Xeraea argentina - ClinVar - NCBI

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The following term was not found in ClinVar: Xeraea.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256916	NM_016011.5(MECR):c.406G>A (p.Gly136Arg)	MECR (G136R +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GUncertain significance
Select item 2430183	NM_006516.4(SLC2A1):c.1141del (p.Val381fs)	SLC2A1 (V381fs)	Deletion (frameshift variant)	Dystonia 9	GPathogenic
Select item 745206	NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +5 more	GLikely benign
Select item 1213914	NM_000329.3(RPE65):c.1451-2del	RPE65	Deletion (splice acceptor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 1213911	NM_000329.3(RPE65):c.1443del (p.Asp482fs)	RPE65 (D482fs)	Deletion (frameshift variant)	Retinitis pigmentosa 20	GPathogenic
Select item 1213916	NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)	RPE65 (S410*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20	GPathogenic
Select item 1213919	NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer)	RPE65	Deletion (nonsense)	Leber congenital amaurosis 2	GPathogenic
Select item 1213913	NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)	RPE65 (C231*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2	GPathogenic
Select item 1213910	NM_000329.3(RPE65):c.332C>A (p.Pro111His)	RPE65 (P111H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GUncertain significance
Select item 1213915	NM_000329.3(RPE65):c.314C>T (p.Thr105Ile)	RPE65 (T105I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2628044	NM_000350.3(ABCA4):c.5714+103A>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 1213853	NM_000350.3(ABCA4):c.4774-9G>A	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 1213859	NM_000350.3(ABCA4):c.4734_4739delinsCC (p.Phe1579fs)	ABCA4, LOC126805793 (F1579fs)	Indel (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 2628043	NM_000350.3(ABCA4):c.4540-1573C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 2628018	NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)	ABCA4, LOC126805794 (S1245fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 1213969	NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)	ABCA4 (S1099* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 1213869	NM_000350.3(ABCA4):c.2744-402G>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 1801222	NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser)	DCLRE1B (L16S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 8	GPathogenic
Select item 39458	NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	ADAR (G1007R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1213984	NM_201253.3(CRB1):c.750T>A (p.Cys250Ter)	CRB1 (C181* +1 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 12	GPathogenic
Select item 1213986	NM_201253.3(CRB1):c.1229G>A (p.Gly410Asp)	CRB1 (G298D +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 973360	NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)	CRB1	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa 12 +2 more	GLikely pathogenic
Select item 2061561	NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)	CACNA1S (L1656fs)	Deletion (frameshift variant)	Congenital myopathy 18 +3 more	GPathogenic
Select item 1213932	NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser)	USH2A (P4545S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 48355	NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	USH2A (T3571M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +7 more	GPathogenic/Likely pathogenic
Select item 1213933	NM_206933.4(USH2A):c.8681+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 1213942	NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)	USH2A (L2485*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +1 more	GPathogenic
Select item 374591	NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)	USH2A (G2295R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1213946	NM_206933.4(USH2A):c.6687T>G (p.Ser2229Arg)	USH2A (S2229R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GUncertain significance
Select item 1213939	NM_206933.4(USH2A):c.5292dup (p.Leu1765fs)	USH2A, USH2A-AS2 (L1765fs)	Duplication (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 1213936	NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)	USH2A (T1462P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1069779	NM_206933.4(USH2A):c.4251+1del	USH2A, USH2A-AS1	Deletion (splice donor variant)	Usher syndrome +3 more	GPathogenic/Likely pathogenic
Select item 48511	NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	USH2A, USH2A-AS1 (S1369L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +6 more	GConflicting classifications of pathogenicity
Select item 48495	NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)	USH2A, USH2A-AS1 (H1041Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	not specified +22 more	GConflicting classifications of pathogenicity
Select item 1213934	NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)	USH2A (G679*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 48476	NM_206933.4(USH2A):c.1841-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +5 more	GPathogenic
Select item 848645	NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)	USH2A (T529P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1213941	NM_206933.4(USH2A):c.1551-9T>A	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +1 more	GConflicting classifications of pathogenicity
Select item 1213938	NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)	USH2A (Y493C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 833899	NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)	USH2A (V480A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 334098	NM_000384.3(APOB):c.11466G>A (p.Val3822=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +9 more	GPathogenic/Likely pathogenic
Select item 523719	NM_000384.3(APOB):c.10163C>T (p.Thr3388Ile)	APOB (T3388I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 523718	NM_000384.3(APOB):c.814_816del (p.Tyr272del)	APOB (Y272del)	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1213944	NM_021831.6(AGBL5):c.938G>A (p.Arg313His)	AGBL5 (R313H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75 +1 more	GUncertain significance
Select item 974912	NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)	PPP1CB (M182K)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2 +1 more	GConflicting classifications of pathogenicity
Select item 1213961	NM_001029883.3(PCARE):c.2424del (p.Pro809fs)	PCARE (P809fs)	Deletion (frameshift variant)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 973351	NM_001029883.3(PCARE):c.1229del (p.Gln410fs)	PCARE (Q410fs)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 1049580	NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)	PCARE (L307*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic
Select item 1804174	NM_005633.4(SOS1):c.445G>A (p.Val149Ile)	SOS1 (V142I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 91090	NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	MSH2 (Q64fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 1213998	NM_001201543.2(FAM161A):c.1095T>G (p.Tyr365Ter)	FAM161A (Y365*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GPathogenic
Select item 1213955	NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs)	ALMS1 (L1116fs +1 more)	Duplication (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 1213959	NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)	ALMS1 (Q2909* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GPathogenic
Select item 1298347	NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp)	DCTN1 (G50D +1 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome	GConflicting classifications of pathogenicity
Select item 959907	NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly)	CNGA3 (D489G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1213857	NM_006343.3(MERTK):c.518A>G (p.Tyr173Cys)	MERTK (Y173C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 1213858	NM_006343.3(MERTK):c.734C>A (p.Ser245Tyr)	MERTK (S245Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 1300201	NM_001040142.2(SCN2A):c.4018G>A (p.Val1340Ile)	SCN2A (V1340I)	Single nucleotide variant (missense variant)	Epilepsy of infancy with migrating focal seizures	GLikely pathogenic
Select item 1300200	NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)	LOC102724058, SCN1A (F1017fs +5 more)	Duplication (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68570	NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	LOC102724058, SCN1A (A1772T +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +5 more	GPathogenic
Select item 1300202	NM_001165963.4(SCN1A):c.4284+1G>A	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 530487	NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	LOC102724058, SCN1A (S1335P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1213972	NM_201548.5(CERKL):c.497C>T (p.Pro166Leu)	CERKL (P166L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185593	NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu)	COL4A3, MFF-DT (G1167E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 585522	NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)	COL4A3, MFF-DT (V1550G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40619	NM_002880.4(RAF1):c.1467G>C (p.Leu489Phe)	RAF1 (L489F +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5	GUncertain significance
Select item 468343	NM_005677.4(COLQ):c.157dup (p.Leu53fs)	COLQ (L43fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 945	NM_000404.4(GLB1):c.176G>A (p.Arg59His)	GLB1 (R59H +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +7 more	GPathogenic/Likely pathogenic
Select item 201572	NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	SCN5A (F1616del +5 more)	Microsatellite (inframe_deletion)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 1185590	NM_015340.4(LARS2):c.1481dup (p.Leu495fs)	LARS2, LARS2-AS1 (L495fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 55872	NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)	LARS2 (T629M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 855140	NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)	GNAT1 (S120*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness autosomal dominant 3 +1 more	GConflicting classifications of pathogenicity
Select item 1224365	NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	POC1A (R179W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 545639	NM_001354604.2(MITF):c.355-1062G>C	MITF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +2 more	GPathogenic/Likely pathogenic
Select item 995923	NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	MITF (R231* +9 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1213854	NM_016247.4(IMPG2):c.3405_3408del (p.Glu1137fs)	IMPG2 (E1137fs)	Deletion (frameshift variant)	Retinitis pigmentosa 56	GPathogenic
Select item 1213852	NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter)	IMPG2 (Q856*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 56	GPathogenic
Select item 1213855	NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)	IQCB1 (W265* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis	GPathogenic
Select item 285623	NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	IQCB1 (R72*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +3 more	GPathogenic
Select item 2628032	NM_000539.3(RHO):c.400G>A (p.Glu134Lys)	RHO (E134K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 900513	NM_000539.3(RHO):c.754C>T (p.Arg252Cys)	RHO (R252C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 1213895	NM_000539.3(RHO):c.937-2A>G	RHO	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 590971	NM_003907.3(EIF2B5):c.1010A>G (p.His337Arg)	EIF2B5 (H337R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 590938	NM_003907.3(EIF2B5):c.1030C>T (p.Arg344Ter)	EIF2B5 (R344*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235098	NM_001177800.1(ADIPOQ):c.-1095G>T	ADIPOQ, LOC106660625	Single nucleotide variant	Adiponectin deficiency	Grisk factor
Select item 1341520	NM_003722.5(TP63):c.1789A>T (p.Ile597Phe)	TP63 (I418F +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders	GLikely pathogenic
Select item 1449634	NM_018192.4(P3H2):c.952C>T (p.Arg318Ter)	P3H2 (R137* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 198219	NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	OPA1 (K194fs +8 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2628042	NM_130837.3(OPA1):c.1361T>C (p.Leu454Ser)	OPA1 (L275S +9 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GUncertain significance
Select item 16337	NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 166606	NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)	WFS1 (E776V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +5 more	GBenign/Likely benign
Select item 4526	NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	WFS1 (E864K)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 802053	NM_006017.3(PROM1):c.1984-1G>T	PROM1	Single nucleotide variant (splice acceptor variant)	PROM1-related disorder +4 more	GPathogenic
Select item 1213882	NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter)	PROM1 (Y643* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 936195	NM_006017.3(PROM1):c.1500del (p.Ile500fs)	PROM1 (I491fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 41 +1 more	GPathogenic

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