C0392475[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 11

	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)	Juberg-Hayward syndrome +3 more	GBenign
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 158575	NM_001017420.3(ESCO2):c.648A>G (p.Lys216=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21247	NM_001017420.3(ESCO2):c.760del (p.Thr254fs)	ESCO2 (T254fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 210961	NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)	ESCO2 (E298fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 210962	NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)	ESCO2 (N304fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic
Select item 593536	NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)	ESCO2 (E310V)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 158572	NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21234	NM_001017420.3(ESCO2):c.1132-7A>G	ESCO2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158573	NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)	ESCO2 (C392Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362743	NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign