C2931788[trait identifier] AND "Genome Diagnostics Laboratory, The Hos - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240967	NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	NPHP4 (R740H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +5 more	GConflicting classifications of pathogenicity
Select item 1712461	NM_000186.4(CFH):c.47del (p.Cys16fs)	CFH (C16fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1168607	NM_000186.4(CFH):c.245-11_245-9dup	CFH	Duplication (intron variant)	Age related macular degeneration 4 +5 more	GBenign/Likely benign
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	not specified +6 more	GBenign
Select item 294480	NM_000186.4(CFH):c.245-7G>A	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 636726	NM_000186.4(CFH):c.524G>C (p.Arg175Pro)	CFH (R175P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 294487	NM_000186.4(CFH):c.770G>A (p.Arg257His)	CFH (R257H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GConflicting classifications of pathogenicity
Select item 294488	NM_000186.4(CFH):c.921A>C (p.Ala307=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294490	NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	CFH (H402Y)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GConflicting classifications of pathogenicity
Select item 294491	NM_000186.4(CFH):c.1419G>A (p.Ala473=)	CFH	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 157562	NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)	CFH (P503A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 294494	NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)	CFH (I551T)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294497	NM_000186.4(CFH):c.1949G>T (p.Gly650Val)	CFH (G650V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1712460	NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)	CFH (L697F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 294501	NM_000186.4(CFH):c.2236+8T>A	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +6 more	GBenign/Likely benign
Select item 294504	NM_000186.4(CFH):c.2634C>T (p.His878=)	CFH	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 294507	NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)	CFH (S890I)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 1362138	NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	CFH (A892V)	Single nucleotide variant (missense variant)	Basal laminar drusen +5 more	GUncertain significance
Select item 1668120	NM_000186.4(CFH):c.2783-3dup	CFH	Duplication (intron variant)	Age related macular degeneration 4 +5 more	GBenign/Likely benign
Select item 294510	NM_000186.4(CFH):c.2850G>T (p.Gln950His)	CFH (Q950H)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GConflicting classifications of pathogenicity
Select item 294511	NM_000186.4(CFH):c.2867C>T (p.Thr956Met)	CFH (T956M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1563833	NM_000186.4(CFH):c.2946A>G (p.Pro982=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +5 more	GBenign/Likely benign
Select item 294513	NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)	CFH (G1002R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 294514	NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)	CFH (V1007L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294517	NM_000186.4(CFH):c.3133+8G>T	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +7 more	GBenign/Likely benign
Select item 875337	NM_000186.4(CFH):c.3134-5T>C	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 294520	NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)	CFH (N1050Y)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +7 more	GBenign/Likely benign
Select item 289336	NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)	CFH (I1059T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 1163683	NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)	CFH (Q1076E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +5 more	GUncertain significance
Select item 16558	NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	CFH (R1210C)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GConflicting classifications of pathogenicity
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 774281	NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala)	CFHR3 (G18A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +1 more	GBenign
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 788946	NM_001201550.3(CFHR4):c.228T>C (p.Asp76=)	CFHR4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1712465	NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)	CFHR2 (T71M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 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 294531	NM_030787.4(CFHR5):c.-20T>C	CFHR5	Single nucleotide variant (5 prime UTR variant)	CFHR5 deficiency +3 more	GBenign
Select item 775635	NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	CFHR5 (P46S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 294536	NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	CFHR5 (V110A)	Single nucleotide variant (missense variant)	CFHR5 deficiency +3 more	GBenign/Likely benign
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 873626	NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	CFHR5 (N216Y)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 294545	NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)	CFHR5 (N216I)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
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 713772	NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 377177	NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)	CFHR5 (G278S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 402533	NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)	CFHR5 (R356H)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
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 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 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 717499	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	CFHR5 (M514R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 875708	NM_172351.3(CD46):c.38C>T (p.Ser13Phe)	CD46, LOC129932405 (S13F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
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 1698741	NM_172351.3(CD46):c.191G>T (p.Cys64Phe)	CD46 (C64F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 875710	NM_172351.3(CD46):c.285T>C (p.Tyr95=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876703	NM_172351.3(CD46):c.453C>T (p.Ser151=)	CD46	Single nucleotide variant (synonymous variant)	CD46-related disorder +3 more	GBenign
Select item 294975	NM_172351.3(CD46):c.1013C>T (p.Ala338Val)	CD46 (A353V +4 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GBenign/Likely benign
Select item 294976	NM_172351.3(CD46):c.1083-10C>T	CD46	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +2 more	GBenign
Select item 296956	NM_001243133.2(NLRP3):c.*230G>C	NLRP3	Single nucleotide variant (3 prime UTR variant)	Cryopyrin associated periodic syndrome +5 more	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 1712438	NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)	PLA2R1 (H300D)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GBenign
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 255027	NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)	COL4A4 (G999E)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GConflicting classifications of pathogenicity
Select item 255019	NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)	COL4A4 (P759L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255015	NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)	COL4A4 (G545A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255003	NM_000091.5(COL4A3):c.547-9A>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 254988	NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 254995	NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)	COL4A3, MFF-DT (D1269E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +4 more	GBenign
Select item 334780	NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)	COL4A3, MFF-DT (D1347E)	Single nucleotide variant (missense variant)	Alport syndrome +5 more	GBenign
Select item 346008	NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)	LAMB2	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 697112	NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)	NPHP3, NPHP3-ACAD11 (N711S)	Single nucleotide variant (non-coding transcript variant +1 more)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 347147	NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	CFI (E548Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 252469	NM_000204.5(CFI):c.1534+5G>T	CFI	Single nucleotide variant (intron variant)	Age related macular degeneration 13 +6 more	GBenign/Likely benign
Select item 1066334	NM_000204.5(CFI):c.1429+1G>C	CFI	Single nucleotide variant (splice donor variant)	Factor I deficiency +4 more	GPathogenic/Likely pathogenic
Select item 347156	NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)	CFI (K441R +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +7 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 1471199	NM_000204.5(CFI):c.1071T>G (p.Ile357Met)	CFI (I338M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1379012	NM_000204.5(CFI):c.1063G>A (p.Val355Met)	CFI (V336M +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +4 more	GUncertain significance
Select item 347164	NM_000204.5(CFI):c.905-3T>C	CFI	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 347165	NM_000204.5(CFI):c.884-7T>C	CFI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 65580	NM_000204.5(CFI):c.782G>A (p.Gly261Asp)	CFI (G261D +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +6 more	GLikely benign
Select item 347168	NM_000204.5(CFI):c.608C>T (p.Thr203Ile)	CFI (T203I)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 717208	NM_000204.5(CFI):c.482+6C>A	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign/Likely benign
Select item 347171	NM_000204.5(CFI):c.482+6C>T	CFI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1471229	NM_000204.5(CFI):c.377T>C (p.Ile126Thr)	CFI (I126T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1413318	NM_000204.5(CFI):c.338G>A (p.Ser113Asn)	CFI (S113N)	Single nucleotide variant (missense variant +2 more)	Factor I deficiency +4 more	GUncertain significance
Select item 1712452	NM_000204.5(CFI):c.329-8del	CFI	Deletion (intron variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1481515	NM_000204.5(CFI):c.193T>C (p.Tyr65His)	CFI (Y65H)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome +4 more	GUncertain significance
Select item 286534	NM_000204.5(CFI):c.80_81del (p.Asp27fs)	CFI (D27fs)	Deletion (frameshift variant +2 more)	not provided +4 more	GPathogenic
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 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	Complement factor b deficiency +8 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +7 more	GBenign/Likely benign
Select item 356268	NM_001710.6(CFB):c.221G>A (p.Arg74His)	C2, CFB (R74H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 356271	NM_001710.6(CFB):c.405C>T (p.Tyr135=)	C2, CFB	Single nucleotide variant (synonymous variant)	CFB-related disorder +5 more	GBenign/Likely benign
Select item 356273	NM_001710.6(CFB):c.504G>A (p.Pro168=)	C2, CFB	Single nucleotide variant (synonymous variant)	CFB-related disorder +5 more	GBenign/Likely benign
Select item 1482107	NM_001710.6(CFB):c.507C>T (p.Gly169=)	CFB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356274	NM_001710.6(CFB):c.600C>T (p.Ser200=)	CFB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 356280	NM_001710.6(CFB):c.754G>A (p.Gly252Ser)	C2, CFB (G252S)	Single nucleotide variant (missense variant)	CFB-related disorder +5 more	GBenign/Likely benign

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