ClinVar for Gene (Select 129563) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251854	NC_000002.11:g.(233001430_233028168)_(233028343_233075035)dup	DIS3L2	Duplication	not specified	GUncertain significance
Select item 3247277	NC_000002.11:g.(?_233194503)_(233399072_?)dup	ALPG, ALPI +5 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3247218	NC_000002.11:g.(?_233194596)_(233197054_?)del	DIS3L2	Deletion	Perlman syndrome	GLikely pathogenic
Select item 3247217	NC_000002.11:g.(?_232948617)_(232952332_?)del	DIS3L2	Deletion	Perlman syndrome	GLikely pathogenic
Select item 3247216	NC_000002.11:g.(?_233194503)_(233201340_?)dup	DIS3L2	Duplication	Perlman syndrome	GUncertain significance
Select item 3247214	NC_000002.11:g.(?_233075026)_(233201340_?)dup	DIS3L2	Duplication	Perlman syndrome	GUncertain significance
Select item 3247213	NC_000002.11:g.(?_233075026)_(233195496_?)dup	DIS3L2	Duplication	Perlman syndrome	GLikely pathogenic
Select item 3247212	NC_000002.11:g.(?_233075026)_(233128160_?)dup	DIS3L2	Duplication	Perlman syndrome	GLikely pathogenic
Select item 3247211	NC_000002.11:g.(?_232952177)_(233075135_?)del	DIS3L2	Deletion	Perlman syndrome	GPathogenic
Select item 3247210	NC_000002.11:g.(?_233200473)_(233201340_?)del	DIS3L2	Deletion	Perlman syndrome	GUncertain significance
Select item 3247209	NC_000002.11:g.(?_233028149)_(233028362_?)del	DIS3L2	Deletion	Perlman syndrome	GPathogenic
Select item 3241337	NM_152383.5(DIS3L2):c.1702C>T (p.Gln568Ter)	DIS3L2 (Q568*)	Single nucleotide variant (nonsense +2 more)	Perlman syndrome	GLikely pathogenic
Select item 3241336	NM_152383.5(DIS3L2):c.1566_1569del (p.Ser522fs)	DIS3L2 (S522fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 3241335	NM_152383.5(DIS3L2):c.113_116del (p.Lys38fs)	DIS3L2 (K38fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 3236002	NM_152383.5(DIS3L2):c.1440G>A (p.Trp480Ter)	DIS3L2 (W480*)	Single nucleotide variant (nonsense +1 more)	Perlman syndrome	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3082570	NM_152383.5(DIS3L2):c.2299C>G (p.Pro767Ala)	DIS3L2 (P767A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3058406	NM_001257281.2(DIS3L2):c.1723T>C (p.Phe575Leu)	DIS3L2 (F575L)	Single nucleotide variant (missense variant)	DIS3L2-related disorder	GUncertain significance
Select item 3052540	NM_152383.5(DIS3L2):c.*7C>T	DIS3L2	Single nucleotide variant (3 prime UTR variant +2 more)	DIS3L2-related disorder	GLikely benign
Select item 3025622	NM_152383.5(DIS3L2):c.702+45C>G	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3023084	NM_152383.5(DIS3L2):c.2497-5C>A	DIS3L2	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GLikely benign
Select item 3020626	NM_152383.5(DIS3L2):c.357G>A (p.Glu119=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 3019303	NM_152383.5(DIS3L2):c.612T>A (p.Asp204Glu)	DIS3L2 (D204E)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 3012239	NM_152383.5(DIS3L2):c.438T>G (p.Cys146Trp)	DIS3L2 (C146W)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 3011834	NM_152383.5(DIS3L2):c.367-13C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 3011518	NM_152383.5(DIS3L2):c.702+8C>T	DIS3L2 (A237V)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GLikely benign
Select item 3009948	NM_152383.5(DIS3L2):c.2142C>T (p.Leu714=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GLikely benign
Select item 3008630	NM_152383.5(DIS3L2):c.1125-20G>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 3008628	NM_152383.5(DIS3L2):c.2496+12T>G	DIS3L2	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GLikely benign
Select item 3008374	NM_152383.5(DIS3L2):c.2579C>T (p.Pro860Leu)	DIS3L2 (P860L)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 3008321	NM_152383.5(DIS3L2):c.2395-7A>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 3008001	NM_152383.5(DIS3L2):c.2641G>T (p.Asp881Tyr)	DIS3L2 (D881Y)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 3007984	NM_152383.5(DIS3L2):c.2307G>A (p.Glu769=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GLikely benign
Select item 3007289	NM_152383.5(DIS3L2):c.2283G>A (p.Leu761=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GLikely benign
Select item 3001652	NM_152383.5(DIS3L2):c.1195C>T (p.Leu399Phe)	DIS3L2 (L399F)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 3001205	NM_152383.5(DIS3L2):c.2496+15G>T	DIS3L2	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GLikely benign
Select item 3000373	NM_152383.5(DIS3L2):c.1417G>A (p.Glu473Lys)	DIS3L2 (E473K)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 3000043	NM_152383.5(DIS3L2):c.85G>T (p.Gly29Cys)	DIS3L2 (G29C)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2998579	NM_152383.5(DIS3L2):c.1740-9_1740-3del	DIS3L2	Deletion (intron variant)	Perlman syndrome	GLikely benign
Select item 2993412	NM_152383.5(DIS3L2):c.1266T>C (p.Asp422=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2992147	NM_152383.5(DIS3L2):c.389A>G (p.Asp130Gly)	DIS3L2 (D130G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2990608	NM_152383.5(DIS3L2):c.1625A>G (p.Gln542Arg)	DIS3L2 (Q542R)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2990464	NM_152383.5(DIS3L2):c.1277T>C (p.Val426Ala)	DIS3L2 (V426A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2988410	NM_152383.5(DIS3L2):c.1253C>A (p.Pro418Gln)	DIS3L2 (P418Q)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2988048	NM_152383.5(DIS3L2):c.2497-10C>T	DIS3L2	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GLikely benign
Select item 2984896	NM_152383.5(DIS3L2):c.1820T>A (p.Leu607Gln)	DIS3L2 (L607Q)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2984479	NM_152383.5(DIS3L2):c.1317+21dup	DIS3L2	Duplication (intron variant)	Perlman syndrome	GLikely benign
Select item 2981678	NM_152383.5(DIS3L2):c.1659G>A (p.Gln553=)	DIS3L2	Single nucleotide variant (intron variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2980971	NM_152383.5(DIS3L2):c.216A>T (p.Val72=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2980509	NM_152383.5(DIS3L2):c.194G>A (p.Arg65Lys)	DIS3L2 (R65K)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2979915	NM_152383.5(DIS3L2):c.836A>G (p.Tyr279Cys)	DIS3L2 (Y279C)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2975204	NM_152383.5(DIS3L2):c.2172A>T (p.Arg724=)	DIS3L2	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome	GLikely benign
Select item 2959456	NM_152383.5(DIS3L2):c.844C>T (p.Leu282Phe)	DIS3L2 (L282F)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2958766	NM_152383.5(DIS3L2):c.1803C>T (p.Phe601=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2956550	NM_152383.5(DIS3L2):c.161T>C (p.Met54Thr)	DIS3L2 (M54T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2920517	NM_152383.5(DIS3L2):c.660C>T (p.Asp220=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2918596	NM_152383.5(DIS3L2):c.2289+2T>G	DIS3L2	Single nucleotide variant (intron variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2918273	NM_152383.5(DIS3L2):c.1743C>G (p.Leu581=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2917938	NM_152383.5(DIS3L2):c.1714A>G (p.Ile572Val)	DIS3L2 (I572V)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2917366	NM_152383.5(DIS3L2):c.1660-16T>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2916331	NM_152383.5(DIS3L2):c.2496+19C>T	DIS3L2	Single nucleotide variant (intron variant +1 more)	Perlman syndrome	GLikely benign
Select item 2913859	NM_152383.5(DIS3L2):c.2394+10C>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2913671	NM_152383.5(DIS3L2):c.687G>A (p.Leu229=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2913284	NM_152383.5(DIS3L2):c.1740-12C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2913021	NM_152383.5(DIS3L2):c.2159-3del	DIS3L2	Deletion (intron variant)	Perlman syndrome	GLikely benign
Select item 2912551	NM_152383.5(DIS3L2):c.1617A>G (p.Leu539=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GLikely benign
Select item 2911996	NM_152383.5(DIS3L2):c.55G>A (p.Val19Met)	DIS3L2 (V19M)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2911816	NM_152383.5(DIS3L2):c.71G>C (p.Gly24Ala)	DIS3L2 (G24A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2910160	NM_152383.5(DIS3L2):c.2496+10C>G	DIS3L2	Single nucleotide variant (intron variant +1 more)	Perlman syndrome	GLikely benign
Select item 2908930	NM_152383.5(DIS3L2):c.1973A>C (p.Lys658Thr)	DIS3L2 (K658T)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2907228	NM_152383.5(DIS3L2):c.1531A>G (p.Lys511Glu)	DIS3L2 (K511E)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2904998	NM_152383.5(DIS3L2):c.2364C>T (p.Arg788=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GLikely benign
Select item 2904494	NM_152383.5(DIS3L2):c.918G>A (p.Val306=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2904381	NM_152383.5(DIS3L2):c.199A>G (p.Thr67Ala)	DIS3L2 (T67A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2903175	NM_152383.5(DIS3L2):c.1861C>G (p.Leu621Val)	DIS3L2 (L621V)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2902698	NM_152383.5(DIS3L2):c.2436_2437delinsAC (p.Lys813Gln)	DIS3L2 (K813Q)	Indel (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2902165	NM_152383.5(DIS3L2):c.1200T>A (p.Ala400=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2901368	NM_152383.5(DIS3L2):c.2340A>G (p.Gln780=)	DIS3L2	Single nucleotide variant (synonymous variant +2 more)	Perlman syndrome	GLikely benign
Select item 2900455	NM_152383.5(DIS3L2):c.2395-20G>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2899651	NM_152383.5(DIS3L2):c.1022G>A (p.Gly341Asp)	DIS3L2 (G341D)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2898301	NM_152383.5(DIS3L2):c.934T>C (p.Cys312Arg)	DIS3L2 (C312R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2896677	NM_152383.5(DIS3L2):c.31C>A (p.Arg11=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2896450	NM_152383.5(DIS3L2):c.951-20C>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GUncertain significance
Select item 2895612	NM_152383.5(DIS3L2):c.1496G>A (p.Ser499Asn)	DIS3L2 (S499N)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2891151	NM_152383.5(DIS3L2):c.1791C>T (p.Ile597=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2890207	NM_152383.5(DIS3L2):c.1740-10C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2890019	NM_152383.5(DIS3L2):c.1511C>T (p.Pro504Leu)	DIS3L2 (P504L)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2888634	NM_152383.5(DIS3L2):c.1152A>G (p.Pro384=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2888037	NM_152383.5(DIS3L2):c.197G>A (p.Gly66Glu)	DIS3L2 (G66E)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2886253	NM_152383.5(DIS3L2):c.1180C>T (p.Leu394Phe)	DIS3L2 (L394F)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2883312	NM_152383.5(DIS3L2):c.88G>A (p.Ala30Thr)	DIS3L2 (A30T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2881317	NM_152383.5(DIS3L2):c.2158+8del	DIS3L2	Deletion (intron variant)	Perlman syndrome	GBenign
Select item 2881231	NM_152383.5(DIS3L2):c.1285G>C (p.Glu429Gln)	DIS3L2 (E429Q)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2879991	NM_152383.5(DIS3L2):c.295G>A (p.Val99Ile)	DIS3L2 (V99I)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2879230	NM_152383.5(DIS3L2):c.2395-4C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2876329	NM_152383.5(DIS3L2):c.1924-16T>C	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GUncertain significance
Select item 2875738	NM_152383.5(DIS3L2):c.1718A>T (p.Tyr573Phe)	DIS3L2 (Y573F)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 2875528	NM_152383.5(DIS3L2):c.1124+16C>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2871385	NM_152383.5(DIS3L2):c.1408C>T (p.Leu470=)	DIS3L2	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GLikely benign
Select item 2870451	NM_152383.5(DIS3L2):c.1241G>A (p.Ser414Asn)	DIS3L2 (S414N)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance

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