ClinVar for MedGen (Select 863175) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247845	NC_000001.10:g.(?_243303219)_(243859038_?)dup	AKT3, CEP170 +1 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3236240	NM_005465.7(AKT3):c.998G>A (p.Gly333Glu)	AKT3 (G333E)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3007343	NM_005465.7(AKT3):c.627+7G>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 3004567	NM_005465.7(AKT3):c.47-4G>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2997089	NM_005465.7(AKT3):c.1215C>T (p.Phe405=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2977964	NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)	AKT3 (R220C)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2918378	NM_005465.7(AKT3):c.1258C>T (p.Pro420Ser)	AKT3 (P420S)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2914382	NM_005465.7(AKT3):c.46+18C>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2880071	NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)	AKT3 (T122S)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2865022	NM_005465.7(AKT3):c.949-18T>C	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2852981	NM_005465.7(AKT3):c.562-17C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2776264	NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)	AKT3 (P424L)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2757210	NM_005465.7(AKT3):c.628-9dup	AKT3	Duplication (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 2744418	NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)	AKT3 (T122P)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2740433	NM_005465.7(AKT3):c.948+9C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2716260	NM_005465.7(AKT3):c.345G>A (p.Glu115=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2712466	NM_005465.7(AKT3):c.540G>A (p.Lys180=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2438959	NM_005465.7(AKT3):c.887G>A (p.Gly296Glu)	AKT3 (G296E)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2425356	NC_000001.10:g.(?_243652296)_(243859038_?)del	AKT3, SDCCAG8	Deletion	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2197394	NM_005465.7(AKT3):c.430-19T>C	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2183902	NM_005465.7(AKT3):c.429+15C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2168164	NM_005465.7(AKT3):c.1252-20_1252-19del	AKT3	Microsatellite (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2123645	NM_005465.7(AKT3):c.404C>T (p.Ala135Val)	AKT3 (A135V)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2103681	NM_005465.7(AKT3):c.526A>G (p.Met176Val)	AKT3 (M176V)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2083338	NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)	AKT3 (S120N)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2058570	NM_005465.7(AKT3):c.548T>C (p.Val183Ala)	AKT3 (V183A)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 2050346	NM_005465.7(AKT3):c.933A>G (p.Glu311=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2050236	NM_005465.7(AKT3):c.1252-20C>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 2045891	NM_005465.7(AKT3):c.1251+15T>C	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1967099	NM_005465.7(AKT3):c.46+11C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1931971	NM_005465.7(AKT3):c.172+13T>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1674593	NM_005465.7(AKT3):c.46+12G>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1673900	NM_005465.7(AKT3):c.1164-7C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1670602	NM_005465.7(AKT3):c.564T>C (p.Asp188=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1664070	NM_005465.7(AKT3):c.47-10C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1658602	NM_005465.7(AKT3):c.1386T>C (p.Asn462=)	AKT3	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1650495	NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr)	AKT3 (P448T)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1637612	NM_005465.7(AKT3):c.1252-10C>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1629829	NM_005465.7(AKT3):c.306C>A (p.Ile102=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1624326	NM_005465.7(AKT3):c.562-6T>C	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1621799	NM_005465.7(AKT3):c.1050C>T (p.Asp350=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1612989	NM_005465.7(AKT3):c.47-18C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1612006	NM_005465.7(AKT3):c.1163+16C>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1609035	NM_005465.7(AKT3):c.430-17dup	AKT3	Duplication (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1579882	NM_005465.7(AKT3):c.996A>G (p.Leu332=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1577570	NM_005465.7(AKT3):c.948+9C>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1559906	NM_005465.7(AKT3):c.820-12C>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1559614	NM_005465.7(AKT3):c.729C>T (p.Phe243=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1557274	NM_005465.7(AKT3):c.172+19T>C	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1533526	NM_005465.7(AKT3):c.173-23_173-20del	AKT3	Deletion (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1531061	NM_005465.7(AKT3):c.1101A>C (p.Arg367=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1518305	NM_005465.7(AKT3):c.685A>C (p.Asn229His)	AKT3 (N229H)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely pathogenic
Select item 1505641	NM_005465.7(AKT3):c.409A>G (p.Thr137Ala)	AKT3 (T137A)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1498287	NM_005465.7(AKT3):c.410C>T (p.Thr137Ile)	AKT3 (T137I)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1487345	NM_005465.7(AKT3):c.1275A>G (p.Gln425=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1474549	NM_005465.7(AKT3):c.1251+5G>T	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1440421	NC_000001.10:g.(?_243663038)_(243668656_?)dup	AKT3, SDCCAG8	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1440227	NM_005465.7(AKT3):c.1202G>A (p.Arg401Lys)	AKT3 (R401K)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1408736	NM_005465.7(AKT3):c.417T>C (p.His139=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 1347707	NM_005465.7(AKT3):c.948+3A>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1342647	NM_005465.7(AKT3):c.47-52492A>G	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 1320279	NM_005465.7(AKT3):c.230T>A (p.Leu77His)	AKT3 (L77H)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely pathogenic
Select item 1320062	NM_005465.7(AKT3):c.538A>G (p.Lys180Glu)	AKT3 (K180E)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 1299320	NM_005465.7(AKT3):c.237G>C (p.Trp79Cys)	AKT3 (W79C)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely pathogenic
Select item 1296988	NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly)	AKT3 (E361G)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 1281311	NM_005465.7(AKT3):c.16A>G (p.Ile6Val)	AKT3 (I6V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1241032	NM_005465.7(AKT3):c.807C>T (p.Tyr269=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GBenign/Likely benign
Select item 1176534	NM_005465.7(AKT3):c.165A>G (p.Ser55=)	AKT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1167219	NM_005465.7(AKT3):c.1398G>A (p.Pro466=)	AKT3	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GBenign
Select item 1065925	NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr)	AKT3 (D322Y)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely pathogenic
Select item 1059810	NM_005465.7(AKT3):c.820-10T>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 995385	NM_005465.7(AKT3):c.963T>G (p.Asn321Lys)	AKT3 (N321K)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 964313	NM_005465.7(AKT3):c.682G>A (p.Val228Ile)	AKT3 (V228I)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 958474	NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu)	AKT3 (P466L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 955844	NM_005465.7(AKT3):c.238A>T (p.Thr80Ser)	AKT3 (T80S)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 931499	NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys)	AKT3 (Y414C)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 871333	NM_005465.7(AKT3):c.803T>C (p.Val268Ala)	AKT3 (V268A)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 846856	NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys)	AKT3 (Y251C)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GUncertain significance
Select item 807366	NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)	AKT3 (I444V)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 792270	NM_005465.7(AKT3):c.720G>A (p.Glu240=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 772787	NM_005465.7(AKT3):c.1359T>C (p.Asp453=)	AKT3	Single nucleotide variant (synonymous variant +1 more)	AKT3-related disorder +2 more	GBenign/Likely benign
Select item 772223	NM_005465.7(AKT3):c.792C>T (p.Ser264=)	AKT3	Single nucleotide variant (synonymous variant)	AKT3-related disorder +1 more	GBenign/Likely benign
Select item 756245	NM_005465.7(AKT3):c.284+10T>C	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 719789	NM_005465.7(AKT3):c.1104A>G (p.Thr368=)	AKT3	Single nucleotide variant (synonymous variant)	AKT3-related disorder +1 more	GLikely benign
Select item 709191	NM_005465.7(AKT3):c.1044C>T (p.Asn348=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GBenign
Select item 541984	NM_005465.7(AKT3):c.726G>A (p.Val242=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 513545	NM_005465.7(AKT3):c.1416C>G (p.Ser472=)	AKT3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 513433	NM_005465.7(AKT3):c.906C>T (p.Thr302=)	AKT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 513432	NM_005465.7(AKT3):c.882A>G (p.Lys294=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 507448	NM_005465.7(AKT3):c.285-13C>T	AKT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 489265	NM_005465.7(AKT3):c.820-10T>G	AKT3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 475214	NM_005465.7(AKT3):c.840C>T (p.Asp280=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely benign
Select item 475213	NM_005465.7(AKT3):c.224G>A (p.Arg75Lys)	AKT3 (R75K)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 475212	NM_005465.7(AKT3):c.1276G>C (p.Val426Leu)	AKT3 (V426L)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 387553	NM_005465.7(AKT3):c.273T>C (p.Thr91=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GLikely benign
Select item 386558	NM_005465.7(AKT3):c.820-18A>G	AKT3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 384482	NM_005465.7(AKT3):c.1163+17G>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GLikely benign
Select item 273671	NM_005465.7(AKT3):c.548T>A (p.Val183Asp)	AKT3 (V183D)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely pathogenic

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