PTPN23[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1610131	NM_015466.4(PTPN23):c.85-14T>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122565	NM_015466.4(PTPN23):c.85-13TC[3]	PTPN23	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1983926	NM_015466.4(PTPN23):c.85-4G>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1933658	NM_015466.4(PTPN23):c.109A>G (p.Asn37Asp)	PTPN23 (N37D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1637140	NM_015466.4(PTPN23):c.142C>T (p.Leu48=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2535362	NM_015466.4(PTPN23):c.158A>G (p.Gln53Arg)	PTPN23 (Q53R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2130315	NM_015466.4(PTPN23):c.159+3A>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2057146	NM_015466.4(PTPN23):c.159+7G>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658866	NM_015466.4(PTPN23):c.159+7G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953829	NM_015466.4(PTPN23):c.159+8G>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670055	NM_015466.4(PTPN23):c.159+23_159+24insATATCTTTT	PTPN23	Insertion (intron variant)	not provided	GLikely benign
Select item 1668898	NM_015466.4(PTPN23):c.159+16del	PTPN23	Deletion (intron variant)	not provided	GLikely benign
Select item 2048588	NM_015466.4(PTPN23):c.159+17A>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543905	NM_015466.4(PTPN23):c.159+24del	PTPN23	Deletion (intron variant)	not provided	GBenign
Select item 1535257	NM_015466.4(PTPN23):c.160-17C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637065	NM_015466.4(PTPN23):c.160-14A>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631276	NM_015466.4(PTPN23):c.160-14A>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646859	NM_015466.4(PTPN23):c.160-12C>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547785	NM_015466.4(PTPN23):c.160-11C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589774	NM_015466.4(PTPN23):c.160-3dup	PTPN23	Duplication (intron variant)	not provided	GBenign
Select item 2965002	NM_015466.4(PTPN23):c.160-3del	PTPN23	Deletion (intron variant)	not provided	GBenign
Select item 3007367	NM_015466.4(PTPN23):c.160-5C>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568106	NM_015466.4(PTPN23):c.160-5C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759399	NM_015466.4(PTPN23):c.165T>A (p.Ala55=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2580698	NM_015466.4(PTPN23):c.166G>A (p.Val56Ile)	PTPN23 (V56I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2382916	NM_015466.4(PTPN23):c.166G>C (p.Val56Leu)	PTPN23 (V56L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1394520	NM_015466.4(PTPN23):c.169C>A (p.Arg57Ser)	PTPN23 (R57S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1560483	NM_015466.4(PTPN23):c.171T>C (p.Arg57=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821804	NM_015466.4(PTPN23):c.178C>T (p.Arg60Ter)	PTPN23 (R60*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1462639	NM_015466.4(PTPN23):c.179G>A (p.Arg60Gln)	PTPN23 (R60Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469312	NM_015466.4(PTPN23):c.188_199dup (p.Glu63_Ser66dup)	PTPN23	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1518711	NM_015466.4(PTPN23):c.200T>C (p.Val67Ala)	PTPN23 (V67A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1650885	NM_015466.4(PTPN23):c.204C>T (p.Leu68=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1391202	NM_015466.4(PTPN23):c.206G>A (p.Arg69His)	PTPN23 (R69H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2824178	NM_015466.4(PTPN23):c.210G>A (p.Lys70=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1596436	NM_015466.4(PTPN23):c.234G>A (p.Leu78=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381894	NM_015466.4(PTPN23):c.242G>A (p.Arg81Gln)	PTPN23 (R81Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2032600	NM_015466.4(PTPN23):c.243G>C (p.Arg81=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2116562	NM_015466.4(PTPN23):c.246C>A (p.Val82=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1642602	NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu)	PTPN23 (S86L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1549753	NM_015466.4(PTPN23):c.258G>A (p.Ser86=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915960	NM_015466.4(PTPN23):c.260G>A (p.Gly87Asp)	PTPN23 (G87D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002700	NM_015466.4(PTPN23):c.261C>T (p.Gly87=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1668532	NM_015466.4(PTPN23):c.270C>T (p.Ala90=)	PTPN23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979153	NM_015466.4(PTPN23):c.271G>A (p.Ala91Thr)	PTPN23 (A91T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418247	NM_015466.4(PTPN23):c.284C>T (p.Thr95Ile)	PTPN23 (T95I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1575293	NM_015466.4(PTPN23):c.287+9C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1657724	NM_015466.4(PTPN23):c.287+10G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951898	NM_015466.4(PTPN23):c.287+11C>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788198	NM_015466.4(PTPN23):c.287+13G>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907389	NM_015466.4(PTPN23):c.287+18G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897569	NM_015466.4(PTPN23):c.287+19G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1439167	NM_015466.4(PTPN23):c.295A>G (p.Ile99Val)	PTPN23 (I99V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1317075	NM_015466.4(PTPN23):c.326A>G (p.Asp109Gly)	PTPN23 (D109G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2536440	NM_015466.4(PTPN23):c.328A>G (p.Ile110Val)	PTPN23 (I110V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1560047	NM_015466.4(PTPN23):c.333G>A (p.Lys111=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1645603	NM_015466.4(PTPN23):c.336C>T (p.Tyr112=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3149190	NM_015466.4(PTPN23):c.341A>T (p.Gln114Leu)	PTPN23 (Q114L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2096574	NM_015466.4(PTPN23):c.341A>G (p.Gln114Arg)	PTPN23 (Q114R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320048	NM_015466.4(PTPN23):c.345del (p.Cys116fs)	PTPN23 (C116fs)	Deletion (5 prime UTR variant +1 more)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GLikely pathogenic
Select item 1476339	NM_015466.4(PTPN23):c.359A>G (p.Asn120Ser)	PTPN23 (N120S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2018731	NM_015466.4(PTPN23):c.364+3G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872802	NM_015466.4(PTPN23):c.364+9C>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920585	NM_015466.4(PTPN23):c.364+12G>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657713	NM_015466.4(PTPN23):c.364+15C>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560846	NM_015466.4(PTPN23):c.364+20C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624556	NM_015466.4(PTPN23):c.365-18T>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060132	NM_015466.4(PTPN23):c.365-7_365-4del	PTPN23	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1615866	NM_015466.4(PTPN23):c.365-14C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1923662	NM_015466.4(PTPN23):c.365-12C>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029714	NM_015466.4(PTPN23):c.365-8C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049756	NM_015466.4(PTPN23):c.365-6C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932433	NM_015466.4(PTPN23):c.368C>T (p.Ala123Val)	PTPN23 (A123V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2698730	NM_015466.4(PTPN23):c.372G>T (p.Leu124=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1627382	NM_015466.4(PTPN23):c.375C>T (p.His125=)	PTPN23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2342680	NM_015466.4(PTPN23):c.392T>C (p.Met131Thr)	PTPN23 (M5T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115996	NM_015466.4(PTPN23):c.392T>A (p.Met131Lys)	PTPN23 (M131K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011008	NM_015466.4(PTPN23):c.400C>A (p.Arg134=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910162	NM_015466.4(PTPN23):c.400C>T (p.Arg134Trp)	PTPN23 (R134W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2876250	NM_015466.4(PTPN23):c.414+9del	PTPN23	Deletion (intron variant)	not provided	GLikely benign
Select item 1540972	NM_015466.4(PTPN23):c.414+9A>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561483	NM_015466.4(PTPN23):c.414+11G>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657714	NM_015466.4(PTPN23):c.414+17T>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095471	NM_015466.4(PTPN23):c.414+18A>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983317	NM_015466.4(PTPN23):c.415-15C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530110	NM_015466.4(PTPN23):c.415-13C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661092	NM_015466.4(PTPN23):c.415-12A>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577567	NM_015466.4(PTPN23):c.415-3dup	PTPN23	Duplication (intron variant)	not provided	GLikely benign
Select item 1934502	NM_015466.4(PTPN23):c.415-5C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101755	NM_015466.4(PTPN23):c.420G>A (p.Met140Ile)	PTPN23 (M140I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348622	NM_015466.4(PTPN23):c.424G>T (p.Val142Phe)	PTPN23 (V142F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1665134	NM_015466.4(PTPN23):c.426C>G (p.Val142=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638843	NM_015466.4(PTPN23):c.447C>T (p.Cys149=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545294	NM_015466.4(PTPN23):c.453C>T (p.Ala151=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445953	NM_015466.4(PTPN23):c.456C>T (p.Gly152=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154869	NM_015466.4(PTPN23):c.457G>A (p.Ala153Thr)	PTPN23 (A153T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980537	NM_015466.4(PTPN23):c.462C>T (p.Phe154=)	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

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