"ESPL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035030	NM_012291.5(ESPL1):c.27T>C (p.Phe9=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3058575	NM_012291.5(ESPL1):c.117C>T (p.Ser39=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3056449	NM_012291.5(ESPL1):c.347C>T (p.Ala116Val)	ESPL1 (A116V)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GBenign
Select item 3040825	NM_012291.5(ESPL1):c.1299C>T (p.Thr433=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 732991	NM_012291.5(ESPL1):c.1787G>A (p.Arg596Gln)	ESPL1 (R596Q)	Single nucleotide variant (missense variant)	ESPL1-related disorder +1 more	GBenign
Select item 3034902	NM_012291.5(ESPL1):c.3232C>A (p.His1078Asn)	ESPL1 (H1078N)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GBenign
Select item 3045847	NM_012291.5(ESPL1):c.3264C>T (p.Val1088=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3049780	NM_012291.5(ESPL1):c.3450C>T (p.Leu1150=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 2632231	NM_012291.5(ESPL1):c.3716C>A (p.Ser1239Ter)	ESPL1 (S1239*)	Single nucleotide variant (nonsense)	ESPL1-related disorder	GUncertain significance
Select item 3053220	NM_012291.5(ESPL1):c.3894A>G (p.Leu1298=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3038521	NM_012291.5(ESPL1):c.3953G>A (p.Arg1318Gln)	ESPL1 (R1318Q)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GLikely benign
Select item 713762	NM_012291.5(ESPL1):c.4010G>T (p.Gly1337Val)	ESPL1 (G1337V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3043916	NM_012291.5(ESPL1):c.4053C>T (p.Asp1351=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3048978	NM_012291.5(ESPL1):c.4314C>T (p.Ala1438=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 782559	NM_012291.5(ESPL1):c.4384G>A (p.Ala1462Thr)	ESPL1 (A1462T)	Single nucleotide variant (missense variant)	ESPL1-related disorder +1 more	GBenign
Select item 732992	NM_012291.5(ESPL1):c.4435A>G (p.Arg1479Gly)	ESPL1 (R1479G)	Single nucleotide variant (missense variant)	ESPL1-related disorder +1 more	GBenign
Select item 3044670	NM_012291.5(ESPL1):c.4528G>A (p.Gly1510Arg)	ESPL1 (G1510R)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GLikely benign
Select item 3057826	NM_012291.5(ESPL1):c.5169C>T (p.Asn1723=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3033197	NM_012291.5(ESPL1):c.5439C>T (p.Pro1813=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3050153	NM_012291.5(ESPL1):c.6161+7C>T	ESPL1	Single nucleotide variant (intron variant)	ESPL1-related disorder	GLikely benign

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Items: 20