"PreventionGenetics, part of Exact Sciences"[submitter] AND "PTPN23"[g - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1637140	NM_015466.4(PTPN23):c.142C>T (p.Leu48=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1529582	NM_015466.4(PTPN23):c.499G>A (p.Val167Ile)	PTPN23 (V167I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1582112	NM_015466.4(PTPN23):c.546+10C>T	PTPN23	Single nucleotide variant (intron variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 1653798	NM_015466.4(PTPN23):c.693C>T (p.Gly231=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1422862	NM_015466.4(PTPN23):c.832G>A (p.Asp278Asn)	PTPN23 (D278N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1557106	NM_015466.4(PTPN23):c.948C>T (p.Asn316=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1537965	NM_015466.4(PTPN23):c.1004-4C>G	PTPN23	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2175834	NM_015466.4(PTPN23):c.1278G>A (p.Ala426=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1549286	NM_015466.4(PTPN23):c.1387T>C (p.Leu463=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 1382386	NM_015466.4(PTPN23):c.1550G>A (p.Arg517His)	PTPN23 (R391H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 721723	NM_015466.4(PTPN23):c.1628C>T (p.Pro543Leu)	PTPN23 (P543L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1631149	NM_015466.4(PTPN23):c.1642+7C>T	PTPN23	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1601498	NM_015466.4(PTPN23):c.1653C>T (p.Ala551=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 2501213	NM_015466.4(PTPN23):c.1744C>T (p.Gln582Ter)	PTPN23 (Q456* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more	GLikely pathogenic
Select item 1557664	NM_015466.4(PTPN23):c.2068C>T (p.Leu690=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1600489	NM_015466.4(PTPN23):c.2136G>A (p.Leu712=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 1166916	NM_015466.4(PTPN23):c.2148G>A (p.Pro716=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 1601662	NM_015466.4(PTPN23):c.2375C>T (p.Pro792Leu)	PTPN23 (P666L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1562933	NM_015466.4(PTPN23):c.2490G>T (p.Glu830Asp)	PTPN23 (E704D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3044677	NM_015466.4(PTPN23):c.2709T>C (p.Pro903=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder	GLikely benign
Select item 3043587	NM_015466.4(PTPN23):c.2712T>G (p.Ala904=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder	GLikely benign
Select item 1254337	NM_015466.4(PTPN23):c.2830G>A (p.Ala944Thr)	PTPN23 (A818T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1627332	NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3])	PTPN23	Microsatellite (inframe_insertion)	PTPN23-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1563612	NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1])	PTPN23	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636324	NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His)	PTPN23 (Q1017H +1 more)	Single nucleotide variant (missense variant)	PTPN23-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1569050	NM_015466.4(PTPN23):c.3284G>C (p.Gly1095Ala)	PTPN23 (G1095A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1529193	NM_015466.4(PTPN23):c.3429C>T (p.Pro1143=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1639389	NM_015466.4(PTPN23):c.3484C>T (p.Arg1162Trp)	PTPN23 (R1036W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +2 more	GLikely benign
Select item 1335515	NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln)	PTPN23 (R1056Q +1 more)	Single nucleotide variant (missense variant)	PTPN23-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1641373	NM_015466.4(PTPN23):c.3825C>T (p.Leu1275=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1575912	NM_015466.4(PTPN23):c.3889-7C>T	PTPN23	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1634374	NM_015466.4(PTPN23):c.3988G>A (p.Val1330Met)	PTPN23 (V1204M +1 more)	Single nucleotide variant (missense variant)	PTPN23-related disorder +1 more	GLikely benign
Select item 1668905	NM_015466.4(PTPN23):c.4048C>T (p.Leu1350=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1652733	NM_015466.4(PTPN23):c.4179-5C>T	PTPN23	Single nucleotide variant (intron variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 1580359	NM_015466.4(PTPN23):c.4360G>A (p.Glu1454Lys)	PTPN23 (E1328K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1643046	NM_015466.4(PTPN23):c.4578C>A (p.Pro1526=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related disorder +1 more	GBenign/Likely benign
Select item 3049943	NM_015466.4(PTPN23):c.4634C>T (p.Pro1545Leu)	PTPN23 (P1419L +1 more)	Single nucleotide variant (missense variant)	PTPN23-related disorder	GBenign
Select item 1577621	NM_015466.4(PTPN23):c.4641C>G (p.Pro1547=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1538590	NM_015466.4(PTPN23):c.4686G>A (p.Pro1562=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 39