ClinVar for MedGen (Select 861164) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 282

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362503	NM_005027.4(PIK3R2):c.598+2T>G	LOC130063979, PIK3R2	Single nucleotide variant (splice donor variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely pathogenic
Select item 3065767	NM_005027.4(PIK3R2):c.1109+1G>A	PIK3R2	Single nucleotide variant (splice donor variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 3018790	NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 3014077	NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)	PIK3R2 (R16G)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 3010676	NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 3001908	NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)	PIK3R2 (M635V)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2999536	NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2973918	NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)	PIK3R2 (Q454R)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2966699	NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2958757	NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)	LOC130063979, PIK3R2	Duplication (inframe_insertion +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2910441	NM_005027.4(PIK3R2):c.2094C>T (p.His698=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2908704	NM_005027.4(PIK3R2):c.399G>A (p.Glu133=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2905234	NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2896494	NM_005027.4(PIK3R2):c.1808+11G>C	LOC130063980, PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2893745	NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2890394	NM_005027.4(PIK3R2):c.888G>A (p.Glu296=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2890142	NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2888148	NM_005027.4(PIK3R2):c.498C>T (p.Asp166=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2887225	NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2870003	NM_005027.4(PIK3R2):c.1416+14C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2863492	NM_005027.4(PIK3R2):c.1559+11C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2862040	NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)	PIK3R2 (R510Q)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2861838	NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)	PIK3R2 (S313A)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2852910	NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)	LOC130063979, PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2836756	NM_005027.4(PIK3R2):c.1980-16_1980-3del	PIK3R2	Deletion (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2834253	NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)	PIK3R2 (P725del)	Microsatellite (inframe_deletion +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2830177	NM_005027.4(PIK3R2):c.598+11C>T	LOC130063979, PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2829993	NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter)	PIK3R2 (Q494*)	Single nucleotide variant (nonsense +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2813971	NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)	LOC130063979, PIK3R2	Duplication (inframe_insertion +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2804929	NM_005027.4(PIK3R2):c.1109+7G>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2802727	NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2799840	NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)	PIK3R2 (A11S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2798375	NM_005027.4(PIK3R2):c.1110-3C>A	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2777881	NM_005027.4(PIK3R2):c.598+15T>C	LOC130063979, PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2776020	NM_005027.4(PIK3R2):c.2085C>T (p.His695=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2771824	NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)	PIK3R2 (E342D)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2769847	NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)	LOC130063979, PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2763171	NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)	PIK3R2 (G663E)	Indel (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2747339	NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)	LOC130063979, PIK3R2 (P260S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2746258	NM_005027.4(PIK3R2):c.1010+11G>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2741484	NM_005027.4(PIK3R2):c.924G>A (p.Lys308=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2739153	NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)	LOC130063979, PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2737997	NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)	LOC130063979, PIK3R2 (E189K)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2736787	NM_005027.4(PIK3R2):c.1809-6C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2730868	NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)	PIK3R2 (R35W)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2729697	NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)	PIK3R2 (R89H)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2720693	NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2719277	NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)	PIK3R2 (T167M)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2715313	NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)	PIK3R2 (T110R)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2699293	NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)	PIK3R2 (D334E)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2699052	NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2689753	NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)	PIK3R2 (G87fs)	Microsatellite (frameshift variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2664174	NM_014795.4(ZEB2):c.1858A>G (p.Ile620Val)	ZEB2 (I596V +1 more)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2634884	NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)	PIK3R2 (R652Q)	Single nucleotide variant (missense variant +1 more)	PIK3R2-related disorder +1 more	GUncertain significance
Select item 2561133	NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)	PIK3R2 (R94C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +2 more	GUncertain significance
Select item 2434861	NM_005027.4(PIK3R2):c.867G>A (p.Gln289=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2434860	NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala)	PIK3R2 (D113A)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2434859	NM_005027.4(PIK3R2):c.1883A>G (p.Asn628Ser)	PIK3R2 (N628S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2421974	NM_005027.4(PIK3R2):c.415+17C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2421211	NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2417964	NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2416642	NM_005027.4(PIK3R2):c.467-5C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2413390	NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)	LOC130063979, PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2387831	NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)	PIK3R2 (R508C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GUncertain significance
Select item 2196450	NM_005027.4(PIK3R2):c.942A>T (p.Thr314=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2183947	NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)	PIK3R2 (S551L)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2173703	NM_005027.4(PIK3R2):c.1317G>A (p.Val439=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2168754	NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)	PIK3R2 (R559H)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2165225	NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)	PIK3R2 (A718S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2160789	NM_005027.4(PIK3R2):c.1290+19G>A	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2160143	NM_005027.4(PIK3R2):c.1110-16C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2160074	NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2154485	NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2154028	NM_005027.4(PIK3R2):c.1290+12C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2152919	NM_005027.4(PIK3R2):c.1109+14C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2150904	NM_005027.4(PIK3R2):c.1291-11C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2147435	NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2146441	NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)	PIK3R2 (E293K)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2145052	NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)	LOC130063979, PIK3R2 (V232M)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2140323	NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GLikely benign
Select item 2138879	NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2138279	NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2137569	NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)	PIK3R2 (A40V)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2134412	NM_005027.4(PIK3R2):c.415+8C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2130237	NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2121936	NM_005027.4(PIK3R2):c.466+20G>C	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2115047	NM_005027.4(PIK3R2):c.598+12G>A	LOC130063979, PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2113810	NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)	PIK3R2 (G92C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2109735	NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg)	LOC130063980, PIK3R2 (K589R)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2101044	NM_005027.4(PIK3R2):c.816-9C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2096556	NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)	LOC130063979, PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2086146	NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)	PIK3R2 (S276N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2083171	NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)	PIK3R2 (R539C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2079247	NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)	PIK3R2 (V716L)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2077921	NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)	PIK3R2 (G663R)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2076432	NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)	LOC130063979, PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2072868	NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)	PIK3R2 (G87S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2070125	NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)	PIK3R2 (I335V)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GUncertain significance
Select item 2068072	NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign

<< First< Prev

Page of 3