ClinVar (all) for Orgtrack (Select 1043) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578510	NM_004456.5(EZH2):c.1891del (p.Ile631fs)	EZH2 (I575fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 2578509	NM_003072.5(SMARCA4):c.1420-1G>T	SMARCA4	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 1712480	NM_016341.4(PLCE1):c.3492G>A (p.Thr1164=)	PLCE1	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 1712479	NM_007366.5(PLA2R1):c.3570C>T (p.Gly1190=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712478	NM_022489.4(INF2):c.2892C>T (p.Pro964=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712477	NM_020381.4(PDSS2):c.290C>T (p.Thr97Ile)	PDSS2 (T97I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712476	NM_007366.5(PLA2R1):c.2096G>A (p.Cys699Tyr)	PLA2R1 (C699Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712475	NM_004621.6(TRPC6):c.1645T>A (p.Trp549Arg)	TRPC6 (W549R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712474	NM_004998.4(MYO1E):c.*716A>G	MYO1E	Single nucleotide variant (3 prime UTR variant)	Kidney disorder	GLikely benign
Select item 1712473	NM_007366.5(PLA2R1):c.-127del	PLA2R1	Deletion (5 prime UTR variant)	Kidney disorder	GLikely benign
Select item 1712472	NM_022098.4(XPNPEP3):c.926G>T (p.Arg309Leu)	XPNPEP3 (R309L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712471	NM_153240.5(NPHP3):c.*108G>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Kidney disorder	GUncertain significance
Select item 1712470	NM_014425.5(INVS):c.1984C>G (p.Pro662Ala)	INVS (P336A +2 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712469	NM_022098.4(XPNPEP3):c.854A>G (p.Lys285Arg)	XPNPEP3 (K285R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712468	NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)	XPNPEP3 (R309Q)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 1712467	NM_153704.6(TMEM67):c.333C>T (p.Gly111=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1712466	NM_003647.3(DGKE):c.999G>A (p.Ala333=)	DGKE	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712465	NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)	CFHR2 (T71M)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome +1 more	GLikely benign
Select item 1712464	NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)	THBD (P353T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712463	NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)	CFHR5 (V405E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712462	NM_000064.4(C3):c.2485TTC[1] (p.Phe830del)	C3 (F830del)	Microsatellite (inframe_deletion)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712461	NM_000186.4(CFH):c.47del (p.Cys16fs)	CFH (C16fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1712460	NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)	CFH (L697F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1712459	NM_172351.3(CD46):c.83del (p.Leu28fs)	CD46, LOC129932405 (L28fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1712458	NM_007366.5(PLA2R1):c.1957del (p.Ala653fs)	PLA2R1 (A653fs)	Deletion (frameshift variant)	Kidney disorder	GBenign
Select item 1712457	NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)	CFHR5 (V369G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712456	NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)	CFHR4 (Y42F +1 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1712455	NM_000064.4(C3):c.1269+4C>A	C3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1712454	NM_000064.4(C3):c.522G>A (p.Pro174=)	C3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712453	NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)	CFI (I227T +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712452	NM_000204.5(CFI):c.329-8del	CFI	Deletion (intron variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1712451	NM_001710.6(CFB):c.981A>T (p.Ala327=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712450	NM_001710.6(CFB):c.978A>G (p.Glu326=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712449	NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)	DGKE (N403del)	Microsatellite (inframe_deletion)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712448	NM_000186.4(CFH):c.1617T>C (p.Gly539=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +5 more	GLikely benign
Select item 1712447	NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)	CFHR5 (L422V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1712446	NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)	CFHR2 (Y140C +2 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1712445	NM_000064.4(C3):c.1962C>T (p.Thr654=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712444	NM_000204.5(CFI):c.11T>A (p.Leu4His)	CFI (L4H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1712443	NM_005666.4(CFHR2):c.213G>A (p.Thr71=)	CFHR2	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712442	NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr)	CFHR2 (C72Y)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712441	NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)	CFHR5 (G228A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1712440	NM_001201550.3(CFHR4):c.118C>T (p.Arg40Cys)	CFHR4 (R39C +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712439	NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)	PLA2R1 (M292V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712438	NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)	PLA2R1 (H300D)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712437	NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)	PLA2R1 (G1106S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712436	NM_004924.6(ACTN4):c.909C>T (p.Ser303=)	ACTN4	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712435	NM_178170.3(NEK8):c.453C>T (p.Ser151=)	NEK8	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712434	NM_000361.3(THBD):c.563C>G (p.Ala188Gly)	THBD (A188G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712433	NM_000064.4(C3):c.268-4C>T	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712432	NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)	CFHR5 (S215P)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1712431	NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)	CFH (R1215L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1712430	NM_153240.5(NPHP3):c.1958A>G (p.Asn653Ser)	NPHP3, NPHP3-ACAD11 (N653S)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712429	NM_153240.5(NPHP3):c.2042T>G (p.Ile681Arg)	NPHP3, NPHP3-ACAD11 (I681R)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712428	NM_014140.4(SMARCAL1):c.2313C>G (p.Phe771Leu)	SMARCAL1 (F771L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712427	NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)	NPHS1 (S937N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1712426	NM_000537.4(REN):c.614G>A (p.Arg205Lys)	REN (R205K)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712425	NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)	INF2 (A1052T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1712424	NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter)	LAMB2 (S790*)	Single nucleotide variant (nonsense)	Kidney disorder	GLikely pathogenic
Select item 1712423	NM_001358921.2(COQ2):c.951+8C>G	COQ2	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712422	NM_016341.4(PLCE1):c.5625T>G (p.Ile1875Met)	PLCE1 (I1567M +2 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712421	NM_004621.6(TRPC6):c.258C>T (p.Tyr86=)	TRPC6	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712420	NM_033380.3(COL4A5):c.465G>A (p.Lys155=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712419	NM_004621.6(TRPC6):c.76A>T (p.Asn26Tyr)	TRPC6 (N26Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712418	NM_022489.4(INF2):c.1812A>T (p.Arg604=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GConflicting classifications of pathogenicity
Select item 1712417	NM_002909.5(REG1A):c.168C>T (p.Thr56=)	REG1A	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 1712416	NM_000091.5(COL4A3):c.2656+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Kidney disorder +1 more	GLikely pathogenic
Select item 1712415	NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)	COL4A4 (C1480*)	Single nucleotide variant (nonsense)	Kidney disorder	GLikely pathogenic
Select item 1712414	NM_007366.5(PLA2R1):c.3857_3861del (p.Asn1286fs)	PLA2R1 (N1286fs)	Deletion (frameshift variant)	Kidney disorder	GUncertain significance
Select item 1712413	NM_001128178.3(NPHP1):c.1045A>T (p.Ser349Cys)	NPHP1 (S286C +4 more)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 1712412	NM_022489.4(INF2):c.451T>C (p.Cys151Arg)	INF2 (C151R)	Single nucleotide variant (missense variant)	Kidney disorder	GLikely pathogenic
Select item 1712411	NM_002473.6(MYH9):c.2499+4C>T	MYH9	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1712410	NM_004646.4(NPHS1):c.1108G>A (p.Val370Ile)	NPHS1 (V370I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712409	NM_006642.5(SDCCAG8):c.1222-8C>T	SDCCAG8	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712408	NM_004646.4(NPHS1):c.2971G>A (p.Val991Ile)	NPHS1 (V991I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712407	NM_002909.5(REG1A):c.80C>G (p.Thr27Arg)	REG1A (T27R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712406	NM_000186.4(CFH):c.773C>T (p.Pro258Leu)	CFH (P258L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 1712405	NM_016341.4(PLCE1):c.-10T>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712404	NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly)	SMARCAL1 (A118G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1712403	NM_020381.4(PDSS2):c.31C>T (p.Pro11Ser)	PDSS2 (P11S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712402	NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp)	CD2AP (E143D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712401	NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly)	CD2AP (E143G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712400	NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs)	SDCCAG8 (S166fs +1 more)	Duplication (5 prime UTR variant +1 more)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 1712399	NM_014625.4(NPHS2):c.947C>G (p.Pro316Arg)	AXDND1, NPHS2 (P248R +1 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712398	NM_012120.3(CD2AP):c.1471G>A (p.Ala491Thr)	CD2AP (A491T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712397	NM_004646.4(NPHS1):c.59-9T>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712396	NM_004924.6(ACTN4):c.1443-7C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712395	NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)	NPHS1 (P1061S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 1712394	NM_004621.6(TRPC6):c.2668G>C (p.Asp890His)	TRPC6 (D890H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712393	NM_004924.6(ACTN4):c.459C>A (p.Phe153Leu)	ACTN4 (F153L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712392	NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)	NPHS1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1712391	NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)	NPHS1 (K848T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1712390	NM_007366.5(PLA2R1):c.1956A>C (p.Lys652Asn)	PLA2R1 (K652N)	Single nucleotide variant (missense variant)	Kidney disorder	GBenign
Select item 1712389	NM_004924.6(ACTN4):c.2338-3C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712388	NM_012120.3(CD2AP):c.297A>G (p.Pro99=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 1712387	NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His)	SMARCAL1 (L322H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1712386	NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1712385	NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln)	ACTN4 (R410Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 1712384	NM_004646.4(NPHS1):c.17C>G (p.Thr6Arg)	KIRREL2, NPHS1 (T6R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
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

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