ClinVar (all) for Orgtrack (Select 500240) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664484	NM_007241.4(SNF8):c.304G>A (p.Val102Ile)	SNF8 (V102I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2664483	NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)	SNF8 (D121fs +3 more)	Indel (frameshift variant +1 more)	SNF8-associated disease	GPathogenic
Select item 2664482	NM_007241.4(SNF8):c.423-1G>C	SNF8	Single nucleotide variant (splice acceptor variant)	SNF8-associated disease	GPathogenic
Select item 2664481	NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)	SNF8 (R104L +3 more)	Single nucleotide variant (missense variant +1 more)	SNF8-associated disease	GPathogenic
Select item 2664480	NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)	SNF8 (P62L +1 more)	Single nucleotide variant (missense variant +2 more)	SNF8-associated disease	GPathogenic
Select item 2664479	NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)	SNF8 (G174D +3 more)	Single nucleotide variant (missense variant +1 more)	SNF8-associated disease	GPathogenic
Select item 2664478	NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)	SNF8 (Y150* +2 more)	Single nucleotide variant (nonsense +1 more)	SNF8-associated disease	GPathogenic
Select item 2584393	NM_002317.7(LOX):c.681C>G (p.Tyr227Ter)	LOX, SRFBP1 (Y227*)	Single nucleotide variant (5 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
Select item 2584392	NM_000899.5(KITLG):c.16-2A>G	KITLG	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 69	GLikely pathogenic
Select item 2584391	NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)	KDM5B (L899fs +3 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 2584390	NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)	KCNQ2 (G313R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GPathogenic/Likely pathogenic
Select item 2584389	NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)	KAT6A (N1836fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2584388	NM_002181.4(IHH):c.1A>G (p.Met1Val)	IHH (M1V)	Single nucleotide variant (missense variant +1 more)	Brachydactyly type A1A	GLikely pathogenic
Select item 2584387	NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)	HNF1B (S148*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2584386	NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)	HIVEP2 (Q1227fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2584385	NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)	GRIN2B (P1419L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GLikely pathogenic
Select item 2584384	NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)	GRIA3 (A650V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 2584383	NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr)	GRIA2 (N683Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2584382	NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)	ANKRD11 (R1076fs)	Microsatellite (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 2584381	NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg)	GNAO1 (G2R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GLikely pathogenic
Select item 2584380	NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)	GM2A (G122R)	Single nucleotide variant (missense variant)	Tay-Sachs disease, variant AB	GLikely pathogenic
Select item 2584379	NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)	FOXG1 (G267D)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 2584378	NM_001378454.1(ALMS1):c.9540-2A>G	ALMS1	Single nucleotide variant (splice acceptor variant)	Alstrom syndrome	GPathogenic
Select item 2584377	NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)	FBN1 (N1975K)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2584376	NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)	FA2H (G304C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2584375	NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)	ALDH7A1 (T303N +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 2584374	NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)	DNM1L (T59I)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 2584373	NM_005618.4(DLL1):c.1903del (p.Arg635fs)	DLL1 (R635fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 2584372	NM_033380.3(COL4A5):c.546+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 2584371	NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)	COL4A4 (G616R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 2584370	NM_001134831.2(AHI1):c.2266+1G>A	AHI1	Single nucleotide variant (splice donor variant)	Joubert syndrome 3	GPathogenic
Select item 2584369	NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)	COL4A1 (G52D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 2584368	NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)	CHD8 (L1175fs +1 more)	Insertion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2584367	NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)	CHD8 (D1278fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2584366	NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)	CHD7 (Y2601fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GPathogenic/Likely pathogenic
Select item 2584365	NM_001005273.3(CHD3):c.5092C>T (p.Arg1698Ter)	CHD3 (R1664* +2 more)	Single nucleotide variant (nonsense)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 2584364	NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)	CACNA1A (V496I +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 2584363	NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)	C19orf12 (A37fs)	Deletion (frameshift variant +2 more)	Neurodegeneration with brain iron accumulation 4 +1 more	GPathogenic/Likely pathogenic
Select item 2584362	NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)	BCOR (Q995*)	Single nucleotide variant (nonsense)	Oculofaciocardiodental syndrome	GPathogenic
Select item 2584361	NM_198535.3(ZNF699):c.1310_1311del (p.His437fs)	ZNF699 (H437fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 2584360	NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)	ZBTB18 (H466D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 2584359	NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)	YWHAG	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 56	GLikely pathogenic
Select item 2584358	NM_024426.6(WT1):c.1268A>G (p.Glu423Gly)	WT1 (E169G +10 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2584357	NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)	USP9X (C1733Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely pathogenic
Select item 2584356	NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)	TTR (D38Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 2584355	NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)	TTN, TTN-AS1 (D13239fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2584354	NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)	TTN, TTN-AS1 (Y16606* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2584353	NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)	TRIO (M1873I)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GLikely pathogenic
Select item 2584352	NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)	SYNGAP1, SYNGAP1-AS1 (N256S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 2584351	NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)	STXBP1 (Y518S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2584350	NM_025137.4(SPG11):c.3454-28A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 2584349	NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)	SOS1 (P102L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 2584348	NM_003051.4(SLC16A1):c.41del (p.Pro14fs)	SLC16A1 (P14fs)	Deletion (frameshift variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency	GLikely pathogenic
Select item 2584347	NM_015559.3(SETBP1):c.3802G>T (p.Gly1268Trp)	SETBP1 (G1268W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GLikely pathogenic
Select item 2584346	NM_001165963.4(SCN1A):c.801del (p.Gln267fs)	SCN1A (Q267fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 2584345	NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)	LOC102724058, SCN1A (R1511fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 2584344	NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)	RYR1 (C3304R)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 2584343	NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)	ARID2 (S297F)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2584342	NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)	MVP-DT, PRRT2 (K153fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1	GLikely pathogenic
Select item 2584341	NM_001353921.2(ARHGEF9):c.402+1G>C	ARHGEF9	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2584340	NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)	PHACTR1 (P70R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GLikely pathogenic
Select item 2584339	NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)	ARHGEF9 (H126fs +7 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 8	GPathogenic
Select item 2584338	NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)	PDHA1 (M155I +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2584337	NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)	LOC126807619, NSD1 (M1496V +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2584336	NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)	MYBPC3 (P893fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 2584335	NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)	MECP2 (P165fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GLikely pathogenic
Select item 2498743	NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)	NARS1 (E206K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443932	NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)	MEGF10 (C699S)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GLikely pathogenic
Select item 2134748	NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)	CDKL5 (L323*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 1898989	NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)	CLTC (T582M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GConflicting classifications of pathogenicity
Select item 1879276	NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)	NKX2-1, SFTA3 (Q54* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome +1 more	GPathogenic
Select item 1809700	NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)	SATB2 (Q409R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1805490	NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)	COL4A5 (G702R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804107	NM_033380.3(COL4A5):c.1481del (p.Gly494fs)	COL4A5 (G494fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1804106	NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)	COL4A5 (G319V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804105	NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)	COL4A5 (G307R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804104	NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)	COL4A5 (G273R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804103	NM_033380.3(COL4A5):c.609+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 1804102	NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg)	COL4A5 (G180R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804101	NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)	COL4A4 (L4fs)	Microsatellite (frameshift variant)	Benign familial hematuria	GLikely pathogenic
Select item 1804100	NM_001371928.1(AHDC1):c.3182del (p.Ser1061fs)	AHDC1 (S1061fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 1804099	NM_000092.5(COL4A4):c.2383+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1804098	NM_000092.5(COL4A4):c.3699_3706+1del	COL4A4	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 1804097	NM_000092.5(COL4A4):c.4809+1G>C	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1804096	NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)	COL4A3, MFF-DT (G955V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1804095	NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)	COL4A3, MFF-DT (G904E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1804094	NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)	COL4A3, MFF-DT (G853A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1804093	NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)	COL4A3, MFF-DT (G605V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1804092	NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)	COL4A3, MFF-DT (G124R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1804091	NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)	COL4A1 (G209S)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GPathogenic
Select item 1804090	NM_001845.6(COL4A1):c.1947_1959del (p.Ala650fs)	COL4A1 (A650fs)	Deletion (frameshift variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 1804089	NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)	COL4A1 (G1317V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1804088	NM_001845.6(COL4A1):c.4020dup (p.Gly1341fs)	COL4A1 (G1341fs)	Duplication (frameshift variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 1804087	NM_016284.5(CNOT1):c.434-2A>G	CNOT1	Single nucleotide variant (splice acceptor variant)	Vissers-Bodmer syndrome	GPathogenic
Select item 1804086	NM_016284.5(CNOT1):c.550del (p.Leu184fs)	CNOT1 (L184fs)	Deletion (frameshift variant +1 more)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 1804085	NM_005199.5(CHRNG):c.351-2A>G	CHRNG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive multiple pterygium syndrome +2 more	GLikely pathogenic
Select item 1804084	NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)	CHRNG	Duplication (inframe_insertion)	not provided +1 more	GLikely pathogenic
Select item 1804083	NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)	CHD7 (Q555*)	Single nucleotide variant (nonsense)	CHARGE syndrome	GPathogenic
Select item 1804082	NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)	CHD3 (F551fs +1 more)	Deletion (frameshift variant)	Snijders Blok-Campeau syndrome	GPathogenic
Select item 1804081	NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)	CDKL5 (L210fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic

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