"moi sporadic"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692090	NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe)	DVL1 (S246F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 1695374	NM_003036.4(SKI):c.350G>A (p.Gly117Asp)	SKI (G117D)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely pathogenic
Select item 1708557	NM_001042681.2(RERE):c.2794C>G (p.Pro932Ala)	RERE (P378A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 214652	NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	MFN2 (T105M)	Single nucleotide variant (missense variant)	Cerebellar ataxia +3 more	GPathogenic/Likely pathogenic
Select item 245809	NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)	MFN2 (R280C)	Single nucleotide variant (missense variant)	Multiple system atrophy, cerebellar type +1 more	GLikely pathogenic
Select item 446368	NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del)	MFN2 (A383del)	Microsatellite (inframe_deletion)	Neuropathy, hereditary motor and sensory, type 6A +1 more	GUncertain significance
Select item 1048590	NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)	MFN2 (A608T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1301995	NM_015001.3(SPEN):c.4345G>T (p.Glu1449Ter)	SPEN (E1449*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 451410	NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly)	KDM1A (D399G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 585204	NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)	AHDC1 (D1457G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 431102	NM_001371928.1(AHDC1):c.3814C>T (p.Arg1272Ter)	AHDC1 (R1272*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 1341366	NM_001371928.1(AHDC1):c.2036del (p.Gly679fs)	AHDC1 (G679fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 431110	NM_001020658.2(PUM1):c.1158+1_1158+2dup	PUM1	Duplication (splice donor variant)	Intellectual disability	GUncertain significance
Select item 430853	NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)	ADGRB2 (R1465W +1 more)	Single nucleotide variant (missense variant)	Progressive spastic paraparesis	GLikely pathogenic
Select item 1299762	NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)	AGO1 (L115R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 1299763	NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)	AGO1 (G124S +1 more)	Single nucleotide variant (missense variant)	AGO1-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1299764	NM_012199.5(AGO1):c.758G>A (p.Arg253His)	AGO1, LOC129930123 (R178H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300186	NM_012199.5(AGO1):c.760G>A (p.Val254Ile)	AGO1, LOC129930123 (V179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300188	NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)	AGO1 (I722F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 870347	NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)	SLC2A1 (T310I)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +1 more	GLikely pathogenic
Select item 16117	NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	SLC2A1 (R93W)	Single nucleotide variant (missense variant)	SLC2A1-related disorder +4 more	GPathogenic
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 431107	NM_001370785.2(LRRC7):c.3630T>G (p.Tyr1210Ter)	LRRC7, LRRC7-AS1 (Y1177* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability	GUncertain significance
Select item 298140	NM_053274.3(GLMN):c.761C>G (p.Pro254Arg)	GLMN (P254R)	Single nucleotide variant (missense variant +1 more)	Blue rubber bleb nevus +1 more	GConflicting classifications of pathogenicity
Select item 929304	NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser)	ABCA4 (P927S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 929305	NM_000350.3(ABCA4):c.1248_1554+248del	ABCA4	Deletion (splice acceptor variant +1 more)	Stargardt disease 3	GLikely pathogenic
Select item 1012291	NM_000642.3(AGL):c.412G>A (p.Gly138Arg)	AGL (G122R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 432840	NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)	COL11A1 (T1554M +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +2 more	GConflicting classifications of pathogenicity
Select item 816626	NM_001378969.1(KCND3):c.1076G>T (p.Trp359Leu)	KCND3 (W359L)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 1029934	NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)	ATP1A1, ATP1A1-AS1 (L813P +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GLikely pathogenic
Select item 619298	NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg)	ATP1A1, ATP1A1-AS1 (W931R +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GPathogenic
Select item 1679519	NM_015100.4(POGZ):c.2545+2del	POGZ	Deletion (splice donor variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 3233282	NM_015100.4(POGZ):c.2162C>G (p.Ser721Ter)	POGZ (S626* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 375571	NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro)	POGZ (L576P +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 983278	NM_020699.4(GATAD2B):c.1417C>T (p.Gln473Ter)	GATAD2B (Q473*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 375617	NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser)	GATAD2B (N385S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525984	NM_018489.3(ASH1L):c.7408C>T (p.Pro2470Ser)	ASH1L (P2470S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 60506	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1 (A57G +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +7 more	GPathogenic
Select item 587365	NM_006182.4(DDR2):c.1829T>C (p.Leu610Pro)	DDR2 (L610P)	Single nucleotide variant (missense variant)	Warburg-cinotti syndrome	GPathogenic
Select item 1684154	NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)	NUF2 (L303P)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 1710913	NM_002585.4(PBX1):c.320G>A (p.Arg107Gln)	PBX1 (R107Q +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 869211	NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	KLHL20 (G357R)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 2505168	NM_001357.5(DHX9):c.1240G>A (p.Gly414Arg)	DHX9 (G414R)	Single nucleotide variant (missense variant +1 more)	DHX9-related disorder	GLikely pathogenic
Select item 236299	NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu)	KCNT2 (F240L)	Single nucleotide variant (missense variant +1 more)	KCNT2-related disorder	GPathogenic
Select item 695094	NM_198503.5(KCNT2):c.143_144del (p.Leu48fs)	KCNT2 (L48fs)	Deletion (frameshift variant +1 more)	Seizure	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1300138	NM_003238.6(TGFB2):c.1012C>A (p.Pro338Thr)	TGFB2 (P338T +1 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 1	GPathogenic
Select item 983152	NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln)	WDR26 (R494Q +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 1712271	NM_001379403.1(WDR26):c.834_838del (p.Asp278fs)	WDR26 (D178fs +1 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 196110	NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)	RYR2 (R1119H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 431091	NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter)	ZBTB18 (R48* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 208690	NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)	ZBTB18 (N461S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2446378	NM_022552.5(DNMT3A):c.1012_1014+3del	DNMT3A	Deletion (splice donor variant)	Heyn-Sproul-Jackson syndrome	GPathogenic
Select item 1065568	NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)	DNMT3A (K112R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1707617	NM_001135651.3(EIF2AK2):c.1631A>G (p.Glu544Gly)	EIF2AK2 (E503G +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GUncertain significance
Select item 545576	NM_005413.4(SIX3):c.441_451del (p.Leu148fs)	SIX3 (L148fs)	Deletion (frameshift variant)	Holoprosencephaly 2	GPathogenic
Select item 1013599	NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)	FBXO11 (G462E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2574572	NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)	BCL11A (L100W +6 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 941160	NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)	DCTN1 (V1114M +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2431339	NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter)	FOXI3 (R415*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1986646	NM_001135649.3(FOXI3):c.1105AGCAATAGCACC[1] (p.369SNST[1])	FOXI3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2431342	NM_001135649.3(FOXI3):c.707G>A (p.Arg236Gln)	FOXI3 (R236Q)	Single nucleotide variant (missense variant)	Hemifacial microsomia	GLikely pathogenic
Select item 2430158	NM_001135649.3(FOXI3):c.703C>T (p.Arg235Cys)	FOXI3 (R235C)	Single nucleotide variant (missense variant)	Hemifacial microsomia	GLikely pathogenic
Select item 1301907	NM_006236.3(POU3F3):c.1084C>A (p.Arg362Ser)	POU3F3 (R362S)	Single nucleotide variant (missense variant)	Snijders blok-fisher syndrome	GPathogenic
Select item 619079	NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)	ZEB2 (E235* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1684581	NM_001378120.1(MBD5):c.295C>G (p.Leu99Val)	MBD5 (L99V)	Single nucleotide variant (missense variant)	Hypotonia	GUncertain significance
Select item 827673	NM_001040142.2(SCN2A):c.164A>C (p.Asp55Ala)	SCN2A (D55A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 1048587	NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)	LOC102724058, SCN1A (R1047W +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GPathogenic/Likely pathogenic
Select item 812511	NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)	LOC102724058, SCN1A (R825G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 68553	NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	LOC102724058, SCN1A (R1585C +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 983217	NM_001165963.4(SCN1A):c.4064T>G (p.Leu1355Arg)	LOC102724058, SCN1A (L1326R +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely pathogenic
Select item 812186	NM_001165963.4(SCN1A):c.4024G>T (p.Gly1342Ter)	SCN1A, LOC102724058 (G1314* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 917889	NM_001165963.4(SCN1A):c.3526G>T (p.Glu1176Ter)	LOC102724058, SCN1A (E1176* +5 more)	Single nucleotide variant (nonsense +1 more)	Seizure	GPathogenic
Select item 265406	NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs)	LOC102724058, SCN1A (K1114fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 68523	NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)	SCN1A (R935H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 189844	NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	SCN1A (R854* +5 more)	Single nucleotide variant (nonsense +1 more)	Seizure +3 more	GPathogenic
Select item 68592	NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	SCN1A (R848C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic
Select item 1064524	NM_001165963.4(SCN1A):c.1807_1808del (p.Ser603fs)	SCN1A (S602fs +1 more)	Microsatellite (frameshift variant +2 more)	Seizure	GPathogenic
Select item 870349	NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)	SCN1A (R497fs +1 more)	Deletion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 812176	NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro)	SCN1A (A121P)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1801821	NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)	SCN1A (T105N)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1703037	NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)	TTN, TTN-AS1 (Q26453* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2573193	NM_001267550.2(TTN):c.78089_78090insC (p.Lys26030fs)	TTN, TTN-AS1 (K16965fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2573192	NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)	TTN, TTN-AS1 (R11418H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 192168	NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr)	TTN (A12579T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 834055	NM_013436.5(NCKAP1):c.3240_3241del (p.Asn1080fs)	NCKAP1 (N1080fs +1 more)	Deletion (frameshift variant)	Autistic behavior	GPathogenic
Select item 561178	NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)	COL3A1 (E451K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 437864	NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)	SATB2 (W225*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1699990	NM_020919.4(ALS2):c.142C>G (p.Leu48Val)	ALS2 (L48V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 333642	NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)	BMPR2 (V348I)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 1708558	NM_001204.7(BMPR2):c.1429A>G (p.Lys477Glu)	BMPR2 (K477E)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 1	GLikely pathogenic
Select item 1704308	NM_212482.4(FN1):c.7144+1G>A	ATIC, FN1	Single nucleotide variant (splice donor variant)	Glomerulopathy with fibronectin deposits 2	GLikely pathogenic
Select item 916050	NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)	CUL3 (S523fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2445419	NM_003590.5(CUL3):c.1419_1425delinsTAAAC (p.Met473fs)	CUL3 (M407fs +2 more)	Indel (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 532860	NM_001244008.2(KIF1A):c.3286C>T (p.Arg1096Cys)	KIF1A (R1096C +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 162060	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A (R316W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +6 more	GPathogenic/Likely pathogenic
Select item 162059	NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)	KIF1A (E253K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic

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