25977[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 150653	GRCh38/hg38 12p13.31(chr12:7850905-8455624)x1	C3AR1, CLEC4A +39 more	Copy number loss	See cases	GLikely benign
Select item 1951875	NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser)	LOC126861440, NECAP1 (T3S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 541850	NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys)	NECAP1, LOC126861440 (E4K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1389574	NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly)	LOC126861440, NECAP1 (E4G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2124708	NM_015509.4(NECAP1):c.12G>A (p.Glu4=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1147952	NM_015509.4(NECAP1):c.13T>C (p.Leu5=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1105118	NM_015509.4(NECAP1):c.18G>A (p.Glu6=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2051633	NM_015509.4(NECAP1):c.21C>T (p.Tyr7=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2049234	NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys)	LOC126861440, NECAP1 (S9C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2021757	NM_015509.4(NECAP1):c.30G>A (p.Val10=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2431545	NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)	LOC126861440, NECAP1 (K14*)	Microsatellite (nonsense +1 more)	Developmental and epileptic encephalopathy, 21	GLikely pathogenic
Select item 1540244	NM_015509.4(NECAP1):c.39G>T (p.Val13=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2064339	NM_015509.4(NECAP1):c.51C>T (p.Val17=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 575282	NM_015509.4(NECAP1):c.56T>C (p.Val19Ala)	LOC126861440, NECAP1 (V19A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1477643	NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu)	LOC126861440, NECAP1 (P23L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 783103	NM_015509.4(NECAP1):c.69G>A (p.Pro23=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1475023	NM_015509.4(NECAP1):c.77C>T (p.Ala26Val)	LOC126861440, NECAP1 (A26V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2165678	NM_015509.4(NECAP1):c.81C>T (p.Ser27=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1024154	NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile)	LOC126861440, NECAP1 (N28I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2642683	NM_015509.4(NECAP1):c.84C>T (p.Asn28=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2112496	NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg)	LOC126861440, NECAP1 (G30R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 975913	NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser)	LOC126861440, NECAP1 (G30S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1663057	NM_015509.4(NECAP1):c.93C>T (p.Tyr31=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2162382	NM_015509.4(NECAP1):c.95+3A>T	LOC126861440, NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1955215	NM_015509.4(NECAP1):c.95+4C>T	LOC126861440, NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 766717	NM_015509.4(NECAP1):c.95+9C>T	LOC126861440, NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2115616	NM_015509.4(NECAP1):c.95+10C>G	LOC126861440, NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1623074	NM_015509.4(NECAP1):c.95+11C>T	LOC126861440, NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1368848	NM_015509.4(NECAP1):c.95+16C>T	LOC126861440, NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2978637	NM_015509.4(NECAP1):c.96-15C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 806826	NM_015509.4(NECAP1):c.96-4C>T	NECAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1497444	NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr)	NECAP1 (S34T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 771258	NM_015509.4(NECAP1):c.114A>G (p.Leu38=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2083583	NM_015509.4(NECAP1):c.117C>T (p.Asp39=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1610532	NM_015509.4(NECAP1):c.126T>C (p.Asp42=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1372367	NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn)	NECAP1 (T44N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 541849	NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala)	NECAP1 (G45A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1026219	NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys)	NECAP1 (R46C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1438864	NM_015509.4(NECAP1):c.137G>A (p.Arg46His)	NECAP1 (R46H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 133341	NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)	NECAP1 (R48*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 21	GPathogenic/Likely pathogenic
Select item 1397921	NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr)	NECAP1 (K54T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1469678	NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe)	NECAP1 (L60F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1123612	NM_015509.4(NECAP1):c.180C>T (p.Leu60=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1439007	NM_015509.4(NECAP1):c.195A>G (p.Ser65=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1620692	NM_015509.4(NECAP1):c.196+11C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1543537	NM_015509.4(NECAP1):c.196+12G>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1377675	NM_015509.4(NECAP1):c.196+12G>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1580176	NM_015509.4(NECAP1):c.196+19C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1558989	NM_015509.4(NECAP1):c.196+20C>G	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2048014	NM_015509.4(NECAP1):c.197-19T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1948891	NM_015509.4(NECAP1):c.197-16T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1530582	NM_015509.4(NECAP1):c.197-12C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1635057	NM_015509.4(NECAP1):c.197-8T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1949903	NM_015509.4(NECAP1):c.197-5G>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2474878	NM_015509.4(NECAP1):c.205T>C (p.Phe69Leu)	NECAP1 (F69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2839719	NM_015509.4(NECAP1):c.210T>C (p.Ala70=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 848573	NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser)	NECAP1 (A72S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1505667	NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser)	NECAP1 (P73S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1996409	NM_015509.4(NECAP1):c.228A>G (p.Gln76=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2135629	NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)	NECAP1 (G79D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2195352	NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)	NECAP1 (A81S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1026898	NM_015509.4(NECAP1):c.244G>A (p.Val82Met)	NECAP1 (V82M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 475005	NM_015509.4(NECAP1):c.251C>T (p.Thr84Met)	NECAP1 (T84M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 541853	NM_015509.4(NECAP1):c.252G>A (p.Thr84=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1994553	NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)	NECAP1 (D87fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 21	GPathogenic
Select item 475006	NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys)	NECAP1 (R90C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2691316	NM_015509.4(NECAP1):c.291G>T (p.Gln97His)	NECAP1 (Q97H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929499	NM_015509.4(NECAP1):c.301+1G>A	NECAP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 21	GPathogenic
Select item 2138168	NM_015509.4(NECAP1):c.301+13G>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1594677	NM_015509.4(NECAP1):c.301+14G>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1570885	NM_015509.4(NECAP1):c.301+15A>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1643111	NM_015509.4(NECAP1):c.302-13A>G	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2162832	NM_015509.4(NECAP1):c.302-12C>G	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1628308	NM_015509.4(NECAP1):c.302-11G>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1591741	NM_015509.4(NECAP1):c.302-11G>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1929594	NM_015509.4(NECAP1):c.302-5C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1020404	NM_015509.4(NECAP1):c.305G>A (p.Arg102His)	NECAP1 (R102H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21 +1 more	GUncertain significance
Select item 1112309	NM_015509.4(NECAP1):c.315C>T (p.Phe105=)	NECAP1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1498918	NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala)	NECAP1 (T111A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2192283	NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)	NECAP1 (R113W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2159910	NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)	NECAP1 (R113Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1492731	NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser)	NECAP1 (A116S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2782067	NM_015509.4(NECAP1):c.351C>T (p.Phe117=)	NECAP1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 935636	NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn)	NECAP1 (D118N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 21 +1 more	GUncertain significance
Select item 1604821	NM_015509.4(NECAP1):c.372G>A (p.Gln124=)	NECAP1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1511172	NM_015509.4(NECAP1):c.376C>T (p.His126Tyr)	NECAP1 (H126Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 541852	NM_015509.4(NECAP1):c.383+3G>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1591356	NM_015509.4(NECAP1):c.383+11dup	NECAP1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1141708	NM_015509.4(NECAP1):c.383+10G>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign

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