207[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 798

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	LOC130056511, LOC130056512 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	LOC126862061, LOC126862062 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	PPP2R5C, RCOR1 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	ADSS1, AHNAK2 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LOC130056610, LOC130056611 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	IGHV3-38, IGHV3-43 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	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 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	C14orf180, CDC42BPB +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	BTBD6, C14orf180 +304 more	Copy number gain	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 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 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 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 2644620	NM_001382430.1(AKT1):c.*6C>T	AKT1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1009874	NM_001382430.1(AKT1):c.1440C>G (p.Ala480=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GUncertain significance
Select item 1549857	NM_001382430.1(AKT1):c.1437G>T (p.Thr479=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 1126278	NM_001382430.1(AKT1):c.1437G>A (p.Thr479=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 1006787	NM_001382430.1(AKT1):c.1436C>T (p.Thr479Met)	AKT1 (T479M)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 575013	NM_001382430.1(AKT1):c.1432G>A (p.Gly478Ser)	AKT1 (G478S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 240110	NM_001382430.1(AKT1):c.1431C>T (p.Ser477=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1772418	NM_001382430.1(AKT1):c.1428C>T (p.Ala476=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1772362	NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)	AKT1	Single nucleotide variant (synonymous variant)	AKT1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2587639	NM_001382430.1(AKT1):c.1422C>T (p.Tyr474=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1153354	NM_001382430.1(AKT1):c.1419C>G (p.Ser473=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 699745	NM_001382430.1(AKT1):c.1416C>T (p.Phe472=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +2 more	GLikely benign
Select item 2811135	NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser)	AKT1 (P467S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2123387	NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys)	AKT1 (R466K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2587638	NM_001382430.1(AKT1):c.1396A>G (p.Arg466Gly)	AKT1 (R466G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1975172	NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 220815	NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)	AKT1 (R465H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1018655	NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys)	AKT1 (R465C)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 584874	NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys)	AKT1 (E464K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 240109	NM_001382430.1(AKT1):c.1389C>T (p.Ser463=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GBenign
Select item 2453716	NM_001382430.1(AKT1):c.1388G>T (p.Ser463Ile)	AKT1 (S463I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771429	NM_001382430.1(AKT1):c.1387A>G (p.Ser463Gly)	AKT1 (S463G)	Single nucleotide variant (missense variant)	Cowden syndrome 6 +1 more	GUncertain significance
Select item 1771408	NM_001382430.1(AKT1):c.1386C>T (p.Asp462=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1570477	NM_001382430.1(AKT1):c.1383G>A (p.Val461=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 240108	NM_001382430.1(AKT1):c.1380T>C (p.Cys460=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 2567947	NM_001382430.1(AKT1):c.1379G>T (p.Cys460Phe)	AKT1 (C460F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453705	NM_001382430.1(AKT1):c.1377G>A (p.Glu459=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2039863	NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys)	AKT1 (M458K)	Single nucleotide variant (missense variant)	Cowden syndrome 6 +1 more	GUncertain significance
Select item 133454	NM_001382430.1(AKT1):c.1373T>C (p.Met458Thr)	AKT1 (M458T)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1040994	NM_001382430.1(AKT1):c.1372A>G (p.Met458Val)	AKT1 (M458V)	Single nucleotide variant (missense variant)	Cowden syndrome 6 +1 more	GUncertain significance
Select item 1770941	NM_001382430.1(AKT1):c.1366G>A (p.Asp456Asn)	AKT1 (D456N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686412	NM_001382430.1(AKT1):c.1364-3C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 2178099	NM_001382430.1(AKT1):c.1364-9C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2060517	NM_001382430.1(AKT1):c.1364-10A>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 696737	NM_001382430.1(AKT1):c.1364-10A>G	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 2087446	NM_001382430.1(AKT1):c.1364-11T>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 1599653	NM_001382430.1(AKT1):c.1364-11del	AKT1	Deletion (intron variant)	Cowden syndrome 6	GBenign
Select item 1247026	NM_001382430.1(AKT1):c.1363+52_1363+55del	AKT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1600702	NM_001382430.1(AKT1):c.1363+12C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GBenign
Select item 702764	NM_001382430.1(AKT1):c.1363+9C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 540891	NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg)	AKT1 (Q454R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1770829	NM_001382430.1(AKT1):c.1360C>G (p.Gln454Glu)	AKT1 (Q454E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2725335	NM_001382430.1(AKT1):c.1357G>C (p.Asp453His)	AKT1 (D453H)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2587633	NM_001382430.1(AKT1):c.1353A>G (p.Pro451=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1770612	NM_001382430.1(AKT1):c.1351C>G (p.Pro451Ala)	AKT1 (P451A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031512	NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser)	AKT1 (P451S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2496648	NM_001382430.1(AKT1):c.1350A>C (p.Thr450=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2771149	NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe)	AKT1 (I449F)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1770425	NM_001382430.1(AKT1):c.1344C>T (p.Thr448=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 416467	NM_001382430.1(AKT1):c.1341C>A (p.Ile447=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 1362051	NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile)	AKT1 (M446I)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 240107	NM_001382430.1(AKT1):c.1329G>A (p.Thr443=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2188658	NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 1769930	NM_001382430.1(AKT1):c.1322A>G (p.Glu441Gly)	AKT1 (E441G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703437	NM_001382430.1(AKT1):c.1321_1322delinsTT (p.Glu441Leu)	AKT1 (E441L)	Indel (missense variant)	not provided	GUncertain significance
Select item 473852	NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp)	AKT1 (E440D)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2814661	NM_001382430.1(AKT1):c.1318G>A (p.Glu440Lys)	AKT1 (E440K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1769682	NM_001382430.1(AKT1):c.1311T>C (p.Tyr437=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 2736828	NM_001382430.1(AKT1):c.1305C>T (p.Thr435=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 40163	NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro)	AKT1 (T435P)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GPathogenic
Select item 2453711	NM_001382430.1(AKT1):c.1299T>G (p.Thr433=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769295	NM_001382430.1(AKT1):c.1299T>C (p.Thr433=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769265	NM_001382430.1(AKT1):c.1298C>A (p.Thr433Asn)	AKT1 (T433N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 540908	NM_001382430.1(AKT1):c.1293G>A (p.Ser431=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1769135	NM_001382430.1(AKT1):c.1292C>T (p.Ser431Leu)	AKT1 (S431L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 540895	NM_001382430.1(AKT1):c.1290G>A (p.Thr430=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 853634	NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met)	AKT1 (T430M)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1768696	NM_001382430.1(AKT1):c.1284G>A (p.Gln428=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 1768078	NM_001382430.1(AKT1):c.1281C>T (p.Pro427=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 758409	NM_001382430.1(AKT1):c.1278G>A (p.Lys426=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 1016933	NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr)	AKT1 (K426T)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance

<< First< Prev

Page of 8