ClinVar for Gene (Select 25930) - ClinVar - NCBI

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	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 3378393	NM_015466.4(PTPN23):c.415-3C>G	PTPN23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3376094	NM_015466.4(PTPN23):c.1525_1533del (p.Ser509_Thr511del)	PTPN23	Deletion	not provided	GUncertain significance
Select item 3373655	NM_015466.4(PTPN23):c.2777C>T (p.Ala926Val)	PTPN23 (A800V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372421	NM_015466.4(PTPN23):c.159+5G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3372419	NM_015466.4(PTPN23):c.383T>G (p.Leu128Arg)	PTPN23 (L128R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371536	NM_015466.4(PTPN23):c.3973A>C (p.Ser1325Arg)	PTPN23 (S1199R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371179	NM_015466.4(PTPN23):c.775C>A (p.Gln259Lys)	PTPN23 (Q133K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368427	NM_015466.4(PTPN23):c.1016T>G (p.Val339Gly)	PTPN23 (V213G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365147	NM_015466.4(PTPN23):c.1250T>G (p.Ile417Ser)	PTPN23 (I291S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364310	NM_015466.4(PTPN23):c.4355dup (p.His1452fs)	PTPN23 (H1326fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
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 3311452	NM_015466.4(PTPN23):c.3157C>A (p.Pro1053Thr)	PTPN23 (P1053T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311451	NM_015466.4(PTPN23):c.3086C>T (p.Ala1029Val)	PTPN23 (A1029V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311449	NM_015466.4(PTPN23):c.3926A>G (p.Gln1309Arg)	PTPN23 (Q1309R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311448	NM_015466.4(PTPN23):c.4271T>C (p.Leu1424Pro)	PTPN23 (L1298P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311447	NM_015466.4(PTPN23):c.3706C>G (p.Leu1236Val)	PTPN23 (L1110V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311446	NM_015466.4(PTPN23):c.3175C>T (p.Pro1059Ser)	PTPN23 (P1059S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255184	NM_015466.4(PTPN23):c.2647A>G (p.Thr883Ala)	PTPN23 (T757A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	GUncertain significance
Select item 3250850	NM_015466.4(PTPN23):c.2507G>A (p.Arg836Gln)	PTPN23 (R710Q +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 3239303	NM_015466.4(PTPN23):c.903T>C (p.Thr301=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239164	NM_015466.4(PTPN23):c.498C>T (p.Ser166=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149195	NM_015466.4(PTPN23):c.541A>C (p.Met181Leu)	PTPN23 (M181L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149194	NM_015466.4(PTPN23):c.4432-5_4432-3del	PTPN23	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3149193	NM_015466.4(PTPN23):c.4292A>G (p.Gln1431Arg)	PTPN23 (Q1305R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3149189	NM_015466.4(PTPN23):c.3301C>T (p.Pro1101Ser)	PTPN23 (P1101S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149187	NM_015466.4(PTPN23):c.2944C>T (p.His982Tyr)	PTPN23 (H856Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149184	NM_015466.4(PTPN23):c.1696A>G (p.Met566Val)	PTPN23 (M440V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149183	NM_015466.4(PTPN23):c.1672C>T (p.Arg558Cys)	PTPN23 (R558C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149182	NM_015466.4(PTPN23):c.1654G>A (p.Val552Met)	PTPN23 (V426M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149181	NM_015466.4(PTPN23):c.1601A>C (p.Asp534Ala)	PTPN23 (D408A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149180	NM_015466.4(PTPN23):c.1337C>T (p.Ser446Leu)	PTPN23 (S446L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069104	NM_015466.4(PTPN23):c.4673C>A (p.Pro1558His)	PTPN23 (P1432H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062731	GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3	CSPG5, DHX30 +4 more	Copy number gain	not specified	GUncertain significance
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 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 3025559	NM_015466.4(PTPN23):c.3150A>C (p.Ala1050=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023806	NM_015466.4(PTPN23):c.1221G>A (p.Thr407=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023012	NM_015466.4(PTPN23):c.2130-13G>C	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020293	NM_015466.4(PTPN23):c.3996C>T (p.Arg1332=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014651	NM_015466.4(PTPN23):c.4236G>A (p.Val1412=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011008	NM_015466.4(PTPN23):c.400C>A (p.Arg134=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009134	NM_015466.4(PTPN23):c.627+18G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007440	NM_015466.4(PTPN23):c.4431+15G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007367	NM_015466.4(PTPN23):c.160-5C>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007157	NM_015466.4(PTPN23):c.2886T>C (p.His962=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004371	NM_015466.4(PTPN23):c.2225dup (p.Pro742_Glu743insTer)	PTPN23	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3001527	NM_015466.4(PTPN23):c.3889-8T>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000628	NM_015466.4(PTPN23):c.2391G>A (p.Ser797=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000090	NM_015466.4(PTPN23):c.1798-14dup	PTPN23	Duplication (intron variant)	not provided	GBenign
Select item 2998415	NM_015466.4(PTPN23):c.876C>T (p.Asp292=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997466	NM_015466.4(PTPN23):c.2355C>T (p.His785=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995673	NM_015466.4(PTPN23):c.3407dup (p.Gly1137fs)	PTPN23 (G1011fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2994398	NM_015466.4(PTPN23):c.3927G>C (p.Gln1309His)	PTPN23 (Q1183H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992995	NM_015466.4(PTPN23):c.3306A>G (p.Pro1102=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2990268	NM_015466.4(PTPN23):c.808-11dup	PTPN23	Duplication (intron variant)	not provided	GLikely benign
Select item 2990126	NM_015466.4(PTPN23):c.2124G>A (p.Leu708=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990098	NM_015466.4(PTPN23):c.3387C>T (p.Gly1129=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988488	NM_015466.4(PTPN23):c.672C>G (p.Pro224=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986364	NM_015466.4(PTPN23):c.3786C>T (p.Thr1262=)	PTPN23	Single nucleotide variant (synonymous 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 2981429	NM_015466.4(PTPN23):c.2947C>T (p.Leu983Phe)	PTPN23 (L857F +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 2980013	NM_015466.4(PTPN23):c.3339C>T (p.Gly1113=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979630	NM_015466.4(PTPN23):c.2130-6G>A	PTPN23	Single nucleotide variant (intron variant)	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 2974756	NM_015466.4(PTPN23):c.1437G>A (p.Gln479=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971698	NM_015466.4(PTPN23):c.2130-5_2130dup	PTPN23	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 2970266	NM_015466.4(PTPN23):c.1722G>A (p.Glu574=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967364	NM_015466.4(PTPN23):c.807+13G>A	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965987	NM_015466.4(PTPN23):c.4617A>G (p.Pro1539=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965002	NM_015466.4(PTPN23):c.160-3del	PTPN23	Deletion (intron variant)	not provided	GBenign
Select item 2963073	NM_015466.4(PTPN23):c.4432-15_4432-14del	PTPN23	Deletion (intron variant)	not provided	GLikely benign
Select item 2917671	NM_015466.4(PTPN23):c.999A>G (p.Val333=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917644	NM_015466.4(PTPN23):c.3948G>A (p.Leu1316=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913344	NM_015466.4(PTPN23):c.1949+10C>T	PTPN23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904910	NM_015466.4(PTPN23):c.2040A>G (p.Ala680=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903890	NM_015466.4(PTPN23):c.2997C>T (p.Pro999=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900687	NM_015466.4(PTPN23):c.3648C>T (p.Cys1216=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900686	NM_015466.4(PTPN23):c.3418C>T (p.Leu1140=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900401	NM_015466.4(PTPN23):c.4722C>G (p.Ser1574=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890984	NM_015466.4(PTPN23):c.3625C>T (p.Arg1209Cys)	PTPN23 (R1083C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2890472	NM_015466.4(PTPN23):c.583T>C (p.Leu195=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888104	NM_015466.4(PTPN23):c.684A>G (p.Ser228=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888055	NM_015466.4(PTPN23):c.3399T>C (p.Ser1133=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888021	NM_015466.4(PTPN23):c.1566C>T (p.His522=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882289	NM_015466.4(PTPN23):c.1575C>T (p.Asn525=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881394	NM_015466.4(PTPN23):c.3483G>A (p.Glu1161=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881056	NM_015466.4(PTPN23):c.3537G>A (p.Glu1179=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877736	NM_015466.4(PTPN23):c.4782G>A (p.Leu1594=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877155	NM_015466.4(PTPN23):c.1587C>A (p.Leu529=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876645	NM_015466.4(PTPN23):c.1881C>G (p.Leu627=)	PTPN23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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