ClinVar for Gene (Select 25977) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255290	NM_015509.4(NECAP1):c.779+68T>C	NECAP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255285	NM_015509.4(NECAP1):c.384-33C>G	NECAP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3016890	NM_015509.4(NECAP1):c.780-12_780-10del	NECAP1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2982174	NM_015509.4(NECAP1):c.810C>T (p.Ser270=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	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 2977091	NM_015509.4(NECAP1):c.822G>C (p.Gln274His)	NECAP1 (Q274H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2920302	NM_015509.4(NECAP1):c.383+15T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2910656	NM_015509.4(NECAP1):c.384-15G>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2856880	NM_015509.4(NECAP1):c.681C>A (p.Ile227=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 2788322	NM_015509.4(NECAP1):c.393G>A (p.Lys131=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 2761697	NM_015509.4(NECAP1):c.779+19C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2664603	NM_015509.4(NECAP1):c.38_39del (p.Val13fs)	LOC126861440, NECAP1 (V13fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2642685	NM_015509.4(NECAP1):c.717A>G (p.Thr239=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642684	NM_015509.4(NECAP1):c.456C>G (p.Gly152=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2636934	NM_015509.4(NECAP1):c.565C>A (p.Pro189Thr)	NECAP1 (P189T)	Single nucleotide variant (missense variant +1 more)	NECAP1-related disorder	GUncertain significance
Select item 2545625	NM_015509.4(NECAP1):c.751T>G (p.Leu251Val)	NECAP1 (L251V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 2426174	NC_000012.11:g.(?_8211333)_(8248686_?)dup	C3AR1, NECAP1	Duplication	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2416283	NM_015509.4(NECAP1):c.579C>A (p.Gly193=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 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 2165678	NM_015509.4(NECAP1):c.81C>T (p.Ser27=)	NECAP1, LOC126861440	Single nucleotide variant (synonymous variant +1 more)	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 2162382	NM_015509.4(NECAP1):c.95+3A>T	NECAP1, LOC126861440	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2162232	NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)	NECAP1 (G222S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2160158	NM_015509.4(NECAP1):c.677-12C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 2149158	NM_015509.4(NECAP1):c.573A>G (p.Pro191=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 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 2131283	NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)	NECAP1 (G172D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2125754	NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)	NECAP1 (P234S)	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 2119939	NM_015509.4(NECAP1):c.427A>G (p.Met143Val)	NECAP1 (M143V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
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 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 2090911	NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)	NECAP1 (G181A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
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 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 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 2051189	NM_015509.4(NECAP1):c.676+10G>A	NECAP1	Single nucleotide variant (intron variant)	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 2048014	NM_015509.4(NECAP1):c.197-19T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2044348	NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)	NECAP1 (T196P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2034541	NM_015509.4(NECAP1):c.555C>T (p.Ser185=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2031109	NM_015509.4(NECAP1):c.677-17del	NECAP1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 21	GBenign
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 2019217	NM_015509.4(NECAP1):c.765C>T (p.Phe255=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2009357	NM_015509.4(NECAP1):c.384-12G>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2004609	NM_015509.4(NECAP1):c.383+13T>A	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2004608	NM_015509.4(NECAP1):c.383+13del	NECAP1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 2003784	NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)	NECAP1 (E133G)	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 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 1975104	NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)	NECAP1 (K160T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 1972958	NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)	NECAP1 (P236S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21 +1 more	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 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 1949903	NM_015509.4(NECAP1):c.197-5G>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1949751	NM_015509.4(NECAP1):c.531G>A (p.Arg177=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	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 1943020	NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)	NECAP1 (V237I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance
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 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1717342	NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)	NECAP1 (G172V)	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 1656827	NM_015509.4(NECAP1):c.570G>A (p.Pro190=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1655468	NM_015509.4(NECAP1):c.492+15T>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 1635057	NM_015509.4(NECAP1):c.197-8T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 1627378	NM_015509.4(NECAP1):c.492+18A>T	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 1620692	NM_015509.4(NECAP1):c.196+11C>T	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1615099	NM_015509.4(NECAP1):c.492+19A>G	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GBenign
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 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 1594677	NM_015509.4(NECAP1):c.301+14G>A	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 1591356	NM_015509.4(NECAP1):c.383+11dup	NECAP1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1588776	NM_015509.4(NECAP1):c.780-13T>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1582301	NM_015509.4(NECAP1):c.648G>A (p.Pro216=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	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 1570885	NM_015509.4(NECAP1):c.301+15A>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
Select item 1568758	NM_015509.4(NECAP1):c.723A>G (p.Ala241=)	NECAP1	Single nucleotide variant (synonymous variant +1 more)	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 1543537	NM_015509.4(NECAP1):c.196+12G>C	NECAP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 21	GLikely benign
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 1535352	NM_015509.4(NECAP1):c.676+18A>G	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

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