CEMIP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 2465195	NM_001293298.2(CEMIP):c.31T>C (p.Phe11Leu)	CEMIP (F11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252969	NM_001293298.2(CEMIP):c.76C>T (p.Pro26Ser)	CEMIP (P26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461295	NM_001293298.2(CEMIP):c.80G>A (p.Gly27Glu)	CEMIP (G27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589795	NM_001293298.2(CEMIP):c.91A>G (p.Thr31Ala)	CEMIP (T31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236945	NM_001293298.2(CEMIP):c.94+78G>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270884	NM_001293298.2(CEMIP):c.94+168G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281219	NM_001293298.2(CEMIP):c.95-131G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2377437	NM_001293298.2(CEMIP):c.98C>T (p.Ala33Val)	CEMIP (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039938	NM_001293298.2(CEMIP):c.241+8A>G	CEMIP	Single nucleotide variant (intron variant)	CEMIP-related condition	GLikely benign
Select item 1268997	NM_001293298.2(CEMIP):c.242-267G>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274620	NM_001293298.2(CEMIP):c.242-144A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994856	NM_001293298.2(CEMIP):c.242-9C>T	CEMIP	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 585660	NM_001293298.2(CEMIP):c.249G>A (p.Leu83=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition +1 more	GBenign
Select item 3050089	NM_001293298.2(CEMIP):c.321G>A (p.Leu107=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition	GLikely benign
Select item 1286337	NM_001293298.2(CEMIP):c.381-273A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244735	NM_001293298.2(CEMIP):c.381-263C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2538875	NM_001293298.2(CEMIP):c.409T>C (p.Tyr137His)	CEMIP (Y137H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476782	NM_001293298.2(CEMIP):c.431G>C (p.Gly144Ala)	CEMIP (G144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804687	NM_001293298.2(CEMIP):c.449C>T (p.Ala150Val)	CEMIP (A150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770434	NM_001293298.2(CEMIP):c.474G>A (p.Lys158=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291634	NM_001293298.2(CEMIP):c.505C>T (p.His169Tyr)	CEMIP (H169Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058816	NM_001293298.2(CEMIP):c.582C>T (p.Ile194=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition	GLikely benign
Select item 2522476	NM_001293298.2(CEMIP):c.583G>A (p.Asp195Asn)	CEMIP (D195N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287959	NM_001293298.2(CEMIP):c.604A>C (p.Ile202Leu)	CEMIP (I202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807073	NM_001293298.2(CEMIP):c.617G>A (p.Arg206Gln)	CEMIP (R206Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994858	NM_001293298.2(CEMIP):c.645G>C (p.Glu215Asp)	CEMIP (E215D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2597973	NM_001293298.2(CEMIP):c.674C>T (p.Ala225Val)	CEMIP (A225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1243666	NM_001293298.2(CEMIP):c.797+26C>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263938	NM_001293298.2(CEMIP):c.798-159G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256956	NM_001293298.2(CEMIP):c.798-109G>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244515	NM_001293298.2(CEMIP):c.798-87C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 804688	NM_001293298.2(CEMIP):c.832C>T (p.Pro278Ser)	CEMIP (P278S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1248787	NM_001293298.2(CEMIP):c.869-61G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756793	NM_001293298.2(CEMIP):c.869-5G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645629	NM_001293298.2(CEMIP):c.870A>G (p.Gly290=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361747	NM_001293298.2(CEMIP):c.893G>A (p.Arg298Gln)	CEMIP (R298Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645630	NM_001293298.2(CEMIP):c.911A>G (p.Gln304Arg)	CEMIP (Q304R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550322	NM_001293298.2(CEMIP):c.923G>A (p.Gly308Asp)	CEMIP (G308D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513797	NM_001293298.2(CEMIP):c.935A>G (p.Asn312Ser)	CEMIP (N312S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734680	NM_001293298.2(CEMIP):c.951T>C (p.Ser317=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1261718	NM_001293298.2(CEMIP):c.964+256C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724641	NM_001293298.2(CEMIP):c.967G>A (p.Val323Met)	CEMIP (V323M)	Single nucleotide variant (missense variant)	CEMIP-related condition +1 more	GBenign/Likely benign
Select item 2244513	NM_001293298.2(CEMIP):c.968T>G (p.Val323Gly)	CEMIP (V323G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1261494	NM_001293298.2(CEMIP):c.1086+82T>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245636	NM_001293298.2(CEMIP):c.1087-239G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2401600	NM_001293298.2(CEMIP):c.1120G>A (p.Glu374Lys)	CEMIP (E374K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410166	NM_001293298.2(CEMIP):c.1168C>T (p.Arg390Trp)	CEMIP (R390W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223052	NM_001293298.2(CEMIP):c.1169G>A (p.Arg390Gln)	CEMIP (R390Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381868	NM_001293298.2(CEMIP):c.1184G>A (p.Arg395Gln)	CEMIP (R395Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390584	NM_001293298.2(CEMIP):c.1199G>A (p.Arg400Gln)	CEMIP (R400Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774499	NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val)	CEMIP (L411V)	Single nucleotide variant (missense variant)	CEMIP-related condition +1 more	GBenign/Likely benign
Select item 2461119	NM_001293298.2(CEMIP):c.1253A>G (p.Asn418Ser)	CEMIP (N418S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520204	NM_001293298.2(CEMIP):c.1289T>C (p.Val430Ala)	CEMIP (V430A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048803	NM_001293298.2(CEMIP):c.1387G>A (p.Ala463Thr)	CEMIP (A463T)	Single nucleotide variant (missense variant)	CEMIP-related condition	GLikely benign
Select item 1258084	NM_001293298.2(CEMIP):c.1412-76G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3050640	NM_001293298.2(CEMIP):c.1434C>T (p.Ile478=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition	GLikely benign
Select item 2338860	NM_001293298.2(CEMIP):c.1435G>A (p.Gly479Arg)	CEMIP (G479R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1289446	NM_001293298.2(CEMIP):c.1587+57A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265369	NM_001293298.2(CEMIP):c.1587+79G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232009	NM_001293298.2(CEMIP):c.1587+182del	CEMIP	Deletion (intron variant)	not provided	GBenign
Select item 2325367	NM_001293298.2(CEMIP):c.1662G>C (p.Gln554His)	CEMIP (Q554H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046778	NM_001293298.2(CEMIP):c.1668G>A (p.Pro556=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition	GLikely benign
Select item 2317534	NM_001293298.2(CEMIP):c.1762C>T (p.Arg588Cys)	CEMIP (R588C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246734	NM_001293298.2(CEMIP):c.1797+102T>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243830	NM_001293298.2(CEMIP):c.1798-267del	CEMIP	Deletion (intron variant)	not provided	GBenign
Select item 2278408	NM_001293298.2(CEMIP):c.1810G>A (p.Val604Met)	CEMIP (V604M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368882	NM_001293298.2(CEMIP):c.1876G>T (p.Asp626Tyr)	CEMIP (D626Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246244	NM_001293298.2(CEMIP):c.1884T>C (p.Cys628=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition +1 more	GBenign
Select item 2487279	NM_001293298.2(CEMIP):c.1933A>G (p.Ser645Gly)	CEMIP (S645G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1286475	NM_001293298.2(CEMIP):c.1971G>A (p.Pro657=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition +1 more	GBenign
Select item 2398798	NM_001293298.2(CEMIP):c.2041A>C (p.Asn681His)	CEMIP (N681H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1275594	NM_001293298.2(CEMIP):c.2074-72G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048312	NM_001293298.2(CEMIP):c.2121C>T (p.Ser707=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition	GLikely benign
Select item 711159	NM_001293298.2(CEMIP):c.2133C>T (p.Tyr711=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283512	NM_001293298.2(CEMIP):c.2202+133A>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181132	NM_001293298.2(CEMIP):c.2203-143G>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2645631	NM_001293298.2(CEMIP):c.2238C>A (p.Thr746=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776938	NM_001293298.2(CEMIP):c.2265G>A (p.Pro755=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2496141	NM_001293298.2(CEMIP):c.2282C>T (p.Ser761Phe)	CEMIP (S761F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1263880	NM_001293298.2(CEMIP):c.2289-117C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2340367	NM_001293298.2(CEMIP):c.2311G>A (p.Asp771Asn)	CEMIP (D771N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570422	NM_001293298.2(CEMIP):c.2315C>T (p.Pro772Leu)	CEMIP (P772L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339391	NM_001293298.2(CEMIP):c.2347C>A (p.His783Asn)	CEMIP (H783N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804683	NM_001293298.2(CEMIP):c.2348A>G (p.His783Arg)	CEMIP (H783R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2341076	NM_001293298.2(CEMIP):c.2389C>T (p.Arg797Cys)	CEMIP (R797C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254564	NM_001293298.2(CEMIP):c.2420+195A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270971	NM_001293298.2(CEMIP):c.2420+210T>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2610549	NM_001293298.2(CEMIP):c.2465C>T (p.Thr822Ile)	CEMIP, LOC126862194 (T822I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714557	NM_001293298.2(CEMIP):c.2520C>T (p.Gly840=)	CEMIP, LOC126862194	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2617541	NM_001293298.2(CEMIP):c.2533G>A (p.Val845Met)	CEMIP, LOC126862194 (V845M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585661	NM_001293298.2(CEMIP):c.2589C>T (p.Ser863=)	CEMIP, LOC126862194	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2373636	NM_001293298.2(CEMIP):c.2590G>A (p.Gly864Arg)	CEMIP, LOC126862194 (G864R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804684	NM_001293298.2(CEMIP):c.2609G>A (p.Gly870Asp)	CEMIP, LOC126862194 (G870D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232480	NM_001293298.2(CEMIP):c.2612+256T>C	CEMIP, LOC126862194	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2349414	NM_001293298.2(CEMIP):c.2726G>A (p.Arg909His)	CEMIP (R909H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056179	NM_001293298.2(CEMIP):c.2787C>T (p.Asp929=)	CEMIP	Single nucleotide variant (synonymous variant)	CEMIP-related condition	GBenign
Select item 2344040	NM_001293298.2(CEMIP):c.2788G>A (p.Val930Ile)	CEMIP (V930I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278727	NM_001293298.2(CEMIP):c.2792C>T (p.Pro931Leu)	CEMIP (P931L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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