"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PTPN23"[ge - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2653754	NM_015466.4(PTPN23):c.102T>C (p.Tyr34=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1614430	NM_015466.4(PTPN23):c.369G>A (p.Ala123=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1348622	NM_015466.4(PTPN23):c.424G>T (p.Val142Phe)	PTPN23 (V142F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445953	NM_015466.4(PTPN23):c.456C>T (p.Gly152=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653755	NM_015466.4(PTPN23):c.464C>T (p.Ala155Val)	PTPN23 (A155V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719952	NM_015466.4(PTPN23):c.483C>A (p.Phe161Leu)	PTPN23 (F161L +1 more)	Single nucleotide variant (missense variant)	not provided	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 1576494	NM_015466.4(PTPN23):c.531C>T (p.Asn177=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964861	NM_015466.4(PTPN23):c.547-7G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1535714	NM_015466.4(PTPN23):c.627+8C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1642147	NM_015466.4(PTPN23):c.672C>T (p.Pro224=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718732	NM_015466.4(PTPN23):c.781G>A (p.Glu261Lys)	PTPN23 (E135K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1576523	NM_015466.4(PTPN23):c.888C>T (p.Asp296=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452815	NM_015466.4(PTPN23):c.954C>T (p.Phe318=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584797	NM_015466.4(PTPN23):c.1113G>A (p.Leu371=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 787660	NM_015466.4(PTPN23):c.1209G>A (p.Leu403=)	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 1636999	NM_015466.4(PTPN23):c.1215C>T (p.Pro405=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175834	NM_015466.4(PTPN23):c.1278G>A (p.Ala426=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related condition +2 more	GLikely benign
Select item 1549286	NM_015466.4(PTPN23):c.1387T>C (p.Leu463=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1562211	NM_015466.4(PTPN23):c.1548C>T (p.His516=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189115	NM_015466.4(PTPN23):c.1569C>T (p.Val523=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1013474	NM_015466.4(PTPN23):c.1643-7C>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 636323	NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg)	PTPN23 (K583R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564520	NM_015466.4(PTPN23):c.1788A>G (p.Ser596=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603331	NM_015466.4(PTPN23):c.1806C>T (p.Phe602=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587316	NM_015466.4(PTPN23):c.1846C>T (p.Leu616=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711573	NM_015466.4(PTPN23):c.1911C>T (p.Tyr637=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644585	NM_015466.4(PTPN23):c.2037C>T (p.Tyr679=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722433	NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)	PTPN23 (A554T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1166916	NM_015466.4(PTPN23):c.2148G>A (p.Pro716=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related condition +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 1532972	NM_015466.4(PTPN23):c.2442C>T (p.Pro814=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872546	NM_015466.4(PTPN23):c.2575G>C (p.Gly859Arg)	PTPN23 (G859R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2653756	NM_015466.4(PTPN23):c.2718C>A (p.Pro906=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181323	NM_015466.4(PTPN23):c.2760G>A (p.Thr920=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695073	NM_015466.4(PTPN23):c.2806C>T (p.His936Tyr)	PTPN23 (H810Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636316	NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1])	PTPN23	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1375606	NM_015466.4(PTPN23):c.3023G>T (p.Gly1008Val)	PTPN23 (G1008V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872547	NM_015466.4(PTPN23):c.3037C>T (p.Pro1013Ser)	PTPN23 (P887S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636324	NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His)	PTPN23 (Q1017H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3025559	NM_015466.4(PTPN23):c.3150A>C (p.Ala1050=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653757	NM_015466.4(PTPN23):c.3288G>A (p.Pro1096=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600845	NM_015466.4(PTPN23):c.3295C>T (p.Pro1099Ser)	PTPN23 (P1099S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1335514	NM_015466.4(PTPN23):c.3355C>T (p.Leu1119=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218719	NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser)	PTPN23 (G1130S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1335515	NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln)	PTPN23 (R1056Q +1 more)	Single nucleotide variant (missense variant)	PTPN23-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1991346	NM_015466.4(PTPN23):c.3743G>T (p.Cys1248Phe)	PTPN23 (C1122F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491348	NM_015466.4(PTPN23):c.3745G>A (p.Val1249Met)	PTPN23 (V1123M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2653758	NM_015466.4(PTPN23):c.3813T>C (p.Ala1271=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641373	NM_015466.4(PTPN23):c.3825C>T (p.Leu1275=)	PTPN23	Single nucleotide variant (synonymous variant)	PTPN23-related condition +1 more	GLikely benign
Select item 2583012	NM_015466.4(PTPN23):c.3831C>G (p.Val1277=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675918	NM_015466.4(PTPN23):c.3882G>A (p.Met1294Ile)	PTPN23 (M1168I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653759	NM_015466.4(PTPN23):c.3972C>T (p.Arg1324=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634374	NM_015466.4(PTPN23):c.3988G>A (p.Val1330Met)	PTPN23 (V1204M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1647419	NM_015466.4(PTPN23):c.4062T>G (p.Thr1354=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576805	NM_015466.4(PTPN23):c.4083C>A (p.Pro1361=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911086	NM_015466.4(PTPN23):c.4148C>T (p.Pro1383Leu)	PTPN23 (P1257L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781709	NM_015466.4(PTPN23):c.4149G>T (p.Pro1383=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2047053	NM_015466.4(PTPN23):c.4158G>A (p.Thr1386=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652733	NM_015466.4(PTPN23):c.4179-5C>T	PTPN23	Single nucleotide variant (intron variant)	PTPN23-related condition +1 more	GBenign/Likely benign
Select item 1645903	NM_015466.4(PTPN23):c.4308G>A (p.Leu1436=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335516	NM_015466.4(PTPN23):c.4434C>T (p.Asn1478=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672938	NM_015466.4(PTPN23):c.4617A>C (p.Pro1539=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218720	NM_015466.4(PTPN23):c.4655T>C (p.Leu1552Pro)	PTPN23 (L1552P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1443650	NM_015466.4(PTPN23):c.4709C>T (p.Ser1570Leu)	PTPN23 (S1570L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 67