vriesea robust - ClinVar

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Items: 43

The following term was not found in ClinVar: vriesea.
Showing results for Vriesea robusta. Your search for Vriesea robusta retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1268234	NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)	CADM3 (Y172C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2FF +1 more	GLikely pathogenic
Select item 987946	NM_018194.6(HHAT):c.860G>T (p.Gly287Val)	HHAT (G287V +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia-pseudohermaphroditism syndrome	GPathogenic
Select item 978421	NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)	SLC3A1 (N410K)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 336482	NM_000145.4(FSHR):c.1330G>A (p.Ala444Thr)	FSHR (A444T +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 137622	NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	IFIH1 (R779H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +10 more	GPathogenic/Likely pathogenic
Select item 3031165	NM_003742.4(ABCB11):c.3274G>A (p.Asp1092Asn)	ABCB11 (D1092N)	Single nucleotide variant (missense variant)	ABCB11-related disorder	GUncertain significance
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 813278	NM_001394966.1(NEK10):c.1230+5G>C	NEK10 (R412T)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 44	GLikely pathogenic
Select item 3338473	NM_001105580.3(GABRR3):c.615T>A (p.Tyr205Ter)	GABRR3 (Y205*)	Single nucleotide variant (nonsense)	Restless legs	GLikely risk allele
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic OOncogenic
Select item 427066	NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)	CLCN2 (G24D)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +1 more	GPathogenic/Likely pathogenic
Select item 2442394	NM_001321571.2(CAMK2D):c.628G>A (p.Gly210Arg)	CAMK2D (G14R +3 more)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 427785	NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)	MAB21L2, LRBA (R51G)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
Select item 1704629	NM_016277.5(RAB23):c.1A>C (p.Met1Leu)	RAB23 (M1L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 157499	NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp)	EGFR (G428D +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GPathogenic
Select item 436385	NM_001395413.1(POR):c.674C>T (p.Pro225Leu)	POR (P225L +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2428497	NM_000230.3(LEP):c.175G>A (p.Gly59Ser)	LEP (G59S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 2428498	NM_000230.3(LEP):c.190C>T (p.Pro64Ser)	LEP (P64S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 67553	NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)	KCNH2 (N33T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13711	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	PRF1 (R225W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic
Select item 221554	NM_002315.3(LMO1):c.26-3357G>T	LMO1	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 7 +1 more	GBenign; protective
Select item 42536	NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)	MYBPC3 (G490R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 17632	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C (G406R +1 more)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome +7 more	GPathogenic
Select item 870469	NM_016123.4(IRAK4):c.1049del (p.Gly350fs)	IRAK4 (G147fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 67	GPathogenic
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +11 more	GPathogenic
Select item 17011	NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	GJB2 (R75W)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +4 more	GPathogenic
Select item 51810	NM_000059.4(BRCA2):c.518G>T (p.Gly173Val)	BRCA2 (G173V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3889	NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	HEXA (Y427fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 599186	NR_029681.1(MIR140):n.24A>G	MIR140, WWP2	Single nucleotide variant (non-coding transcript variant +1 more)	Spondyloepiphyseal dysplasia, nishimura type +1 more	GPathogenic
Select item 55482	NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)	BRCA1 (R1751P +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GLikely pathogenic
Select item 55242	NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)	BRCA1 (S1542C +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55138	NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr)	BRCA1 (M1400T +58 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 128201	NM_058216.3(RAD51C):c.1026+5_1026+7del	RAD51C	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 449729	NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter)	RAD51C (R347*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group O +2 more	GConflicting classifications of pathogenicity
Select item 66077	NM_001961.4(EEF2):c.1787C>A (p.Pro596His)	EEF2 (P596H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375686	NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)	SCN1B (R125C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 626322	NM_001039213.4(CEACAM16):c.662-1G>C	CEACAM16, CEACAM16-AS1	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal recessive 113	GPathogenic
Select item 2573115	NM_005551.5(KLK2):c.748C>T (p.Arg250Trp)	KLK2 (R148W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Acute myeloid leukemia	GBenign
Select item 1063972	NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GConflicting classifications of pathogenicity
Select item 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GPathogenic
Select item 3363109	MSL2, 4-BP DEL, 694TCTG	MSL2	Deletion	KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME	GPathogenic
Select item 204360	NG_011716.2:g.54765TGC[51_?]	TCF4	Microsatellite	Corneal dystrophy, Fuchs endothelial, 3	GPathogenic

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Items: 43