ornithidium aggregate - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1165

<< First< Prev

Page of 12

The following term was not found in ClinVar: ornithidium.
Showing results for Ornithidium aggregatum. Your search for Ornithidium aggregatum retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459803	NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	PLOD1 (E37K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 465253	NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	ATP13A2 (Y1020fs +2 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1321317	NM_005373.3(MPL):c.12G>A (p.Trp4Ter)	MPL (W4*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia	GUncertain significance
Select item 130889	NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)	CPT2 (R151Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 377402	NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	ABCA4 (R511C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GConflicting classifications of pathogenicity
Select item 66791	NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)	LMNA (N39S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 14510	NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)	LOC126805877, LMNA (S143F +2 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation	GPathogenic
Select item 66804	NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)	LMNA (R439C +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +6 more	GConflicting classifications of pathogenicity
Select item 3233253	NM_001231.5(CASQ1):c.166A>T (p.Asn56Tyr)	CASQ1 (N56Y)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 3233252	NM_001231.5(CASQ1):c.308G>A (p.Gly103Asp)	CASQ1 (G103D)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 16549	NM_000186.4(CFH):c.1204= (p.His402=)	CFH	Single nucleotide variant (no sequence alteration)	Age related macular degeneration 4 +1 more	GPathogenic; risk factor
Select item 93550	NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys)	ACTA1	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 5172	NM_018662.3(DISC1):c.[67+5859A>T;791G>A]	DISC1, TSNAX-DISC1 (R264Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Schizophrenia 9	Grisk factor
Select item 3233259	NM_004837.4(GGPS1):c.770T>G (p.Phe257Cys)	GGPS1 (F203C +1 more)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GLikely pathogenic
Select item 505347	NM_194248.3(OTOF):c.*204G>A	OTOF	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 805980	NM_006759.4(UGP2):c.34A>G (p.Met12Val)	UGP2 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	D-6618 +2 more	GPathogenic/Likely pathogenic
Select item 8401	NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)	DCTN1 (G59S +1 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +2 more	GPathogenic
Select item 226842	NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr)	NEB (K4543T)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign/Likely benign
Select item 227726	NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)	NEB (D4426N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227724	NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)	NEB (A4223T)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +2 more	GBenign/Likely benign
Select item 374331	NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)	SCN1A (S570N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 180184	NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)	TUBA4A (W407* +1 more)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 22	GPathogenic
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +8 more	GConflicting classifications of pathogenicity
Select item 3024113	NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)	DES	Microsatellite (inframe_insertion +1 more)	Desmin-related myofibrillar myopathy	GPathogenic
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 16834	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES (T442I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 218940	NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	PAX3 (T315K +1 more)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia +5 more	GConflicting classifications of pathogenicity
Select item 8281	NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	OXTR, CAV3 (A46T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1326912	NM_000335.5(SCN5A):c.4810+5G>A	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1	GLikely pathogenic
Select item 583356	NM_000335.5(SCN5A):c.4771A>T (p.Asn1591Tyr)	SCN5A (N1592Y +4 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 532081	NM_000335.5(SCN5A):c.4721G>A (p.Cys1574Tyr)	SCN5A (C1574Y +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 263423	NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)	SCN5A	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1055232	NM_000335.5(SCN5A):c.4712C>G (p.Thr1571Arg)	SCN5A (T1518R +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 67917	NM_000335.5(SCN5A):c.4709T>G (p.Phe1570Cys)	SCN5A (F1570C +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 229234	NM_000335.5(SCN5A):c.4296+6T>A	SCN5A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 659965	NM_000335.5(SCN5A):c.4293G>T (p.Arg1431Ser)	SCN5A (R1431S +2 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 463336	NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 179030	NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)	SCN5A (A1427S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 519279	NM_000335.5(SCN5A):c.4277C>A (p.Ala1426Glu)	SCN5A (A1426E +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519246	NM_000335.5(SCN5A):c.4243-4C>T	SCN5A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 846026	NM_000335.5(SCN5A):c.4217C>G (p.Ala1406Gly)	SCN5A (A1353G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1482306	NM_000335.5(SCN5A):c.4189G>A (p.Val1397Met)	SCN5A (V1397M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 518780	NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
Select item 406438	NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3338284	NM_000335.5(SCN5A):c.4030_4041del (p.Trp1344_Phe1347del)	SCN5A	Deletion (inframe_deletion +1 more)	Brugada syndrome 1	GUncertain significance
Select item 378920	NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=)	SCN5A	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1E +7 more	GConflicting classifications of pathogenicity
Select item 923272	NM_000335.5(SCN5A):c.4001T>G (p.Met1334Arg)	SCN5A (M1281R +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 139061	NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)	SCN5A	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +10 more	GConflicting classifications of pathogenicity
Select item 1327133	NM_000335.5(SCN5A):c.3837+12C>T	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 629523	NM_000335.5(SCN5A):c.3837C>T (p.Asp1279=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 651986	NM_000335.5(SCN5A):c.3814T>G (p.Trp1272Gly)	SCN5A (W1273G +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 629343	NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)	SCN5A	Single nucleotide variant (synonymous variant)	Progressive familial heart block, type 1A +9 more	GConflicting classifications of pathogenicity
Select item 962858	NM_000335.5(SCN5A):c.3738A>G (p.Thr1246=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome 1 +2 more	GLikely benign
Select item 139059	NM_000335.5(SCN5A):c.3664-7T>A	SCN5A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 926157	NM_000335.5(SCN5A):c.3663+4C>G	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 919970	NM_000335.5(SCN5A):c.3661C>T (p.Leu1221=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 1430298	NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome 1 +3 more	GUncertain significance
Select item 242195	NM_000335.5(SCN5A):c.3509G>A (p.Gly1170Asp)	SCN5A (G1170D +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 838712	NM_000335.5(SCN5A):c.3509-3T>C	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 378545	NM_000335.5(SCN5A):c.3388-3T>C	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 345118	NM_000335.5(SCN5A):c.3388-7T>C	SCN5A	Single nucleotide variant (intron variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 809446	NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 925221	NM_000335.5(SCN5A):c.2520G>T (p.Gly840=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GLikely benign
Select item 139054	NM_000335.5(SCN5A):c.2437-5C>A	SCN5A	Single nucleotide variant (intron variant)	Congenital long QT syndrome +11 more	GConflicting classifications of pathogenicity
Select item 560718	NM_000335.5(SCN5A):c.2437-7T>C	SCN5A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 406449	NM_000335.5(SCN5A):c.2261T>A (p.Leu754Gln)	SCN5A (L754Q)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 345123	NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)	SCN5A	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +10 more	GConflicting classifications of pathogenicity
Select item 923998	NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile)	SCN5A (V751I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 345124	NM_000335.5(SCN5A):c.2181C>T (p.Ile727=)	SCN5A	Single nucleotide variant (synonymous variant)	Ventricular fibrillation, paroxysmal familial, type 1 +9 more	GConflicting classifications of pathogenicity
Select item 345125	NM_000335.5(SCN5A):c.2151G>A (p.Pro717=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 194288	NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 201463	NM_000335.5(SCN5A):c.1891-5C>G	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 165153	NM_000335.5(SCN5A):c.1891-8G>A	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 201462	NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met)	SCN5A (T630M)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +10 more	GUncertain significance
Select item 201416	NM_000335.5(SCN5A):c.1821C>T (p.Gly607=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 406425	NM_000335.5(SCN5A):c.1583G>T (p.Ser528Ile)	SCN5A (S528I)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 67668	NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)	SCN5A (R526H)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 378877	NM_000335.5(SCN5A):c.1575C>T (p.Ser525=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 165155	NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)	SCN5A	Single nucleotide variant (synonymous variant)	Paroxysmal familial ventricular fibrillation +11 more	GConflicting classifications of pathogenicity
Select item 532073	NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro)	SCN5A (R513P)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 809450	NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys)	SCN5A (M506K)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +10 more	GUncertain significance
Select item 345128	NM_000335.5(SCN5A):c.1491T>G (p.Ser497=)	SCN5A	Single nucleotide variant (synonymous variant)	Ventricular fibrillation, paroxysmal familial, type 1 +9 more	GConflicting classifications of pathogenicity
Select item 853715	NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser)	SCN5A (T486S)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 201454	NM_000335.5(SCN5A):c.1399G>T (p.Ala467Ser)	SCN5A (A467S)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 67657	NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)	SCN5A (A447G)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 496570	NM_000335.5(SCN5A):c.1338+3G>A	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 451631	NM_000335.5(SCN5A):c.1338G>A (p.Glu446=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 139047	NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +9 more	GConflicting classifications of pathogenicity
Select item 569946	NM_000335.5(SCN5A):c.1141-4_1141-3delinsTA	SCN5A	Indel (intron variant)	not provided +2 more	GUncertain significance
Select item 180520	NM_000335.5(SCN5A):c.1140+1G>A	SCN5A	Single nucleotide variant (splice donor variant)	Brugada syndrome (shorter-than-normal QT interval) +3 more	GPathogenic/Likely pathogenic
Select item 165156	NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 264022	NM_000335.5(SCN5A):c.1035C>T (p.Gly345=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1326908	NM_000335.5(SCN5A):c.935-3C>G	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1	GLikely pathogenic
Select item 1406965	NM_000335.5(SCN5A):c.836A>G (p.Lys279Arg)	SCN5A (K279R)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 1171664	NM_000335.5(SCN5A):c.832C>T (p.His278Tyr)	SCN5A (H278Y)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 48316	NM_000335.5(SCN5A):c.717C>T (p.Ile239=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 201442	NM_000335.5(SCN5A):c.702A>C (p.Ser234=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 432157	NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys)	SCN5A (R219C)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +4 more	GConflicting classifications of pathogenicity
Select item 36766	NM_000335.5(SCN5A):c.630G>A (p.Val210=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Ventricular fibrillation, paroxysmal familial, type 1 +10 more	GConflicting classifications of pathogenicity
Select item 645777	NM_000335.5(SCN5A):c.611+5G>A	SCN5A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 12