Related gene-specific medical variations for Gene (Select 25977) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363191	NM_015509.4(NECAP1):c.182A>T (p.Glu61Val)	NECAP1 (E61V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 1475023	NM_015509.4(NECAP1):c.77C>T (p.Ala26Val)	NECAP1, LOC126861440 (A26V)	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 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 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 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 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 783103	NM_015509.4(NECAP1):c.69G>A (p.Pro23=)	LOC126861440, NECAP1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 21 +1 more	GBenign/Likely benign
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 688920	GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1	NECAP1	Copy number loss	not provided	GPathogenic
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 541850	NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys)	LOC126861440, NECAP1 (E4K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 21	GUncertain significance

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Items: 31