C2750475[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261625	NM_022489.4(INF2):c.42G>A (p.Leu14=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +4 more	GBenign
Select item 599131	NM_022489.4(INF2):c.217G>A (p.Gly73Ser)	INF2 (G73S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GPathogenic
Select item 1148211	NM_022489.4(INF2):c.255G>T (p.Ser85=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 540062	NM_022489.4(INF2):c.264C>T (p.Gly88=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1099631	NM_022489.4(INF2):c.279C>T (p.Ser93=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1139940	NM_022489.4(INF2):c.306C>T (p.Val102=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 705453	NM_022489.4(INF2):c.354C>T (p.Ile118=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GLikely benign
Select item 1563974	NM_022489.4(INF2):c.372C>T (p.Tyr124=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1572414	NM_022489.4(INF2):c.392-13_392-9dup	INF2	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GBenign/Likely benign
Select item 569980	NM_022489.4(INF2):c.409G>A (p.Val137Met)	INF2 (V137M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 883383	NM_022489.4(INF2):c.474C>T (p.His158=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GBenign/Likely benign
Select item 261626	NM_022489.4(INF2):c.489C>T (p.Asp163=)	INF2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 637702	NM_022489.4(INF2):c.494T>C (p.Leu165Pro)	INF2 (L165P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 312678	NM_022489.4(INF2):c.507+7G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +2 more	GBenign/Likely benign
Select item 1003777	NM_022489.4(INF2):c.509C>T (p.Thr170Met)	INF2 (T170M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 680474	NM_022489.4(INF2):c.510G>A (p.Thr170=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GBenign/Likely benign
Select item 599128	NM_022489.4(INF2):c.550G>A (p.Glu184Lys)	INF2 (E184K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 540059	NM_022489.4(INF2):c.558C>T (p.Ser186=)	INF2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1132511	NM_022489.4(INF2):c.579C>T (p.Tyr193=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 618692	NM_022489.4(INF2):c.609C>T (p.Ala203=)	INF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 261627	NM_022489.4(INF2):c.624C>T (p.Pro208=)	INF2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 663731	NM_022489.4(INF2):c.638C>T (p.Ala213Val)	INF2 (A213V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GConflicting classifications of pathogenicity
Select item 1053	NM_022489.4(INF2):c.641G>A (p.Arg214His)	INF2 (R214H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 1052	NM_022489.4(INF2):c.652C>T (p.Arg218Trp)	INF2 (R218W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 1051	NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	INF2 (R218Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +4 more	GPathogenic/Likely pathogenic
Select item 994030	NM_022489.4(INF2):c.654G>T (p.Arg218=)	INF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 523533	NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	INF2 (E220K)	Single nucleotide variant (missense variant)	Hypertensive disorder +6 more	GPathogenic/Likely pathogenic
Select item 1355417	NM_022489.4(INF2):c.667G>A (p.Gly223Arg)	INF2 (G223R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 382565	NM_022489.4(INF2):c.668-12G>A	INF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 1428952	NM_022489.4(INF2):c.685G>A (p.Val229Ile)	INF2 (V229I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1118995	NM_022489.4(INF2):c.717C>T (p.Ala239=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 705371	NM_022489.4(INF2):c.744C>T (p.Phe248=)	INF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1375053	NM_022489.4(INF2):c.760G>A (p.Glu254Lys)	INF2 (E254K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1603228	NM_022489.4(INF2):c.765C>T (p.Asp255=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 507967	NM_022489.4(INF2):c.798C>G (p.Val266=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +4 more	GLikely benign
Select item 568121	NM_022489.4(INF2):c.799G>A (p.Asp267Asn)	INF2 (D267N)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 1464994	NM_022489.4(INF2):c.839A>G (p.His280Arg)	INF2 (H280R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 472871	NM_022489.4(INF2):c.844-6G>A	INF2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 261629	NM_022489.4(INF2):c.879G>A (p.Ser293=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 962164	NM_022489.4(INF2):c.986-9C>G	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1525511	NM_022489.4(INF2):c.994T>G (p.Cys332Gly)	INF2 (C332G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 663199	NM_022489.4(INF2):c.1067C>T (p.Ala356Val)	INF2 (A356V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GConflicting classifications of pathogenicity
Select item 246490	NM_022489.4(INF2):c.1115C>T (p.Ser372Phe)	INF2 (S372F)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 312684	NM_022489.4(INF2):c.1126A>T (p.Thr376Ser)	INF2 (T376S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 245865	NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)	INF2 (E395K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GUncertain significance
Select item 373658	NM_022489.4(INF2):c.1189G>A (p.Val397Met)	INF2 (V397M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 863173	NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)	INF2 (E403G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 1408421	NM_022489.4(INF2):c.1226C>T (p.Ser409Leu)	INF2 (S409L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 592004	NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup)	INF2	Microsatellite (inframe_insertion)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1019747	NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)	INF2	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GConflicting classifications of pathogenicity
Select item 882384	NM_022489.4(INF2):c.1263A>C (p.Pro421=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GBenign/Likely benign
Select item 1059350	NM_022489.4(INF2):c.1280C>T (p.Pro427Leu)	INF2 (P427L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1079217	NM_022489.4(INF2):c.1293T>C (p.Pro431=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1530487	NM_022489.4(INF2):c.1299C>T (p.Ser433=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1522421	NM_022489.4(INF2):c.1308G>T (p.Glu436Asp)	INF2 (E436D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 654550	NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)	INF2 (P437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 957479	NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)	INF2	Deletion (inframe_deletion)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1609932	NM_022489.4(INF2):c.1377G>A (p.Pro459=)	INF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1058073	NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del)	INF2 (P475del)	Microsatellite (inframe_deletion)	Focal segmental glomerulosclerosis 5 +2 more	GUncertain significance
Select item 845044	NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)	INF2 (S483A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 312688	NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)	INF2 (C484Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +4 more	GBenign/Likely benign
Select item 1137635	NM_022489.4(INF2):c.1458C>T (p.Phe486=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 1001878	NM_022489.4(INF2):c.1466C>T (p.Pro489Leu)	INF2 (P489L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 651536	NM_022489.4(INF2):c.1485G>A (p.Pro495=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GConflicting classifications of pathogenicity
Select item 1425223	NM_022489.4(INF2):c.1493G>T (p.Gly498Val)	INF2 (G498V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 380889	NM_022489.4(INF2):c.1503C>T (p.Pro501=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1361295	NM_022489.4(INF2):c.1571G>C (p.Cys524Ser)	INF2 (C524S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 935822	NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)	INF2 (P528A)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 948818	NM_022489.4(INF2):c.1588G>A (p.Val530Met)	INF2 (V530M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 1161336	NM_022489.4(INF2):c.1632T>C (p.His544=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 599110	NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)	INF2 (G547D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GBenign/Likely benign
Select item 1082815	NM_022489.4(INF2):c.1725C>T (p.Asn575=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1179196	NM_022489.4(INF2):c.1735+1G>A	INF2	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely pathogenic
Select item 261604	NM_022489.4(INF2):c.1736-18C>T	INF2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 472838	NM_022489.4(INF2):c.1736-6C>T	INF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate E +3 more	GLikely benign
Select item 312692	NM_022489.4(INF2):c.1755G>A (p.Ala585=)	INF2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 312693	NM_022489.4(INF2):c.1770C>T (p.Pro590=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 517839	NM_022489.4(INF2):c.1773C>T (p.Asp591=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1393855	NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)	INF2 (D598N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 312695	NM_022489.4(INF2):c.1806C>T (p.Ile602=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 571751	NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)	INF2 (R604Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 1040245	NM_022489.4(INF2):c.1949+3G>A	INF2, LOC130056630	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1572757	NM_022489.4(INF2):c.1950-20C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1142358	NM_022489.4(INF2):c.1950-10C>A	INF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 581537	NM_022489.4(INF2):c.1950-3C>A	INF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1617217	NM_022489.4(INF2):c.1965C>T (p.Val655=)	INF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1330811	NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)	INF2 (R660Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GConflicting classifications of pathogenicity
Select item 641797	NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)	INF2 (T665I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 1628326	NM_022489.4(INF2):c.2053-16G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 649728	NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)	INF2 (R695Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 963636	NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)	INF2 (S700R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1024088	NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)	INF2 (A701T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1096014	NM_022489.4(INF2):c.2103C>T (p.Ala701=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 540077	NM_022489.4(INF2):c.2138+9G>A	INF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 540057	NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)	INF2 (E719K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 540066	NM_022489.4(INF2):c.2181G>A (p.Ala727=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +3 more	GLikely benign
Select item 540060	NM_022489.4(INF2):c.2184C>T (p.Ala728=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1514925	NM_022489.4(INF2):c.2239+16C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 383882	NM_022489.4(INF2):c.2240-5T>C	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1622096	NM_022489.4(INF2):c.2310+12del	INF2	Deletion (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign/Likely benign

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