aechmea fleming - ClinVar

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Items: 89

The following term was not found in ClinVar: aechmea.
Showing results for Aechmea flemingii. Your search for Aechmea flemingii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692	NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)	FUCA1 (L410R)	Single nucleotide variant (missense variant)	Fucosidosis	GLikely pathogenic
Select item 5960	NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs)	SLC19A2 (V182fs +1 more)	Microsatellite (frameshift variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 5959	NM_006996.3(SLC19A2):c.885del (p.Leu296fs)	SLC19A2 (L95fs +1 more)	Deletion (frameshift variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 940921	NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)	LOC102724058, SCN1A (E1849D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 561108	NM_017875.4(SLC25A38):c.70-2A>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172506	NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys)	SLC25A38 (Q56K)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172489	NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)	SLC25A38 (Q59*)	Single nucleotide variant (nonsense)	Sideroblastic anemia 2	GPathogenic
Select item 1172473	NM_017875.4(SLC25A38):c.207_214del (p.Met70fs)	SLC25A38 (M70fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172503	NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs)	SLC25A38 (K76fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172499	NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter)	SLC25A38 (W87*)	Single nucleotide variant (nonsense)	Sideroblastic anemia 2	GPathogenic
Select item 1172504	NM_017875.4(SLC25A38):c.276+1G>T	SLC25A38	Single nucleotide variant (splice donor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172474	NM_017875.4(SLC25A38):c.276+1G>A	SLC25A38	Single nucleotide variant (splice donor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172475	NM_017875.4(SLC25A38):c.277-2A>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1121	NM_017875.4(SLC25A38):c.277-1G>A	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172496	NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn)	SLC25A38 (I94N)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172483	NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu)	SLC25A38 (G102E)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172501	NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer)	SLC25A38	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1119	NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)	SLC25A38 (Y109fs)	Microsatellite (frameshift variant)	SLC25A38-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1172491	NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs)	SLC25A38 (K112fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1118	NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)	SLC25A38 (R117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1172476	NM_017875.4(SLC25A38):c.362del (p.Pro121fs)	SLC25A38 (P121fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172477	NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg)	SLC25A38 (G130R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172492	NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu)	SLC25A38 (G130E)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 631919	NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)	SLC25A38 (R134C)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GConflicting classifications of pathogenicity
Select item 1172488	NM_017875.4(SLC25A38):c.401G>A (p.Arg134His)	SLC25A38 (R134H)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172509	NM_017875.4(SLC25A38):c.409dup (p.Ala137fs)	SLC25A38 (A137fs)	Duplication (frameshift variant)	Sideroblastic anemia 2 +1 more	GPathogenic
Select item 1172500	NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs)	SLC25A38 (I144fs)	Indel (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172507	NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn)	SLC25A38 (I147N)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172478	NM_017875.4(SLC25A38):c.457-1G>T	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172497	NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg)	SLC25A38 (G157R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172479	NM_017875.4(SLC25A38):c.475del (p.Glu159fs)	SLC25A38 (E159fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172485	NM_017875.4(SLC25A38):c.480dup (p.Ile161fs)	SLC25A38 (I161fs)	Duplication (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172486	NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)	SLC25A38 (R187Q)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1120	NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)	SLC25A38 (R187P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1172510	NM_017875.4(SLC25A38):c.562G>C (p.Asp188His)	SLC25A38 (D188H)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172493	NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)	SLC25A38 (P190R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172508	NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)	SLC25A38 (L196P)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 631920	NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)	SLC25A38 (D209H +1 more)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic/Likely pathogenic
Select item 1172511	NM_017875.4(SLC25A38):c.626-2A>T	SLC25A38	Single nucleotide variant (splice acceptor variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172480	NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs)	SLC25A38 (C223fs)	Deletion (frameshift variant +1 more)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1172487	NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs)	SLC25A38 (I225fs)	Indel (frameshift variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172495	NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val)	SLC25A38 (G228V)	Single nucleotide variant (missense variant +1 more)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1172498	NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro)	SLC25A38 (L230P)	Single nucleotide variant (missense variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1122	NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)	SLC25A38 (K264*)	Single nucleotide variant (intron variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172481	NM_017875.4(SLC25A38):c.792+5G>C	SLC25A38	Single nucleotide variant (intron variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172482	NM_017875.4(SLC25A38):c.809dup (p.Phe271fs)	SLC25A38 (F271fs +1 more)	Duplication (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172494	NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly)	SLC25A38 (P222R +1 more)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172490	NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter)	SLC25A38 (P222L +1 more)	Single nucleotide variant (missense variant +1 more)	Sideroblastic anemia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1172502	NM_017875.4(SLC25A38):c.858del (p.Ala287fs)	SLC25A38 (A287fs +1 more)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172505	NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter)	SLC25A38 (Y293*)	Single nucleotide variant (stop lost +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172484	NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg)	SLC25A38	Single nucleotide variant (3 prime UTR variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 217598	NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)	CC2D2A (V1151A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 987848	NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His)	CC2D2A (R1235H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 217607	NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	CC2D2A (D1556V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 427895	NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)	CPLANE1 (A1783D)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 217580	NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)	CPLANE1 (L595*)	Single nucleotide variant (nonsense)	Joubert syndrome 17 +3 more	GPathogenic
Select item 217542	NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)	AHI1 (K246*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +2 more	GPathogenic
Select item 100667	NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	CSPP1 (E717fs +7 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 56783	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	TMEM67 (G195fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome and related disorders +6 more	GPathogenic/Likely pathogenic
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 14 +11 more	GPathogenic
Select item 812336	NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	INPP5E (R620Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome and related disorders +2 more	GPathogenic/Likely pathogenic
Select item 15290	NM_000518.5(HBB):c.404T>A (p.Val135Glu)	HBB, LOC107133510 +1 more (V135E)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 217636	NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	CEP290 (R1782*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +8 more	GPathogenic
Select item 197044	NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	CEP290 (E1728*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +6 more	GPathogenic/Likely pathogenic
Select item 217623	NM_025114.4(CEP290):c.1666dup (p.Ile556fs)	CEP290 (I556fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +8 more	GPathogenic
Select item 198187	NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)	SMAD3 (R268C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1049562	NM_198525.3(KIF7):c.3505C>T (p.Gln1169Ter)	KIF7, LOC126862216 (Q1169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	Heinz body anemia +4 more	GUncertain significance
Select item 15746	NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	HBA1, LOC106804613 (K17E)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 15744	NM_000558.5(HBA1):c.62A>G (p.His21Arg)	HBA1, LOC106804613 (H21R)	Single nucleotide variant (missense variant)	HEMOGLOBIN HOBART	Gother
Select item 15707	NM_000558.5(HBA1):c.273G>C (p.Lys91Asn)	HBA1, LOC106804613 (K91N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 54800	NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly)	BRCA1, LOC126862571 (R1074G +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 54767	NM_007294.4(BRCA1):c.3080G>A (p.Ser1027Asn)	BRCA1 (S1027N +20 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 185111	NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)	BRCA1 (I925V +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 17681	NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	BRCA1 (R841W +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54506	NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)	BRCA1 (S741C +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 54456	NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)	BRCA1 (D695Y +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54329	NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)	BRCA1 (P568L +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54277	NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)	BRCA1 (R504C +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 54240	NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)	BRCA1 (R466G +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55739	NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)	BRCA1 (Q284R +19 more)	Single nucleotide variant (intron variant +2 more)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 233663	NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)	SMAD4 (C363Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
Select item 484797	NM_005359.6(SMAD4):c.1283A>C (p.Lys428Thr)	SMAD4 (K428T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 449081	NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys)	PIGN (I804K)	Indel (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 264635	NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter)	PIGN (Y780*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 264636	NM_176787.5(PIGN):c.1434+5G>A	PIGN	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 863012	NM_176787.5(PIGN):c.709G>A (p.Gly237Arg)	PIGN (G237R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 264638	NM_176787.5(PIGN):c.324_549+196del	PIGN	Deletion (splice acceptor variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 264637	NM_176787.5(PIGN):c.548_549+6del	PIGN	Deletion (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic

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