ClinVar for MedGen (Select 444141) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506572	NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)	C1GALT1C1 (T89I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 1712467	NM_153704.6(TMEM67):c.333C>T (p.Gly111=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Atypical hemolytic-uremic 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 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 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 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 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 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 1674240	NM_000064.4(C3):c.987C>T (p.Thr329=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1668120	NM_000186.4(CFH):c.2783-3dup	CFH	Duplication (intron variant)	Atypical hemolytic-uremic syndrome +6 more	GBenign/Likely benign
Select item 1630092	NM_000064.4(C3):c.683-4C>G	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1563833	NM_000186.4(CFH):c.2946A>G (p.Pro982=)	CFH	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +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 1481515	NM_000204.5(CFI):c.193T>C (p.Tyr65His)	CFI (Y65H)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 1471229	NM_000204.5(CFI):c.377T>C (p.Ile126Thr)	CFI (I126T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	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 specified +2 more	GConflicting classifications of pathogenicity
Select item 1413318	NM_000204.5(CFI):c.338G>A (p.Ser113Asn)	CFI (S113N)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +4 more	GUncertain significance
Select item 1411672	NM_000064.4(C3):c.3401G>A (p.Arg1134Gln)	C3 (R1134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1379012	NM_000204.5(CFI):c.1063G>A (p.Val355Met)	CFI (V336M +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome +4 more	GUncertain significance
Select item 1362138	NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	CFH (A892V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1343362	NM_000186.4(CFH):c.3493+1G>A	CFH	Single nucleotide variant (splice donor variant)	Atypical hemolytic-uremic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1168607	NM_000186.4(CFH):c.245-11_245-9dup	CFH	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	Factor H deficiency +6 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 1066334	NM_000204.5(CFI):c.1429+1G>C	CFI	Single nucleotide variant (splice donor variant)	Age related macular degeneration 13 +4 more	GPathogenic/Likely pathogenic
Select item 1063298	NM_000064.4(C3):c.28C>A (p.Leu10Met)	C3 (L10M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +1 more	GUncertain significance
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)	Atypical hemolytic-uremic syndrome with C3 anomaly +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 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 988227	NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)	PLG (G579R)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +3 more	GUncertain significance
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)	not provided +4 more	GUncertain significance
Select item 988195	NM_000064.4(C3):c.4348A>C (p.Lys1450Gln)	C3 (K1450Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	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 988146	NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe)	CFH (Y1177F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988145	NM_000186.4(CFH):c.1574G>A (p.Trp525Ter)	CFH (W525*)	Single nucleotide variant (nonsense)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 988144	NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr)	CFH (N1178Y)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988143	NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys)	CFH (R1182K)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988142	NM_000186.4(CFH):c.2071T>C (p.Cys691Arg)	CFH (C691R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988141	NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser)	CFH (R1182S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 988140	NM_000186.4(CFH):c.3493+2T>C	CFH	Single nucleotide variant (splice donor variant)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 988138	NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln)	ADAMTS13 (R629Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988137	NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)	ADAMTS13 (A420T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988132	NM_000361.3(THBD):c.376G>T (p.Asp126Tyr)	THBD (D126Y)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 988131	NM_000361.3(THBD):c.763G>C (p.Ala255Pro)	THBD (A255P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988106	NM_172351.3(CD46):c.565T>G (p.Tyr189Asp)	CD46 (Y189D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988105	NM_172351.3(CD46):c.70A>G (p.Met24Val)	CD46, LOC129932405 (M24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988104	NM_172351.3(CD46):c.476-6_476-5delinsG	CD46	Indel (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876703	NM_172351.3(CD46):c.453C>T (p.Ser151=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 875710	NM_172351.3(CD46):c.285T>C (p.Tyr95=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +2 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)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 875337	NM_000186.4(CFH):c.3134-5T>C	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +5 more	GConflicting classifications of pathogenicity
Select item 873626	NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	CFHR5 (N216Y)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GUncertain significance
Select item 872465	NM_000064.4(C3):c.26T>C (p.Leu9Pro)	C3 (L9P)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 829990	NM_001710.6(CFB):c.1374G>A (p.Met458Ile)	CFB (M458I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 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 774281	NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala)	CFHR3 (G18A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 717499	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	CFHR5 (M514R)	Single nucleotide variant (missense variant)	not specified +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 714756	NM_000064.4(C3):c.3970-8C>T	C3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 713772	NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign/Likely benign
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)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GConflicting classifications of pathogenicity
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

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