI (A422T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 373583	NM_003036.4(SKI):c.1420C>G (p.Pro474Ala)	SKI (P474A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 373745	NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)	SKI (S494T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213695	NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)	SKI (A510T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213696	NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)	SKI (R519C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213704	NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)	SKI (A530del)	Microsatellite (inframe_deletion)	Shprintzen-Goldberg syndrome +1 more	GUncertain significance
Select item 213710	NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)	SKI (W710R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1448457	NM_002617.4(PEX10):c.960C>G (p.Ile320Met)	PEX10 (I195M +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 961415	NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)	PEX10 (R92G)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 598635	NM_002617.4(PEX10):c.271C>T (p.Arg91Cys)	PEX10 (R91C)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 592470	NM_002617.4(PEX10):c.116C>T (p.Ala39Val)	PEX10 (A39V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 135349	NM_003820.4(TNFRSF14):c.50A>G (p.Lys17Arg)	TNFRSF14, TNFRSF14-AS1 (K17R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133394	NM_003820.4(TNFRSF14):c.304+545C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133395	NM_003820.4(TNFRSF14):c.304+606C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133396	NM_003820.4(TNFRSF14):c.304+624C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133397	NM_003820.4(TNFRSF14):c.304+642C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133398	NM_003820.4(TNFRSF14):c.305-654A>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133399	NM_003820.4(TNFRSF14):c.305-653T>C	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133400	NM_003820.4(TNFRSF14):c.305-476C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133401	NM_003820.4(TNFRSF14):c.305-462G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133402	NM_003820.4(TNFRSF14):c.305-401G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133403	NM_003820.4(TNFRSF14):c.305-397T>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133404	NM_003820.4(TNFRSF14):c.305-364C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133405	NM_003820.4(TNFRSF14):c.305-328C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133406	NM_003820.4(TNFRSF14):c.305-320C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133407	NM_003820.4(TNFRSF14):c.305-308C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133408	NM_003820.4(TNFRSF14):c.305-249C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133409	NM_003820.4(TNFRSF14):c.305-201G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133411	NM_003820.4(TNFRSF14):c.305-191C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133410	NM_003820.4(TNFRSF14):c.305-191C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133412	NM_003820.4(TNFRSF14):c.305-171G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133413	NM_003820.4(TNFRSF14):c.305-98G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133415	NM_003820.4(TNFRSF14):c.305-59_305-57delinsACT	TNFRSF14	Indel (intron variant)	not specified	Gnot provided
Select item 133414	NM_003820.4(TNFRSF14):c.305-57C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135350	NM_003820.4(TNFRSF14):c.348C>T (p.Asn116=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135353	NM_003820.4(TNFRSF14):c.349G>A (p.Ala117Thr)	TNFRSF14 (A117T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135351	NM_003820.4(TNFRSF14):c.405C>T (p.Cys135=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135352	NM_003820.4(TNFRSF14):c.408C>T (p.Ala136=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135354	NM_003820.4(TNFRSF14):c.521G>A (p.Gly174Glu)	TNFRSF14 (G174E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133416	NM_003820.4(TNFRSF14):c.552-165del	TNFRSF14	Deletion (intron variant)	not specified	Gnot provided
Select item 133417	NM_003820.4(TNFRSF14):c.552-140C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135355	NM_003820.4(TNFRSF14):c.721G>A (p.Val241Ile)	TNFRSF14 (V241I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135356	NM_003820.4(TNFRSF14):c.785C>T (p.Pro262Leu)	TNFRSF14 (P262L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135357	NM_003820.4(TNFRSF14):c.797C>T (p.Thr266Met)	TNFRSF14 (T266M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 228319	NM_022114.4(PRDM16):c.-14C>A	LOC124903827, PRDM16	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 227038	NM_022114.4(PRDM16):c.38-15C>T	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 451384	NM_022114.4(PRDM16):c.43G>A (p.Gly15Ser)	PRDM16 (G15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474401	NM_022114.4(PRDM16):c.102G>A (p.Ala34=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 510574	NM_022114.4(PRDM16):c.171C>T (p.Ser57=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 504756	NM_022114.4(PRDM16):c.252C>T (p.Phe84=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GLikely benign
Select item 391742	NM_022114.4(PRDM16):c.347T>C (p.Val116Ala)	PRDM16 (V116A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227039	NM_022114.4(PRDM16):c.387+6C>T	PRDM16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 505232	NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu)	PRDM16 (S138L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 406240	NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)	PRDM16 (N161D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227042	NM_022114.4(PRDM16):c.627C>T (p.His209=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 221025	NM_022114.4(PRDM16):c.1071C>T (p.Arg357=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 227022	NM_022114.4(PRDM16):c.1113C>T (p.Cys371=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 373356	NM_022114.4(PRDM16):c.1325G>A (p.Arg442Gln)	PRDM16 (R442Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 241421	NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)	PRDM16 (G513S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 60725	NM_022114.4(PRDM16):c.1573dup (p.Arg525fs)	PRDM16	Duplication (frameshift variant)	Left ventricular noncompaction cardiomyopathy +1 more	GPathogenic
Select item 227862	NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)	PRDM16 (V562I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 426420	NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met)	PRDM16 (T569M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 474412	NM_022114.4(PRDM16):c.1745G>A (p.Arg582His)	PRDM16 (R582H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227027	NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)	PRDM16 (P633L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 474419	NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)	PRDM16 (G766S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2629562	NM_022114.4(PRDM16):c.2384C>T (p.Pro795Leu)	PRDM16 (P795L)	Single nucleotide variant (missense variant)	PRDM16-related disorder	GUncertain significance
Select item 424068	NM_022114.4(PRDM16):c.2386G>A (p.Ala796Thr)	PRDM16 (A796T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 241425	NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)	PRDM16 (G817S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227029	NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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