3'-O-Pentyluridine - ClinVar - NCBI

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The following term was not found in ClinVar: Pentyluridine.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229157	NM_022114.4(PRDM16):c.1187-10G>C	PRDM16	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 424898	NM_017739.4(POMGNT1):c.1212-3_1212-2del	POMGNT1, TSPAN1	Deletion (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more	GConflicting classifications of pathogenicity
Select item 370499	NM_017739.4(POMGNT1):c.1027-2_1027-1del	POMGNT1, TSPAN1	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GConflicting classifications of pathogenicity
Select item 1525403	NM_017739.4(POMGNT1):c.880-1G>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic/Likely pathogenic
Select item 552342	NM_017739.4(POMGNT1):c.880-1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease +4 more	GPathogenic/Likely pathogenic
Select item 1473137	NM_017739.4(POMGNT1):c.752-2A>G	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy +3 more	GConflicting classifications of pathogenicity
Select item 2412673	NM_017739.4(POMGNT1):c.653-2del	POMGNT1, TSPAN1	Deletion (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy	GUncertain significance
Select item 44575	NM_002524.5(NRAS):c.291-8G>A	NRAS	Single nucleotide variant (intron variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 504890	NM_014625.4(NPHS2):c.535-1G>T	NPHS2	Single nucleotide variant (intron variant +1 more)	Idiopathic nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 667022	NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter)	TNNT2 (R262* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 43657	NM_001276345.2(TNNT2):c.601-8C>T	TNNT2	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GConflicting classifications of pathogenicity
Select item 48604	NM_206933.4(USH2A):c.8559-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2691600	NC_000001.10:g.(?_46654354)_(46660074_46660224)dup	POMGNT1	Duplication	not specified	GUncertain significance
Select item 1513669	NC_000001.10:g.(?_46654942)_(46655681_?)dup	POMGNT1	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 831945	NC_000001.11:g.(?_46188709)_(46194411_?)dup	POMGNT1	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 179713	NM_001267550.2(TTN):c.98684-10A>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228302	NM_001267550.2(TTN):c.64094-2A>G	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 178830	NM_001267550.2(TTN):c.49649-11T>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 180123	NM_003319.4(TTN):c.20966-11dup	TTN, TTN-AS1	Duplication (intron variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 46869	NM_001267550.2(TTN):c.32555-12G>T	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 202355	NM_001267550.2(TTN):c.29042-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity
Select item 166146	NM_003319.4(TTN):c.13282+23498dup	TTN	Duplication (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137836	NM_001267550.2(TTN):c.296-14T>C	TTN	Single nucleotide variant (intron variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 165004	NM_002880.3(RAF1):c.1804-11_1804-7dup	RAF1	Duplication (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 801205	NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)	MLH1 (R232G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 232298	NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)	MLH1 (I450fs +7 more)	Insertion (frameshift variant +1 more)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 488962	NM_001354604.2(MITF):c.881-7T>A	MITF	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 1459323	NC_000004.11:g.(?_25160565)_(25162001_?)del	SEPSECS	Deletion	not provided	GPathogenic
Select item 36779	NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)	SPINK1 (R65Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 246592	NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)	SH3TC2 (M334V)	Single nucleotide variant (missense variant)	Tip-toe gait +6 more	GConflicting classifications of pathogenicity
Select item 178029	NM_004415.4(DSP):c.2131-10T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GConflicting classifications of pathogenicity
Select item 44882	NM_004415.4(DSP):c.2794-4dup	DSP	Duplication	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 162982	NM_080680.3(COL11A2):c.3583-3C>T	COL11A2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44378	NM_001105206.3(LAMA4):c.3558-7T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +2 more	GConflicting classifications of pathogenicity
Select item 180022	NM_001105206.3(LAMA4):c.3434A>G (p.Asn1145Ser)	LAMA4 (N1138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44338	NM_001105206.3(LAMA4):c.1078-14C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GConflicting classifications of pathogenicity
Select item 43521	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	SLC26A4 (V570I)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	Myopathy +8 more	GPathogenic/Likely pathogenic
Select item 418618	NM_005431.2(XRCC2):c.810dup (p.Ile271fs)	XRCC2 (I271fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 651249	NC_000008.11:g.(?_43103539)_(43103840_?)del	POMK	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GPathogenic
Select item 2635081	NM_032237.5(POMK):c.615dup (p.Asn206fs)	POMK (N206fs)	Duplication (frameshift variant)	POMK-related disorder	GLikely pathogenic
Select item 228344	NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del	EYA1	Deletion	Rare genetic deafness	GPathogenic
Select item 3068782	NC_000008.10:g.(42958974_42977249)_(42978578_?)dup	POMK	Duplication	not specified	GUncertain significance
Select item 1412566	NC_000008.10:g.(?_42958682)_(42958983_?)dup	POMK	Duplication	Limb-girdle muscular dystrophy due to POMK deficiency +1 more	GUncertain significance
Select item 234905	NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	AOPEP, FANCC (R555*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 2585970	NM_000136.3(FANCC):c.1651_1652dup (p.Lys552fs)	AOPEP, FANCC (K552fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 12048	NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	FANCC, AOPEP (T519fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 556701	NM_000136.3(FANCC):c.1534-1G>T	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C +1 more	GLikely pathogenic
Select item 578039	NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)	AOPEP, FANCC (Q465fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1072437	NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	AOPEP, FANCC (S459fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 210976	NM_000136.3(FANCC):c.1330-3C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 929815	NM_000136.3(FANCC):c.1155-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 1050008	NM_000136.3(FANCC):c.997-9C>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504728	NM_001114753.3(ENG):c.1742-15G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3255	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1 (D606fs +10 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +10 more	GPathogenic
Select item 6625	NM_006412.4(AGPAT2):c.589-2A>G	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy +2 more	GPathogenic
Select item 1804787	NC_000009.11:g.(134388719_134390812)_(134399194_?)del	POMT1, UCK1	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	ABCA2, AGPAT2 +77 more	Deletion	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 432145	NM_020549.5(CHAT):c.1840-9A>G	CHAT	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46001	NM_022124.6(CDH23):c.6050-9G>A	CDH23	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic
Select item 45597	NM_014000.3(VCL):c.2746-14C>T	VCL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 801181	NM_000518.5(HBB):c.*129T>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1771443	NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)	MEN1 (E463* +6 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 4888	NM_003977.4(AIP):c.910C>T (p.Arg304Ter)	AIP (R304* +1 more)	Single nucleotide variant (nonsense +1 more)	Somatotroph adenoma +2 more	GPathogenic
Select item 1049568	NM_145309.6(LRRC51):c.*1201A>C	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GBenign
Select item 3023	NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	ATM, C11orf65 (V2424G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Colorectal cancer +4 more	GPathogenic
Select item 229304	NM_005422.4(TECTA):c.487-7C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 517312	NM_001378609.3(OTOGL):c.335-9del	OTOGL	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 254039	NM_000059.3(BRCA2):c.-39-?_67+?del	BRCA2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 91817	NM_000059.4(BRCA2):c.426-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 37923	NM_000059.4(BRCA2):c.476-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52222	NM_000059.4(BRCA2):c.6938-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52246	NM_000059.4(BRCA2):c.7008-2A>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267684	NM_000059.4(BRCA2):c.7618-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38132	NM_000059.4(BRCA2):c.7977-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 142861	NM_000059.4(BRCA2):c.8332-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 38164	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52667	NM_000059.4(BRCA2):c.8754+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 142095	NM_000059.4(BRCA2):c.8954-1_8955delinsAA	BRCA2	Indel (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52759	NM_000059.4(BRCA2):c.9118-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267722	NM_000059.4(BRCA2):c.9257-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 52888	NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52889	NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38260	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Deletion (frameshift variant)	BRCA2-related cancer predisposition	GLikely pathogenic FDA Recognized database
Select item 267171	NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)	BRCA2 (S3250fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 667400	NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)	BRCA2 (Q3262*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 267172	NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91534	NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52916	NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)	BRCA2 (Y3308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52919	NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)	BRCA2 (E3309*)	Single nucleotide variant (nonsense)	BRCA2-related cancer predisposition	GUncertain significance FDA Recognized database
Select item 44542	NM_002471.4(MYH6):c.643-5C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +4 more	GConflicting classifications of pathogenicity
Select item 666825	NM_001379180.1(ESRRB):c.*1402C>A	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 449378	NM_013382.7(POMT2):c.924-2A>C	POMT2	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GPathogenic
Select item 200022	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1 (D1238N)	Single nucleotide variant (missense variant)	Stiff skin syndrome +10 more	GConflicting classifications of pathogenicity
Select item 5532	NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	NR2E3 (R311Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +5 more	GPathogenic
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425859	NC_000015.9:g.(?_32393486)_(34030811_?)dup	RYR3, ARHGAP11A +5 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 44174	NM_001330.5(CTF1):c.145-10G>A	CTF1, LOC130058878	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +1 more	GConflicting classifications of pathogenicity

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