Related gene-specific medical variations for Gene (Select 25930) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382147	NM_015466.4(PTPN23):c.2968G>T (p.Gly990Ter)	PTPN23 (G864* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GLikely pathogenic
Select item 3360986	NM_015466.4(PTPN23):c.33G>C (p.Trp11Cys)	PTPN23 (W11C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3360060	NM_015466.4(PTPN23):c.2513C>G (p.Ser838Cys)	PTPN23 (S712C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359733	NM_015466.4(PTPN23):c.1185C>A (p.Asp395Glu)	PTPN23 (D269E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359387	NM_015466.4(PTPN23):c.4640C>A (p.Pro1547His)	PTPN23 (P1421H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247017	NC_000003.11:g.(?_47422587)_(47437727_?)dup	PTPN23	Duplication	not provided	GUncertain significance
Select item 3247015	NC_000003.11:g.(?_47422587)_(47454675_?)del	PTPN23	Deletion	not provided	GPathogenic
Select item 2990770	NM_015466.4(PTPN23):c.52G>T (p.Gly18Cys)	PTPN23, PTPN23-DT (G18C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2689843	NM_015466.4(PTPN23):c.3995G>A (p.Arg1332His)	PTPN23 (R1206H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 2689842	NM_015466.4(PTPN23):c.4609T>A (p.Ser1537Thr)	PTPN23 (S1537T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 2442043	NM_015466.4(PTPN23):c.4540_4543dup (p.Ser1515Ter)	PTPN23 (S1389* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 2435291	NM_015466.4(PTPN23):c.1708C>T (p.Arg570Cys)	PTPN23 (R444C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 2435290	NM_015466.4(PTPN23):c.4034G>A (p.Arg1345His)	PTPN23 (R1219H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 2435289	NM_015466.4(PTPN23):c.4849A>T (p.Thr1617Ser)	PTPN23 (T1491S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 2124695	NM_015466.4(PTPN23):c.76G>C (p.Val26Leu)	PTPN23, PTPN23-DT (V26L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2049032	NM_015466.4(PTPN23):c.84+2T>A	PTPN23, PTPN23-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2006621	NM_015466.4(PTPN23):c.2T>C (p.Met1Thr)	PTPN23, PTPN23-DT (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1971452	NM_015466.4(PTPN23):c.84+17T>C	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949725	NM_015466.4(PTPN23):c.84+16A>G	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676530	NM_015466.4(PTPN23):c.3581_3584del (p.Val1194fs)	PTPN23 (V1068fs +1 more)	Deletion	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more	GPathogenic/Likely pathogenic
Select item 1672888	NM_015466.4(PTPN23):c.84+9G>A	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664998	NM_015466.4(PTPN23):c.84+14C>G	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655441	NM_015466.4(PTPN23):c.48G>A (p.Glu16=)	PTPN23, PTPN23-DT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1655333	NM_015466.4(PTPN23):c.84+20T>A	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655331	NM_015466.4(PTPN23):c.84+19_84+20insA	PTPN23, PTPN23-DT	Insertion (intron variant)	not provided	GLikely benign
Select item 1639736	NM_015466.4(PTPN23):c.84+12T>G	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607278	NM_015466.4(PTPN23):c.84+10C>G	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602337	NM_015466.4(PTPN23):c.84+15C>T	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564226	NM_015466.4(PTPN23):c.84+9G>C	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562773	NM_015466.4(PTPN23):c.84+18C>A	PTPN23, PTPN23-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557932	NM_015466.4(PTPN23):c.9C>T (p.Ala3=)	PTPN23, PTPN23-DT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1499435	NM_015466.4(PTPN23):c.79AAG[1] (p.Lys28del)	PTPN23, PTPN23-DT (K28del)	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1480542	NM_015466.4(PTPN23):c.64T>C (p.Phe22Leu)	PTPN23, PTPN23-DT (F22L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 33