ClinVar (all) for Orgtrack (Select 507757) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697266	NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu)	SPINK1 (G27E)	Single nucleotide variant (missense variant)	Tropical pancreatitis +1 more	GUncertain significance
Select item 1697265	NM_000330.4(RS1):c.578C>A (p.Pro193His)	CDKL5, RS1 (P193H)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1697264	NM_025114.4(CEP290):c.4102G>C (p.Asp1368His)	CEP290 (D1368H)	Single nucleotide variant (missense variant)	Joubert syndrome 5	GUncertain significance
Select item 988266	NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	NPHS1 (R711S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988265	NM_015102.5(NPHP4):c.2327del (p.Pro776fs)	NPHP4 (P263fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 988264	NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)	NPHP4 (Q359*)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GPathogenic
Select item 988263	NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)	NPHP4 (T1004fs +2 more)	Duplication (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 988262	NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs)	NPHP4 (Y154fs +2 more)	Microsatellite (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 988261	NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)	NPHP3, NPHP3-ACAD11 (P643L)	Single nucleotide variant (missense variant)	Nephronophthisis 3 +1 more	GLikely pathogenic
Select item 988260	NM_001002295.2(GATA3):c.1050+2T>A	GATA3	Single nucleotide variant (splice donor variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 988259	NM_000214.3(JAG1):c.323A>T (p.Asn108Ile)	JAG1 (N108I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 988258	NM_207361.6(FREM2):c.6041A>T (p.Asp2014Val)	FREM2 (D2014V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 988257	NM_033380.3(COL4A5):c.438+1_438+3dup	COL4A5	Duplication (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 988256	NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)	COL4A5 (Q1186*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 988255	NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)	COL4A5 (P1584H +1 more)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 988254	NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)	COL4A5 (R777C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988253	NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg)	COL4A3, MFF-DT (G608R)	Single nucleotide variant (missense variant)	Hematuria	GPathogenic
Select item 988252	NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)	COL4A3, MFF-DT (G1488R)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 988251	NM_001127898.4(CLCN5):c.1730del (p.Ala577fs)	CLCN5 (A507fs +2 more)	Deletion (frameshift variant)	Dent disease type 1	GLikely pathogenic
Select item 988250	NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)	CLCN5 (S452fs +2 more)	Deletion (frameshift variant)	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +3 more	GLikely pathogenic
Select item 988249	NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)	CLCN5 (C221R +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1 +4 more	GLikely pathogenic
Select item 988248	NM_001127898.4(CLCN5):c.604-2A>G	CLCN5	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome	GPathogenic
Select item 988247	NM_000064.4(C3):c.1678G>A (p.Val560Met)	C3 (V560M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988246	NM_000064.4(C3):c.2642G>A (p.Arg881His)	C3 (R881H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988245	NM_172351.3(CD46):c.476-1G>A	CD46	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 988244	NM_000064.4(C3):c.1999G>A (p.Ala667Thr)	C3 (A667T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 988243	NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)	C3 (I1157T)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 988242	NM_001080512.3(BICC1):c.1005G>T (p.Gln335His)	BICC1 (Q335H)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 988241	NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	BBS7 (G63R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 988240	NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)	BBS7 (Q293P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 988239	NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs)	SMARCAL1 (F731fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 988238	NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys)	SMARCAL1 (R659C)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 988237	NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)	SLC7A9 (A331V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 988236	NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile)	SLC4A1 (M795I)	Single nucleotide variant (missense variant)	Renal tubular acidosis	GUncertain significance
Select item 988235	NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)	SLC4A1 (V872I)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +10 more	GUncertain significance
Select item 988234	NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg)	SALL1 (Q852R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 988233	NM_002968.3(SALL1):c.477C>A (p.Ser159Arg)	SALL1 (S159R +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +3 more	GConflicting classifications of pathogenicity
Select item 988232	NM_001024630.4(RUNX2):c.770_771del (p.Met257fs)	RUNX2 (M243fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 988231	NM_001395656.1(ROBO2):c.1930C>T (p.Arg644Cys)	ROBO2 (R47C +6 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 2	GUncertain significance
Select item 988230	NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	SCNN1A (R192fs +2 more)	Deletion (frameshift variant)	Liddle syndrome 3 +2 more	GPathogenic
Select item 988229	NM_017909.4(RMND1):c.829_830+2del	RMND1	Deletion (splice donor variant)	Nephronophthisis	GPathogenic
Select item 988228	NM_000537.4(REN):c.215C>A (p.Thr72Asn)	REN (T72N)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 988227	NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)	PLG (G579R)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +3 more	GUncertain significance
Select item 988226	NM_016341.4(PLCE1):c.4182_4201dup (p.Tyr1401fs)	PLCE1 (Y1093fs +2 more)	Duplication (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 988225	NM_000204.5(CFI):c.292A>G (p.Thr98Ala)	CFI (T98A)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988224	NM_000204.5(CFI):c.1268C>A (p.Ala423Glu)	CFI (A220E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988223	NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup	CFHR5	Duplication	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 988222	NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly)	CFHR5 (D236G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988221	NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)	CFH (S1133*)	Single nucleotide variant (nonsense)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 988220	NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys)	CFH (T1216K)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988219	NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)	CFI (R133* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 988218	NM_000186.4(CFH):c.1825G>A (p.Val609Ile)	CFH (V609I)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 988217	NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)	BBS10 (K708fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 988216	NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)	ATP6V1B1 (Q27*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988215	NM_001025616.3(ARHGAP24):c.550A>G (p.Lys184Glu)	ARHGAP24 (K184E +3 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GUncertain significance
Select item 988214	NM_000486.6(AQP2):c.375del (p.Thr126fs)	AQP2, AQP5-AS1 (T126fs)	Deletion (non-coding transcript variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
Select item 988213	NM_018685.5(ANLN):c.2347G>A (p.Glu783Lys)	ANLN (E745K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988212	NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)	ALMS1 (Y2527* +1 more)	Duplication (nonsense)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 988211	NM_024426.6(WT1):c.1411C>A (p.Leu471Met)	WT1 (L237M +11 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GUncertain significance
Select item 988210	NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val)	TTC21B (I1208V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 988209	NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe)	WDR19 (L1016F +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 988208	NM_003361.4(UMOD):c.411C>G (p.Cys137Trp)	UMOD (C137W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	GLikely pathogenic
Select item 988207	NM_003361.4(UMOD):c.768C>G (p.Cys256Trp)	UMOD (C256W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	GUncertain significance
Select item 988206	NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter)	SLC34A1 (W572*)	Single nucleotide variant (nonsense)	SLC34A1-related condition +1 more	GUncertain significance
Select item 988205	NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys)	SLC12A3 (G495C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988204	NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser)	SLC12A3 (G459S +1 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988203	NM_016341.4(PLCE1):c.6821A>G (p.Gln2274Arg)	PLCE1, NOC3L (Q1966R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 988202	NM_016341.4(PLCE1):c.1955+9del	PLCE1	Deletion (intron variant)	not provided	GLikely benign
Select item 988201	NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)	PKHD1 (Y2784C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 988200	NM_138694.4(PKHD1):c.2172del (p.Gly726fs)	PKHD1 (G726fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 988199	NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del	NPHP1	Deletion	Nephronophthisis	GLikely pathogenic
Select item 988198	NM_024408.4(NOTCH2):c.1682-10C>A	NOTCH2	Single nucleotide variant (intron variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 988197	NM_004998.4(MYO1E):c.3094_3097del (p.Thr1032fs)	MYO1E, LOC112272600 (T1032fs)	Microsatellite (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 988196	NM_004998.4(MYO1E):c.1567C>T (p.Arg523Trp)	MYO1E (R523W)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 988195	NM_000064.4(C3):c.4348A>C (p.Lys1450Gln)	C3 (K1450Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 988194	NM_170784.3(MKKS):c.592_593del (p.Lys198fs)	MKKS (K198fs)	Deletion (frameshift variant)	Nephronophthisis	GPathogenic
Select item 988193	NM_025074.7(FRAS1):c.7832A>G (p.Tyr2611Cys)	FRAS1 (Y2611C)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 988192	NM_025074.7(FRAS1):c.4843+2T>C	FRAS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988191	NM_000503.5(EYA1):c.557del	EYA1	Deletion	Melnick-Fraser syndrome	GPathogenic
Select item 988190	NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg)	CPLANE1 (C614R)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 988189	NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala)	CPLANE1 (P2144A)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 988188	NM_003647.3(DGKE):c.1A>T (p.Met1Leu)	DGKE (M1L)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 988187	NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del	CTNS	Deletion	Cystinosis	GPathogenic
Select item 988186	NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)	COL4A5 (G1454fs +1 more)	Duplication (frameshift variant)	Alport syndrome	GPathogenic
Select item 988185	NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)	COL4A5 (G796E)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GPathogenic
Select item 988184	NM_033380.3(COL4A5):c.1763_1779+3del	COL4A5	Deletion (splice donor variant)	Alport syndrome	GPathogenic
Select item 988183	NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu)	COL4A5 (P145L)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 988182	NM_033380.3(COL4A5):c.3262C>T (p.Pro1088Ser)	COL4A5 (P1088S)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 988181	NM_000092.5(COL4A4):c.158_159del (p.Ser53fs)	COL4A4 (S53fs)	Microsatellite (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 988180	NM_033380.3(COL4A5):c.3374-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GPathogenic
Select item 988179	NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)	COL4A4 (R1400G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988178	NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile)	UMOD (T634I +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 988177	NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)	UMOD (A285E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 988176	NM_003361.4(UMOD):c.272_274del (p.Ser91del)	UMOD (S124del +1 more)	Deletion (inframe_deletion +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GLikely pathogenic
Select item 988175	NM_003361.4(UMOD):c.698G>T (p.Gly233Val)	UMOD (G233V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	GUncertain significance
Select item 988174	NM_024753.5(TTC21B):c.1775T>C (p.Leu592Ser)	TTC21B (L592S)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 988173	NM_024753.5(TTC21B):c.667C>G (p.Leu223Val)	TTC21B-AS1, TTC21B (L223V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 988172	NM_000339.2:c.(2951+1_2952-1)_(*1_?)del	SLC12A3	Deletion	Bartter syndrome +1 more	GPathogenic
Select item 988171	NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile)	SLC12A3 (N735I +1 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988170	NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)	SLC12A3 (S545G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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