ClinVar (all) for Orgtrack (Select 506517) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993038	NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del)	ASPM (C1789del +1 more)	Microsatellite (inframe_deletion)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 993037	NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)	ASS1 (L160P)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic
Select item 993036	NM_017950.4(CCDC40):c.2832+360C>T	CCDC40 (R980*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 993035	NM_020198.3(CCDC47):c.567_570del (p.Glu190fs)	CCDC47 (E190fs)	Deletion (frameshift variant)	Trichohepatoneurodevelopmental syndrome	GLikely pathogenic
Select item 993034	NM_032040.5(CCDC8):c.963del (p.Ala323fs)	CCDC8 (A323fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 993033	NM_014956.5(CEP164):c.347del (p.Lys116fs)	CEP164 (K116fs)	Deletion (frameshift variant)	Nephronophthisis 15 +1 more	GBenign
Select item 993032	NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)	CEP290 (E1572*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 993031	NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser)	CFTR (T665S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 993030	NM_001369.3(DNAH5):c.11028+2T>C	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 993029	NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs)	TUBGCP6 (F1508fs)	Deletion (frameshift variant)	Microcephaly and chorioretinopathy 1	GLikely pathogenic
Select item 993028	NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)	UNC80 (R137*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic
Select item 993027	NM_020778.4(ALPK3):c.5019del	ALPK3	Deletion	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 993026	NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)	FRAS1 (Q411fs)	Duplication (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 993025	NM_005506.4(SCARB2):c.108dup (p.Ile37fs)	SCARB2 (I37fs)	Duplication (frameshift variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 993024	NM_004577.4(PSPH):c.340del (p.Ser114fs)	PSPH (S114fs)	Deletion (frameshift variant)	Deficiency of phosphoserine phosphatase	GLikely pathogenic
Select item 993023	NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)	RGS9BP (P108fs)	Indel (frameshift variant)	Bradyopsia	GPathogenic
Select item 993022	NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)	MPIG6B (A52fs)	Duplication (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 993021	NM_182895.5(SCARF2):c.25del (p.Ala9fs)	SCARF2 (A9fs)	Deletion (frameshift variant)	Van den Ende-Gupta syndrome	GLikely pathogenic
Select item 993020	NM_001673.5(ASNS):c.1137+1G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (splice donor variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	GPathogenic
Select item 993019	NM_001375380.1(EBF3):c.412-2A>T	EBF3	Single nucleotide variant (splice acceptor variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 993018	NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs)	EIF2AK3 (K362fs +1 more)	Deletion (frameshift variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 993017	NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)	FRAS1 (R2362*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 993016	NM_003506.4(FZD6):c.1393-2A>G	FZD6	Single nucleotide variant (splice acceptor variant)	Nonsyndromic congenital nail disorder 1	GLikely pathogenic
Select item 993015	NM_000174.5(GP9):c.404G>T (p.Cys135Phe)	GP9 (C135F)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GLikely pathogenic
Select item 993014	NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter)	MYO5B (S610*)	Single nucleotide variant (nonsense)	Congenital microvillous atrophy	GUncertain significance
Select item 993013	NM_001174089.2(SLC4A11):c.2018+1G>A	SLC4A11	Single nucleotide variant (splice donor variant)	Congenital hereditary endothelial dystrophy of cornea	GLikely pathogenic
Select item 993012	NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)	DNAJC19 (G28E +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 5	GLikely pathogenic
Select item 993011	NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)	ARID1B (Q1395* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 993010	NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter)	GRIN2B (C429*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 6	GLikely pathogenic
Select item 993009	NM_005797.4(MPZL2):c.226-1G>A	MPZL2	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 993008	NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)	ALDOB (W296*)	Single nucleotide variant (nonsense)	Hereditary fructosuria +1 more	GPathogenic/Likely pathogenic
Select item 993007	NM_004523.4(KIF11):c.895A>G (p.Ile299Val)	KIF11 (I299V)	Single nucleotide variant (missense variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 993006	NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn)	KNL1 (K846N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 993005	NM_153218.4(LACC1):c.268_272dup (p.Lys92fs)	LACC1 (K92fs)	Duplication (frameshift variant +1 more)	Juvenile arthritis due to defect in LACC1	GLikely pathogenic
Select item 993004	NM_001364905.1(LRBA):c.7850-1G>A	LRBA	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 993003	NM_015506.3(MMACHC):c.616del (p.Arg206fs)	LOC129930446, MMACHC (R149fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 993002	NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs)	MPDZ (L501fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 993001	NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)	MTMR2 (Y507fs +1 more)	Indel (frameshift variant)	Charcot-Marie-Tooth disease type 4B1	GPathogenic
Select item 993000	NM_004713.6(NEMF):c.574+1G>T	NEMF	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GLikely pathogenic
Select item 992999	NM_002547.3(OPHN1):c.1105-13_1109del	OPHN1	Deletion (splice acceptor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 992998	NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)	PKD1 (T2424R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 992997	NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)	PKD1 (T2355P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 992996	NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)	SMARCA2 (I518T)	Single nucleotide variant (missense variant)	SMARCA2-related disorder	GLikely pathogenic
Select item 992995	NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)	PCDH15 (Q170* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 992994	NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)	MMUT (S262I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 992993	NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)	KANSL1 (Q967* +1 more)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 992992	NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp)	NKX2-1, SFTA3 (R165W +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 992991	NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)	NPR2, SPAG8 (R1020Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 992990	NM_012144.4(DNAI1):c.1311+2T>A	DNAI1	Single nucleotide variant (splice donor variant)	Kartagener syndrome	GPathogenic
Select item 992989	NM_001267550.2(TTN):c.28462+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GConflicting classifications of pathogenicity
Select item 992988	NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)	NEK1 (E745* +6 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 992987	NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)	COL4A1 (L1006F)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 992986	NM_000383.4(AIRE):c.44G>A (p.Arg15His)	AIRE (R15H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 992985	NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)	WRN (Q608*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 992984	NM_001164277.2(SLC37A4):c.985+1G>A	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 992983	NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer)	NIPBL	Microsatellite (nonsense)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 992982	NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)	ABCA3 (Y1515*)	Single nucleotide variant (nonsense)	Hereditary pulmonary alveolar proteinosis +1 more	GPathogenic
Select item 992981	NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)	ALOX12B, LOC130060196 (I277N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 992980	NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)	ANKRD11 (Q1813*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 992979	NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs)	ANKRD26 (V1700fs +1 more)	Deletion (frameshift variant)	Thrombocytopenia 2	GUncertain significance
Select item 992978	NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 992977	NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)	LOC129992813, PKD2 (S39fs)	Indel (non-coding transcript variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 992976	NM_002662.5(PLD1):c.498del (p.Ser167fs)	PLD1 (S167fs)	Deletion (frameshift variant)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 992975	NM_013382.7(POMT2):c.311A>T (p.Asp104Val)	POMT2 (D104V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 992974	NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)	PRG4	Microsatellite (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 992973	NM_031229.4(RBCK1):c.461-2A>G	RBCK1	Single nucleotide variant (splice acceptor variant)	Polyglucosan body myopathy type 1	GLikely pathogenic
Select item 992972	NM_003721.4(RFXANK):c.713-1G>A	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GPathogenic/Likely pathogenic
Select item 992971	NM_003721.4(RFXANK):c.271+1delinsTCAC	RFXANK	Indel (splice donor variant)	MHC class II deficiency	GPathogenic
Select item 992970	NM_178857.6(RP1L1):c.5033del (p.Ala1678fs)	RP1L1 (A1678fs)	Deletion (frameshift variant)	Occult macular dystrophy	GLikely pathogenic
Select item 992969	NM_000975.5(RPL11):c.465_466del (p.His155fs)	RPL11 (H154fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic
Select item 992968	NM_000330.4(RS1):c.215A>G (p.Glu72Gly)	CDKL5, RS1 (E72G)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 992967	NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)	SLC5A1 (C128W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 992966	NM_005585.5(SMAD6):c.592del (p.Arg198fs)	SMAD6 (R198fs)	Deletion (frameshift variant +1 more)	Craniosynostosis 7	GLikely pathogenic
Select item 992965	NM_145207.3(AFG2A):c.1741A>T (p.Lys581Ter)	AFG2A (K580* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 992964	NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)	TAFAZZIN (S214* +4 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 992963	NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro)	KIF14 (L14P +1 more)	Single nucleotide variant (missense variant)	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	GLikely pathogenic
Select item 992962	NM_005045.4(RELN):c.6314del (p.Phe2105fs)	RELN (F2105fs)	Deletion (frameshift variant)	Familial temporal lobe epilepsy 7	GLikely pathogenic
Select item 982131	NM_000271.5(NPC1):c.2130+1G>A	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 982109	NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	GAA (Q553*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic
Select item 871084	NM_001029883.3(PCARE):c.1541del (p.Pro514fs)	PCARE (P514fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 864866	NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)	TUBA1A (R285C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 843989	NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)	FANCG (R257G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GConflicting classifications of pathogenicity
Select item 828175	NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter)	APOB (C4353*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1	GUncertain significance
Select item 828174	NM_000551.4(VHL):c.508G>C (p.Val170Leu)	LOC107303340, VHL (V129L +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 828173	NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)	PDHA1 (V178L +2 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 828172	NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)	ARID1B (Q716* +1 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 828171	NM_002880.4(RAF1):c.659_660del (p.Ser220fs)	RAF1 (S139fs +1 more)	Deletion (frameshift variant +2 more)	Noonan syndrome 5	GUncertain significance
Select item 828170	NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)	ADNP (Q423fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 828169	NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr)	RUNX2 (C123Y +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 828168	NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr)	MTHFR (I259T +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 828167	NM_052859.4(RFT1):c.749C>T (p.Ser250Phe)	RFT1 (S250F)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 828166	NM_005149.3(TBX19):c.608C>T (p.Thr203Met)	TBX19 (T203M)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 828165	NM_016180.5(SLC45A2):c.870del (p.Asn290fs)	SLC45A2 (N290fs)	Deletion (frameshift variant +1 more)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR	GPathogenic
Select item 828164	NM_203475.3(PORCN):c.329+1G>A	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 828163	NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)	LZTFL1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Bardet-Biedl syndrome 17	GLikely pathogenic
Select item 828162	NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys)	HUWE1 (R1996C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 828161	NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn)	SPTA1 (T540N)	Single nucleotide variant (missense variant)	Elliptocytosis 2	GUncertain significance
Select item 828160	NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu)	PAX1 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 828159	NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys)	GDF5, GDF5-AS1 (R361C)	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome +1 more	GUncertain significance
Select item 828158	NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)	IDH2 (A217T +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GLikely pathogenic

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