tang rutaceae - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7069	NM_007262.5(PARK7):c.115G>T (p.Ala39Ser)	PARK7 (A39S)	Single nucleotide variant (missense variant)	Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1	GPathogenic
Select item 293791	NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala)	ATP13A2 (P474A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2417	NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu)	PINK1, PINK1-AS (P399L)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 3311209	NM_003738.5(PTCH2):c.2642C>A (p.Pro881Gln)	PTCH2 (P881Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693500	NM_002440.4(MSH4):c.1552C>T (p.Gln518Ter)	MSH4	Single nucleotide variant (nonsense)	Spermatogenic failure 2	GPathogenic
Select item 985814	NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)	ADAR (R1051* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2927171	NM_001111.5(ADAR):c.3233G>A (p.Arg1078His)	ADAR (R1033H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 521470	NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)	ADAR (A822fs +2 more)	Deletion (frameshift variant +1 more)	Aicardi-Goutieres syndrome 6 +3 more	GPathogenic/Likely pathogenic
Select item 2577334	NM_000157.4(GBA1):c.1263C>A (p.Asn421Lys)	GBA1, LOC106627981 (N334K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4301	NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	GBA1, LOC106627981 (F252I +2 more)	Single nucleotide variant (missense variant)	not specified +9 more	GPathogenic/Likely pathogenic
Select item 856653	NM_170707.4(LMNA):c.659G>A (p.Arg220His)	LMNA (R108H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 7467	NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	KCNJ10 (R297C)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	GPathogenic/Likely pathogenic
Select item 7463	NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	KCNJ10 (R199*)	Single nucleotide variant (nonsense)	EAST syndrome +3 more	GPathogenic/Likely pathogenic
Select item 446870	NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser)	ATP1A2 (G762S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48614	NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)	USH2A (V3068A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 517525	NM_001035.2(RYR2):c.(?_49)_(168_?)del	RYR2	Deletion	not specified	GUncertain significance
Select item 404190	NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	RYR2 (A77V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 201194	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2 (R176Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 165072	NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	RYR2 (I217V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 201214	NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	RYR2 (R420W)	Single nucleotide variant (missense variant)	Ventricular fibrillation +6 more	GConflicting classifications of pathogenicity
Select item 12959	NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	RYR2 (L433P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GPathogenic
Select item 43768	NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)	RYR2 (T1107M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 133309	NM_194248.3(OTOF):c.1172del (p.Lys391fs)	OTOF (K391fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 208644	NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	SPAST (M390V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 90662	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2 (E48*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90510	NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)	MSH2 (W345* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 419793	NM_000251.3(MSH2):c.1108G>A (p.Ala370Thr)	MSH2 (A370T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 90577	NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	MSH2 (Q343fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90583	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)	MSH2 (Q419K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 859379	NM_000251.3(MSH2):c.1440dup (p.Leu481fs)	MSH2 (L415fs +1 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 3230831	NM_000251.3(MSH2):c.2087C>A (p.Pro696Gln)	MSH2 (P244Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 90881	NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)	MSH2 (P696L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 41648	NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)	MSH2 (E809K +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1049526	NM_000251.3(MSH2):c.2516A>C (p.His839Pro)	MSH2 (H773P +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of breast	GUncertain significance
Select item 90990	NM_000251.3(MSH2):c.2516A>G (p.His839Arg)	MSH2 (H839R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +8 more	GConflicting classifications of pathogenicity
Select item 455293	NM_000179.3(MSH6):c.3819T>G (p.Asn1273Lys)	MSH6 (N1273K +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 161342	NM_000312.4(PROC):c.565C>T (p.Arg189Trp)	PROC (R189W +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity +1 more	GConflicting classifications of pathogenicity
Select item 225448	NM_000312.4(PROC):c.574AAG[1] (p.Lys193del)	PROC (K193del +9 more)	Microsatellite (inframe_deletion)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 668	NM_000312.4(PROC):c.658C>T (p.Arg220Trp)	PROC (R220W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 206854	NM_001165963.4(SCN1A):c.4943G>T (p.Arg1648Leu)	LOC102724058, SCN1A (R1637L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1040912	NM_001165963.4(SCN1A):c.4339-12C>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 65869	NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 694534	NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)	CFAP65, LOC100129175 (E1781*)	Single nucleotide variant (nonsense)	Spermatogenic failure 40	GPathogenic
Select item 133308	NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)	PAX3 (G81C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 978926	NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)	SLC6A1, SLC6A1-AS1 (Y140C +1 more)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 455379	NM_000249.4(MLH1):c.122A>T (p.Asp41Val)	MLH1 (D41V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 90120	NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	MLH1 (K84E)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 36550	NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	MLH1 (R100*)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome	GPathogenic
Select item 873043	NM_000249.4(MLH1):c.473del (p.Asn158fs)	MLH1 (N60fs +2 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 29654	NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	MLH1 (R265C +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 89618	NM_000249.4(MLH1):c.1038G>T (p.Gln346His)	MLH1 (Q346H +4 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 219291	NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)	MLH1 (L393P +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 993111	NM_000249.4(MLH1):c.1349del (p.Asp450fs)	MLH1 (D109fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 127615	NM_000249.4(MLH1):c.1558+5G>A	MLH1	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1779805	NM_000249.4(MLH1):c.1771del (p.Asp591fs)	MLH1 (D233fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic
Select item 17080	NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	MLH1 (K618del +5 more)	Microsatellite (inframe_indel +2 more)	Lynch syndrome	GPathogenic
Select item 89979	NM_000249.4(MLH1):c.1989G>A (p.Glu663=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 3241946	NM_000249.4(MLH1):c.2172dup (p.Arg725fs)	MLH1 (R367fs +8 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GLikely pathogenic
Select item 279789	NM_000094.4(COL7A1):c.5027G>A (p.Gly1676Glu)	COL7A1 (G1676E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12137	NM_000387.6(SLC25A20):c.199-10T>G	SLC25A20	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 346014	NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)	LAMB2 (A34D)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2776	NM_000158.4(GBE1):c.783-1G>A	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 503726	NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)	PROS1 (R451* +1 more)	Single nucleotide variant (nonsense)	Protein S deficiency disease +3 more	GPathogenic/Likely pathogenic
Select item 902481	NC_000003.12:g.93973939G>C	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 430938	NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs)	CFAP44, LOC127898559 (M669fs)	Deletion (frameshift variant)	Spermatogenic failure 20	GPathogenic
Select item 96511	NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)	NPHP3, NPHP3-ACAD11 (L790P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 462722	NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)	NPHP3, NPHP3-ACAD11 (E435del)	Deletion (non-coding transcript variant +1 more)	Joubert syndrome and related disorders +5 more	GConflicting classifications of pathogenicity
Select item 635041	NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)	NPHP3, NPHP3-ACAD11 (R392*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GPathogenic/Likely pathogenic
Select item 2500481	NM_002662.5(PLD1):c.2084G>A (p.Arg695His)	PLD1 (R657H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321455	NC_000003.11:g.(37045966_37048481)_(37048555_37050304)del	MLH1	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 545643	NM_000222.3(KIT):c.1598C>A (p.Ala533Asp)	KIT (A533D +3 more)	Single nucleotide variant (missense variant)	Cutaneous mastocytosis	GPathogenic
Select item 1247925	NM_178135.5(HSD17B13):c.812+2dup	HSD17B13	Duplication (splice donor variant)	not provided	GBenign
Select item 218976	NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	MMAA (L217*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 68753	NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)	ERCC8 (A160T +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1072261	NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)	PIK3R1 (R301*)	Single nucleotide variant (nonsense)	PIK3R1-related disorder +3 more	GPathogenic
Select item 2635356	NM_181523.3(PIK3R1):c.1746-2A>C	PIK3R1	Single nucleotide variant (splice acceptor variant)	PIK3R1-related disorder	GLikely pathogenic
Select item 279949	NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)	SLC22A5 (W132* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 6411	NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	SLC22A5 (W132* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6426	NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	SLC22A5 (R254* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 94102	NM_003060.4(SLC22A5):c.824+13T>C	SLC22A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 6419	NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	SLC22A5 (P478L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 132142	NM_001379610.1(SPINK1):c.194+2T>C	SPINK1	Single nucleotide variant (splice donor variant)	Chronic pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 7479	NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	HSPB1 (R127W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1330728	NM_000089.4(COL1A2):c.1496G>T (p.Gly499Val)	COL1A2 (G499V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 5289	NM_198999.3(SLC26A5):c.-53-2A>G	SLC26A5	Single nucleotide variant (splice acceptor variant)	not specified +2 more	GBenign/Likely benign
Select item 4838	NC_000007.14:g.107660756T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43524	NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	SLC26A4, SLC26A4-AS1 (G6V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 828068	NM_000441.2(SLC26A4):c.165-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4830	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4 (T193I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43565	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	SLC26A4 (L236V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 4817	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4 (L236P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +5 more	GPathogenic/Likely pathogenic
Select item 43545	NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)	SLC26A4 (G740V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 7142	NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	LOC111674475, CFTR (G551S)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 628976	NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly)	CDKN2A (A68G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 37357	NM_000155.4(GALT):c.394C>T (p.His132Tyr)	GALT (H132Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25170	NM_000155.4(GALT):c.396C>A (p.His132Gln)	GALT (H23Q)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25189	NM_000155.4(GALT):c.502G>T (p.Val168Leu)	GALT (V59L)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25226	NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	GALT (R92C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 280989	NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	GALT (R259Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic

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