ClinVar for Gene (Select 3720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3112229	NM_004973.4(JARID2):c.836C>T (p.Ser279Leu)	JARID2 (S107L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112228	NM_004973.4(JARID2):c.793G>C (p.Ala265Pro)	JARID2 (A265P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112227	NM_004973.4(JARID2):c.770G>A (p.Arg257Gln)	JARID2 (R257Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112226	NM_004973.4(JARID2):c.680G>T (p.Gly227Val)	JARID2 (G227V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112225	NM_004973.4(JARID2):c.3664A>G (p.Lys1222Glu)	JARID2 (K1050E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112224	NM_004973.4(JARID2):c.3380G>A (p.Arg1127Gln)	JARID2 (R1127Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112223	NM_004973.4(JARID2):c.3281G>A (p.Arg1094Gln)	JARID2 (R1094Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112222	NM_004973.4(JARID2):c.280G>A (p.Asp94Asn)	JARID2 (D94N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112221	NM_004973.4(JARID2):c.2533G>T (p.Glu845Ter)	JARID2 (E673* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3112220	NM_004973.4(JARID2):c.2524G>A (p.Ala842Thr)	JARID2 (A670T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112219	NM_004973.4(JARID2):c.2401G>C (p.Glu801Gln)	JARID2 (E801Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112218	NM_004973.4(JARID2):c.2387T>C (p.Val796Ala)	JARID2 (V624A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112217	NM_004973.4(JARID2):c.2372C>T (p.Ala791Val)	JARID2 (A791V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112216	NM_004973.4(JARID2):c.2239A>C (p.Lys747Gln)	JARID2 (K575Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112215	NM_004973.4(JARID2):c.1645G>T (p.Ala549Ser)	JARID2 (A377S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112214	NM_004973.4(JARID2):c.1606C>T (p.Pro536Ser)	JARID2 (P536S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112213	NM_004973.4(JARID2):c.1523C>T (p.Thr508Met)	JARID2 (T508M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112212	NM_004973.4(JARID2):c.1390G>A (p.Ala464Thr)	JARID2 (A292T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112211	NM_004973.4(JARID2):c.1178T>C (p.Leu393Pro)	JARID2 (L221P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112210	NM_004973.4(JARID2):c.1167G>C (p.Gln389His)	JARID2 (Q217H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112209	NM_004973.4(JARID2):c.1095C>G (p.His365Gln)	JARID2 (H193Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112208	NM_004973.4(JARID2):c.1016C>T (p.Thr339Ile)	JARID2 (T339I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075719	NM_004973.4(JARID2):c.2071C>T (p.Gln691Ter)	JARID2 (Q519* +1 more)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 3065613	NM_004973.4(JARID2):c.1702C>T (p.His568Tyr)	JARID2 (H396Y +1 more)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual disability and dysmorphic facies	GUncertain significance
Select item 3065161	NM_004973.4(JARID2):c.3369G>T (p.Lys1123Asn)	JARID2 (K1123N +1 more)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual disability and dysmorphic facies	GUncertain significance
Select item 3062945	GRCh37/hg19 6p22.3(chr6:15372355-15433883)x1	JARID2	Copy number loss	not specified	GPathogenic
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062876	GRCh37/hg19 6p22.3(chr6:15302667-15391863)x1	JARID2	Copy number loss	not specified	GPathogenic
Select item 3056803	NM_004973.4(JARID2):c.744C>T (p.Pro248=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3053686	NM_004973.4(JARID2):c.2658G>A (p.Ser886=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3052069	NM_004973.4(JARID2):c.1290_1307del (p.426QLREGL[1])	JARID2	Deletion (inframe deletion)	JARID2-related condition	GLikely benign
Select item 3050251	NM_004973.4(JARID2):c.3129C>T (p.Thr1043=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3049717	NM_004973.4(JARID2):c.2496C>T (p.Ile832=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3049562	NM_004973.4(JARID2):c.390A>G (p.Val130=)	JARID2	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related condition	GBenign
Select item 3045195	NM_004973.4(JARID2):c.1320C>G (p.Ser440=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3045138	NM_004973.4(JARID2):c.2118C>T (p.Leu706=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3041962	NM_004973.4(JARID2):c.3681C>T (p.Asp1227=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3041087	NM_004973.4(JARID2):c.1674C>T (p.Pro558=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3040941	NM_004973.4(JARID2):c.1946-10G>A	JARID2	Single nucleotide variant (intron variant)	JARID2-related condition	GLikely benign
Select item 3040938	NM_004973.4(JARID2):c.1214A>G (p.Asn405Ser)	JARID2 (N233S +1 more)	Single nucleotide variant (missense variant)	JARID2-related condition	GLikely benign
Select item 3035135	NM_004973.4(JARID2):c.1899G>A (p.Lys633=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3033214	NM_004973.4(JARID2):c.2257C>T (p.Arg753Cys)	JARID2 (R581C +1 more)	Single nucleotide variant (missense variant)	JARID2-related condition	GLikely benign
Select item 3031410	NM_004973.4(JARID2):c.1182G>T (p.Gly394=)	JARID2	Single nucleotide variant (synonymous variant)	JARID2-related condition	GLikely benign
Select item 3029868	NM_004973.4(JARID2):c.445A>C (p.Lys149Gln)	JARID2 (K149Q)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related condition	GUncertain significance
Select item 2734527	NM_004973.4(JARID2):c.416C>G (p.Pro139Arg)	JARID2 (P139R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2671955	NM_004973.4(JARID2):c.3463A>T (p.Asn1155Tyr)	JARID2 (N1155Y +1 more)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual disability and dysmorphic facies	GUncertain significance
Select item 2662150	NM_004973.4(JARID2):c.290C>T (p.Ser97Phe)	JARID2 (S97F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2656246	NM_004973.4(JARID2):c.1803C>T (p.Leu601=)	JARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656245	NM_004973.4(JARID2):c.1459A>G (p.Lys487Glu)	JARID2 (K315E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2635867	NM_004973.4(JARID2):c.53G>A (p.Ser18Asn)	JARID2 (S18N)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related condition	GUncertain significance
Select item 2632203	NM_004973.4(JARID2):c.3128C>G (p.Thr1043Ser)	JARID2 (T1043S +1 more)	Single nucleotide variant (missense variant)	JARID2-related condition	GUncertain significance
Select item 2631591	NM_004973.4(JARID2):c.2323A>G (p.Lys775Glu)	JARID2 (K603E +1 more)	Single nucleotide variant (missense variant)	JARID2-related condition	GUncertain significance
Select item 2631267	NM_004973.4(JARID2):c.393G>C (p.Lys131Asn)	JARID2 (K131N)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related condition	GUncertain significance
Select item 2631027	NM_004973.4(JARID2):c.488T>C (p.Leu163Pro)	JARID2 (L163P)	Single nucleotide variant (5 prime UTR variant +1 more)	JARID2-related condition	GUncertain significance
Select item 2623599	NM_004973.4(JARID2):c.158C>T (p.Ala53Val)	JARID2 (A53V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619535	NM_004973.4(JARID2):c.860A>G (p.His287Arg)	JARID2 (H115R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615729	NM_004973.4(JARID2):c.1561T>G (p.Ser521Ala)	JARID2 (S349A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614211	NM_004973.4(JARID2):c.1573C>A (p.Arg525Ser)	JARID2 (R525S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613635	NM_004973.4(JARID2):c.499C>T (p.Pro167Ser)	JARID2 (P167S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613258	NM_004973.4(JARID2):c.1195T>C (p.Ser399Pro)	JARID2 (S227P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2612034	NM_004973.4(JARID2):c.3115A>G (p.Met1039Val)	JARID2 (M1039V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609491	NM_004973.4(JARID2):c.35A>C (p.Gln12Pro)	JARID2 (Q12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607837	NM_004973.4(JARID2):c.1358C>T (p.Pro453Leu)	JARID2 (P453L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602793	NM_004973.4(JARID2):c.3001G>A (p.Val1001Met)	JARID2 (V1001M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601404	NM_004973.4(JARID2):c.3641C>G (p.Pro1214Arg)	JARID2 (P1214R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598472	NM_004973.4(JARID2):c.1388C>T (p.Ala463Val)	JARID2 (A291V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593968	NM_004973.4(JARID2):c.2218C>T (p.His740Tyr)	JARID2 (H568Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593741	NM_004973.4(JARID2):c.2224G>C (p.Glu742Gln)	JARID2 (E742Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2580532	NM_004973.4(JARID2):c.2770T>C (p.Ser924Pro)	JARID2 (S752P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577045	NM_004973.4(JARID2):c.2542-8C>A	JARID2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2576101	NM_004973.4(JARID2):c.745G>C (p.Ala249Pro)	JARID2 (A249P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571783	NM_004973.4(JARID2):c.1360C>A (p.Gln454Lys)	JARID2 (Q282K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545616	NM_004973.4(JARID2):c.708A>C (p.Glu236Asp)	JARID2 (E236D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534189	NM_004973.4(JARID2):c.1907A>G (p.Lys636Arg)	JARID2 (K464R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534188	NM_004973.4(JARID2):c.1205C>A (p.Pro402His)	JARID2 (P230H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532222	NM_004973.4(JARID2):c.31A>C (p.Ile11Leu)	JARID2 (I11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532061	NM_004973.4(JARID2):c.3634A>G (p.Ser1212Gly)	JARID2 (S1040G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522950	NM_004973.4(JARID2):c.2359C>T (p.Arg787Trp)	JARID2 (R787W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522291	NM_004973.4(JARID2):c.1556G>T (p.Ser519Ile)	JARID2 (S347I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520829	NM_004973.4(JARID2):c.1231G>A (p.Gly411Ser)	JARID2 (G411S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519343	NM_004973.4(JARID2):c.1493G>A (p.Arg498Gln)	JARID2 (R326Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507037	NM_004973.4(JARID2):c.2113C>G (p.Leu705Val)	JARID2 (L533V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505818	NM_004973.4(JARID2):c.70T>A (p.Ser24Thr)	JARID2 (S24T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2463638	NM_004973.4(JARID2):c.1024G>A (p.Val342Met)	JARID2 (V342M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446060	NM_004973.4(JARID2):c.763G>C (p.Asp255His)	JARID2 (D255H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444119	NM_004973.4(JARID2):c.1945+1G>A	JARID2	Single nucleotide variant (splice donor variant)	Developmental delay with variable intellectual disability and dysmorphic facies	GLikely pathogenic
Select item 2443336	NM_004973.4(JARID2):c.2363G>A (p.Arg788Gln)	JARID2 (R616Q +1 more)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual disability and dysmorphic facies	GLikely benign
Select item 2428963	NM_004973.4(JARID2):c.3022G>C (p.Val1008Leu)	JARID2 (V1008L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412905	NM_004973.4(JARID2):c.2270A>C (p.Lys757Thr)	JARID2 (K585T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412402	NM_004973.4(JARID2):c.545A>G (p.Glu182Gly)	JARID2 (E10G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398496	NM_004973.4(JARID2):c.2279T>C (p.Leu760Pro)	JARID2 (L760P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394249	NM_004973.4(JARID2):c.3728C>T (p.Ser1243Leu)	JARID2 (S1071L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388849	NM_004973.4(JARID2):c.1577C>G (p.Ser526Cys)	JARID2 (S526C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2387170	NM_004973.4(JARID2):c.416del (p.Pro139fs)	JARID2 (P139fs)	Deletion (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2372643	NM_004973.4(JARID2):c.884C>T (p.Ser295Leu)	JARID2 (S123L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2370770	NM_004973.4(JARID2):c.868C>T (p.Pro290Ser)	JARID2 (P118S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370256	NM_004973.4(JARID2):c.952G>C (p.Gly318Arg)	JARID2 (G318R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369338	NM_004973.4(JARID2):c.977G>A (p.Arg326His)	JARID2 (R154H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361797	NM_004973.4(JARID2):c.2899C>G (p.Leu967Val)	JARID2 (L795V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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