"GeneDx"[submitter] AND "AKT1"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 58348	GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3	ADSS1, AKT1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2504741	NM_001382430.1(AKT1):c.1420T>C (p.Tyr474His)	AKT1 (Y474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247026	NM_001382430.1(AKT1):c.1363+52_1363+55del	AKT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1703437	NM_001382430.1(AKT1):c.1321_1322delinsTT (p.Glu441Leu)	AKT1 (E441L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1189582	NM_001382430.1(AKT1):c.1261-196C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286758	NM_001382430.1(AKT1):c.1261-217T>C	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207299	NM_001382430.1(AKT1):c.1260+190C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290766	NM_001382430.1(AKT1):c.1260+106_1260+110del	AKT1	Deletion (intron variant)	not provided	GBenign
Select item 1237020	NM_001382430.1(AKT1):c.1260+98G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220388	NM_001382430.1(AKT1):c.1260+93C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229300	NM_001382430.1(AKT1):c.1260+66C>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270593	NM_001382430.1(AKT1):c.1260+32G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 221141	NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)	AKT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 240103	NM_001382430.1(AKT1):c.1179C>T (p.Gly393=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1280802	NM_001382430.1(AKT1):c.1173-31C>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320697	NM_001382430.1(AKT1):c.1173-89C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235192	NM_001382430.1(AKT1):c.1173-165G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202658	NM_001382430.1(AKT1):c.1172+207C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201071	NM_001382430.1(AKT1):c.1172+71G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281623	NM_001382430.1(AKT1):c.1172+69G>C	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235718	NM_001382430.1(AKT1):c.1172+23A>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702594	NM_001382430.1(AKT1):c.1154A>G (p.Lys385Arg)	AKT1 (K385R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802059	NM_001382430.1(AKT1):c.1100G>A (p.Arg367His)	AKT1 (R367H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514683	NM_001382430.1(AKT1):c.957+3G>A	AKT1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2581879	NM_001382430.1(AKT1):c.950C>T (p.Ala317Val)	AKT1 (A317V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498670	NM_001382430.1(AKT1):c.726G>A (p.Glu242=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +2 more	GBenign
Select item 1208657	NM_001382430.1(AKT1):c.703-125G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247143	NM_001382430.1(AKT1):c.702+138C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707141	NM_001382430.1(AKT1):c.702+102G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270391	NM_001382430.1(AKT1):c.702+33C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429711	NM_001382430.1(AKT1):c.634-1G>A	AKT1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1288599	NM_001382430.1(AKT1):c.634-133G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178734	NM_001382430.1(AKT1):c.634-213A>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 416469	NM_001382430.1(AKT1):c.604C>T (p.Leu202=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GBenign
Select item 2662728	NM_001382430.1(AKT1):c.596A>C (p.Asn199Thr)	AKT1 (N199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282532	NM_001382430.1(AKT1):c.567+35G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187314	NM_001382430.1(AKT1):c.567+14G>A	AKT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 416470	NM_001382430.1(AKT1):c.558C>T (p.Ile186=)	AKT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1261565	NM_001382430.1(AKT1):c.436-32C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221497	NM_001382430.1(AKT1):c.436-63C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252342	NM_001382430.1(AKT1):c.361del (p.Arg121fs)	AKT1 (R121fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1286091	NM_001382430.1(AKT1):c.288-92A>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203922	NM_001382430.1(AKT1):c.288-121G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274406	NM_001382430.1(AKT1):c.288-238C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232426	NM_001382430.1(AKT1):c.288-281_288-265del	AKT1	Deletion (intron variant)	not provided	GBenign
Select item 1286861	NM_001382430.1(AKT1):c.288-305_288-269del	AKT1	Deletion (intron variant)	not provided	GBenign
Select item 1264691	NM_001382430.1(AKT1):c.288-309_288-270del	AKT1	Deletion (intron variant)	not provided	GBenign
Select item 1258466	NM_001382430.1(AKT1):c.288-273T>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281566	NM_001382430.1(AKT1):c.288-289dup	AKT1	Duplication (intron variant)	not provided	GBenign
Select item 1223783	NM_001382430.1(AKT1):c.288-321C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270243	NM_001382430.1(AKT1):c.287+170G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221534	NM_001382430.1(AKT1):c.287+170G>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267356	NM_001382430.1(AKT1):c.287+165G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272355	NM_001382430.1(AKT1):c.287+30A>G	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373773	NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg)	AKT1 (Q79R)	Single nucleotide variant (missense variant)	Cowden syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 1264628	NM_001382430.1(AKT1):c.176-113C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213011	NM_001382430.1(AKT1):c.176-245C>A	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214756	NM_001382430.1(AKT1):c.176-261G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268436	NM_001382430.1(AKT1):c.176-328C>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695299	NM_001382430.1(AKT1):c.175+100A>T	AKT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 133455	NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)	AKT1 (D46E)	Single nucleotide variant (missense variant)	Cowden syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 13983	NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	AKT1 (E17K)	Single nucleotide variant (missense variant)	Proteus syndrome +3 more	GPathogenic OOncogenic
Select item 1174307	NM_001382430.1(AKT1):c.47-76C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262120	NM_001382430.1(AKT1):c.47-128C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281679	NM_001382430.1(AKT1):c.47-133C>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232529	NM_001382430.1(AKT1):c.47-139A>T	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213239	NM_001382430.1(AKT1):c.47-319T>C	AKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182199	NM_001382430.1(AKT1):c.46+43G>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238585	NM_001382430.1(AKT1):c.46+42T>C	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207622	NM_001382430.1(AKT1):c.-45C>G	AKT1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 253728	GRCh37/hg19 14q32.33(chr14:105259639-105523673)x1	CDCA4, ZBTB42 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 75