poliopogon distort - ClinVar - NCBI

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The following term was not found in ClinVar: poliopogon.
Showing results for Poliopogon distortus. Your search for Poliopogon distortus retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126555	NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)	AGRN, LOC129929078 (V1727F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 989289	NM_001170535.3(ATAD3A):c.964-1G>T	ATAD3A	Single nucleotide variant (splice acceptor variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 632078	NM_006610.4(MASP2):c.412+1G>A	MASP2	Single nucleotide variant (splice donor variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 183925	NM_003000.3(SDHB):c.541-2A>G	SDHB	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 438800	NM_003748.4(ALDH4A1):c.866+1G>A	ALDH4A1	Single nucleotide variant (splice donor variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 632101	NM_005529.7(HSPG2):c.12744+1G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	HSPG2-related disorder	GUncertain significance
Select item 631603	NM_020451.3(SELENON):c.537+1dup	SELENON	Duplication (splice donor variant)	SEPN1-related disorder	GUncertain significance
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	Primary myelofibrosis +6 more	GPathogenic/Likely pathogenic
Select item 631605	NM_005373.3(MPL):c.1309-2A>C	MPL	Single nucleotide variant (splice acceptor variant)	MPL-related disorder	GUncertain significance
Select item 187040	NM_001048174.2(MUTYH):c.1392+2C>T	MUTYH	Single nucleotide variant (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 56593	NM_017739.4(POMGNT1):c.1895+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Myopathy caused by variation in POMGNT1 +7 more	GPathogenic/Likely pathogenic
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 56578	NM_017739.4(POMGNT1):c.1285-2A>G	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GPathogenic/Likely pathogenic
Select item 632108	NM_017739.4(POMGNT1):c.751+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	POMGNT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 632111	NM_014762.4(DHCR24):c.1397+2T>A	DHCR24	Single nucleotide variant (splice donor variant)	Desmosterolosis	GUncertain significance
Select item 631611	NM_174936.4(PCSK9):c.1180+1G>A	PCSK9	Single nucleotide variant (splice donor variant)	PCSK9-related disorder	GUncertain significance
Select item 631613	NM_002303.6(LEPR):c.371-2_371-1insT	LEPR	Insertion (splice acceptor variant)	LEPR-related disorder	GUncertain significance
Select item 98893	NM_000329.3(RPE65):c.858+1G>T	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 631617	NM_001902.6(CTH):c.1052+1G>C	CTH	Single nucleotide variant (splice donor variant)	Cystathioninuria	GUncertain significance
Select item 631616	NM_001902.6(CTH):c.1052+1G>A	CTH	Single nucleotide variant (splice donor variant)	Cystathioninuria	GUncertain significance
Select item 631557	NM_000642.3(AGL):c.-69+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GUncertain significance
Select item 631560	NM_001918.5(DBT):c.1282-5_1282-1del	DBT	Deletion (splice acceptor variant)	Maple syrup urine disease	GUncertain significance
Select item 632075	NM_001854.4(COL11A1):c.4248+1G>T	COL11A1	Single nucleotide variant (splice donor variant)	COL11A1-related disorder	GUncertain significance
Select item 632077	NM_013296.5(GPSM2):c.-248-1G>A	GPSM2	Single nucleotide variant (splice acceptor variant +1 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 989287	NM_006496.4(GNAI3):c.303+1G>A	GNAI3	Single nucleotide variant (splice donor variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 632081	NM_019032.6(ADAMTSL4):c.1372-5_1372-2del	ADAMTSL4, ADAMTSL4-AS2	Deletion (splice acceptor variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 632084	NM_002857.4(PEX19):c.432+2T>C	PEX19	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 631574	NM_006996.3(SLC19A2):c.808-1G>A	SLC19A2	Single nucleotide variant (splice acceptor variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Abnormal foot morphology +15 more	GPathogenic
Select item 632091	NM_018122.5(DARS2):c.1191+1G>C	DARS2	Single nucleotide variant (splice donor variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 631581	NM_005562.3(LAMC2):c.2221-1G>A	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 631582	NM_000433.4(NCF2):c.855+1G>A	NCF2	Single nucleotide variant (splice donor variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 632097	NM_001005337.3(PKP1):c.1681-1G>A	PKP1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294917	NM_003465.3(CHIT1):c.1155_1156+2del	CHIT1	Deletion (splice donor variant)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 632099	NM_003465.3(CHIT1):c.605+1G>A	CHIT1	Single nucleotide variant (splice donor variant)	Chitotriosidase deficiency	GUncertain significance
Select item 631588	NM_003465.3(CHIT1):c.314+1G>T	CHIT1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 371487	NM_000228.3(LAMB3):c.298+2T>C	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 48544	NM_206933.4(USH2A):c.5857+2T>C	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 48476	NM_206933.4(USH2A):c.1841-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic
Select item 631595	NM_003193.5(TBCE):c.100+1G>A	TBCE	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 631597	NM_000254.3(MTR):c.250-1G>C	MTR	Single nucleotide variant (splice acceptor variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 631598	NM_000254.3(MTR):c.865+1G>T	MTR	Single nucleotide variant (splice donor variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 631600	NM_006642.5(SDCCAG8):c.220+2T>C	SDCCAG8	Single nucleotide variant (splice donor variant)	SDCCAG8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 631601	NM_006642.5(SDCCAG8):c.675+1G>A	SDCCAG8	Single nucleotide variant (splice donor variant)	SDCCAG8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 631821	NM_003597.5(KLF11):c.1259-2_1259-1del	KLF11	Deletion (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 631838	NM_020779.4(WDR35):c.1470+1G>A	WDR35	Single nucleotide variant (splice donor variant)	WDR35-related disorder	GUncertain significance
Select item 630334	NM_000384.3(APOB):c.2604+1G>A	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 632065	NM_194248.3(OTOF):c.5103+2T>A	LOC112840921, OTOF	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 631533	NM_194248.3(OTOF):c.3409-2A>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632358	NM_194248.3(OTOF):c.2215-1G>A	OTOF	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 48163	NM_194248.3(OTOF):c.1045+2T>G	OTOF	Single nucleotide variant (splice donor variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 989329	NM_004341.5(CAD):c.4315-1G>A	CAD	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 50 +1 more	GConflicting classifications of pathogenicity
Select item 505602	NM_000379.4(XDH):c.1686+1G>C	XDH	Single nucleotide variant (splice donor variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 631860	NM_000104.4(CYP1B1):c.-2+1G>T	CYP1B1	Single nucleotide variant (splice donor variant)	CYP1B1-related disorder	GUncertain significance
Select item 631862	NM_022436.3(ABCG5):c.1325-2A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GUncertain significance
Select item 569764	NM_001171613.2(PREPL):c.888+1G>A	PREPL	Single nucleotide variant (splice donor variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GConflicting classifications of pathogenicity
Select item 336552	NM_001330078.2(NRXN1):c.772+1032G>A	NRXN1	Single nucleotide variant (intron variant +1 more)	Pitt-Hopkins-like syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 631865	NM_015910.7(WDPCP):c.209-1G>A	WDPCP	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337045	NM_080916.3(DGUOK):c.142+1G>T	DGUOK, LOC129934096	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 282607	NM_004082.5(DCTN1):c.414+1G>A	DCTN1	Single nucleotide variant (intron variant +1 more)	See cases +6 more	GConflicting classifications of pathogenicity
Select item 632364	NM_003849.4(SUCLG1):c.825+1G>A	SUCLG1	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 9	GConflicting classifications of pathogenicity
Select item 239583	NM_003896.4(ST3GAL5):c.82+1G>C	LOC129934236, ST3GAL5	Single nucleotide variant (splice donor variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 208567	NM_001298.3(CNGA3):c.101+1G>A	CNGA3	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631822	NM_022336.4(EDAR):c.656-1G>A	EDAR, RANBP2	Single nucleotide variant (splice acceptor variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GUncertain significance
Select item 631824	NM_001128178.3(NPHP1):c.1643-2A>C	NPHP1	Single nucleotide variant (splice acceptor variant)	NPHP1-related disorder	GUncertain significance
Select item 632327	NM_012275.3(IL36RN):c.-28+1G>A	IL36RN	Single nucleotide variant (intron variant +1 more)	Generalized pustular psoriasis +1 more	GUncertain significance
Select item 559539	NM_173842.3(IL1RN):c.63A>G (p.Ser21=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GConflicting classifications of pathogenicity
Select item 331413	NM_001164508.2(NEB):c.23127+2T>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 451052	NM_001164508.2(NEB):c.22590+2T>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 558169	NM_001164508.2(NEB):c.5031+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 631830	NM_024753.5(TTC21B):c.1674+1G>T	TTC21B	Single nucleotide variant (splice donor variant)	TTC21B-related disorder	GUncertain significance
Select item 577625	NM_001365536.1(SCN9A):c.1314+1G>T	SCN1A-AS1, SCN9A	Single nucleotide variant (splice donor variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GConflicting classifications of pathogenicity
Select item 332034	NM_003742.4(ABCB11):c.1197+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 223256	NM_001267550.2(TTN):c.40558+1G>A	TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 632062	NM_001267550.2(TTN):c.30683-2_30683-1insT	TTN	Insertion (intron variant +1 more)	TTN-related disorder	GUncertain significance
Select item 520479	NM_001267550.2(TTN):c.30683-2del	TTN	Deletion (splice acceptor variant +1 more)	TTN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 284258	NM_001267550.2(TTN):c.8902+1G>A	TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 631532	NM_000393.5(COL5A2):c.3363+2T>C	COL5A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type +1 more	GUncertain significance
Select item 631541	NM_005006.7(NDUFS1):c.1554-1G>A	NDUFS1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 632336	NM_005006.7(NDUFS1):c.737+1G>A	NDUFS1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 632342	NM_001875.5(CPS1):c.1982-1G>C	CPS1	Single nucleotide variant (splice acceptor variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 631842	NM_001875.5(CPS1):c.2959+1del	CPS1	Deletion (splice donor variant)	Congenital hyperammonemia, type I	GUncertain significance
Select item 556287	NM_001875.5(CPS1):c.4274+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 632345	NM_173076.3(ABCA12):c.693+1G>A	ABCA12	Single nucleotide variant (splice donor variant)	Congenital ichthyosis of skin	GUncertain significance
Select item 447175	NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)	COL4A3, MFF-DT (G174R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 551759	NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)	COL4A3, MFF-DT (G439S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 632353	NM_004369.4(COL6A3):c.7163-2A>G	COL6A3	Single nucleotide variant (splice acceptor variant)	Collagen 6-related myopathy	GUncertain significance
Select item 631852	NM_152783.5(D2HGDH):c.-92-2A>T	D2HGDH, LOC129936031	Single nucleotide variant (splice acceptor variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 631853	NM_152783.5(D2HGDH):c.998-2A>G	D2HGDH	Single nucleotide variant (splice acceptor variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 632407	NM_005677.4(COLQ):c.954+1G>A	COLQ	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 92913	NM_000404.4(GLB1):c.75+1G>C	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208570	NM_006371.5(CRTAP):c.471+2C>A	CRTAP	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta +3 more	GPathogenic/Likely pathogenic
Select item 631921	NM_020208.4(SLC6A20):c.1098+2T>C	SLC6A20	Single nucleotide variant (splice donor variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 632416	NM_020208.4(SLC6A20):c.354+2T>A	SLC6A20	Single nucleotide variant (splice donor variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 632417	NM_033629.6(TREX1):c.-26-1G>A	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 345869	NM_000094.4(COL7A1):c.1637-1G>A	COL7A1	Single nucleotide variant (splice acceptor variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 345943	NM_000387.6(SLC25A20):c.326+1del	SLC25A20	Deletion (splice donor variant)	SLC25A20-related disorder +2 more	GPathogenic
Select item 56233	NM_000481.4(AMT):c.471+2T>C	AMT	Single nucleotide variant (splice donor variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 631927	NM_004656.4(BAP1):c.1250+2T>G	BAP1	Single nucleotide variant (splice donor variant)	BAP1-related tumor predisposition syndrome	GUncertain significance

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