"Ambry Genetics"[submitter] AND "INF2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1785881	NM_022489.4(INF2):c.20C>T (p.Ala7Val)	INF2 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 312676	NM_022489.4(INF2):c.37G>A (p.Ala13Thr)	INF2 (A13T)	Single nucleotide variant (missense variant)	INF2-related condition +4 more	GBenign/Likely benign
Select item 1006945	NM_022489.4(INF2):c.76A>C (p.Thr26Pro)	INF2 (T26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 312677	NM_022489.4(INF2):c.144C>T (p.Val48=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign/Likely benign
Select item 540048	NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)	INF2 (Y50*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1775026	NM_022489.4(INF2):c.154G>T (p.Gly52Cys)	INF2 (G52C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472840	NM_022489.4(INF2):c.186C>T (p.Gly62=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1793231	NM_022489.4(INF2):c.256G>T (p.Gly86Cys)	INF2 (G86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472843	NM_022489.4(INF2):c.261C>T (p.Arg87=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 540062	NM_022489.4(INF2):c.264C>T (p.Gly88=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 841546	NM_022489.4(INF2):c.271C>G (p.Arg91Gly)	INF2 (R91G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1728411	NM_022489.4(INF2):c.316C>T (p.Arg106Cys)	INF2 (R106C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472860	NM_022489.4(INF2):c.363C>T (p.Asn121=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 2495501	NM_022489.4(INF2):c.364C>A (p.Gln122Lys)	INF2 (Q122K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472861	NM_022489.4(INF2):c.366G>A (p.Gln122=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1011558	NM_022489.4(INF2):c.368G>A (p.Gly123Asp)	INF2 (G123D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 30867	NM_022489.4(INF2):c.383T>C (p.Leu128Pro)	INF2 (L128P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2622235	NM_022489.4(INF2):c.403_404delinsAA (p.Ser135Asn)	INF2 (S135N)	Indel (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619295	NM_022489.4(INF2):c.403T>A (p.Ser135Thr)	INF2 (S135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619296	NM_022489.4(INF2):c.404C>A (p.Ser135Tyr)	INF2 (S135Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472866	NM_022489.4(INF2):c.408C>T (p.Asn136=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1740772	NM_022489.4(INF2):c.445G>T (p.Ala149Ser)	INF2 (A149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742307	NM_022489.4(INF2):c.466G>A (p.Glu156Lys)	INF2 (E156K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 261626	NM_022489.4(INF2):c.489C>T (p.Asp163=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 643625	NM_022489.4(INF2):c.507+6C>T	INF2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1003777	NM_022489.4(INF2):c.509C>T (p.Thr170Met)	INF2 (T170M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 385467	NM_022489.4(INF2):c.519C>T (p.Ser173=)	INF2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 507193	NM_022489.4(INF2):c.549C>T (p.Asn183=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 540059	NM_022489.4(INF2):c.558C>T (p.Ser186=)	INF2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 952654	NM_022489.4(INF2):c.565G>A (p.Asp189Asn)	INF2 (D189N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 838307	NM_022489.4(INF2):c.580G>A (p.Val194Met)	INF2 (V194M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 576001	NM_022489.4(INF2):c.598G>A (p.Val200Met)	INF2 (V200M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 261627	NM_022489.4(INF2):c.624C>T (p.Pro208=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 540071	NM_022489.4(INF2):c.651G>A (p.Leu217=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1051	NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	INF2 (R218Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 2330346	NM_022489.4(INF2):c.671T>C (p.Leu224Pro)	INF2 (L224P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 472870	NM_022489.4(INF2):c.733C>G (p.Leu245Val)	INF2 (L245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 642302	NM_022489.4(INF2):c.787T>G (p.Ser263Ala)	INF2 (S263A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 507967	NM_022489.4(INF2):c.798C>G (p.Val266=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +4 more	GLikely benign
Select item 1464994	NM_022489.4(INF2):c.839A>G (p.His280Arg)	INF2 (H280R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +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 312679	NM_022489.4(INF2):c.885G>A (p.Leu295=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 577419	NM_022489.4(INF2):c.916C>T (p.Arg306Cys)	INF2 (R306C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1766075	NM_022489.4(INF2):c.917G>A (p.Arg306His)	INF2 (R306H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 312680	NM_022489.4(INF2):c.966C>T (p.Ala322=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 384034	NM_022489.4(INF2):c.973C>T (p.Leu325=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 807181	NM_022489.4(INF2):c.1040G>A (p.Arg347Gln)	INF2 (R347Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 663199	NM_022489.4(INF2):c.1067C>T (p.Ala356Val)	INF2 (A356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2606152	NM_022489.4(INF2):c.1088A>G (p.Asn363Ser)	INF2 (N363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423962	NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)	INF2 (Q366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1795255	NM_022489.4(INF2):c.1111A>G (p.Ser371Gly)	INF2 (S371G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GUncertain significance
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 864010	NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)	INF2 (K380R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 312685	NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)	INF2 (S382G)	Single nucleotide variant (missense variant)	INF2-related condition +4 more	GBenign/Likely benign
Select item 429808	NM_022489.4(INF2):c.1147G>A (p.Val383Met)	INF2 (V383M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 1734107	NM_022489.4(INF2):c.1151A>T (p.Glu384Val)	INF2 (E384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743750	NM_022489.4(INF2):c.1187C>T (p.Pro396Leu)	INF2 (P396L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 312686	NM_022489.4(INF2):c.1197C>T (p.His399=)	INF2	Single nucleotide variant (synonymous 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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1473163	NM_022489.4(INF2):c.1209G>C (p.Glu403Asp)	INF2 (E403D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1751240	NM_022489.4(INF2):c.1214T>C (p.Ile405Thr)	INF2 (I405T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 860938	NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)	INF2 (P422S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +3 more	GConflicting classifications of pathogenicity
Select item 660854	NM_022489.4(INF2):c.1304C>T (p.Ala435Val)	INF2 (A435V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 514013	NM_022489.4(INF2):c.1372C>T (p.Pro458Ser)	INF2 (P458S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1771909	NM_022489.4(INF2):c.1406T>G (p.Met469Arg)	INF2 (M469R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 645639	NM_022489.4(INF2):c.1409C>A (p.Ala470Asp)	INF2 (A470D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +3 more	GLikely benign
Select item 312688	NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)	INF2 (C484Y)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 383168	NM_022489.4(INF2):c.1452T>C (p.Cys484=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GBenign/Likely benign
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 935822	NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)	INF2 (P528A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 312689	NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)	INF2 (P528S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 312690	NM_022489.4(INF2):c.1587C>T (p.Pro529=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 948818	NM_022489.4(INF2):c.1588G>A (p.Val530Met)	INF2 (V530M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1366717	NM_022489.4(INF2):c.1612A>G (p.Ile538Val)	INF2 (I538V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GUncertain significance
Select item 506345	NM_022489.4(INF2):c.1614C>T (p.Ile538=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +3 more	GLikely benign
Select item 1201695	NM_022489.4(INF2):c.1615G>A (p.Val539Met)	INF2 (V539M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 599110	NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)	INF2 (G547D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 312691	NM_022489.4(INF2):c.1647A>G (p.Ala549=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2268331	NM_022489.4(INF2):c.1688G>A (p.Arg563His)	INF2 (R563H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703811	NM_022489.4(INF2):c.1732C>T (p.Arg578Cys)	INF2 (R578C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 472838	NM_022489.4(INF2):c.1736-6C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +3 more	GLikely benign
Select item 1779446	NM_022489.4(INF2):c.1754C>T (p.Ala585Val)	INF2 (A585V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 312692	NM_022489.4(INF2):c.1755G>A (p.Ala585=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 312693	NM_022489.4(INF2):c.1770C>T (p.Pro590=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +4 more	GBenign/Likely benign
Select item 447576	NM_022489.4(INF2):c.1771G>A (p.Asp591Asn)	INF2 (D591N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 517839	NM_022489.4(INF2):c.1773C>T (p.Asp591=)	INF2	Single nucleotide variant (synonymous variant)	INF2-related condition +4 more	GBenign/Likely benign
Select item 383078	NM_022489.4(INF2):c.1791C>T (p.Pro597=)	INF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1393855	NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)	INF2 (D598N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 472839	NM_022489.4(INF2):c.1821C>A (p.Ser607=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1780807	NM_022489.4(INF2):c.1824C>G (p.Phe608Leu)	INF2 (F608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 498799	NM_022489.4(INF2):c.1864C>G (p.Arg622Gly)	INF2 (R622G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1781574	NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)	INF2 (R622P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1782006	NM_022489.4(INF2):c.1888A>G (p.Ile630Val)	INF2 (I630V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639154	NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)	INF2 (K636R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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