PTPRU[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 3352635	NM_133178.4(PTPRU):c.-10C>A	LOC129929955, PTPRU	Single nucleotide variant (5 prime UTR variant)	PTPRU-related disorder	GLikely benign
Select item 3149641	NM_133178.4(PTPRU):c.139G>A (p.Asp47Asn)	PTPRU (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370965	NM_133178.4(PTPRU):c.181C>T (p.Arg61Trp)	PTPRU (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149644	NM_133178.4(PTPRU):c.182G>A (p.Arg61Gln)	PTPRU (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614489	NM_133178.4(PTPRU):c.193G>C (p.Asp65His)	PTPRU (D65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366431	NM_133178.4(PTPRU):c.259G>C (p.Val87Leu)	PTPRU (V87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250346	NM_133178.4(PTPRU):c.262A>G (p.Ile88Val)	PTPRU (I88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149660	NM_133178.4(PTPRU):c.325C>T (p.Arg109Trp)	PTPRU (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052506	NM_133178.4(PTPRU):c.330C>T (p.Asp110=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 3048635	NM_133178.4(PTPRU):c.378C>T (p.Gly126=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GBenign
Select item 2596018	NM_133178.4(PTPRU):c.416A>C (p.His139Pro)	PTPRU (H139P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507718	NM_133178.4(PTPRU):c.418G>A (p.Gly140Ser)	PTPRU (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149673	NM_133178.4(PTPRU):c.434A>C (p.Gln145Pro)	PTPRU (Q145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555461	NM_133178.4(PTPRU):c.530A>G (p.Asp177Gly)	PTPRU (D177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054887	NM_133178.4(PTPRU):c.615C>T (p.Asn205=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 2241053	NM_133178.4(PTPRU):c.616G>T (p.Ala206Ser)	PTPRU (A206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149674	NM_133178.4(PTPRU):c.624C>A (p.Phe208Leu)	PTPRU (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294203	NM_133178.4(PTPRU):c.632T>C (p.Met211Thr)	PTPRU (M211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045363	NM_133178.4(PTPRU):c.687G>A (p.Gly229=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GBenign
Select item 2241054	NM_133178.4(PTPRU):c.767G>A (p.Arg256His)	PTPRU (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045749	NM_133178.4(PTPRU):c.831C>T (p.Phe277=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 3149675	NM_133178.4(PTPRU):c.859A>G (p.Thr287Ala)	PTPRU (T287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613102	NM_133178.4(PTPRU):c.862C>T (p.Pro288Ser)	PTPRU (P288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149676	NM_133178.4(PTPRU):c.915G>T (p.Gln305His)	PTPRU (Q305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267529	NM_133178.4(PTPRU):c.941A>G (p.Asp314Gly)	PTPRU (D314G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527156	NM_133178.4(PTPRU):c.964A>G (p.Ile322Val)	PTPRU (I322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043531	NM_133178.4(PTPRU):c.987G>A (p.Gly329=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 3033246	NM_133178.4(PTPRU):c.1136A>C (p.Lys379Thr)	PTPRU (K379T)	Single nucleotide variant (missense variant)	PTPRU-related disorder	GLikely benign
Select item 154718	GRCh38/hg38 1p35.3(chr1:29260983-29831866)x1	LINC01756, LOC113939988 +11 more	Copy number loss	See cases	GUncertain significance
Select item 154396	GRCh38/hg38 1p35.3-35.2(chr1:29274476-31126076)x1	LAPTM5, LINC01648 +64 more	Copy number loss	See cases	GPathogenic
Select item 3311676	NM_133178.4(PTPRU):c.1175T>A (p.Phe392Tyr)	PTPRU (F392Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311671	NM_133178.4(PTPRU):c.1192C>T (p.Arg398Cys)	PTPRU (R398C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328865	NM_133178.4(PTPRU):c.1235C>T (p.Thr412Met)	PTPRU (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553181	NM_133178.4(PTPRU):c.1238G>A (p.Arg413His)	PTPRU (R413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039229	NM_133178.4(PTPRU):c.1260G>A (p.Ser420=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 2303506	NM_133178.4(PTPRU):c.1375G>A (p.Val459Ile)	PTPRU (V459I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311674	NM_133178.4(PTPRU):c.1411C>T (p.Arg471Cys)	PTPRU (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041187	NM_133178.4(PTPRU):c.1473C>T (p.Ala491=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GBenign
Select item 3149642	NM_133178.4(PTPRU):c.1546C>T (p.Leu516Phe)	PTPRU (L516F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038491	NM_133178.4(PTPRU):c.1563+7T>G	PTPRU	Single nucleotide variant (intron variant)	PTPRU-related disorder	GLikely benign
Select item 3035603	NM_133178.4(PTPRU):c.1563+8T>G	PTPRU	Single nucleotide variant (intron variant)	PTPRU-related disorder	GLikely benign
Select item 2539736	NM_133178.4(PTPRU):c.1699G>A (p.Val567Met)	PTPRU (V567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041392	NM_133178.4(PTPRU):c.1758C>T (p.Asn586=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 3149643	NM_133178.4(PTPRU):c.1786G>A (p.Asp596Asn)	PTPRU (D596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761388	NM_133178.4(PTPRU):c.1794G>A (p.Pro598=)	PTPRU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041349	NM_133178.4(PTPRU):c.1842G>A (p.Pro614=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 2638588	NM_133178.4(PTPRU):c.1898G>A (p.Arg633Gln)	PTPRU (R633Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2327054	NM_133178.4(PTPRU):c.1913G>A (p.Arg638Gln)	PTPRU (R638Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549602	NM_133178.4(PTPRU):c.1935C>A (p.Asp645Glu)	PTPRU (D645E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334949	NM_133178.4(PTPRU):c.1981C>G (p.Leu661Val)	PTPRU (L661V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526876	NM_133178.4(PTPRU):c.1993T>C (p.Phe665Leu)	PTPRU (F665L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037900	NM_133178.4(PTPRU):c.2008G>A (p.Ala670Thr)	PTPRU (A670T)	Single nucleotide variant (missense variant)	PTPRU-related disorder	GBenign
Select item 3311669	NM_133178.4(PTPRU):c.2015G>A (p.Ser672Asn)	PTPRU (S672N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149645	NM_133178.4(PTPRU):c.2206C>G (p.Leu736Val)	PTPRU (L736V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313259	NM_133178.4(PTPRU):c.2219A>T (p.Gln740Leu)	PTPRU (Q740L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291347	NM_133178.4(PTPRU):c.2257G>T (p.Ala753Ser)	PTPRU (A753S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621383	NM_133178.4(PTPRU):c.2264G>T (p.Gly755Val)	PTPRU (G755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545102	NM_133178.4(PTPRU):c.2305A>G (p.Ile769Val)	PTPRU (I769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311668	NM_133178.4(PTPRU):c.2306T>C (p.Ile769Thr)	PTPRU (I769T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239998	NM_133178.4(PTPRU):c.2324C>T (p.Pro775Leu)	PTPRU (P775L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379288	NM_133178.4(PTPRU):c.2347G>A (p.Val783Ile)	PTPRU (V783I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603673	NM_133178.4(PTPRU):c.2357G>A (p.Arg786His)	PTPRU (R796H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149647	NM_133178.4(PTPRU):c.2368A>G (p.Thr790Ala)	PTPRU (T800A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328377	NM_133178.4(PTPRU):c.2380A>G (p.Ser794Gly)	PTPRU (S794G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311675	NM_133178.4(PTPRU):c.2381G>A (p.Ser794Asn)	PTPRU (S794N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569591	NM_133178.4(PTPRU):c.2392C>T (p.Arg798Cys)	PTPRU (R808C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049485	NM_133178.4(PTPRU):c.2408A>G (p.Gln803Arg)	PTPRU (Q803R +1 more)	Single nucleotide variant (missense variant)	PTPRU-related disorder	GBenign
Select item 2634684	NM_133178.4(PTPRU):c.2428G>A (p.Glu810Lys)	PTPRU (E810K +1 more)	Single nucleotide variant (missense variant)	PTPRU-related disorder	GUncertain significance
Select item 3311677	NM_133178.4(PTPRU):c.2431C>T (p.Arg811Trp)	PTPRU (R811W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529611	NM_133178.4(PTPRU):c.2459A>G (p.His820Arg)	PTPRU (H820R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149649	NM_133178.4(PTPRU):c.2491G>A (p.Gly831Ser)	PTPRU (G831S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039718	NM_133178.4(PTPRU):c.2497G>T (p.Val833Phe)	PTPRU (V833F +1 more)	Single nucleotide variant (missense variant)	PTPRU-related disorder	GBenign
Select item 3149650	NM_133178.4(PTPRU):c.2511C>G (p.Ser837Arg)	PTPRU (S847R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599583	NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu)	PTPRU (P844L +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2638589	NM_133178.4(PTPRU):c.2532G>A (p.Pro844=)	PTPRU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149651	NM_133178.4(PTPRU):c.2548C>T (p.Arg850Trp)	PTPRU (R850W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149652	NM_133178.4(PTPRU):c.2554G>T (p.Gly852Cys)	PTPRU (G862C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149653	NM_133178.4(PTPRU):c.2596G>A (p.Val866Ile)	PTPRU (V866I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638590	NM_133178.4(PTPRU):c.2637C>T (p.Ala879=)	PTPRU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3311673	NM_133178.4(PTPRU):c.2647G>A (p.Gly883Ser)	PTPRU (G883S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246599	NM_133178.4(PTPRU):c.2689G>A (p.Ala897Thr)	PTPRU (A897T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046260	NM_133178.4(PTPRU):c.2724G>T (p.Arg908=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 3149654	NM_133178.4(PTPRU):c.2767C>T (p.His923Tyr)	PTPRU (H933Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040562	NM_133178.4(PTPRU):c.2778G>A (p.Leu926=)	PTPRU	Single nucleotide variant (synonymous variant)	PTPRU-related disorder	GLikely benign
Select item 2619942	NM_133178.4(PTPRU):c.2794G>A (p.Asp932Asn)	PTPRU (D932N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521655	NM_133178.4(PTPRU):c.2801T>A (p.Ile934Asn)	PTPRU (I934N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149655	NM_133178.4(PTPRU):c.2815A>G (p.Ile939Val)	PTPRU (I949V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209226	NM_133178.4(PTPRU):c.2861C>T (p.Pro954Leu)	PTPRU (P954L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265039	NM_133178.4(PTPRU):c.2869G>A (p.Glu957Lys)	PTPRU (E967K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149656	NM_133178.4(PTPRU):c.2891G>A (p.Arg964His)	PTPRU (R964H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530301	NM_133178.4(PTPRU):c.2941G>A (p.Val981Ile)	PTPRU (V987I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456599	NM_133178.4(PTPRU):c.2969G>A (p.Arg990Gln)	PTPRU (R987Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311670	NM_133178.4(PTPRU):c.2998G>A (p.Gly1000Arg)	PTPRU (G1000R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149657	NM_133178.4(PTPRU):c.3089G>A (p.Arg1030Gln)	PTPRU (R1027Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599585	NM_133178.4(PTPRU):c.3136G>A (p.Val1046Ile)	PTPRU (V1043I +3 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance

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