urea polyflora - ClinVar - NCBI

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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259	NM_022356.4(P3H1):c.2055+18G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 2585380	NM_001040142.2(SCN2A):c.5801A>C (p.Lys1934Thr)	SCN2A (K1934T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 2734366	NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)	CPS1 (R598C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 203650	NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser)	CPS1 (R803S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128852	NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)	CPS1 (T1406N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 447164	NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)	COL4A3, MFF-DT (P376L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 550302	NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)	COL4A3, MFF-DT (R1450fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +3 more	GPathogenic
Select item 1320112	NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn)	CC2D2A (K1414N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GUncertain significance
Select item 2676486	NM_022132.5(MCCC2):c.281+1del	MCCC2	Deletion (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1329469	NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)	HSD17B4 (Y192C +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 627038	NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)	F13A1 (R78L)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GConflicting classifications of pathogenicity
Select item 2585063	NM_003587.5(DHX16):c.646G>A (p.Glu216Lys)	DHX16 (E216K +1 more)	Single nucleotide variant (missense variant +1 more)	Neuromuscular disease and ocular or auditory anomalies with or without seizures	GUncertain significance
Select item 355314	NM_000045.3(ARG1):c.-70A>G	ARG1	Single nucleotide variant	Arginase deficiency	GUncertain significance
Select item 355315	NM_000045.3(ARG1):c.-65C>T	ARG1	Single nucleotide variant	Arginase deficiency +1 more	GBenign
Select item 355316	NM_000045.4(ARG1):c.-21A>C	ARG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 555971	NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	ARG1 (M1T)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 645245	NM_000045.4(ARG1):c.3G>A (p.Met1Ile)	ARG1 (M1I)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 1945671	NM_000045.4(ARG1):c.4A>G (p.Ser2Gly)	ARG1 (S2G)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2007103	NM_000045.4(ARG1):c.5G>T (p.Ser2Ile)	ARG1 (S2I)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1529356	NM_000045.4(ARG1):c.6C>T (p.Ser2=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1493188	NM_000045.4(ARG1):c.7G>A (p.Ala3Thr)	ARG1 (A3T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1042824	NM_000045.4(ARG1):c.7G>C (p.Ala3Pro)	ARG1 (A3P)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GUncertain significance
Select item 2863052	NM_000045.4(ARG1):c.9C>G (p.Ala3=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1979830	NM_000045.4(ARG1):c.14C>G (p.Ser5Cys)	ARG1 (S5C)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1517542	NM_000045.4(ARG1):c.16A>G (p.Arg6Gly)	ARG1 (R6G)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1362705	NM_000045.4(ARG1):c.19A>C (p.Thr7Pro)	ARG1 (T7P)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1060640	NM_000045.4(ARG1):c.22A>G (p.Ile8Val)	ARG1 (I8V)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GUncertain significance
Select item 1044951	NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)	ARG1 (I8K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992369	NM_000045.4(ARG1):c.30del (p.Ile11fs)	ARG1 (I11fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2007945	NM_000045.4(ARG1):c.30T>C (p.Ile10=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2393	NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	ARG1 (I11T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2713318	NM_000045.4(ARG1):c.42T>G (p.Pro14=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 738539	NM_000045.4(ARG1):c.42T>A (p.Pro14=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1074774	NM_000045.4(ARG1):c.50del (p.Lys17fs)	ARG1 (K17fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 763789	NM_000045.4(ARG1):c.48A>C (p.Ser16=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2174625	NM_000045.4(ARG1):c.51G>C (p.Lys17Asn)	ARG1 (K17N)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2850282	NM_000045.4(ARG1):c.54A>G (p.Gly18=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1500820	NM_000045.4(ARG1):c.57+2_57+6del	ARG1	Deletion (splice donor variant)	Arginase deficiency	GLikely pathogenic
Select item 1494596	NM_000045.4(ARG1):c.56A>T (p.Gln19Leu)	ARG1 (Q19L)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 355317	NM_000045.4(ARG1):c.57G>A (p.Gln19=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency +1 more	GBenign
Select item 3240350	NM_000045.4(ARG1):c.57+1G>C	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GLikely pathogenic
Select item 2102477	NM_000045.4(ARG1):c.57+1G>T	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic
Select item 2395	NM_000045.4(ARG1):c.57+1G>A	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2710297	NM_000045.4(ARG1):c.57+7A>G	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 752858	NM_000045.4(ARG1):c.57+12del	ARG1	Deletion (intron variant)	Arginase deficiency	GBenign
Select item 3023083	NM_000045.4(ARG1):c.57+12A>G	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2876699	NM_000045.4(ARG1):c.57+12A>T	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2695035	NM_000045.4(ARG1):c.57+18dup	ARG1	Duplication (intron variant)	Arginase deficiency	GLikely benign
Select item 2904388	NM_000045.4(ARG1):c.57+20T>C	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2008247	NM_000045.4(ARG1):c.58-18T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 1998230	NM_000045.4(ARG1):c.58-18T>A	MED23, ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 1615914	NM_000045.4(ARG1):c.58-17A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 1558627	NM_000045.4(ARG1):c.58-17A>T	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2912554	NM_000045.4(ARG1):c.58-16T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 1650200	NM_000045.4(ARG1):c.58-13_58-11del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GLikely benign
Select item 657915	NC_000006.12:g.(?_131576653)_(131583918_?)del	ARG1, MED23	Deletion	Arginase deficiency	GPathogenic
Select item 1996579	NM_000045.4(ARG1):c.58-8T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 2821709	NM_000045.4(ARG1):c.58-2A>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 549899	NM_000045.4(ARG1):c.58-2A>C	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 1017390	NM_000045.4(ARG1):c.59C>T (p.Pro20Leu)	MED23, ARG1 (P20L)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1025000	NM_000045.4(ARG1):c.61C>G (p.Arg21Gly)	ARG1, MED23 (R21G)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GUncertain significance
Select item 2397	NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)	ARG1, MED23 (R21*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency +2 more	GPathogenic
Select item 517018	NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)	ARG1, MED23 (R21Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1144197	NM_000045.4(ARG1):c.63A>G (p.Arg21=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2678298	NM_000045.4(ARG1):c.70dup (p.Val24fs)	ARG1, MED23 (V24fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2151232	NM_000045.4(ARG1):c.67G>T (p.Gly23Trp)	ARG1, MED23 (G23W)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2090095	NM_000045.4(ARG1):c.69G>A (p.Gly23=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1409416	NM_000045.4(ARG1):c.70G>C (p.Val24Leu)	ARG1, MED23 (V24L)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1806599	NM_000045.4(ARG1):c.75A>C (p.Glu25Asp)	ARG1, MED23 (E25D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 355318	NM_000045.4(ARG1):c.75A>G (p.Glu25=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1381695	NM_000045.4(ARG1):c.76G>A (p.Glu26Lys)	ARG1, MED23 (E26K)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2387	NM_000045.4(ARG1):c.78del (p.Gly27fs)	ARG1, MED23 (G27fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 551041	NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)	ARG1, MED23 (G27D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 1081736	NM_000045.4(ARG1):c.81C>T (p.Gly27=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2159170	NM_000045.4(ARG1):c.84T>C (p.Pro28=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2902222	NM_000045.4(ARG1):c.87A>C (p.Thr29=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1132373	NM_000045.4(ARG1):c.87A>G (p.Thr29=)	MED23, ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2154336	NM_000045.4(ARG1):c.92T>G (p.Leu31Trp)	ARG1, MED23 (L31W)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1662697	NM_000045.4(ARG1):c.93G>A (p.Leu31=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1076486	NM_000045.4(ARG1):c.93del (p.Arg32fs)	ARG1, MED23 (R32fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1474858	NM_000045.4(ARG1):c.100G>T (p.Ala34Ser)	ARG1, MED23 (A34S)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2671747	NM_000045.4(ARG1):c.103G>A (p.Gly35Ser)	ARG1, MED23 (G35S)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1936190	NM_000045.4(ARG1):c.104G>A (p.Gly35Asp)	ARG1, MED23 (G35D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2995507	NM_000045.4(ARG1):c.111T>C (p.Leu37=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2088412	NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT	ARG1, MED23	Insertion (splice donor variant +1 more)	Arginase deficiency	GUncertain significance
Select item 554020	NM_000045.4(ARG1):c.124_126del (p.Glu42del)	ARG1, MED23 (E42del)	Deletion (inframe_deletion +1 more)	Arginase deficiency	GUncertain significance
Select item 2018545	NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)	MED23, ARG1 (E42fs)	Insertion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1385981	NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)	ARG1, MED23 (E42*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency	GPathogenic
Select item 1930903	NM_000045.4(ARG1):c.128A>G (p.Gln43Arg)	ARG1, MED23 (Q43R)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 557931	NM_000045.4(ARG1):c.129del (p.Glu44fs)	ARG1, MED23 (E44fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 571672	NM_000045.4(ARG1):c.130G>C (p.Glu44Gln)	ARG1, MED23 (E44Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1427598	NM_000045.4(ARG1):c.130+1G>A	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 555785	NM_000045.4(ARG1):c.130+1G>T	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2115225	NM_000045.4(ARG1):c.130+8_130+9del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GLikely benign
Select item 1574955	NM_000045.4(ARG1):c.130+10_130+13dup	ARG1, MED23	Duplication (intron variant)	Arginase deficiency	GLikely benign
Select item 1568314	NM_000045.4(ARG1):c.130+11A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2813080	NM_000045.4(ARG1):c.130+20del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GBenign
Select item 2864370	NM_000045.4(ARG1):c.131-19C>G	ARG1, MED23 (Q46E)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GLikely benign
Select item 2837007	NM_000045.4(ARG1):c.131-14C>T	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 558164	NM_000045.4(ARG1):c.131-9dup	MED23, ARG1 (L49fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GUncertain significance

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