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Variants search result for Homo sapiens
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48 records found for search term Itfg2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
596944416CV3543147single nucleotide variantNM_018463.4(ITFG2):c.848-1G>ANeurodevelopmental disorder [RCV004799019]likely pathogenic1228216912821691Human1name
407458475CV3451527single nucleotide variantNM_018463.4(ITFG2):c.10G>C (p.Val4Leu)not specified [RCV004633303]uncertain significance1228127702812770Humanname
156253061CV2390117single nucleotide variantNM_018463.4(ITFG2):c.37G>A (p.Glu13Lys)not specified [RCV004240506]uncertain significance1228127972812797Humanname
405805399CV3271624single nucleotide variantNM_018463.4(ITFG2):c.67A>G (p.Ile23Val)not specified [RCV004405494]uncertain significance1228128272812827Humanname
597766900CV3690585single nucleotide variantNM_018463.4(ITFG2):c.93T>A (p.Asp31Glu)not specified [RCV004927051]uncertain significance1228128532812853Humanname
156220641CV2222369single nucleotide variantNM_018463.4(ITFG2):c.122C>T (p.Thr41Ile)not specified [RCV004099235]uncertain significance1228172482817248Humanname
155932220CV2290532single nucleotide variantNM_018463.4(ITFG2):c.157A>G (p.Ser53Gly)not specified [RCV004155219]uncertain significance1228172832817283Humanname
401864611CV2781889single nucleotide variantNM_018463.4(ITFG2):c.218T>A (p.Val73Glu)not specified [RCV004356830]uncertain significance1228179342817934Humanname
405805388CV3271618single nucleotide variantNM_018463.4(ITFG2):c.109G>T (p.Val37Leu)not specified [RCV004405488]uncertain significance1228172352817235Humanname
405805393CV3271621single nucleotide variantNM_018463.4(ITFG2):c.280G>T (p.Asp94Tyr)not specified [RCV004405491]uncertain significance1228181512818151Humanname
407458465CV3451524single nucleotide variantNM_018463.4(ITFG2):c.146A>G (p.Lys49Arg)not specified [RCV004633300]uncertain significance1228172722817272Humanname
407458471CV3451526single nucleotide variantNM_018463.4(ITFG2):c.148A>G (p.Asn50Asp)not specified [RCV004633302]uncertain significance1228172742817274Humanname
598211172CV3972551single nucleotide variantNM_018463.4(ITFG2):c.292G>T (p.Ala98Ser)not specified [RCV005358640]uncertain significance1228181632818163Humanname
598211179CV3972552single nucleotide variantNM_018463.4(ITFG2):c.293C>T (p.Ala98Val)not specified [RCV005358641]uncertain significance1228181642818164Humanname
598195402CV3972555single nucleotide variantNM_018463.4(ITFG2):c.119A>T (p.Asp40Val)not specified [RCV005354987]uncertain significance1228172452817245Humanname
598211186CV3972556single nucleotide variantNM_018463.4(ITFG2):c.201C>G (p.Cys67Trp)not specified [RCV005358642]uncertain significance1228179172817917Humanname
156225058CV2229963single nucleotide variantNM_018463.4(ITFG2):c.422G>A (p.Arg141His)not specified [RCV004105496]uncertain significance1228201012820101Humanname
156049328CV2241895single nucleotide variantNM_018463.4(ITFG2):c.806A>C (p.Glu269Ala)not specified [RCV004106809]uncertain significance1228215552821555Humanname
156286244CV2360889single nucleotide variantNM_018463.4(ITFG2):c.575C>T (p.Pro192Leu)not specified [RCV004213658]uncertain significance1228207522820752Humanname
156268893CV2372112single nucleotide variantNM_018463.4(ITFG2):c.799G>A (p.Gly267Ser)not specified [RCV004221770]likely benign1228215482821548Humanname
156269748CV2379373single nucleotide variantNM_018463.4(ITFG2):c.955G>A (p.Gly319Arg)not specified [RCV004223830]uncertain significance1228228002822800Humanname
329375915CV2466288single nucleotide variantNM_018463.4(ITFG2):c.569T>A (p.Leu190Gln)not specified [RCV004280218]uncertain significance1228207462820746Humanname
329380304CV2466537single nucleotide variantNM_018463.4(ITFG2):c.689G>T (p.Gly230Val)not specified [RCV004274077]uncertain significance1228208662820866Humanname
401728059CV2685792single nucleotide variantNM_018463.4(ITFG2):c.385G>A (p.Val129Ile)not specified [RCV004294781]uncertain significance1228182562818256Humanname
401783031CV2703728single nucleotide variantNM_018463.4(ITFG2):c.347G>T (p.Arg116Leu)not specified [RCV004306612]uncertain significance1228182182818218Humanname
401771685CV2711836single nucleotide variantNM_018463.4(ITFG2):c.400G>A (p.Asp134Asn)not specified [RCV004309470]uncertain significance1228182712818271Humanname
401873689CV2757720single nucleotide variantNM_018463.4(ITFG2):c.703C>T (p.Pro235Ser)not specified [RCV004336873]uncertain significance1228212692821269Humanname
401890042CV2763604single nucleotide variantNM_018463.4(ITFG2):c.347G>A (p.Arg116His)not specified [RCV004343113]uncertain significance1228182182818218Humanname
405805397CV3271623single nucleotide variantNM_018463.4(ITFG2):c.637A>G (p.Thr213Ala)not specified [RCV004405493]uncertain significance1228208142820814Humanname
405805401CV3271625single nucleotide variantNM_018463.4(ITFG2):c.713G>A (p.Arg238Gln)not specified [RCV004405495]uncertain significance1228212792821279Humanname
405805403CV3271626single nucleotide variantNM_018463.4(ITFG2):c.760G>A (p.Val254Ile)not specified [RCV004405496]uncertain significance1228213262821326Humanname
407458477CV3451528single nucleotide variantNM_018463.4(ITFG2):c.341A>G (p.Glu114Gly)not specified [RCV004633304]uncertain significance1228182122818212Humanname
407458480CV3451529single nucleotide variantNM_018463.4(ITFG2):c.437G>C (p.Gly146Ala)not specified [RCV004633305]uncertain significance1228201162820116Humanname
597766373CV3690583single nucleotide variantNM_018463.4(ITFG2):c.304G>A (p.Asp102Asn)not specified [RCV004927049]uncertain significance1228181752818175Humanname
13211799CV425969single nucleotide variantNM_018463.4(ITFG2):c.425A>G (p.Glu142Gly)not provided [RCV000497930]uncertain significance1228201042820104Humanname
155927842CV2227401single nucleotide variantNM_018463.4(ITFG2):c.1075G>A (p.Ala359Thr)not specified [RCV004092067]uncertain significance1228237782823778Humanname
156241401CV2286115single nucleotide variantNM_018463.4(ITFG2):c.1149G>T (p.Glu383Asp)not specified [RCV004145790]uncertain significance1228238522823852Humanname
156185620CV2377860single nucleotide variantNM_018463.4(ITFG2):c.1205C>T (p.Pro402Leu)not specified [RCV004230434]uncertain significance1228239082823908Humanname
329397775CV2464005single nucleotide variantNM_018463.4(ITFG2):c.1087G>A (p.Gly363Ser)not specified [RCV004273718]uncertain significance1228237902823790Humanname
405805386CV3271617single nucleotide variantNM_018463.4(ITFG2):c.1012A>G (p.Asn338Asp)not specified [RCV004405487]uncertain significance1228228572822857Humanname
405805390CV3271619single nucleotide variantNM_018463.4(ITFG2):c.1249G>A (p.Asp417Asn)not specified [RCV004405489]uncertain significance1228240982824098Humanname
405805392CV3271620single nucleotide variantNM_018463.4(ITFG2):c.1289A>G (p.Tyr430Cys)not specified [RCV004405490]uncertain significance1228241382824138Humanname
407511439CV3451523single nucleotide variantNM_018463.4(ITFG2):c.1031T>G (p.Phe344Cys)not specified [RCV004626463]uncertain significance1228228762822876Humanname
407458468CV3451525single nucleotide variantNM_018463.4(ITFG2):c.1108G>A (p.Val370Ile)not specified [RCV004633301]uncertain significance1228238112823811Humanname
597766378CV3690584single nucleotide variantNM_018463.4(ITFG2):c.1243C>T (p.Pro415Ser)not specified [RCV004927050]uncertain significance1228240922824092Humanname
598195389CV3972553single nucleotide variantNM_018463.4(ITFG2):c.1237G>A (p.Val413Met)not specified [RCV005354985]uncertain significance1228239402823940Humanname
598195395CV3972554single nucleotide variantNM_018463.4(ITFG2):c.1163G>A (p.Arg388Gln)not specified [RCV005354986]uncertain significance1228238662823866Humanname
598170856CV3972557single nucleotide variantNM_018463.4(ITFG2):c.1090C>G (p.Arg364Gly)not specified [RCV005370442]uncertain significance1228237932823793Humanname