341208[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 2260354	NM_001098672.2(HEPHL1):c.7C>T (p.Arg3Trp)	HEPHL1 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105305	NM_001098672.2(HEPHL1):c.44T>C (p.Phe15Ser)	HEPHL1 (F15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509855	NM_001098672.2(HEPHL1):c.100G>T (p.Val34Leu)	HEPHL1 (V34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105283	NM_001098672.2(HEPHL1):c.124C>T (p.Pro42Ser)	HEPHL1 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392588	NM_001098672.2(HEPHL1):c.204C>G (p.Asn68Lys)	HEPHL1 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105290	NM_001098672.2(HEPHL1):c.215G>A (p.Ser72Asn)	HEPHL1 (S72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469371	NM_001098672.2(HEPHL1):c.219T>G (p.Ile73Met)	HEPHL1 (I73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546076	NM_001098672.2(HEPHL1):c.228G>T (p.Lys76Asn)	HEPHL1 (K76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033145	NM_001098672.2(HEPHL1):c.241C>T (p.Arg81Cys)	HEPHL1 (R81C)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GLikely benign
Select item 3284027	NM_001098672.2(HEPHL1):c.242G>A (p.Arg81His)	HEPHL1 (R81H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2230543	NM_001098672.2(HEPHL1):c.257C>T (p.Thr86Ile)	HEPHL1 (T86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642290	NM_001098672.2(HEPHL1):c.285C>G (p.Pro95=)	HEPHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338472	NM_001098672.2(HEPHL1):c.287G>C (p.Trp96Ser)	HEPHL1 (W96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284029	NM_001098672.2(HEPHL1):c.299T>G (p.Leu100Arg)	HEPHL1 (L100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678388	NM_001098672.2(HEPHL1):c.364C>T (p.Arg122Ter)	HEPHL1 (R122*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2672481	NM_001098672.2(HEPHL1):c.391G>A (p.Val131Ile)	HEPHL1 (V131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3105304	NM_001098672.2(HEPHL1):c.443G>C (p.Gly148Ala)	HEPHL1 (G148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487958	NM_001098672.2(HEPHL1):c.518C>A (p.Ala173Glu)	HEPHL1 (A173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045219	NM_001098672.2(HEPHL1):c.524C>T (p.Thr175Ile)	HEPHL1 (T175I)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GLikely benign
Select item 2642291	NM_001098672.2(HEPHL1):c.573C>T (p.Asp191=)	HEPHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584877	NM_001098672.2(HEPHL1):c.641_644dup (p.Tyr215Ter)	HEPHL1 (Y215*)	Duplication (nonsense)	Pili torti-developmental delay-neurological abnormalities syndrome	GLikely pathogenic
Select item 3284040	NM_001098672.2(HEPHL1):c.661G>T (p.Asp221Tyr)	HEPHL1 (D221Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056170	NM_001098672.2(HEPHL1):c.671G>A (p.Arg224Gln)	HEPHL1 (R224Q)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GBenign
Select item 3105306	NM_001098672.2(HEPHL1):c.713G>C (p.Ser238Thr)	HEPHL1 (S238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527946	NM_001098672.2(HEPHL1):c.715T>C (p.Trp239Arg)	HEPHL1 (W239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285336	NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp)	HEPHL1 (N251D)	Single nucleotide variant (missense variant)	Pili torti-developmental delay-neurological abnormalities syndrome +1 more	GBenign
Select item 2642292	NM_001098672.2(HEPHL1):c.851T>C (p.Met284Thr)	HEPHL1 (M284T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3105307	NM_001098672.2(HEPHL1):c.852G>A (p.Met284Ile)	HEPHL1 (M284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272307	NM_001098672.2(HEPHL1):c.991C>T (p.Leu331Phe)	HEPHL1 (L331F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313547	NM_001098672.2(HEPHL1):c.997A>G (p.Thr333Ala)	HEPHL1 (T333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510339	NM_001098672.2(HEPHL1):c.1012G>A (p.Glu338Lys)	HEPHL1 (E338K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 635195	NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr)	HEPHL1 (A355T)	Single nucleotide variant (missense variant)	Pili torti-developmental delay-neurological abnormalities syndrome	GPathogenic
Select item 3057235	NM_001098672.2(HEPHL1):c.1122G>C (p.Lys374Asn)	HEPHL1 (K374N)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GBenign
Select item 3105279	NM_001098672.2(HEPHL1):c.1140G>T (p.Arg380Ser)	HEPHL1 (R380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105281	NM_001098672.2(HEPHL1):c.1142G>A (p.Arg381His)	HEPHL1 (R381H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553429	NM_001098672.2(HEPHL1):c.1168C>A (p.Leu390Ile)	HEPHL1 (L390I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284031	NM_001098672.2(HEPHL1):c.1189G>A (p.Gly397Ser)	HEPHL1 (G397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473689	NM_001098672.2(HEPHL1):c.1219A>C (p.Asn407His)	HEPHL1 (N407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295889	NM_001098672.2(HEPHL1):c.1221C>A (p.Asn407Lys)	HEPHL1 (N407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105282	NM_001098672.2(HEPHL1):c.1222G>A (p.Ala408Thr)	HEPHL1 (A408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285337	NM_001098672.2(HEPHL1):c.1232+9C>G	HEPHL1	Single nucleotide variant (intron variant)	Pili torti-developmental delay-neurological abnormalities syndrome +1 more	GBenign
Select item 3105284	NM_001098672.2(HEPHL1):c.1257A>C (p.Gln419His)	HEPHL1 (Q419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105285	NM_001098672.2(HEPHL1):c.1271T>C (p.Ile424Thr)	HEPHL1 (I424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105286	NM_001098672.2(HEPHL1):c.1283A>G (p.Tyr428Cys)	HEPHL1 (Y428C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037777	NM_001098672.2(HEPHL1):c.1295G>A (p.Arg432Gln)	HEPHL1 (R432Q)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GBenign
Select item 2333394	NM_001098672.2(HEPHL1):c.1303G>C (p.Glu435Gln)	HEPHL1 (E435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241148	NM_001098672.2(HEPHL1):c.1304A>G (p.Glu435Gly)	HEPHL1 (E435G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370454	NM_001098672.2(HEPHL1):c.1357C>T (p.His453Tyr)	HEPHL1 (H453Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105287	NM_001098672.2(HEPHL1):c.1396G>A (p.Gly466Ser)	HEPHL1 (G466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105288	NM_001098672.2(HEPHL1):c.1484A>T (p.Asp495Val)	HEPHL1 (D495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354970	NM_001098672.2(HEPHL1):c.1498C>G (p.Leu500Val)	HEPHL1 (L500V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1678290	NM_001098672.2(HEPHL1):c.1505-12_1511del	HEPHL1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2205927	NM_001098672.2(HEPHL1):c.1540G>A (p.Glu514Lys)	HEPHL1 (E514K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295948	NM_001098672.2(HEPHL1):c.1549A>G (p.Thr517Ala)	HEPHL1 (T517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526768	NM_001098672.2(HEPHL1):c.1576G>A (p.Val526Ile)	HEPHL1 (V526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701175	NM_001098672.2(HEPHL1):c.1808G>A (p.Trp603Ter)	HEPHL1 (W603*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2338865	NM_001098672.2(HEPHL1):c.1813C>T (p.Pro605Ser)	HEPHL1 (P605S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105289	NM_001098672.2(HEPHL1):c.1853C>T (p.Ser618Phe)	HEPHL1 (S618F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284037	NM_001098672.2(HEPHL1):c.1898C>G (p.Pro633Arg)	HEPHL1 (P633R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488152	NM_001098672.2(HEPHL1):c.1968G>A (p.Met656Ile)	HEPHL1 (M656I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225353	NM_001098672.2(HEPHL1):c.1976T>C (p.Ile659Thr)	HEPHL1 (I659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284035	NM_001098672.2(HEPHL1):c.2018G>A (p.Arg673Gln)	HEPHL1 (R673Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263734	NM_001098672.2(HEPHL1):c.2023T>C (p.Ser675Pro)	HEPHL1 (S675P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051900	NM_001098672.2(HEPHL1):c.2043C>T (p.His681=)	HEPHL1	Single nucleotide variant (synonymous variant)	HEPHL1-related disorder	GLikely benign
Select item 2478164	NM_001098672.2(HEPHL1):c.2044A>G (p.Met682Val)	HEPHL1 (M682V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3038931	NM_001098672.2(HEPHL1):c.2109G>T (p.Met703Ile)	HEPHL1 (M703I)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GLikely benign
Select item 2240883	NM_001098672.2(HEPHL1):c.2114A>G (p.His705Arg)	HEPHL1 (H705R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522149	NM_001098672.2(HEPHL1):c.2140T>C (p.Tyr714His)	HEPHL1 (Y714H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398735	NM_001098672.2(HEPHL1):c.2206T>C (p.Tyr736His)	HEPHL1 (Y736H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337556	NM_001098672.2(HEPHL1):c.2210T>A (p.Ile737Asn)	HEPHL1 (I737N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462389	NM_001098672.2(HEPHL1):c.2225T>C (p.Val742Ala)	HEPHL1 (V742A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284038	NM_001098672.2(HEPHL1):c.2245A>C (p.Asn749His)	HEPHL1 (N749H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364160	NM_001098672.2(HEPHL1):c.2262C>G (p.Phe754Leu)	HEPHL1 (F754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708536	NM_001098672.2(HEPHL1):c.2262C>T (p.Phe754=)	HEPHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3105291	NM_001098672.2(HEPHL1):c.2281G>T (p.Ala761Ser)	HEPHL1 (A761S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402070	NM_001098672.2(HEPHL1):c.2317C>T (p.Arg773Cys)	HEPHL1 (R773C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591471	NM_001098672.2(HEPHL1):c.2321C>T (p.Thr774Ile)	HEPHL1 (T774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105292	NM_001098672.2(HEPHL1):c.2327A>G (p.Asn776Ser)	HEPHL1 (N776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105293	NM_001098672.2(HEPHL1):c.2357T>C (p.Val786Ala)	HEPHL1 (V786A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105294	NM_001098672.2(HEPHL1):c.2411G>T (p.Arg804Leu)	HEPHL1 (R804L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509656	NM_001098672.2(HEPHL1):c.2427A>T (p.Glu809Asp)	HEPHL1 (E809D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321571	NM_001098672.2(HEPHL1):c.2467G>A (p.Val823Ile)	HEPHL1 (V823I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216338	NM_001098672.2(HEPHL1):c.2564T>A (p.Met855Lys)	HEPHL1 (M855K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642293	NM_001098672.2(HEPHL1):c.2607T>C (p.Pro869=)	HEPHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284034	NM_001098672.2(HEPHL1):c.2615C>A (p.Ser872Tyr)	HEPHL1 (S872Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105296	NM_001098672.2(HEPHL1):c.2638A>G (p.Asn880Asp)	HEPHL1 (N880D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284030	NM_001098672.2(HEPHL1):c.2723G>T (p.Arg908Leu)	HEPHL1 (R908L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038568	NM_001098672.2(HEPHL1):c.2760C>A (p.Asp920Glu)	HEPHL1 (D920E)	Single nucleotide variant (missense variant)	HEPHL1-related disorder	GBenign
Select item 3284033	NM_001098672.2(HEPHL1):c.2762T>C (p.Val921Ala)	HEPHL1 (V921A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599241	NM_001098672.2(HEPHL1):c.2816A>G (p.Tyr939Cys)	HEPHL1 (Y939C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284036	NM_001098672.2(HEPHL1):c.2838G>T (p.Lys946Asn)	HEPHL1 (K946N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992359	NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter)	HEPHL1 (R953*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2331044	NM_001098672.2(HEPHL1):c.2889A>T (p.Glu963Asp)	HEPHL1 (E963D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992355	NM_001098672.2(HEPHL1):c.2968A>C (p.Asn990His)	HEPHL1 (N990H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1678291	NM_001098672.2(HEPHL1):c.2993G>A (p.Ser998Asn)	HEPHL1 (S998N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532059	NM_001098672.2(HEPHL1):c.3043A>G (p.Lys1015Glu)	HEPHL1 (K1015E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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