ClinVar (all) for Orgtrack (Select 508087) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723227	NM_001365999.1(SZT2):c.7070T>A (p.Leu2357Ter)	SZT2 (L2300* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 1723226	NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)	WASHC5 (R226* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 8	GLikely pathogenic
Select item 1723225	NM_003620.4(PPM1D):c.1349T>G (p.Leu450Ter)	PPM1D (L450*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1723224	NM_001184.4(ATR):c.7597C>T (p.Arg2533Ter)	ATR (R2469* +1 more)	Single nucleotide variant (nonsense)	Seckel syndrome 1	GLikely pathogenic
Select item 1723223	NM_001364171.2(ODAD1):c.97C>T (p.Arg33Ter)	ODAD1 (R33*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 20	GLikely pathogenic
Select item 1723222	NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)	PIKFYVE (R302* +1 more)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GLikely pathogenic
Select item 1723221	NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)	SYNGAP1, SYNGAP1-AS1 (E1009* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 1723220	NM_006345.4(SLC30A9):c.543G>A (p.Trp181Ter)	SLC30A9 (W181*)	Single nucleotide variant (nonsense)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1723219	NM_002894.3(RBBP8):c.2474C>T (p.Ala825Val)	RBBP8 (A825V +1 more)	Single nucleotide variant (missense variant +1 more)	RBBP8-Related Disorders	GLikely pathogenic
Select item 1723218	NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)	TIMM50 (Q110*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria type 9	GLikely pathogenic
Select item 1723217	NM_000587.4(C7):c.614G>A (p.Trp205Ter)	C7 (W205*)	Single nucleotide variant (nonsense)	Complement component 7 deficiency	GLikely pathogenic
Select item 1723216	NM_007289.4(MME):c.838G>T (p.Glu280Ter)	MME (E280*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 1702982	NM_001930.4(DHPS):c.460_461del (p.Arg154fs)	DHPS (R112fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental disorder with seizures and speech and walking impairment	GLikely pathogenic
Select item 1702981	NM_001385012.1(NBEA):c.3362del (p.Asn1121fs)	NBEA (N1121fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 1691031	NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter)	CEP104, LOC126805586 (E627*)	Single nucleotide variant (nonsense)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 1686119	NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	RARS2 (Q289* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1682320	NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	AARS1 (W104*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1676662	NM_018451.5(CENPJ):c.2863G>T (p.Glu955Ter)	CENPJ (E955*)	Single nucleotide variant	Microcephaly 6, primary, autosomal recessive	GLikely pathogenic
Select item 1676661	NM_002296.4(LBR):c.235C>T (p.Arg79Ter)	LBR (R79*)	Single nucleotide variant	Pelger-Huët anomaly	GLikely pathogenic
Select item 1676660	NM_001370189.1(LRRC32):c.9C>A (p.Cys3Ter)	LRRC32 (C3*)	Single nucleotide variant	Cleft palate, proliferative retinopathy, and developmental delay	GLikely pathogenic
Select item 1676659	NM_005149.3(TBX19):c.688G>T (p.Glu230Ter)	TBX19 (E230*)	Single nucleotide variant	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 1676658	NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)	POLRMT (Y1153*)	Single nucleotide variant	Combined oxidative phosphorylation deficiency 55	GLikely pathogenic
Select item 1676323	NM_001913.5(CUX1):c.1681-1G>A	CUX1	Single nucleotide variant (splice acceptor variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1676322	NM_004403.3(GSDME):c.781C>T (p.Arg261Ter)	GSDME (R261* +1 more)	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1676321	NM_032930.3(CFAP300):c.430C>T (p.Arg144Ter)	CFAP300 (R144*)	Single nucleotide variant	Ciliary dyskinesia, primary, 38 +1 more	GPathogenic/Likely pathogenic
Select item 1676320	NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)	PI4KA (R596* +1 more)	Single nucleotide variant	PI4KA-related condition +1 more	GLikely pathogenic
Select item 1526275	NM_000138.5(FBN1):c.2354C>A (p.Pro785His)	FBN1 (P785H)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 1526274	NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu)	COL1A1 (G467E)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis	GLikely pathogenic
Select item 1526273	NM_001287.6(CLCN7):c.994A>G (p.Met332Val)	CLCN7 (M308V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2	GLikely pathogenic
Select item 1458867	NM_000204.5(CFI):c.1450_1454del (p.Leu484fs)	CFI (L465fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1455209	NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter)	HPS6 (R607*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 6 +1 more	GPathogenic/Likely pathogenic
Select item 1410963	NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter)	TCTN1 (K186* +3 more)	Single nucleotide variant (nonsense +2 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 1399926	NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)	RNASEH2B (Q58*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 1344893	NM_000942.5(PPIB):c.434_435del (p.Lys145fs)	PPIB, SNX22 (K145fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1344892	NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs)	WDR73 (L366fs)	Microsatellite (frameshift variant +1 more)	Galloway-Mowat syndrome 1	GLikely pathogenic
Select item 1344891	NM_000297.4(PKD2):c.41del (p.Asp14fs)	LOC129992813, PKD2 (D14fs)	Deletion (frameshift variant +1 more)	PKD2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1344890	NM_001270974.2(HYDIN):c.6344_6345dup (p.Ile2116fs)	HYDIN (I2116fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 1344889	NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)	DNAH5 (E4133*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1344888	NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter)	PIEZO1 (R103*)	Single nucleotide variant (nonsense)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 1344887	NM_025145.7(CFAP43):c.2658G>A (p.Trp886Ter)	CFAP43 (W886*)	Single nucleotide variant (nonsense)	Normal pressure hydrocephalus	GPathogenic
Select item 1344886	NM_001369.3(DNAH5):c.11571-1G>A	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1341525	NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs)	POLR3A (Q349fs)	Deletion (frameshift variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GLikely pathogenic
Select item 1341524	NM_000642.3(AGL):c.1383G>A (p.Trp461Ter)	AGL (W445* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 1341523	NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter)	SCN1A (G34* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1341522	NM_138711.6(PPARG):c.544C>T (p.Arg182Trp)	LOC114803475, PPARG (R182W +2 more)	Single nucleotide variant (missense variant +1 more)	Carotid intimal medial thickness 1 +2 more	GConflicting classifications of pathogenicity
Select item 1341521	NM_002971.6(SATB1):c.1779+680G>A	SATB1	Single nucleotide variant (intron variant +1 more)	Kohlschutter-Tonz syndrome-like +1 more	GConflicting classifications of pathogenicity
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 1341519	NM_001379081.2(FREM1):c.631C>T (p.Gln211Ter)	FREM1 (Q211* +1 more)	Single nucleotide variant (missense variant +2 more)	BNAR syndrome	GLikely pathogenic
Select item 1341518	NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu)	COL3A1 (P1165L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1341517	NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)	LMF1 (Q166* +3 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1341516	NM_000314.8(PTEN):c.494G>T (p.Gly165Val)	PTEN (G165V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1341515	NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs)	NPHP3, NPHP3-ACAD11 (S407fs)	Microsatellite (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome	GLikely pathogenic
Select item 1339495	NM_181783.4(TMTC3):c.1554del (p.Lys518fs)	TMTC3 (K287fs +4 more)	Deletion (frameshift variant +1 more)	Lissencephaly 8 +1 more	GPathogenic/Likely pathogenic
Select item 1339494	NM_001567.4(INPPL1):c.3466del (p.Arg1156fs)	INPPL1 (R1156fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
Select item 1339493	NM_001267550.2(TTN):c.38409del (p.Glu12804fs)	TTN (E12804fs)	Deletion (frameshift variant +1 more)	TTN-Related Disorders	GLikely pathogenic
Select item 1339492	NM_198503.5(KCNT2):c.175+1G>T	KCNT2	Single nucleotide variant (splice donor variant)	KCNT2-related condition	GLikely pathogenic
Select item 1339491	NM_018706.7(DHTKD1):c.1409del (p.Gly470fs)	DHTKD1 (G470fs)	Deletion (frameshift variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GPathogenic/Likely pathogenic
Select item 1339490	NM_014208.3(DSPP):c.1874_1877del (p.Asp625fs)	DSPP (D625fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 3	GLikely pathogenic
Select item 1339489	NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)	NOTCH3 (R587C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1339488	NM_198407.2(GHSR):c.545T>C (p.Val182Ala)	GHSR (V182A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1339487	NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)	CLCN1 (L629P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1339486	NM_014844.5(TECPR2):c.1751del (p.Gly584fs)	TECPR2 (G584fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic/Likely pathogenic
Select item 1339485	NM_018480.7(TMEM126B):c.421_422del (p.Val141fs)	TMEM126B (V111fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334393	NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs)	SHANK3 (A1289fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1334392	NM_017934.7(PHIP):c.4447C>T (p.Arg1483Ter)	IRAK1BP1, PHIP (R1483*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1334391	NM_182961.4(SYNE1):c.25717A>T (p.Lys8573Ter)	SYNE1 (K751* +3 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 3, myogenic type	GLikely pathogenic
Select item 1334390	NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter)	MTFMT (W153*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 15	GLikely pathogenic
Select item 1334389	NM_001376571.1(MADD):c.2383C>T (p.Arg795Ter)	MADD (R573* +2 more)	Single nucleotide variant (nonsense +2 more)	Deeah syndrome	GLikely pathogenic
Select item 1334388	NM_001042750.2(STAG2):c.2740C>T (p.Gln914Ter)	STAG2 (Q914*)	Single nucleotide variant (nonsense)	Mullegama-Klein-Martinez syndrome	GLikely pathogenic
Select item 1334387	NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter)	CPLANE1 (Q855*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334386	NM_138370.3(PKDCC):c.1127G>A (p.Trp376Ter)	PKDCC (W376*)	Single nucleotide variant (nonsense)	Rhizomelic limb shortening with dysmorphic features	GLikely pathogenic
Select item 1334385	NM_015021.3(ZNF292):c.870C>A (p.Tyr290Ter)	ZNF292 (Y150* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 1334384	NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter)	SCAPER (R112*)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 1334383	NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter)	DEPDC5 (Q1239* +6 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 1323716	NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)	TRNT1 (F167fs)	Deletion (frameshift variant +1 more)	TRNT1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 1323596	NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter)	SKIC2 (R1063*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1323566	NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	SCNN1B (E217fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 1320041	NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter)	PLEC (R2292* +6 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex, Ogna type +5 more	GPathogenic
Select item 1320040	NM_002524.5(NRAS):c.268T>C (p.Phe90Leu)	NRAS (F90L)	Single nucleotide variant (missense variant)	Focal-onset seizure +1 more	GConflicting classifications of pathogenicity
Select item 1301319	NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)	PCCA (Q248* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic
Select item 1206143	NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	LZTR1 (R697Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1204727	NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter)	MPDZ (R579*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GPathogenic
Select item 1076376	NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	P3H1 (Q280*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1075656	NM_006282.5(STK4):c.442C>T (p.Arg148Ter)	STK4 (R148*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1075545	NM_014363.6(SACS):c.1769_1770del (p.Val590fs)	SACS (V443fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic
Select item 1075395	NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)	LOXHD1 (Y101* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1073981	NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	HFE, HFE-AS1 (R48* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis +1 more	GPathogenic
Select item 1073123	NM_006859.4(LIAS):c.649C>T (p.Arg217Ter)	LIAS (R114* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipoic acid synthetase deficiency	GPathogenic
Select item 1072408	NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)	SPAST	Single nucleotide variant (stop lost +1 more)	Hereditary spastic paraplegia 4	GPathogenic/Likely pathogenic
Select item 1069700	NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)	LAMC3 (R1291*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1069510	NM_001042492.3(NF1):c.1908del (p.Ser637fs)	NF1 (S637fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1067299	NM_001018115.3(FANCD2):c.2494+2T>C	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1066704	NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)	SDHA (G212R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1027445	NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)	LAMA1 (R62*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic/Likely pathogenic
Select item 997260	NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)	PKD1 (Q2158*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 993689	NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs)	CHD7, LOC126860403 (N603fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 988685	NM_000202.8(IDS):c.814C>T (p.Gln272Ter)	IDS, LOC106050102 (Q182* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 986967	NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter)	ZNF142 (R255* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements +1 more	GPathogenic
Select item 985503	NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)	AHCY (R21C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 981392	NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)	ZNF292 (E1914fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +4 more	GPathogenic/Likely pathogenic

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