ClinVar (all) for Orgtrack (Select 507840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238647	NM_000441.2(SLC26A4):c.2089+3A>T	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3237153	NM_005450.6(NOG):c.666C>G (p.Tyr222Ter)	NOG (Y222*)	Single nucleotide variant (nonsense)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 3233361	NM_000441.2(SLC26A4):c.304+941C>T	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 3233360	NM_000441.2(SLC26A4):c.1264-6T>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2735069	NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)	SLC26A4 (G439R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GLikely pathogenic
Select item 2681784	NM_002968.3(SALL1):c.2283_2284del (p.Leu762fs)	SALL1 (L665fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	GPathogenic
Select item 2681783	NM_003052.5(SLC34A1):c.644+2T>G	SLC34A1	Single nucleotide variant (splice donor variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GPathogenic
Select item 2681782	NM_033380.3(COL4A5):c.1303G>C (p.Gly435Arg)	COL4A5 (G435R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2681781	NM_000503.6(EYA1):c.1545T>G (p.Tyr515Ter)	EYA1 (Y393* +5 more)	Single nucleotide variant (nonsense)	Branchiootic syndrome 1	GPathogenic
Select item 2681780	NM_024426.6(WT1):c.1504G>C (p.Asp502His)	WT1 (D106H +14 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681779	NM_024426.6(WT1):c.1367T>G (p.Phe456Cys)	WT1 (F202C +11 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681778	NM_024426.6(WT1):c.1394T>C (p.Phe465Ser)	WT1 (F211S +11 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681777	NM_024426.6(WT1):c.896T>A (p.Leu299Ter)	WT1 (L258* +4 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 4	GLikely pathogenic
Select item 2681776	NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)	WT1 (Q208* +11 more)	Single nucleotide variant (nonsense +2 more)	Drash syndrome +3 more	GLikely pathogenic
Select item 2681775	NM_018979.4(WNK1):c.1748dup (p.Gln584fs)	WNK1 (Q584fs)	Duplication (frameshift variant)	Pseudohypoaldosteronism type 2C	GLikely pathogenic
Select item 2681774	NM_025132.4(WDR19):c.2489G>A (p.Gly830Glu)	WDR19 (G670E +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13	GUncertain significance
Select item 2681773	NM_138694.4(PKHD1):c.5918T>C (p.Leu1973Pro)	PKHD1 (L1973P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2681772	NM_020401.4(NUP107):c.727A>G (p.Thr243Ala)	NUP107 (T214A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GUncertain significance
Select item 2681771	NM_020401.4(NUP107):c.1451_1453del (p.Gly484del)	NUP107 (G455del +1 more)	Deletion (inframe_deletion)	Nephrotic syndrome, type 11	GUncertain significance
Select item 2681770	NM_000092.5(COL4A4):c.3636_3637del (p.Gly1213fs)	COL4A4 (G1213fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2681769	NM_000092.5(COL4A4):c.1724G>A (p.Gly575Glu)	COL4A4 (G575E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2681768	NM_004937.3(CTNS):c.1054C>T (p.Gln352Ter)	CTNS (Q205* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GPathogenic
Select item 2681767	NM_024753.5(TTC21B):c.2211+3A>G	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis 12	GUncertain significance
Select item 2681766	NM_024753.5(TTC21B):c.380C>T (p.Ala127Val)	TTC21B, TTC21B-AS1 (A127V)	Single nucleotide variant (missense variant)	Nephronophthisis 12	GUncertain significance
Select item 2681765	NM_024753.5(TTC21B):c.553-2A>T	TTC21B, TTC21B-AS1	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 12	GPathogenic
Select item 2681764	NM_024753.5(TTC21B):c.262G>T (p.Asp88Tyr)	TTC21B (D88Y)	Single nucleotide variant (missense variant)	Nephronophthisis 12	GUncertain significance
Select item 2681763	NM_024753.5(TTC21B):c.752T>G (p.Met251Arg)	TTC21B (M251R)	Single nucleotide variant (missense variant)	Nephronophthisis 12	GLikely pathogenic
Select item 2681762	NM_000278.5(PAX2):c.337G>T (p.Glu113Ter)	PAX2 (E113* +1 more)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 7	GPathogenic
Select item 2681761	NM_002292.4(LAMB2):c.1066T>A (p.Cys356Ser)	LAMB2 (C356S)	Single nucleotide variant (missense variant)	Pierson syndrome	GUncertain significance
Select item 2681760	NM_002292.4(LAMB2):c.1405C>T (p.Arg469Ter)	LAMB2 (R469*)	Single nucleotide variant (nonsense)	Pierson syndrome	GPathogenic
Select item 2681759	NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)	NPHP3, NPHP3-ACAD11 (Q250*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +1 more	GPathogenic
Select item 2681758	NM_016341.4(PLCE1):c.5078_5079insGAGGAAAAGG (p.Ser1696fs)	PLCE1 (S1388fs +2 more)	Insertion (frameshift variant)	Nephrotic syndrome, type 3	GPathogenic
Select item 2681757	NM_014669.5(NUP93):c.1899G>A (p.Lys633=)	NUP93	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 2681756	NM_000278.5(PAX2):c.92G>C (p.Arg31Pro)	PAX2 (R31P +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2681755	NM_014669.5(NUP93):c.1573C>T (p.Arg525Trp)	NUP93 (R402W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 2681754	NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln)	TRPC6 (E144Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 2681753	NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg)	TRPC6 (G331R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 2681752	NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs)	TRPC6 (V631fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 2681751	NM_173551.5(ANKS6):c.1617G>A (p.Met539Ile)	ANKS6 (M539I)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2681750	NM_000278.5(PAX2):c.383_384del (p.Thr128fs)	PAX2 (T128fs +1 more)	Microsatellite (frameshift variant)	Focal segmental glomerulosclerosis 7	GPathogenic
Select item 2681749	NM_173551.5(ANKS6):c.651dup (p.Asn218fs)	ANKS6 (N218fs)	Duplication (frameshift variant)	Nephronophthisis 16	GPathogenic
Select item 2681748	NM_173551.5(ANKS6):c.887T>C (p.Ile296Thr)	ANKS6 (I296T)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2681747	NM_001128178.3(NPHP1):c.361_362dup (p.Ser121fs)	NPHP1 (S121fs +1 more)	Duplication (frameshift variant)	Nephronophthisis 1	GLikely pathogenic
Select item 2681746	NM_015102.5(NPHP4):c.3062del (p.Gln1021fs)	NPHP4 (Q1021fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GLikely pathogenic
Select item 2681745	NM_015102.5(NPHP4):c.4237_4249del (p.Asp1413fs)	NPHP4 (D1413fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GPathogenic
Select item 2681744	NM_000278.5(PAX2):c.263C>G (p.Pro88Arg)	PAX2 (P119R +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GPathogenic
Select item 2681743	NM_024876.4(COQ8B):c.33del (p.Thr12fs)	COQ8B (T12fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 2681742	NM_024876.4(COQ8B):c.1465C>T (p.His489Tyr)	COQ8B (H448Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 2681741	NM_024876.4(COQ8B):c.1297-2A>G	COQ8B	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 2681740	NM_024876.4(COQ8B):c.1468C>T (p.Arg490Cys)	COQ8B (R449C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2681739	NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)	COL4A3, MFF-DT (S425*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2681738	NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter)	COL4A3, MFF-DT (Y346*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2681737	NM_033380.3(COL4A5):c.276+3A>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2681736	NM_000278.5(PAX2):c.213-8C>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2681735	NM_033380.3(COL4A5):c.1207G>A (p.Gly403Arg)	COL4A5 (G403R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2681734	NM_033380.3(COL4A5):c.3078dup (p.Gly1027fs)	COL4A5 (G1027fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 2681733	NM_033380.3(COL4A5):c.2567del (p.Pro856fs)	COL4A5 (P856fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 2681732	NM_033380.3(COL4A5):c.4529-1G>C	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 2681731	NM_033380.3(COL4A5):c.81+2dup	COL4A5	Duplication (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 2681730	NM_033380.3(COL4A5):c.4528+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 2681729	NM_000278.5(PAX2):c.154T>C (p.Cys52Arg)	PAX2 (C52R +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS, CTNS-AS1 (H105fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic
Select item 2678936	NM_000441.2(SLC26A4):c.1149+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic/Likely pathogenic
Select item 2671884	NM_000503.6(EYA1):c.639+3A>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1	GLikely pathogenic
Select item 2582793	NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)	POU3F4 (R329*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2582792	NM_000307.5(POU3F4):c.80dup (p.Ser29fs)	POU3F4 (S29fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2580901	NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)	EYA1 (E348* +5 more)	Single nucleotide variant (nonsense)	Branchiootic syndrome 1	GPathogenic
Select item 2446360	NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)	HARS2 (R281W +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 2446359	NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)	LARS2, LARS2-AS1 (I360T)	Single nucleotide variant (missense variant)	Perrault syndrome 4	GLikely pathogenic
Select item 2395414	NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)	CFHR1 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2182681	NM_024426.6(WT1):c.392C>T (p.Pro131Leu)	LOC107982234, WT1 (P126L +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 4 +4 more	GConflicting classifications of pathogenicity
Select item 2152014	NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)	PKHD1 (L2665P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 2086859	NM_000278.5(PAX2):c.212+1G>T	PAX2	Single nucleotide variant (splice donor variant)	Renal coloboma syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2082603	NM_024876.4(COQ8B):c.1084C>T (p.Arg362Ter)	COQ8B (R362* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 9 +1 more	GPathogenic/Likely pathogenic
Select item 2070242	NM_173689.7(CRB2):c.1813C>T (p.Arg605Cys)	CRB2 (R605C)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9 +1 more	GUncertain significance
Select item 1725442	NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)	COL4A5 (Q235*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 1712383	NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)	NPHS1 (P838S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 1710088	NM_173551.5(ANKS6):c.2394+1G>A	ANKS6	Single nucleotide variant (splice donor variant)	Nephronophthisis 16	GLikely pathogenic
Select item 1684962	NM_014625.4(NPHS2):c.938C>T (p.Ser313Leu)	AXDND1, NPHS2 (S245L +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 1477271	NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro)	WDR19 (A505P +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +2 more	GUncertain significance
Select item 1474469	NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)	GJB6 (R75W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GConflicting classifications of pathogenicity
Select item 1454640	NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)	NPHP3-ACAD11, NPHP3 (R1259*)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1297066	NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 1202646	NM_005982.4(SIX1):c.316G>A (p.Val106Met)	SIX1 (V106M)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	GLikely pathogenic
Select item 1202645	NM_000503.6(EYA1):c.1140+1G>A	EYA1	Single nucleotide variant (intron variant +1 more)	Branchiootic syndrome 1	GPathogenic
Select item 1202644	NM_000503.6(EYA1):c.1425del (p.Asp476fs)	EYA1 (D354fs +4 more)	Deletion (frameshift variant)	Branchiootic syndrome 1	GPathogenic
Select item 1185124	NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)	HARS2 (G324A +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 1077063	NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)	COL4A3, MFF-DT (G756D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1077062	NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs)	COL4A3, MFF-DT (F202fs)	Duplication (frameshift variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 1077061	NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)	COL4A3, MFF-DT (G233R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1077060	NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)	COL4A3, MFF-DT (G622E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1077059	NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser)	COL4A5 (G1267S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077058	NM_033380.3(COL4A5):c.891+5G>A	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1077057	NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp)	COL4A5 (G1104D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077056	NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)	COL4A5 (W1590* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 1077055	NM_033380.3(COL4A5):c.322-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 1077054	NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu)	COL4A5 (G180E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077053	NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)	COL4A5 (E1224*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 1077052	NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val)	COL4A5 (G1264V)	Single nucleotide variant (missense variant +1 more)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077051	NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)	COL4A5 (G1504R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic

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