ageratina stanley - ClinVar - NCBI

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The following term was not found in ClinVar: ageratina.
Showing results for Ageratina standleyi. Your search for Ageratina standleyi retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438331	NM_174936.4(PCSK9):c.-331C>A	PCSK9	Single nucleotide variant	Hypercholesterolemia, familial, 1 +4 more	GUncertain significance
Select item 12136	NM_000387.6(SLC25A20):c.84del (p.His29fs)	SLC25A20 (H29fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1697234	NM_000388.4(CASR):c.501T>A (p.Tyr167Ter)	CASR (Y167*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia 1	GPathogenic
Select item 2501711	NM_138386.3(NAF1):c.984dup (p.Ser329fs)	NAF1 (S329fs)	Duplication (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GPathogenic
Select item 2501712	NM_138386.3(NAF1):c.956_957del (p.Lys319fs)	NAF1 (K319fs)	Deletion (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GPathogenic
Select item 39111	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	TERT (T726M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 36209	NM_000162.5(GCK):c.214G>A (p.Gly72Arg)	GCK (G72R +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 16121	NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)	GLUD1 (H507Y +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 16123	NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)	GLUD1 (S501P +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 211086	NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)	GLUD1 (A500T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 16125	NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)	GLUD1 (G499D +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 16124	NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)	GLUD1 (G499S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 16122	NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)	GLUD1 (S498L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 35616	NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	ABCC8 (G1400R +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 556981	NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)	ABCC8 (R968fs +3 more)	Microsatellite (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 558304	NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	ABCC8 (E501K +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 13341	NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	PTPN11 (T411M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 226301	NC_000019.10:g.11089343C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 226300	NC_000019.10:g.11089409C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	LDLR-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 226302	NM_000527.5(LDLR):c.-121T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 226299	NC_000019.10:g.11089429C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226303	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR, LDLR-AS1 (W4fs)	Deletion (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 3712	FH Vancouver 4	LDLR, LDLR-AS1 +2 more	Deletion	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226305	NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)	LDLR (E28*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 3741	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 161273	NM_000527.5(LDLR):c.185C>T (p.Thr62Met)	LDLR (T62M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 225097	NM_000527.5(LDLR):c.190+4A>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226306	NM_000527.5(LDLR):c.191-2A>G	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 226307	NM_000527.5(LDLR):c.196_197del (p.Val66fs)	LDLR (V66fs)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 226308	NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)	LDLR (C75Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 161289	NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	LDLR (R78C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226309	NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)	LDLR (C82*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 226310	NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)	LDLR (P84L)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226311	NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)	LDLR (Q85*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 3685	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR (W87G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226312	NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)	LDLR (C89Y)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 226313	NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)	LDLR (D90G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161266	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	LDLR (E101K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226314	NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	LDLR (Q102*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 226315	NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)	LDLR (C104Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 226316	NM_000527.5(LDLR):c.313_313+1del	LDLR	Deletion (splice donor variant +1 more)	Homozygous familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 226317	NM_000527.5(LDLR):c.313+2dup	LDLR	Duplication (splice donor variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 3736	NM_000527.4(LDLR):c.313+1G>A	LDLR (R191H)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226318	NM_000527.5(LDLR):c.318del (p.Lys107fs)	LDLR (K107fs +1 more)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia	GPathogenic
Select item 226319	NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)	LDLR (C109Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 226320	NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)	LDLR (E113* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 183085	NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)	LDLR (D118Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 226321	NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)	LDLR (Q125K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 226322	NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)	LDLR (C134R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 226323	NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)	LDLR (D139E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 226324	NM_000527.5(LDLR):c.427T>G (p.Cys143Gly)	LDLR (C143G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 226325	NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)	LDLR (C143* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 200918	NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	LDLR (C167* +1 more)	Single nucleotide variant (nonsense +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 183136	NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	LDLR (D168N +1 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 224617	NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)	LDLR (D170N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 3726	NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	LDLR (D175N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 226326	NM_000527.5(LDLR):c.533A>T (p.Asp178Val)	LDLR (D178V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3739	NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	LDLR (C184Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226327	NM_000527.5(LDLR):c.564C>T (p.Tyr188=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 183091	NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)	LDLR (C197R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 226328	NM_000527.5(LDLR):c.648dup (p.Asp217Ter)	LDLR (D176* +1 more)	Duplication (nonsense +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 226329	NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	LDLR (G219del +1 more)	Microsatellite (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226330	NM_000527.5(LDLR):c.660del (p.Asp221fs)	LDLR (D180fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 226331	NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	LDLR (D221N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 183092	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226332	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	LDLR (C222R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 3731	NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	LDLR (D186fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 226333	NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	LDLR (E228* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3730	NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)	LDLR (C231* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 200920	NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	LDLR (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226334	NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	LDLR (D266N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161287	NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	LDLR (D266E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226335	NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)	LDLR	Duplication (nonsense +1 more)	Familial hypercholesterolemia	GPathogenic
Select item 226336	NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	LDLR (D304E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226337	NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	LDLR (S306L +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 226339	NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)	LDLR (C313Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 226338	NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)	LDLR (C145Y +3 more)	Indel (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 226340	NM_000527.5(LDLR):c.940+2T>C	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 226344	NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)	LDLR (C329Y +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 251589	NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)	LDLR (Y336* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 183106	NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	LDLR (G343S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226341	NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)	LDLR (Q345* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic
Select item 226342	NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)	LDLR (R350* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226343	NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)	LDLR (R350P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226345	NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)	LDLR (D356Y +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 226346	NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)	LDLR (C358Y +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 226347	NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)	LDLR (Y207fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 226348	NM_000527.5(LDLR):c.1162del (p.His388fs)	LDLR (H220fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 226349	NM_000527.5(LDLR):c.1187-10G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 226350	NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)	LDLR (A399D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 226351	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	LDLR (R406W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226352	NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)	LDLR (R406P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 36453	NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	LDLR (E408K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 161276	NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	LDLR (T413M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183110	NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	LDLR (R416W +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 226353	NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)	LDLR (V429L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database

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