C5394423[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2422081	NM_015466.4(PTPN23):c.759T>A (p.His253Gln)	PTPN23 (H127Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more	GUncertain significance
Select item 1537965	NM_015466.4(PTPN23):c.1004-4C>G	PTPN23	Single nucleotide variant (intron variant)	PTPN23-related condition +2 more	GConflicting classifications of pathogenicity
Select item 636317	NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp)	PTPN23 (R431W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more	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 1722433	NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)	PTPN23 (A554T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +2 more	GUncertain significance
Select item 1939431	NM_015466.4(PTPN23):c.2248C>G (p.Pro750Ala)	PTPN23 (P624A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1481594	NM_015466.4(PTPN23):c.2628G>A (p.Ala876=)	PTPN23	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more	GConflicting classifications of pathogenicity
Select item 1639389	NM_015466.4(PTPN23):c.3484C>T (p.Arg1162Trp)	PTPN23 (R1036W +1 more)	Single nucleotide variant (missense variant)	PTPN23-related condition +2 more	GLikely benign
Select item 1574874	NM_015466.4(PTPN23):c.3773C>T (p.Pro1258Leu)	PTPN23 (P1258L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 1609685	NM_015466.4(PTPN23):c.4106G>A (p.Arg1369His)	PTPN23 (R1243H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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