steps barbellata - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 113

<< First< Prev

Page of 2

The following term was not found in ClinVar: barbellata.
Showing results for Stelis barbellata. Your search for Stelis barbellata retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988780	NM_000147.5(FUCA1):c.662_662+8del	FUCA1	Deletion (splice donor variant)	Fucosidosis	GLikely pathogenic
Select item 41934	NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	B3GALNT2 (G247E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GConflicting classifications of pathogenicity
Select item 1350756	NM_001130987.2(DYSF):c.2697+5G>A	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GConflicting classifications of pathogenicity
Select item 206740	NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)	SCN1A (S169P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1699943	NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg)	COL4A4 (G285R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 1677280	NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)	ATG7 (V160A +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GConflicting classifications of pathogenicity
Select item 8184	NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)	CCR5, CCR5AS (S185fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 1120022	NM_024996.7(GFM1):c.409G>A (p.Val137Met)	GFM1 (V137M +1 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GPathogenic
Select item 16374	NM_021870.2(FGG):c.1168G>C (p.Asp390His)	FGG (D390H)	Single nucleotide variant (missense variant)	FIBRINOGEN MATSUMOTO 1	Gother
Select item 224947	NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	SDHA (A45T)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 391	NM_000405.5(GM2A):c.506G>C (p.Arg169Pro)	GM2A (R169P)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease, variant AB	GPathogenic
Select item 2584779	NM_006208.3(ENPP1):c.2230+5G>A	ENPP1	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1489727	NM_032415.7(CARD11):c.215G>A (p.Arg72Gln)	CARD11 (R72Q)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 208084	NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	CLCN1 (T550M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 13374	NM_002778.4(PSAP):c.577-2A>G	PSAP	Single nucleotide variant (splice acceptor variant)	Sphingolipid activator protein 1 deficiency	GPathogenic
Select item 634102	CYP2C192/27	CYP2C19, LOC110599570	Single nucleotide variant (synonymous variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 638207	CYP2C191/1	CYP2C19, LOC110599570	Variation	Escitalopram response +4 more	Gdrug response
Select item 634351	CYP2C191/8	CYP2C19, LOC110599570	Variation	Voriconazole response +4 more	Gdrug response
Select item 634350	CYP2C191/7	CYP2C19, LOC110599570	Variation	Voriconazole response +4 more	Gdrug response
Select item 633878	CYP2C191/17	CYP2C19, LOC110599570	Variation	Sertraline response +4 more	Gdrug response
Select item 633863	CYP2C191/6	CYP2C19, LOC110599570	Variation	Sertraline response +4 more	Gdrug response
Select item 633862	CYP2C191/5	CYP2C19, LOC110599570	Variation	Sertraline response +4 more	Gdrug response
Select item 633861	CYP2C191/4B	CYP2C19, LOC110599570 (M1V)	Variation (missense variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633859	CYP2C191/4A	CYP2C19, LOC110599570	Variation	Citalopram response +4 more	Gdrug response
Select item 633858	CYP2C191/3	CYP2C19, LOC110599570	Variation	Voriconazole response +4 more	Gdrug response
Select item 633857	CYP2C191/2	CYP2C19, LOC110599570	Variation (synonymous variant +1 more)	Citalopram response +4 more	Gdrug response
Select item 638790	CYP2C194B/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 634251	CYP2C194B/7	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Clopidogrel response +4 more	Gdrug response
Select item 634216	CYP2C194B/17	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 634023	CYP2C194B/8	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 634015	CYP2C193/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Voriconazole response +4 more	Gdrug response
Select item 633877	CYP2C194B/6	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633876	CYP2C194B/5	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633871	CYP2C194A/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (missense variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 634285	CYP2C192/34	CYP2C19, LOC110599570 (P3S +1 more)	Single nucleotide variant (missense variant +3 more)	Voriconazole response +3 more	Gdrug response
Select item 633904	CYP2C192/28	CYP2C19, LOC110599570 (I19L +1 more)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634104	CYP2C192/30	CYP2C19 (R73C)	Single nucleotide variant (missense variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 634105	CYP2C192/31	CYP2C19 (H78Y)	Single nucleotide variant (missense variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 634335	CYP2C192/32	CYP2C19 (H99R)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634008	CYP2C192/35	CYP2C19	Single nucleotide variant (intron variant +1 more)	Sertraline response +3 more	Gdrug response
Select item 634359	CYP2C192/11	CYP2C19 (R150H)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634006	CYP2C192/22	CYP2C19 (R186P)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634336	CYP2C192/33	CYP2C19 (D188N)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634237	CYP2C192/10	CYP2C19 (P227L)	Single nucleotide variant (missense variant +2 more)	Sertraline response +3 more	Gdrug response
Select item 638797	CYP2C192/2	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 634407	CYP2C192/23	CYP2C19 (G91R)	Single nucleotide variant (synonymous variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634406	CYP2C192/14	CYP2C19 (L17P)	Single nucleotide variant (synonymous variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634103	CYP2C192/29	CYP2C19 (K28I)	Single nucleotide variant (synonymous variant +2 more)	Sertraline response +3 more	Gdrug response
Select item 634010	CYP2C192/8	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 634009	CYP2C192/7	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 634007	CYP2C192/24	CYP2C19 (R335Q)	Single nucleotide variant (synonymous variant +2 more)	Citalopram response +3 more	Gdrug response
Select item 633974	CYP2C192/9	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Escitalopram response +3 more	Gdrug response
Select item 633972	CYP2C192/25	CYP2C19 (F448L)	Single nucleotide variant (synonymous variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 633971	CYP2C192/19	CYP2C19 (S51G)	Single nucleotide variant (synonymous variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 633902	CYP2C192/17	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633901	CYP2C192/15	CYP2C19 (I19L)	Single nucleotide variant (synonymous variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 633870	CYP2C192/6	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Clopidogrel response +4 more	Gdrug response
Select item 633869	CYP2C192/5	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633868	CYP2C192/4B	CYP2C19, LOC110599570 (M1V)	Single nucleotide variant (synonymous variant +3 more)	Sertraline response +4 more	Gdrug response
Select item 633867	CYP2C192/4A	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633866	CYP2C192/3	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	Sertraline response +4 more	Gdrug response
Select item 633856	CYP2C19*2	CYP2C19	Single nucleotide variant (synonymous variant +1 more)	CYP2C19: no function	Gdrug response
Select item 16897	NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)	CYP2C19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign; other
Select item 633973	CYP2C192/26	CYP2C19 (D256N)	Single nucleotide variant (missense variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 633903	CYP2C192/18	CYP2C19 (R329H)	Single nucleotide variant (missense variant +2 more)	Escitalopram response +3 more	Gdrug response
Select item 634360	CYP2C192/13	CYP2C19 (R410C)	Single nucleotide variant (missense variant +2 more)	Voriconazole response +3 more	Gdrug response
Select item 634238	CYP2C192/16	CYP2C19 (R442C)	Single nucleotide variant (missense variant +2 more)	Sertraline response +3 more	Gdrug response
Select item 634284	CYP2C192/12	CYP2C19	Single nucleotide variant (stop lost +2 more)	Voriconazole response +3 more	Gdrug response
Select item 13387	NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	INS, INS-IGF2 (C96Y)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +2 more	GConflicting classifications of pathogenicity
Select item 21114	NM_000207.3(INS):c.127T>G (p.Cys43Gly)	INS, INS-IGF2 (C43G)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GLikely risk allele
Select item 13133	NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	RAG2 (G95R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 31196	NM_032901.4(COX14):c.57G>A (p.Met19Ile)	COX14 (M19I)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 10	GPathogenic
Select item 1598	NM_020937.4(FANCM):c.2171C>A (p.Ser724Ter)	FANCM (S724* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia, complementation group M	GUncertain significance
Select item 637517	NM_001376.5(DYNC1H1):c.1808A>T (p.Glu603Val)	DYNC1H1 (E603V)	Single nucleotide variant (missense variant)	Spinal muscular atrophy with lower extremity predominance	GLikely pathogenic
Select item 18178	NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)	ALDOA, LOC112694756 (E207K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GPathogenic
Select item 932173	NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)	PRMT7 (R289fs +3 more)	Microsatellite (frameshift variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
Select item 982296	NM_000152.5(GAA):c.546+2_546+5del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 982364	NM_000152.5(GAA):c.2189+5_2189+8del	GAA	Microsatellite (splice donor variant)	Glycogen storage disease, type II	GUncertain significance
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +6 more	GPathogenic
Select item 17170	NM_001848.3(COL6A1):c.931-1G>A	COL6A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2462	NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	ADSL (R426H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 11817	NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)	MECP2 (E406* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic
Select item 9719	NC_012920.1(MT-ND2):m.5133_5134del	MT-ND2	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 638258	CYP2C195/5			Sertraline response +4 more	Gdrug response
Select item 638257	CYP2C197/7			Sertraline response +4 more	Gdrug response
Select item 638256	CYP2C196/6			Sertraline response +4 more	Gdrug response
Select item 638255	CYP2C194A/4A			Sertraline response +4 more	Gdrug response
Select item 638254	CYP2C198/8			Escitalopram response +4 more	Gdrug response
Select item 638253	CYP2C193/3			Escitalopram response +4 more	Gdrug response
Select item 638251	CYP2C1917/17			Escitalopram response +4 more	Gdrug response
Select item 634354	CYP2C195/8			Citalopram response +4 more	Gdrug response
Select item 634353	CYP2C195/7			Citalopram response +4 more	Gdrug response
Select item 634352	CYP2C195/6			Citalopram response +4 more	Gdrug response
Select item 634250	CYP2C193/8			Clopidogrel response +4 more	Gdrug response
Select item 634249	CYP2C193/7			Clopidogrel response +4 more	Gdrug response
Select item 634248	CYP2C193/6			Sertraline response +4 more	Gdrug response
Select item 634031	CYP2C197/8			Clopidogrel response +4 more	Gdrug response
Select item 634030	CYP2C196/8			Voriconazole response +4 more	Gdrug response
Select item 634029	CYP2C196/7			Voriconazole response +4 more	Gdrug response

<< First< Prev

Page of 2