CN300934[trait identifier] AND "Natera, Inc."[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196298	NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	ESCO2 (C49W)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GBenign/Likely benign
Select item 1071994	NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)	ESCO2 (V56fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 21243	NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)	ESCO2 (K103fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 362732	NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	ESCO2 (C109R)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 708037	NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg)	ESCO2 (G128R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 158574	NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)	ESCO2 (G128E)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 754392	NM_001017420.3(ESCO2):c.393C>T (p.Val131=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727801	NM_001017420.3(ESCO2):c.405G>A (p.Lys135=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1736	NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)	ESCO2 (R169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 799509	NM_001017420.3(ESCO2):c.603A>G (p.Pro201=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115634	NM_001017420.3(ESCO2):c.666G>A (p.Ser222=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799167	NM_001017420.3(ESCO2):c.684G>A (p.Pro228=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 21247	NM_001017420.3(ESCO2):c.760del (p.Thr254fs)	ESCO2 (T254fs)	Deletion (frameshift variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic
Select item 742070	NM_001017420.3(ESCO2):c.765T>C (p.Phe255=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099813	NM_001017420.3(ESCO2):c.768G>A (p.Ala256=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 21251	NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)	ESCO2 (R293fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 1067582	NM_001017420.3(ESCO2):c.1013+1G>A	ESCO2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 362737	NM_001017420.3(ESCO2):c.1013+7A>G	ESCO2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 21233	NM_001017420.3(ESCO2):c.1131+1G>A	ESCO2	Single nucleotide variant (splice donor variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic
Select item 1134431	NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108932	NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796790	NM_001017420.3(ESCO2):c.1674-9_1674-7del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 1164687	NM_001017420.3(ESCO2):c.1674-4T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 23