ClinVar (all) for Orgtrack (Select 509214) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342300	NM_000458.4(HNF1B):c.1312C>T (p.Leu438Phe)	HNF1B (L412F +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3342299	NM_002471.4(MYH6):c.1463A>G (p.Gln488Arg)	MYH6 (Q488R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3342298	NM_033380.3(COL4A5):c.3703G>A (p.Gly1235Ser)	COL4A5 (G1235S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3342297	NM_182931.3(KMT2E):c.1130+3A>G	KMT2E	Single nucleotide variant (intron variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 3342296	NM_173660.5(DOK7):c.772+2T>G	DOK7, LOC129992118	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 10	GUncertain significance
Select item 3342295	NM_016203.4(PRKAG2):c.1234-2A>G	PRKAG2	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 6	GUncertain significance
Select item 3342294	NM_012330.4(KAT6B):c.1040dup (p.Asn347fs)	KAT6B (N347fs)	Duplication (frameshift variant +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GLikely pathogenic
Select item 3342293	NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)	PKD1 (Y2114H)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3342292	NM_000208.4(INSR):c.3498G>C (p.Met1166Ile)	INSR (M1154I +1 more)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GLikely pathogenic
Select item 3342291	NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter)	COL4A4 (W522*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3342290	NM_198334.3(GANAB):c.199_200del (p.Leu67fs)	GANAB (L67fs)	Microsatellite (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3342289	NM_000875.5(IGF1R):c.986C>G (p.Pro329Arg)	IGF1R, LOC126862245 (P329R)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 3342288	NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)	PKD1 (W18R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3342287	NM_024685.4(BBS10):c.1183C>G (p.His395Asp)	BBS10 (H395D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3342286	NM_024685.4(BBS10):c.703A>T (p.Ile235Phe)	BBS10 (I235F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3342285	NM_002471.4(MYH6):c.5645G>T (p.Arg1882Leu)	MYH6 (R1882L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3342284	NM_003647.3(DGKE):c.156G>C (p.Arg52Ser)	DGKE (R52S)	Single nucleotide variant (missense variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis	GUncertain significance
Select item 3342283	NM_001303256.3(MORC2):c.1196C>G (p.Pro399Arg)	MORC2 (P337R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 3342282	NM_001267550.2(TTN):c.12321del (p.Pro4108fs)	TTN (P3745fs +4 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3342281	NM_006087.4(TUBB4A):c.638G>A (p.Arg213His)	TUBB4A (R141H +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 3342280	NM_000278.5(PAX2):c.959dup (p.His321fs)	PAX2 (H321fs +2 more)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 3342279	NM_000525.4(KCNJ11):c.985G>A (p.Asp329Asn)	KCNJ11 (D242N +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13	GUncertain significance
Select item 3342278	NM_001366521.1(ATP2B1):c.2682G>A (p.Met894Ile)	ATP2B1 (M707I +7 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3342277	NM_033380.3(COL4A5):c.446C>T (p.Pro149Leu)	COL4A5 (P149L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3342276	NM_002905.5(RDH5):c.878C>G (p.Pro293Arg)	BLOC1S1-RDH5, CD63 +1 more (P293R)	Single nucleotide variant (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 3342275	NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)	COL4A3, MFF-DT (G614E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3342274	NM_001369268.1(ACAN):c.2112dup (p.Val705fs)	ACAN (V705fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 3342273	NM_001271.4(CHD2):c.2636C>G (p.Ala879Gly)	CHD2 (A879G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3342272	NM_016306.6(DNAJB11):c.258C>G (p.Tyr86Ter)	DNAJB11 (Y86*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 3342271	NM_000092.5(COL4A4):c.3515G>T (p.Gly1172Val)	COL4A4 (G1172V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3342270	NM_000330.4(RS1):c.375_389del (p.Asp126_Ile130del)	CDKL5, RS1	Deletion (inframe_deletion +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 3342269	NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)	PKD1 (V49G)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3342268	NM_000092.5(COL4A4):c.4630G>C (p.Ala1544Pro)	COL4A4 (A1544P)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3342267	NM_016306.6(DNAJB11):c.763_767del (p.Arg254_Gly255insTer)	DNAJB11	Microsatellite (nonsense +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3342266	NM_001348800.3(ZBTB20):c.348_361del (p.His118fs)	ZBTB20 (H118fs +1 more)	Deletion (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 3342265	NM_024496.4(IRF2BPL):c.202_272del (p.Arg68fs)	IRF2BPL, LOC107984638 (R68fs)	Deletion (non-coding transcript variant +1 more)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 3342264	NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)	PKD1 (A1041fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3342263	NM_000458.4(HNF1B):c.1325T>A (p.Met442Lys)	HNF1B (M416K +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3338416	NM_033380.3(COL4A5):c.4453G>A (p.Gly1485Arg)	COL4A5 (G1479R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3338415	NM_000092.5(COL4A4):c.4293dup (p.Lys1432Ter)	COL4A4 (K1432*)	Duplication (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3338414	NM_000092.5(COL4A4):c.2663G>A (p.Gly888Glu)	COL4A4 (G888E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3338413	NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)	PKD1 (V1611F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338412	NM_001081.4(CUBN):c.4753C>T (p.Gln1585Ter)	CUBN (Q1585*)	Single nucleotide variant (nonsense)	Proteinuria, chronic benign	GPathogenic
Select item 3338411	NM_000342.4(SLC4A1):c.722T>A (p.Val241Glu)	SLC4A1 (V241E)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis	GUncertain significance
Select item 3338410	NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)	COL4A3, MFF-DT (G1140R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3338409	NM_004621.6(TRPC6):c.170+5G>C	TRPC6	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 3338408	NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)	PKD1 (H719R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338407	NM_001127898.4(CLCN5):c.850_851delinsAA (p.Leu284Lys)	CLCN5 (L214K +2 more)	Indel (missense variant)	Dent disease type 1	GUncertain significance
Select item 3338406	NM_001081.4(CUBN):c.4774_4775del (p.Ser1592fs)	CUBN (S1592fs)	Microsatellite (frameshift variant)	Proteinuria, chronic benign	GPathogenic
Select item 3338405	NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)	UMOD (C52G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GLikely pathogenic
Select item 3338404	NM_001009944.3(PKD1):c.3294_3295+5del	PKD1	Deletion (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338403	NM_182961.4(SYNE1):c.68A>T (p.Asp23Val)	SYNE1 (D23V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 3338402	NM_016306.6(DNAJB11):c.163G>A (p.Asp55Asn)	DNAJB11 (D55N)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 3338401	NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)	PKD1 (F3258fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338400	NM_001844.5(COL2A1):c.1553C>G (p.Pro518Arg)	COL2A1 (P449R +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome, type I, nonsyndromic ocular	GUncertain significance
Select item 3338399	NM_000458.4(HNF1B):c.229G>A (p.Asp77Asn)	HNF1B (D77N)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3338398	NM_001267550.2(TTN):c.61445_61446del (p.Cys20482fs)	TTN, TTN-AS1 (C11417fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3338397	NM_144687.4(NLRP12):c.2297_2298del (p.Leu766fs)	NLRP12 (L766fs +1 more)	Microsatellite (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3338396	NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)	CDKL5 (N276S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3338395	NM_001002295.2(GATA3):c.425C>A (p.Ser142Ter)	GATA3 (S142*)	Single nucleotide variant (nonsense)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 3338394	NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)	PKHD1 (F380S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3338393	NM_000891.3(KCNJ2):c.376G>C (p.Val126Leu)	KCNJ2 (V126L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 3338392	NM_033380.3(COL4A5):c.3584del (p.Pro1195fs)	COL4A5 (P1195fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3338391	NM_000248.4(MITF):c.30T>G (p.Tyr10Ter)	MITF (Y10*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 3338390	NM_175914.5(HNF4A):c.359C>A (p.Ser120Ter)	HNF4A (S117* +3 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 3338389	NM_001370259.2(MEN1):c.773A>C (p.Gln258Pro)	MEN1 (Q223P +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3338388	NM_000297.4(PKD2):c.778_779dup (p.Val262fs)	PKD2 (V262fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3338387	NM_001267550.2(TTN):c.96303_96310+4del	LOC126806421, TTN +1 more	Deletion (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3338386	NM_002471.4(MYH6):c.2483A>G (p.Asn828Ser)	MYH6 (N828S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE	GUncertain significance
Select item 3338385	NM_000297.4(PKD2):c.592C>T (p.Arg198Ter)	LOC129992813, PKD2 (R198*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3338384	NM_138694.4(PKHD1):c.4427G>A (p.Cys1476Tyr)	PKHD1 (C1476Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3338383	NM_006984.5(CLDN10):c.497G>A (p.Trp166Ter)	CLDN10 (W145* +2 more)	Single nucleotide variant (nonsense)	HELIX syndrome	GPathogenic
Select item 3338382	NM_000574.5(CD55):c.98G>A (p.Trp33Ter)	CD55 (W33*)	Single nucleotide variant (nonsense +1 more)	Protein-losing enteropathy	GPathogenic
Select item 3338381	NM_007294.4(BRCA1):c.2853del (p.Arg951fs)	BRCA1 (R655fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3338380	NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338379	NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)	PKD1 (D3166fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3338378	NM_012186.3(FOXE3):c.485G>A (p.Arg162Gln)	FOXE3, LINC01389 (R162Q)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 11, susceptibility to	GUncertain significance
Select item 3338377	NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)	PKD1	Single nucleotide variant (stop lost)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338376	NM_022489.4(INF2):c.13G>A (p.Glu5Lys)	INF2 (E5K)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 3338375	NM_198880.3(QRICH1):c.582_629del (p.Ala197_Gln212del)	QRICH1	Deletion (inframe_deletion)	Ververi-Brady syndrome	GUncertain significance
Select item 3338374	NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)	PKD1 (Q3198P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338373	NM_032217.5(ANKRD17):c.3556C>T (p.Pro1186Ser)	ANKRD17 (P1073S +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 3338372	NM_005629.4(SLC6A8):c.877dup (p.Leu293fs)	SLC6A8 (L178fs +1 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 3338371	NM_173689.7(CRB2):c.3220_3228del (p.Leu1074_Asp1076del)	CRB2	Deletion (inframe_deletion +1 more)	Focal segmental glomerulosclerosis 9	GUncertain significance
Select item 3338370	NM_004984.4(KIF5A):c.1688T>C (p.Val563Ala)	KIF5A (V474A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 3338369	NM_004423.4(DVL3):c.1947_1950del (p.His650fs)	DVL3 (H650fs)	Microsatellite (frameshift variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 3338368	NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)	CUBN (L3096fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3338000	NM_002524.5(NRAS):c.203G>T (p.Arg68Ile)	NRAS (R68I)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GConflicting classifications of pathogenicity
Select item 3256909	NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)	ATP6V0A4 (W326*)	Single nucleotide variant (nonsense)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GPathogenic
Select item 3256908	NM_014712.3(SETD1A):c.4711C>T (p.Arg1571Ter)	SETD1A (R1571*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 3256907	NM_000094.4(COL7A1):c.7274G>A (p.Gly2425Asp)	COL7A1 (G2425D)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3256906	NM_003041.4(SLC5A2):c.400G>A (p.Gly134Ser)	SLC5A2 (G134S)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3256905	NM_003041.4(SLC5A2):c.1830C>A (p.Cys610Ter)	RUSF1, SLC5A2 (C610*)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial renal glucosuria	GLikely pathogenic
Select item 3256904	NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)	PKD1	Deletion (inframe_deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3256903	NM_003041.4(SLC5A2):c.1023C>G (p.Asp341Glu)	SLC5A2 (D341E)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3256902	NM_001040142.2(SCN2A):c.970+4A>T	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 3256901	NM_000092.5(COL4A4):c.1029+7A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3256900	NM_000092.5(COL4A4):c.4082-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3256899	NM_001098511.3(KIF2A):c.1388G>A (p.Arg463Lys)	KIF2A (R436K +2 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
Select item 3256898	NM_000092.5(COL4A4):c.2169del (p.Arg724fs)	COL4A4 (R724fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic

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