ClinVar (all) for Orgtrack (Select 505944) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064128	NM_001012614.2(CTBP1):c.263G>T (p.Gly88Val)	CTBP1 (G88V +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 3064127	NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)	B4GALNT1 (A112E +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26	GLikely pathogenic
Select item 3064126	NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)	FGFR1 (P570R +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 3064125	NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)	ATRX (R1623C +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 3064124	NM_004115.4(FGF14):c.194-1G>C	FGF14	Single nucleotide variant (splice acceptor variant +1 more)	Spinocerebellar ataxia 27A	GLikely pathogenic
Select item 3064123	NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)	PHKA2 (V1088M)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 3064122	NM_130839.5(UBE3A):c.1928G>A (p.Gly643Glu)	SNHG14, UBE3A (G206E +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 3064121	NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)	MECP2 (E143G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GUncertain significance
Select item 3064120	NM_022167.4(XYLT2):c.2443G>T (p.Glu815Ter)	XYLT2 (E815*)	Single nucleotide variant (nonsense +1 more)	Spondylo-ocular syndrome	GUncertain significance
Select item 3064119	NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)	SRRM2 (S395fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 3064118	NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)	COL4A1 (G1411E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 3064117	NM_001271838.2(RSRC1):c.332del (p.Arg111fs)	RSRC1 (R111fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 70	GLikely pathogenic
Select item 3064116	NM_005660.3(SLC35A2):c.998G>A (p.Gly333Asp)	SLC35A2 (G272D +3 more)	Single nucleotide variant (intron variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 3064115	NM_014516.4(CNOT3):c.1373dup (p.Ser459fs)	CNOT3 (S459fs)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 3064114	NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)	ADA2 (W162* +2 more)	Single nucleotide variant (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 3064113	NM_001287491.2(TET3):c.2684del (p.Ile895fs)	TET3 (I802fs +1 more)	Deletion (frameshift variant)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3064112	NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)	SHANK3 (H1064fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3064111	NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)	PKD1 (Q3440* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3064110	NM_004523.4(KIF11):c.489del (p.Tyr164fs)	KIF11 (Y164fs)	Deletion (frameshift variant)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 3064109	NM_001942.4(DSG1):c.788A>G (p.Asn263Ser)	DSG1 (N263S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma i, striate, focal, or diffuse	GUncertain significance
Select item 3064108	NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)	STXBP1 (D327V +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 3064107	NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)	DDX3X (K266* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3029798	NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)	NIPBL (K927fs)	Deletion (frameshift variant)	NIPBL-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2683988	NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)	CREBBP (S1326G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 2683987	NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)	FBXO11 (G419R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2683986	NM_001792.5(CDH2):c.1344+5G>T	CDH2	Single nucleotide variant (intron variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	GUncertain significance
Select item 2683985	NM_000179.3(MSH6):c.3067G>C (p.Glu1023Gln)	MSH6 (E1023Q +9 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +1 more	GUncertain significance
Select item 2683984	NM_153252.5(BRWD3):c.296G>T (p.Gly99Val)	BRWD3 (G99V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 2683983	NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)	GLA, RPL36A-HNRNPH2 (Y222* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease	GPathogenic
Select item 2683982	NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)	PDE6B (I357N +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 2683981	NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)	RPGR (Q66R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 2683980	NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)	PROS1 (C120Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 2683979	NM_000313.4(PROS1):c.122G>A (p.Arg41His)	PROS1 (R41H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2683978	NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)	F13A1 (R78C)	Single nucleotide variant (missense variant)	F13A1-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2683977	NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)	SERPINC1 (I381T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2683976	NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)	PROS1 (Q362R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2683975	NM_000133.4(F9):c.959A>G (p.Glu320Gly)	F9 (E282G +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2683974	NM_000506.5(F2):c.1088G>A (p.Arg363His)	F2 (R363H)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 2683973	NM_000488.4(SERPINC1):c.1219-1G>A	SERPINC1	Single nucleotide variant (splice acceptor variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2683972	NM_000312.4(PROC):c.1005G>C (p.Gln335His)	PROC (Q316H +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683971	NM_000133.4(F9):c.68T>C (p.Leu23Pro)	F9 (L23P)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 2683970	NM_000312.4(PROC):c.382G>C (p.Gly128Arg)	PROC (G120R +6 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683969	NM_000130.5(F5):c.6048+5G>T	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GUncertain significance
Select item 2683968	NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)	PROS1 (D278Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2683967	NM_000133.4(F9):c.1084A>G (p.Lys362Glu)	F9 (K324E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2683966	NM_000312.4(PROC):c.989T>C (p.Leu330Pro)	PROC (L311P +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683965	NM_018489.3(ASH1L):c.2668A>G (p.Arg890Gly)	ASH1L (R890G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2683964	NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)	F8 (S17P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2683963	NM_000132.4(F8):c.6821T>C (p.Met2274Thr)	F8 (M139T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2683962	NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)	SERPINC1 (L157P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2683961	NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)	ENG (I177T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 2683960	NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)	ENG, LOC102723566 (E286* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 2683959	NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)	ACVRL1 (P271fs +4 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2683958	NM_022454.4(SOX17):c.245A>G (p.Glu82Gly)	SOX17 (E82G)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 3	GLikely pathogenic
Select item 2683957	NM_000278.5(PAX2):c.212G>T (p.Arg71Met)	PAX2 (R102M +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2683956	NM_016341.4(PLCE1):c.4301G>A (p.Arg1434Gln)	PLCE1 (R1126Q +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GLikely pathogenic
Select item 2683955	NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)	PKD1 (T3276I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2683954	NM_001376.5(DYNC1H1):c.2234C>T (p.Thr745Ile)	DYNC1H1 (T745I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2683953	NM_024079.5(ALG8):c.544C>T (p.Gln182Ter)	ALG8 (Q10* +6 more)	Single nucleotide variant (nonsense)	Polycystic liver disease 3 with or without kidney cysts	GLikely pathogenic
Select item 2683952	NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)	COL4A4 (G252A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2683951	NM_000297.4(PKD2):c.316del (p.Glu106fs)	LOC129992813, PKD2 (E106fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2683950	NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)	PKD1 (D2418fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2683949	NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter)	DNAAF2 (E603*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 10	GLikely pathogenic
Select item 2683948	NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)	PKD2 (F598fs)	Indel (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2683947	NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome	GLikely pathogenic
Select item 2683946	NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)	PKD1 (C2495Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2683945	NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)	PKD1 (E2494K)	Single nucleotide variant (missense variant)	PKD1-related condition +1 more	GUncertain significance
Select item 2683944	NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)	PKD1 (R1427fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2683943	NM_006593.4(TBR1):c.691A>G (p.Arg231Gly)	TBR1 (R231G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 2683942	NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)	PKD1 (P6fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2683941	NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)	MYH9 (K395T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 2683940	NM_000054.7(AVPR2):c.993dup (p.Val332fs)	AVPR2 (V332fs)	Duplication (frameshift variant +2 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 2683939	NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)	PKD1, PKD1-AS1	Microsatellite (inframe_insertion)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2683938	NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)	PKD1 (F2232fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2683937	NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)	COL4A5 (N1525S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2683936	NM_004621.6(TRPC6):c.2091C>A (p.His697Gln)	TRPC6 (H697Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 2683935	NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)	PKD1 (L2691Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2683934	NM_001009944.3(PKD1):c.81del (p.Arg28fs)	PKD1 (R28fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2683933	NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)	MPZ (G72E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 2683932	NM_001353345.2(SETD1B):c.5263A>G (p.Ile1755Val)	SETD1B (I1755V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2683931	NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)	MFN2 (E539K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 2683930	NM_001693.4(ATP6V1B2):c.1241A>T (p.Asp414Val)	ATP6V1B2 (D414V)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2	GUncertain significance
Select item 2683929	NM_003108.4(SOX11):c.1148del (p.Gly383fs)	SOX11 (G383fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2683928	NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)	KMT5B (R155* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 2683927	NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)	LINS1 (W286* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 2683926	NM_001365902.3(NFIX):c.1459del (p.Asp487fs)	NFIX (D479fs +9 more)	Deletion (frameshift variant)	Marshall-Smith syndrome	GLikely pathogenic
Select item 2683925	NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)	TGFBR2 (L230Q +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 2683924	NM_001032221.6(STXBP1):c.325+5G>A	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2683923	NM_001079872.2(CUL4B):c.1444-1G>A	CUL4B	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2683922	NM_000531.6(OTC):c.1031A>T (p.Asp344Val)	OTC (D344V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2683921	NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)	KMT2A (R2656fs +2 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2683920	NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)	CACNA1A (A868fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 2683919	NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)	CHD2 (E922A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 2683918	NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)	CHD8 (I608V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2683917	NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)	CACNA1A (A1261T +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2683916	NM_003482.4(KMT2D):c.12735_12748del (p.Glu4245fs)	KMT2D (E4245fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2683915	NM_005611.4(RBL2):c.574C>T (p.Arg192Ter)	RBL2 (R118* +1 more)	Single nucleotide variant (nonsense)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 2683914	NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)	MYO15A (C2236*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2683913	NM_016239.4(MYO15A):c.343del (p.Arg115fs)	MYO15A (R115fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2683912	NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)	MFN2 (Y752N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance

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