ClinVar for MedGen (Select 483045) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242004	NM_000204.5(CFI):c.1369T>C (p.Ser457Pro)	CFI (S254P +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency	GUncertain significance
Select item 3235996	NM_000204.5(CFI):c.-4C>T	CFI	Single nucleotide variant (5 prime UTR variant +1 more)	Factor I deficiency	GUncertain significance
Select item 2627275	NM_000204.5(CFI):c.658+1G>A	CFI	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2498165	NM_000204.5(CFI):c.262C>A (p.Gln88Lys)	CFI (Q88K)	Single nucleotide variant (missense variant +2 more)	Factor I deficiency	GUncertain significance
Select item 2055075	NM_000204.5(CFI):c.191C>T (p.Pro64Leu)	CFI (P64L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1687460	NM_000204.5(CFI):c.803C>T (p.Ser268Leu)	CFI (S268L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Factor I deficiency	GUncertain significance
Select item 1665372	NM_000204.5(CFI):c.546A>G (p.Leu182=)	CFI	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 1656570	NM_000204.5(CFI):c.1430-19G>A	CFI	Single nucleotide variant (intron variant)	Factor I deficiency +3 more	GLikely benign
Select item 1634251	NM_000204.5(CFI):c.12T>A (p.Leu4=)	CFI	Single nucleotide variant (synonymous variant +2 more)	Factor I deficiency +3 more	GLikely benign
Select item 1628377	NM_000204.5(CFI):c.729T>A (p.Gly243=)	CFI	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1597166	NM_000204.5(CFI):c.192G>C (p.Pro64=)	CFI	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 1592730	NM_000204.5(CFI):c.705T>C (p.Ile235=)	CFI	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1576894	NM_000204.5(CFI):c.1656A>G (p.Lys552=)	CFI	Single nucleotide variant (synonymous variant +2 more)	Age related macular degeneration 13 +3 more	GLikely benign
Select item 1574326	NM_000204.5(CFI):c.429C>T (p.Ser143=)	CFI	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 1533517	NM_000204.5(CFI):c.482+7G>A	CFI	Single nucleotide variant (intron variant)	Factor I deficiency +3 more	GLikely benign
Select item 1515028	NM_000204.5(CFI):c.530A>T (p.Asn177Ile)	CFI (N177I)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1489275	NM_000204.5(CFI):c.662C>A (p.Ser221Tyr)	CFI (S18Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 1481445	NM_000204.5(CFI):c.1150G>A (p.Ala384Thr)	CFI (A365T +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +3 more	GUncertain significance
Select item 1458867	NM_000204.5(CFI):c.1450_1454del (p.Leu484fs)	CFI (L465fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1451295	NM_000204.5(CFI):c.772G>A (p.Ala258Thr)	CFI (A258T +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GPathogenic/Likely pathogenic
Select item 1449003	NM_000204.5(CFI):c.1019T>C (p.Ile340Thr)	CFI (I333T +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1426300	NM_000204.5(CFI):c.1399T>C (p.Cys467Arg)	CFI (C460R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 1410791	NM_000204.5(CFI):c.248C>G (p.Pro83Arg)	CFI (P83R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1409197	NM_000204.5(CFI):c.848A>G (p.Asp283Gly)	CFI (D283G +1 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +3 more	GUncertain significance
Select item 1404667	NM_000204.5(CFI):c.130G>A (p.Asp44Asn)	CFI (D44N)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1403457	NM_000204.5(CFI):c.601A>G (p.Arg201Gly)	CFI (R201G)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1399319	NM_000204.5(CFI):c.1016G>A (p.Arg339Gln)	CFI (R339Q +4 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 13 +4 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 1368212	NM_000204.5(CFI):c.325G>A (p.Glu109Lys)	CFI (E109K)	Single nucleotide variant (missense variant +2 more)	Factor I deficiency +4 more	GUncertain significance
Select item 1367661	NM_000204.5(CFI):c.1479C>A (p.Ser493Arg)	CFI (S290R +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +3 more	GUncertain significance
Select item 1363307	NM_000204.5(CFI):c.280C>T (p.Leu94Phe)	CFI (L94F)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 1361826	NM_000204.5(CFI):c.439A>G (p.Met147Val)	CFI (M147V)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 1356015	NM_000204.5(CFI):c.1216C>T (p.Arg406Cys)	CFI (R203C +4 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 1354283	NM_000204.5(CFI):c.1291G>T (p.Ala431Ser)	CFI (A424S +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GUncertain significance
Select item 1312459	NM_000204.5(CFI):c.773-3C>T	CFI	Single nucleotide variant (intron variant)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 1209766	NM_000204.5(CFI):c.772+61G>A	CFI	Single nucleotide variant (intron variant)	Factor I deficiency +1 more	GBenign
Select item 1209765	NM_000204.5(CFI):c.884-63C>A	CFI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209764	NM_000204.5(CFI):c.941-49C>G	CFI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1179053	NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)	CFI (W343* +4 more)	Single nucleotide variant (nonsense +2 more)	Age related macular degeneration 13 +2 more	GLikely pathogenic
Select item 1179031	NM_000204.5(CFI):c.763_772+9delinsGTATCCAC	CFI	Indel (splice donor variant)	Age related macular degeneration 13 +2 more	GPathogenic
Select item 1166429	NM_000204.5(CFI):c.329-14dup	CFI	Duplication (intron variant)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GBenign/Likely benign
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 1006658	NM_000204.5(CFI):c.1533A>G (p.Ala511=)	CFI	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GUncertain significance
Select item 903199	NM_000204.5(CFI):c.424A>C (p.Lys142Gln)	CFI (K142Q)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GUncertain significance
Select item 900656	NM_000204.5(CFI):c.950G>A (p.Arg317Gln)	CFI (R317Q +4 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 899595	NM_000204.5(CFI):c.1A>G (p.Met1Val)	CFI (M1V)	Single nucleotide variant (missense variant +3 more)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 748861	NM_000204.5(CFI):c.1378C>T (p.Leu460=)	CFI	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 631934	NM_000204.5(CFI):c.559C>T (p.Arg187Ter)	CFI (R187*)	Single nucleotide variant (nonsense +2 more)	Age related macular degeneration 13 +3 more	GPathogenic/Likely pathogenic
Select item 625917	NM_000204.5(CFI):c.1532C>T (p.Ala511Val)	CFI (A511V +4 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 13 +4 more	GUncertain significance
Select item 599091	NM_000204.5(CFI):c.205A>G (p.Lys69Glu)	CFI (K69E)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 560185	NM_000204.5(CFI):c.162C>G (p.Cys54Trp)	CFI (C54W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 452535	NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)	CFI (Y411* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GLikely pathogenic
Select item 438686	NM_000204.5(CFI):c.1709G>C (p.Ser570Thr)	CFI (S570T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 420176	NM_000204.5(CFI):c.454G>A (p.Val152Met)	CFI (V152M)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 13 +3 more	GUncertain significance
Select item 372807	NM_000204.5(CFI):c.452A>G (p.Asn151Ser)	CFI (N151S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347173	NM_000204.5(CFI):c.319A>G (p.Thr107Ala)	CFI (T107A)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GBenign/Likely benign
Select item 347169	NM_000204.5(CFI):c.540A>G (p.Glu180=)	CFI	Single nucleotide variant (synonymous variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GLikely benign
Select item 347167	NM_000204.5(CFI):c.804G>A (p.Ser268=)	CFI	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GBenign
Select item 347162	NM_000204.5(CFI):c.1044+8C>T	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GBenign/Likely benign
Select item 347159	NM_000204.5(CFI):c.1206C>T (p.Pro402=)	CFI	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +4 more	GBenign/Likely benign
Select item 347156	NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)	CFI (K441R +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +7 more	GConflicting classifications of pathogenicity
Select item 347151	NM_000204.5(CFI):c.1429+8T>C	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with I factor anomaly +4 more	GBenign/Likely benign
Select item 347150	NM_000204.5(CFI):c.1443C>T (p.Val481=)	CFI	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GBenign/Likely benign
Select item 347148	NM_000204.5(CFI):c.1581C>T (p.Gly527=)	CFI	Single nucleotide variant (synonymous variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +4 more	GBenign/Likely benign
Select item 347143	NM_000204.5(CFI):c.*112C>T	CFI	Single nucleotide variant (3 prime UTR variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +2 more	GBenign
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 280145	NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)	CFI (W386fs +4 more)	Microsatellite (frameshift variant +1 more)	Age related macular degeneration 13 +3 more	GPathogenic
Select item 252469	NM_000204.5(CFI):c.1534+5G>T	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +5 more	GBenign/Likely benign
Select item 66014	NM_000204.5(CFI):c.355G>A (p.Gly119Arg)	CFI (G119R)	Single nucleotide variant (missense variant +2 more)	Factor I deficiency +3 more	GConflicting classifications of pathogenicity
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 +5 more	GLikely benign
Select item 12125	NM_000204.5(CFI):c.949C>T (p.Arg317Trp)	CFI (R317W +4 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency +3 more	GUncertain significance
Select item 12124	NM_000204.5(CFI):c.728G>A (p.Gly243Asp)	CFI (G243D +1 more)	Single nucleotide variant (missense variant +1 more)	Factor I deficiency	GPathogenic
Select item 12118	NM_000204.5(CFI):c.1253A>T (p.His418Leu)	CFI (H418L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity

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Items: 75