potentially AND indica* - ClinVar - NCBI

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Showing results for Potentilla AND indica*. Your search for Potentilla AND indica* retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21468	NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)	TARDBP	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 439575	NM_007272.3(CTRC):c.640-12G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 2443101	NM_000760.4(CSF3R):c.610C>T (p.Gln204Ter)	CSF3R (Q204*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3349148	NM_001394062.1(MACF1):c.11950C>T (p.Arg3984Ter)	LOC126805711, MACF1 (R1922* +1 more)	Single nucleotide variant (nonsense)	MACF1-related disorder	GUncertain significance
Select item 2629644	NM_001394062.1(MACF1):c.20599C>T (p.Gln6867Ter)	MACF1 (Q2893* +2 more)	Single nucleotide variant (nonsense)	MACF1-related disorder	GUncertain significance
Select item 1809613	NM_000310.4(PPT1):c.234+2T>G	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 284532	NM_022356.4(P3H1):c.1346-1G>C	P3H1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1335936	NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)	SLC2A1 (E247*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 917671	NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	MPL (Y63*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 1072257	NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)	MPL (E439fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic
Select item 453938	NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)	PTCH2 (P1116L)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 1525207	NC_000001.11:g.47416279_47416517del	FOXE3, LINC01389	Deletion	Congenital primary aphakia +1 more	GUncertain significance
Select item 889	NC_000001.11:g.63322420G>T	FOXD3, FOXD3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Autoimmune disease, susceptibility to, 1	Grisk factor
Select item 8521	NM_002303.6(LEPR):c.668A>G (p.Gln223Arg)	LEPR (Q223R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 631614	NM_002303.6(LEPR):c.1835G>A (p.Arg612His)	LEPR (R612H)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +2 more	GPathogenic/Likely pathogenic
Select item 236140	NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)	ABCA4 (G1961R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 7880	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	ABCA4 (V931M +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GConflicting classifications of pathogenicity
Select item 219171	NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr)	ABCA4 (A549T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8909	NM_015967.8(PTPN22):c.1858= (p.Trp620=)	AP4B1-AS1, PTPN22 (R620W +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1346	NM_138959.3(VANGL1):c.715G>A (p.Val239Ile)	VANGL1 (V239I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4656	NM_006118.4(HAX1):c.125dup (p.Ser43fs)	HAX1 (S43fs)	Duplication (frameshift variant +1 more)	Kostmann syndrome +1 more	GPathogenic
Select item 66854	NM_170707.4(LMNA):c.1608+5G>C	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GPathogenic
Select item 692216	NM_002241.5(KCNJ10):c.626T>C (p.Ile209Thr)	KCNJ10 (I209T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 692217	NM_002241.5(KCNJ10):c.601G>A (p.Ala201Thr)	KCNJ10 (A201T)	Single nucleotide variant (missense variant)	SeSAME-like syndrome	GPathogenic
Select item 8696	NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	PPOX (R59W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 8697	NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	PPOX (R168H +3 more)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 8693	NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)	PPOX (G232R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8704	NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)	PPOX (P256R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875181	NM_001122764.3(PPOX):c.844G>A (p.Val282Ile)	PPOX (V282I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876147	NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu)	PPOX (P245L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 411669	NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	MPZ (S78W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic/Likely pathogenic
Select item 642	NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	F5 (R534Q)	Single nucleotide variant (missense variant)	hormonal contraceptives for systemic use response - Toxicity	Gdrug response
Select item 562398	NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	AXDND1, NPHS2 (A284V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 447883	NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	AXDND1, NPHS2 (E264Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1341906	NM_001205293.3(CACNA1E):c.3612+226A>G	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 21582	NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)	ASPM (E1266*)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly +3 more	GPathogenic
Select item 692298	NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	ASPM (Q955*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic
Select item 60723	NM_002838.5(PTPRC):c.1624A>T (p.Lys542Ter)	PTPRC (K542* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 105	GPathogenic
Select item 43676	NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)	TNNT2 (R286C +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 12415	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2 (R131W +3 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 2576173	NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)	KDM5B (Y710* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374768	NM_014053.4(FLVCR1):c.1092+5G>A	FLVCR1	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 48535	NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	USH2A, USH2A-AS2 (G1861S)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2584783	NM_003676.4(DEGS1):c.2T>C (p.Met1Thr)	DEGS1 (M1T)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 3341326	NM_001100.4(ACTA1):c.3G>C (p.Met1Ile)	ACTA1 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 2b, severe infantile, autosomal recessive	GUncertain significance
Select item 2443779	NM_005378.6(MYCN):c.173C>T (p.Thr58Met)	MYCN, MYCNOS (T58M)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 495857	NM_000384.3(APOB):c.10848del (p.Gly3617fs)	APOB (G3617fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 409031	NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)	SPAST (L426V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 240948	NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	SPAST (R460C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 40656	NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)	SOS1 (E191K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 999883	NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)	MSH2 (E12*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 245947	NM_000251.3(MSH2):c.366+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome +5 more	GPathogenic/Likely pathogenic
Select item 91105	NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	MSH2 (G162R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 568928	NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)	MSH2 (G338V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 90868	NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)	MSH2 (G683R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90874	NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)	MSH2 (M688R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 483672	NM_000251.3(MSH2):c.2086C>T (p.Pro696Ser)	MSH2 (P696S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 485849	NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)	MSH2 (R711Q +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GUncertain significance
Select item 439192	NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)	MSH2 (G751R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89562	NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	MSH6 (A25S)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +8 more	GConflicting classifications of pathogenicity
Select item 89172	NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	MSH6 (L370S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GPathogenic/Likely pathogenic
Select item 182678	NM_000179.3(MSH6):c.1842del (p.Cys615fs)	MSH6 (C313fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 1294422	NM_001039348.3(EFEMP1):c.1480T>C (p.Ter494Gln)	EFEMP1	Single nucleotide variant (stop lost)	not provided	GPathogenic
Select item 1294423	NM_001039348.3(EFEMP1):c.1429C>T (p.Arg477Cys)	EFEMP1 (R477C)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic
Select item 1294421	NM_001039348.3(EFEMP1):c.238A>T (p.Asn80Tyr)	EFEMP1 (N80Y)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, H +1 more	GPathogenic
Select item 1338514	NM_001378454.1(ALMS1):c.12115-1G>T	ALMS1, LOC126806252	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 817554	NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter)	STAMBP (R78*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1332707	NM_004836.7(EIF2AK3):c.2045G>A (p.Trp682Ter)	EIF2AK3, LOC101928371 (W531* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1335950	NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	ERCC3 (W310* +1 more)	Duplication (nonsense)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 1318908	NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)	SCN2A (A240S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 446649	NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	TTC21B (Q834*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 206809	NM_001165963.4(SCN1A):c.3879+5G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 206736	NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=)	LOC102724058, SCN1A	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 68593	NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)	SCN1A (R851Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 383462	NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln)	SCN1A (R187Q)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 2443105	NM_025000.4(DCAF17):c.1027del (p.Asp343fs)	DCAF17 (D343fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 597673	NM_001267550.2(TTN):c.107644del (p.Ser35882fs)	TTN, TTN-AS1 (S26817fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GLikely pathogenic
Select item 47030	NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)	TTN, TTN-AS1 (W16471C +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 223256	NM_001267550.2(TTN):c.40558+1G>A	TTN	Single nucleotide variant (splice donor variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 2630153	NM_002156.5(HSPD1):c.188T>C (p.Ile63Thr)	HSPD1 (I63T)	Single nucleotide variant (missense variant)	HSPD1-related disorder	GLikely pathogenic
Select item 39836	NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)	NDUFB3 (G70*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 460743	NM_000465.4(BARD1):c.2T>C (p.Met1Thr)	BARD1 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2630762	NM_181458.4(PAX3):c.793-4A>G	PAX3	Single nucleotide variant (intron variant)	PAX3-related disorder	GUncertain significance
Select item 1073782	NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter)	COL4A4 (G948*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 369964	NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	MFF-DT, COL4A3 (G695R)	Single nucleotide variant (missense variant)	Alport syndrome +5 more	GPathogenic/Likely pathogenic
Select item 555905	NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	COL4A3, MFF-DT (G1277S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 848983	NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)	SLC19A3 (W285* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 372854	NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)	ITPR1 (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 496053	NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 421558	NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	LOC107303340, VHL (R200Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3339734	NM_001370658.1(BTD):c.499C>T (p.Pro167Ser)	BTD (P167S)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 12559	NM_001354712.2(THRB):c.1313G>A (p.Arg438His)	THRB (R438H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 862019	NM_003242.6(TGFBR2):c.758G>T (p.Gly253Val)	TGFBR2 (G253V +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 165398	NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)	TGFBR2 (A527V +10 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 90141	NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	MLH1 (E102K)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 17096	NM_000249.4(MLH1):c.394G>C (p.Asp132His)	MLH1 (D132H +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign

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