ClinVar for MedGen (Select 861164) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24348611.	NM_005027.4(PIK3R2):c.867G>A (p.Gln289=) GRCh37: Chr19:18272827 GRCh38: Chr19:18162017	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Dec 18, 2020)	criteria provided, single submitter
Select item 24348602.	NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala) GRCh37: Chr19:18271296 GRCh38: Chr19:18160486	PIK3R2	D113A	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jun 9, 2021)	criteria provided, single submitter
Select item 24348593.	NM_005027.4(PIK3R2):c.1883A>G (p.Asn628Ser) GRCh37: Chr19:18279610 GRCh38: Chr19:18168800	PIK3R2	N628S	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24252794.	NC_000019.9:g.(?_17927663)_(19312528_?)dup GRCh37: Chr19:17927663-19312528	ARMC6, ARRDC2, BORCS8, CCDC124, CERS1, COMP, COPE, CRLF1, CRTC1, DDX49, ELL, FKBP8, GDF1, GDF15, HOMER3, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLHL26, KXD1, LRRC25, LSM4, MAST3, MEF2B, MPV17L2, NR2C2AP, PDE4C, PGPEP1, PIK3R2, RAB3A, REX1BD, RFXANK, RPL18A, SLC25A42, SLC5A5, SSBP4, SUGP2, TMEM161A, TMEM59L, UBA52, UPF1		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 24219745.	NM_005027.4(PIK3R2):c.415+17C>T GRCh37: Chr19:18271390 GRCh38: Chr19:18160580	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 24212116.	NM_005027.4(PIK3R2):c.216C>T (p.Gly72=) GRCh37: Chr19:18266905 GRCh38: Chr19:18156095	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 24179647.	NM_005027.4(PIK3R2):c.138T>G (p.Gly46=) GRCh37: Chr19:18266827 GRCh38: Chr19:18156017	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 24166428.	NM_005027.4(PIK3R2):c.467-5C>T GRCh37: Chr19:18271859 GRCh38: Chr19:18161049	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 24133909.	NM_005027.4(PIK3R2):c.780G>A (p.Pro260=) GRCh37: Chr19:18272270 GRCh38: Chr19:18161460	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 219645010.	NM_005027.4(PIK3R2):c.942A>T (p.Thr314=) GRCh37: Chr19:18273052 GRCh38: Chr19:18162242	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 218394711.	NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu) GRCh37: Chr19:18278032 GRCh38: Chr19:18167222	PIK3R2	S551L	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 217370312.	NM_005027.4(PIK3R2):c.1317G>A (p.Val439=) GRCh37: Chr19:18274099 GRCh38: Chr19:18163289	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 216875413.	NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His) GRCh37: Chr19:18278056 GRCh38: Chr19:18167246	PIK3R2	R559H	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 216522514.	NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser) GRCh37: Chr19:18280069 GRCh38: Chr19:18169259	PIK3R2	A718S	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 216078915.	NM_005027.4(PIK3R2):c.1290+19G>A GRCh37: Chr19:18273976 GRCh38: Chr19:18163166	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 216014316.	NM_005027.4(PIK3R2):c.1110-16C>T GRCh37: Chr19:18273761 GRCh38: Chr19:18162951	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 216007417.	NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=) GRCh37: Chr19:18277069 GRCh38: Chr19:18166259	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 215448518.	NM_005027.4(PIK3R2):c.132C>T (p.Ala44=) GRCh37: Chr19:18266821 GRCh38: Chr19:18156011	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215402819.	NM_005027.4(PIK3R2):c.1290+12C>T GRCh37: Chr19:18273969 GRCh38: Chr19:18163159	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 215291920.	NM_005027.4(PIK3R2):c.1109+14C>T GRCh37: Chr19:18273330 GRCh38: Chr19:18162520	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 215090421.	NM_005027.4(PIK3R2):c.1291-11C>T GRCh37: Chr19:18274062 GRCh38: Chr19:18163252	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 214743522.	NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=) GRCh37: Chr19:18279569 GRCh38: Chr19:18168759	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 214644123.	NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys) GRCh37: Chr19:18272837 GRCh38: Chr19:18162027	PIK3R2	E293K	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 214505224.	NM_005027.4(PIK3R2):c.694G>A (p.Val232Met) GRCh37: Chr19:18272184 GRCh38: Chr19:18161374	LOC130063979, PIK3R2	V232M	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 214032325.	NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=) GRCh37: Chr19:18279554 GRCh38: Chr19:18168744	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 213887926.	NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=) GRCh37: Chr19:18273828 GRCh38: Chr19:18163018	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 213827927.	NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=) GRCh37: Chr19:18279617 GRCh38: Chr19:18168807	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 213756928.	NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val) GRCh37: Chr19:18266808 GRCh38: Chr19:18155998	PIK3R2	A40V	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213441229.	NM_005027.4(PIK3R2):c.415+8C>T GRCh37: Chr19:18271381 GRCh38: Chr19:18160571	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213023730.	NM_005027.4(PIK3R2):c.340T>C (p.Leu114=) GRCh37: Chr19:18271298 GRCh38: Chr19:18160488	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 212193631.	NM_005027.4(PIK3R2):c.466+20G>C GRCh37: Chr19:18271799 GRCh38: Chr19:18160989	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 211504732.	NM_005027.4(PIK3R2):c.598+12G>A GRCh37: Chr19:18272007 GRCh38: Chr19:18161197	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 211381033.	NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys) GRCh37: Chr19:18266963 GRCh38: Chr19:18156153	PIK3R2	G92C	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210973534.	NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg) GRCh37: Chr19:18279314 GRCh38: Chr19:18168504	LOC130063980, PIK3R2	K589R	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 210104435.	NM_005027.4(PIK3R2):c.816-9C>T GRCh37: Chr19:18272767 GRCh38: Chr19:18161957	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 209655636.	NM_005027.4(PIK3R2):c.546C>G (p.Pro182=) GRCh37: Chr19:18271943 GRCh38: Chr19:18161133	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 208614637.	NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn) GRCh37: Chr19:18272787 GRCh38: Chr19:18161977	PIK3R2	S276N	Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Conflicting interpretations of pathogenicity (Feb 15, 2023)	criteria provided, conflicting interpretations
Select item 208317138.	NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys) GRCh37: Chr19:18277995 GRCh38: Chr19:18167185	PIK3R2	R539C	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 207924739.	NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu) GRCh37: Chr19:18280063 GRCh38: Chr19:18169253	PIK3R2	V716L	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 207792140.	NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg) GRCh37: Chr19:18279904 GRCh38: Chr19:18169094	PIK3R2	G663R	not provided, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207643241.	NM_005027.4(PIK3R2):c.618G>A (p.Gly206=) GRCh37: Chr19:18272108 GRCh38: Chr19:18161298	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 207286842.	NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser) GRCh37: Chr19:18266948 GRCh38: Chr19:18156138	PIK3R2	G87S	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 207012543.	NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val) GRCh37: Chr19:18273113 GRCh38: Chr19:18162303	PIK3R2	I335V	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206807244.	NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=) GRCh37: Chr19:18273251 GRCh38: Chr19:18162441	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 206285545.	NM_005027.4(PIK3R2):c.186G>A (p.Glu62=) GRCh37: Chr19:18266875 GRCh38: Chr19:18156065	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 205898846.	NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr) GRCh37: Chr19:18266981 GRCh38: Chr19:18156171	PIK3R2	A98T	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 205756347.	NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln) GRCh37: Chr19:18273241 GRCh38: Chr19:18162431	PIK3R2	R345Q	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 205686148.	NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro) GRCh37: Chr19:18272259-18272260 GRCh38: Chr19:18161449-18161450	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, PIK3R2-related condition	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204802449.	NM_005027.4(PIK3R2):c.60G>A (p.Pro20=) GRCh37: Chr19:18266749 GRCh38: Chr19:18155939	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 204640750.	NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys) GRCh37: Chr19:18271304 GRCh38: Chr19:18160494	PIK3R2	E116K	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 204156451.	NM_005027.4(PIK3R2):c.87C>T (p.Asp29=) GRCh37: Chr19:18266776 GRCh38: Chr19:18155966	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 204025352.	NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys) GRCh37: Chr19:18273883 GRCh38: Chr19:18163073	PIK3R2	R406C	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 203915253.	NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu) GRCh37: Chr19:18273075 GRCh38: Chr19:18162265	PIK3R2	P322L	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, not provided	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203864154.	NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp) GRCh37: Chr19:18266744 GRCh38: Chr19:18155934	PIK3R2	R19W	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 203861055.	NM_005027.4(PIK3R2):c.322+18G>C GRCh37: Chr19:18267029 GRCh38: Chr19:18156219	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 203637156.	NM_005027.4(PIK3R2):c.416-5C>G GRCh37: Chr19:18271724 GRCh38: Chr19:18160914	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 203489457.	NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr) GRCh37: Chr19:18273059 GRCh38: Chr19:18162249	PIK3R2	A317T	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 203174358.	NM_005027.4(PIK3R2):c.466+17A>G GRCh37: Chr19:18271796 GRCh38: Chr19:18160986	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 202596059.	NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val) GRCh37: Chr19:18273256 GRCh38: Chr19:18162446	PIK3R2	G350V	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 202434660.	NM_005027.4(PIK3R2):c.1736+6T>G GRCh37: Chr19:18278122 GRCh38: Chr19:18167312	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 201876061.	NM_005027.4(PIK3R2):c.267C>T (p.Arg89=) GRCh37: Chr19:18266956 GRCh38: Chr19:18156146	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 201369762.	NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=) GRCh37: Chr19:18278045 GRCh38: Chr19:18167235	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 200083463.	NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys) GRCh37: Chr19:18266843 GRCh38: Chr19:18156033	PIK3R2	Q52K	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 200013764.	NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=) GRCh37: Chr19:18273780 GRCh38: Chr19:18162970	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199946765.	NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly) GRCh37: Chr19:18271772-18271773 GRCh38: Chr19:18160962-18160963	PIK3R2	R154G	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 198479466.	NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser) GRCh37: Chr19:18279323 GRCh38: Chr19:18168513	LOC130063980, PIK3R2	N592S	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 198342167.	NM_005027.4(PIK3R2):c.120G>A (p.Ala40=) GRCh37: Chr19:18266809 GRCh38: Chr19:18155999	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 197031068.	NM_005027.4(PIK3R2):c.1979+12G>A GRCh37: Chr19:18279718 GRCh38: Chr19:18168908	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 195412269.	NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp) GRCh37: Chr19:18271992 GRCh38: Chr19:18161182	LOC130063979, PIK3R2	R199W	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Inborn genetic diseases	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 195191570.	NM_005027.4(PIK3R2):c.855G>A (p.Glu285=) GRCh37: Chr19:18272815 GRCh38: Chr19:18162005	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 195175971.	NM_005027.4(PIK3R2):c.372T>C (p.Ala124=) GRCh37: Chr19:18271330 GRCh38: Chr19:18160520	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 193051972.	NM_005027.4(PIK3R2):c.1736+5G>C GRCh37: Chr19:18278121 GRCh38: Chr19:18167311	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 192608173.	NM_005027.4(PIK3R2):c.874T>C (p.Leu292=) GRCh37: Chr19:18272834 GRCh38: Chr19:18162024	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 192563074.	NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro) GRCh37: Chr19:18272254-18272255 GRCh38: Chr19:18161444-18161445	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 191545475.	NM_005027.4(PIK3R2):c.159C>T (p.Ser53=) GRCh37: Chr19:18266848 GRCh38: Chr19:18156038	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 190785576.	NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys) GRCh37: Chr19:18277956 GRCh38: Chr19:18167146	PIK3R2	E526K	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 190257577.	NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val) GRCh37: Chr19:18280070 GRCh38: Chr19:18169260	PIK3R2	A718V	Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190141078.	NM_005027.4(PIK3R2):c.323-8C>T GRCh37: Chr19:18271273 GRCh38: Chr19:18160463	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 189826879.	NM_005027.4(PIK3R2):c.1980-4A>C GRCh37: Chr19:18279893 GRCh38: Chr19:18169083	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 171591680.	NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala) GRCh37: Chr19:18271286 GRCh38: Chr19:18160476	PIK3R2	T110A	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 170985581.	NM_005027.4(PIK3R2):c.496G>C (p.Asp166His) GRCh37: Chr19:18271893 GRCh38: Chr19:18161083	PIK3R2	D166H	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 170528982.	NM_005027.4(PIK3R2):c.2063C>T (p.Ser688Leu) GRCh37: Chr19:18279980 GRCh38: Chr19:18169170	PIK3R2	S688L	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 167497283.	NM_005027.4(PIK3R2):c.323-15del GRCh37: Chr19:18271266 GRCh38: Chr19:18160456	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 167406684.	NM_005027.4(PIK3R2):c.240C>T (p.Pro80=) GRCh37: Chr19:18266929 GRCh38: Chr19:18156119	PIK3R2		not provided, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166829385.	NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=) GRCh37: Chr19:18279542 GRCh38: Chr19:18168732	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 164439486.	NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=) GRCh37: Chr19:18274162 GRCh38: Chr19:18163352	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 162969287.	NM_005027.4(PIK3R2):c.323-16_323-15del GRCh37: Chr19:18271265-18271266 GRCh38: Chr19:18160455-18160456	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Oct 12, 2022)	criteria provided, single submitter
Select item 162431188.	NM_005027.4(PIK3R2):c.1291-15G>A GRCh37: Chr19:18274058 GRCh38: Chr19:18163248	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 162194789.	NM_005027.4(PIK3R2):c.1559+12G>A GRCh37: Chr19:18277124 GRCh38: Chr19:18166314	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 161318490.	NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=) GRCh37: Chr19:18279991 GRCh38: Chr19:18169181	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 161266391.	NM_005027.4(PIK3R2):c.1809-7A>T GRCh37: Chr19:18279529 GRCh38: Chr19:18168719	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 161048792.	NM_005027.4(PIK3R2):c.322+18G>T GRCh37: Chr19:18267029 GRCh38: Chr19:18156219	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 160792393.	NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) GRCh37: Chr19:18278062 GRCh38: Chr19:18167252	PIK3R2	N561S	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Jul 18, 2022)	criteria provided, single submitter
Select item 160735094.	NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp) GRCh37: Chr19:18279921 GRCh38: Chr19:18169111	PIK3R2	C668W	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 160502295.	NM_005027.4(PIK3R2):c.815+5GGGGC[3] GRCh37: Chr19:18272309-18272310 GRCh38: Chr19:18161499-18161500	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 160299496.	NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=) GRCh37: Chr19:18279701 GRCh38: Chr19:18168891	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 160136497.	NM_005027.4(PIK3R2):c.1809-8dup GRCh37: Chr19:18279522-18279523 GRCh38: Chr19:18168712-18168713	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 160009698.	NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) GRCh37: Chr19:18280088 GRCh38: Chr19:18169278	PIK3R2	P724L	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Feb 4, 2022)	criteria provided, single submitter
Select item 159951199.	NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) GRCh37: Chr19:18279602 GRCh38: Chr19:18168792	PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Benign (Jan 6, 2022)	criteria provided, single submitter
Select item 1597470100.	NM_005027.4(PIK3R2):c.598+20C>T GRCh37: Chr19:18272015 GRCh38: Chr19:18161205	LOC130063979, PIK3R2		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Likely benign (Apr 25, 2021)	criteria provided, single submitter

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