Related gene-specific medical variations for Gene (Select 157570) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2467363	NM_018492.4(PBK):c.923G>A (p.Arg308His)	ESCO2, PBK (R308H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441300	NM_001017420.3(ESCO2):c.1356AGA[1] (p.Glu453del)	ESCO2 (E453del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2441299	NM_001017420.3(ESCO2):c.179T>C (p.Leu60Pro)	ESCO2 (L60P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441298	NM_001017420.3(ESCO2):c.1282G>T (p.Val428Leu)	ESCO2 (V428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440104	NM_001017420.3(ESCO2):c.189dup (p.Glu64Ter)	ESCO2 (E64*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2440098	NM_001017420.3(ESCO2):c.1622del (p.Phe541fs)	ESCO2 (F541fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2405302	NM_018492.4(PBK):c.928T>G (p.Ser310Ala)	PBK, ESCO2 (S321A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323441	NM_018492.4(PBK):c.827G>A (p.Gly276Glu)	PBK, ESCO2 (G287E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1224457	NM_001017420.3(ESCO2):c.1156del (p.Ala386fs)	ESCO2 (A386fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 991269	NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile)	ESCO2 (T254I)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome	GLikely benign
Select item 991267	NM_001017420.3(ESCO2):c.402G>A (p.Lys134=)	ESCO2	Single nucleotide variant (synonymous variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 987337	NM_001017420.3(ESCO2):c.457del (p.Arg153fs)	ESCO2 (R153fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 804409	NM_001017420.3(ESCO2):c.956-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	Roberts-SC phocomelia syndrome	GLikely pathogenic
Select item 776305	NM_018492.4(PBK):c.660G>C (p.Glu220Asp)	ESCO2, PBK (E231D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 591771	NM_001017420.3(ESCO2):c.151CAA[1] (p.Gln52del)	ESCO2 (Q52del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 362729	NM_001017420.3(ESCO2):c.-33C>T	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362728	NM_001017420.3(ESCO2):c.-38C>G	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362727	NM_001017420.3(ESCO2):c.-44G>A	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362726	NM_001017420.3(ESCO2):c.-68T>G	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 21239	NM_001017420.3(ESCO2):c.1674-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	Juberg-Hayward syndrome +1 more	GPathogenic
Select item 21238	NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)	ESCO2 (C533fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome	GPathogenic
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 21236	NM_001017420.3(ESCO2):c.1354-18G>A	ESCO2	Single nucleotide variant (intron variant)	Roberts-SC phocomelia syndrome	Gnot provided
Select item 21235	NM_001017420.3(ESCO2):c.1263+1G>C	ESCO2	Single nucleotide variant (splice donor variant)	Roberts-SC phocomelia syndrome	Gnot provided

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Items: 24