C0392475[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21240	NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)	ESCO2 (A80V)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +3 more	GBenign
Select item 21241	NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)	ESCO2 (S85fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21242	NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)	ESCO2 (R99fs)	Microsatellite (frameshift variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 21244	NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)	ESCO2 (K103fs)	Deletion (frameshift variant)	not provided	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 21245	NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)	ESCO2 (P140fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1736	NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)	ESCO2 (R169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1740	NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)	ESCO2 (Q202*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 21246	NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)	ESCO2 (V249fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1737	NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)	ESCO2 (E251fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1738	NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)	ESCO2 (T254fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 21249	NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)	ESCO2 (F255fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21250	NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)	ESCO2 (D292fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21251	NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)	ESCO2 (R293fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 21252	NM_001017420.3(ESCO2):c.955+2_955+5del	ESCO2	Deletion (splice donor variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 21232	NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)	ESCO2 (T371fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 21231	NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)	ESCO2 (T371fs)	Insertion (frameshift variant)	not provided	GPathogenic
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 21234	NM_001017420.3(ESCO2):c.1132-7A>G	ESCO2	Single nucleotide variant (intron variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic
Select item 21235	NM_001017420.3(ESCO2):c.1263+1G>C	ESCO2	Single nucleotide variant (splice donor variant)	Roberts-SC phocomelia syndrome	Gnot provided
Select item 1739	NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)	ESCO2 (W423*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 21236	NM_001017420.3(ESCO2):c.1354-18G>A	ESCO2	Single nucleotide variant (intron variant)	Roberts-SC phocomelia syndrome	Gnot provided
Select item 21237	NM_001017420.3(ESCO2):c.1461_1462del (p.Arg487fs)	ESCO2 (R487fs)	Microsatellite (frameshift variant)	Roberts-SC phocomelia syndrome	Gnot provided
Select item 21238	NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)	ESCO2 (C533fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome	GPathogenic
Select item 1735	NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)	ESCO2 (W539G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21239	NM_001017420.3(ESCO2):c.1674-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic

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Items: 27