ClinVar for Gene (Select 7799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309787	NM_001393986.1(PRDM2):c.2948C>T (p.Ala983Val)	PRDM2 (A782V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309786	NM_001393986.1(PRDM2):c.3919C>T (p.His1307Tyr)	PRDM2 (H1307Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309785	NM_001393986.1(PRDM2):c.93G>C (p.Arg31Ser)	PRDM2 (R31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309784	NM_001393986.1(PRDM2):c.1346C>T (p.Pro449Leu)	PRDM2 (P248L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309783	NM_001393986.1(PRDM2):c.2377G>A (p.Glu793Lys)	PRDM2 (E592K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309782	NM_001393986.1(PRDM2):c.2269A>T (p.Ser757Cys)	PRDM2 (S757C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309780	NM_001393986.1(PRDM2):c.1855C>T (p.Pro619Ser)	PRDM2 (P418S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3309779	NM_001393986.1(PRDM2):c.1277C>T (p.Pro426Leu)	PRDM2 (P225L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309778	NM_001393986.1(PRDM2):c.568C>A (p.Leu190Met)	PRDM2 (L190M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3218432	NM_001393986.1(PRDM2):c.707C>G (p.Pro236Arg)	PRDM2 (P236R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218431	NM_001393986.1(PRDM2):c.616G>T (p.Ala206Ser)	PRDM2 (A5S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218430	NM_001393986.1(PRDM2):c.575C>T (p.Thr192Ile)	PRDM2 (T192I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3218429	NM_001393986.1(PRDM2):c.523T>C (p.Ser175Pro)	PRDM2 (S175P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3218428	NM_001393986.1(PRDM2):c.5073A>G (p.Pro1691=)	PRDM2 (Q183R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218427	NM_001393986.1(PRDM2):c.5049C>T (p.Arg1683=)	PRDM2 (A175V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218426	NM_001393986.1(PRDM2):c.4997G>C (p.Arg1666Thr)	PRDM2 (R1666T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218425	NM_001393986.1(PRDM2):c.4906C>T (p.Arg1636Trp)	PRDM2 (R1636W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218423	NM_001393986.1(PRDM2):c.4586C>T (p.Thr1529Ile)	PRDM2 (T1328I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218422	NM_001393986.1(PRDM2):c.4583A>G (p.Gln1528Arg)	PRDM2 (Q1528R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218421	NM_001393986.1(PRDM2):c.4420G>A (p.Ala1474Thr)	LOC129929467, PRDM2 (A1273T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218420	NM_001393986.1(PRDM2):c.4187G>A (p.Arg1396Gln)	PRDM2 (R1195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218419	NM_001393986.1(PRDM2):c.3413T>C (p.Val1138Ala)	PRDM2 (V1138A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218418	NM_001393986.1(PRDM2):c.3257C>T (p.Ser1086Phe)	PRDM2 (S1086F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218417	NM_001393986.1(PRDM2):c.3254T>C (p.Val1085Ala)	PRDM2 (V1085A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218416	NM_001393986.1(PRDM2):c.3241A>G (p.Ile1081Val)	PRDM2 (I880V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218415	NM_001393986.1(PRDM2):c.3196T>C (p.Ser1066Pro)	PRDM2 (S1066P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218414	NM_001393986.1(PRDM2):c.2969T>G (p.Leu990Arg)	PRDM2 (L990R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218413	NM_001393986.1(PRDM2):c.2956C>T (p.Pro986Ser)	PRDM2 (P785S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218412	NM_001393986.1(PRDM2):c.2747G>A (p.Cys916Tyr)	PRDM2 (C715Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218411	NM_001393986.1(PRDM2):c.2597A>C (p.Lys866Thr)	PRDM2 (K866T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218410	NM_001393986.1(PRDM2):c.2333A>T (p.His778Leu)	PRDM2 (H577L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218409	NM_001393986.1(PRDM2):c.2324T>C (p.Leu775Ser)	PRDM2 (L574S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218408	NM_001393986.1(PRDM2):c.1889G>A (p.Gly630Asp)	PRDM2 (G630D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218407	NM_001393986.1(PRDM2):c.1787A>G (p.Tyr596Cys)	PRDM2 (Y395C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218406	NM_001393986.1(PRDM2):c.1765G>A (p.Glu589Lys)	PRDM2 (E388K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218405	NM_001393986.1(PRDM2):c.1701T>G (p.Asn567Lys)	PRDM2 (N366K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218404	NM_001393986.1(PRDM2):c.1672A>G (p.Ile558Val)	PRDM2 (I558V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218403	NM_001393986.1(PRDM2):c.1547G>A (p.Arg516Gln)	PRDM2 (R315Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218402	NM_001393986.1(PRDM2):c.1137G>A (p.Met379Ile)	PRDM2 (M178I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
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 2638290	NM_001393986.1(PRDM2):c.4758T>C (p.His1586=)	PRDM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638289	NM_001393986.1(PRDM2):c.3771AGA[2] (p.Glu1261del)	PRDM2 (E1060del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2638288	NM_001393986.1(PRDM2):c.2934G>A (p.Pro978=)	PRDM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619687	NM_001393986.1(PRDM2):c.5129A>G (p.Gln1710Arg)	PRDM2 (Q1710R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615701	NM_001393986.1(PRDM2):c.1975A>G (p.Met659Val)	PRDM2 (M458V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2613642	NM_001393986.1(PRDM2):c.5044C>T (p.Leu1682Phe)	PRDM2 (L1481F +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2613407	NM_001393986.1(PRDM2):c.208A>G (p.Lys70Glu)	PRDM2 (K70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607116	NM_001393986.1(PRDM2):c.1976T>C (p.Met659Thr)	PRDM2 (M458T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604883	NM_001393986.1(PRDM2):c.4951C>T (p.Arg1651Trp)	PRDM2 (R1651W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598568	NM_001393986.1(PRDM2):c.3875A>G (p.Asn1292Ser)	PRDM2 (N1091S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593905	NM_001393986.1(PRDM2):c.4594G>T (p.Gly1532Cys)	PRDM2 (G1331C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593711	NM_001393986.1(PRDM2):c.4837G>A (p.Val1613Met)	PRDM2 (V1412M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593710	NM_001393986.1(PRDM2):c.4831C>G (p.Leu1611Val)	PRDM2 (L1410V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557289	NM_001393986.1(PRDM2):c.4206G>T (p.Arg1402Ser)	PRDM2 (R1201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554176	NM_001393986.1(PRDM2):c.2432C>G (p.Ala811Gly)	PRDM2 (A811G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549527	NM_001393986.1(PRDM2):c.2735G>A (p.Ser912Asn)	PRDM2 (S711N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542895	NM_001393986.1(PRDM2):c.5054C>T (p.Ala1685Val)	PRDM2 (A1685V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532707	NM_001393986.1(PRDM2):c.1591G>A (p.Ala531Thr)	PRDM2 (A531T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529648	NM_001393986.1(PRDM2):c.939T>A (p.Asp313Glu)	PRDM2 (D112E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524469	NM_001393986.1(PRDM2):c.3073C>G (p.Pro1025Ala)	PRDM2 (P1025A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519315	NM_001393986.1(PRDM2):c.773C>T (p.Ala258Val)	PRDM2 (A57V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514237	NM_001393986.1(PRDM2):c.1228C>T (p.Arg410Trp)	PRDM2 (R209W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513207	NM_001393986.1(PRDM2):c.4540C>T (p.Arg1514Cys)	PRDM2 (R1313C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512426	NM_001393986.1(PRDM2):c.599C>G (p.Ala200Gly)	PRDM2 (A200G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2496095	NM_001393986.1(PRDM2):c.3176C>T (p.Ser1059Phe)	PRDM2 (S858F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489336	NM_001393986.1(PRDM2):c.897G>A (p.Met299Ile)	PRDM2 (M98I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489064	NM_001393986.1(PRDM2):c.1265A>G (p.Gln422Arg)	PRDM2 (Q422R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479265	NM_001393986.1(PRDM2):c.1702T>A (p.Tyr568Asn)	PRDM2 (Y367N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477829	NM_001393986.1(PRDM2):c.1298G>A (p.Gly433Asp)	PRDM2 (G232D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462240	NM_001393986.1(PRDM2):c.2786C>G (p.Pro929Arg)	PRDM2 (P728R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2412474	NM_001393986.1(PRDM2):c.4114C>T (p.Pro1372Ser)	PRDM2 (P1372S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406819	NM_001393986.1(PRDM2):c.1214G>A (p.Arg405Gln)	PRDM2 (R405Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400304	NM_001393986.1(PRDM2):c.4589C>G (p.Pro1530Arg)	PRDM2 (P1329R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395343	NM_001393986.1(PRDM2):c.754C>T (p.Pro252Ser)	PRDM2 (P252S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393288	NM_001393986.1(PRDM2):c.4487A>G (p.Lys1496Arg)	LOC129929467, PRDM2 (K1295R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383880	NM_001393986.1(PRDM2):c.3526G>C (p.Asp1176His)	PRDM2 (D1176H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373795	NM_001393986.1(PRDM2):c.4741A>G (p.Met1581Val)	PRDM2 (M1581V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367187	NM_001393986.1(PRDM2):c.4573C>G (p.Gln1525Glu)	PRDM2 (Q1324E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365899	NM_001393986.1(PRDM2):c.2858C>T (p.Thr953Ile)	PRDM2 (T953I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359576	NM_001393986.1(PRDM2):c.4798T>C (p.Ser1600Pro)	PRDM2 (S1399P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355435	NM_001393986.1(PRDM2):c.4250T>G (p.Leu1417Arg)	PRDM2 (L1417R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354038	NM_001393986.1(PRDM2):c.29C>T (p.Ala10Val)	LOC129929462, PRDM2 (A10V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2352318	NM_001393986.1(PRDM2):c.772G>A (p.Ala258Thr)	PRDM2 (A57T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350720	NM_001393986.1(PRDM2):c.946C>A (p.Pro316Thr)	PRDM2 (P115T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344579	NM_001393986.1(PRDM2):c.3008C>T (p.Ser1003Phe)	PRDM2 (S1003F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330626	NM_001393986.1(PRDM2):c.2173A>G (p.Met725Val)	PRDM2 (M524V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326343	NM_001393986.1(PRDM2):c.784G>A (p.Glu262Lys)	PRDM2 (E262K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324852	NM_001393986.1(PRDM2):c.4206G>C (p.Arg1402Ser)	PRDM2 (R1201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320879	NM_001393986.1(PRDM2):c.3182C>T (p.Ser1061Phe)	PRDM2 (S860F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316312	NM_001393986.1(PRDM2):c.3283C>A (p.Leu1095Ile)	PRDM2 (L1095I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316301	NM_001393986.1(PRDM2):c.616G>A (p.Ala206Thr)	PRDM2 (A5T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305647	NM_001393986.1(PRDM2):c.2150T>C (p.Val717Ala)	PRDM2 (V717A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305002	NM_001393986.1(PRDM2):c.4811C>T (p.Ser1604Phe)	PRDM2 (S1604F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301419	NM_001393986.1(PRDM2):c.1590G>C (p.Gln530His)	PRDM2 (Q530H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297292	NM_001393986.1(PRDM2):c.4333G>A (p.Asp1445Asn)	PRDM2 (D1445N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295491	NM_001393986.1(PRDM2):c.536A>T (p.Lys179Ile)	PRDM2 (K179I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2290365	NM_001393986.1(PRDM2):c.5095C>A (p.Gln1699Lys)	PRDM2 (Q1498K +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance

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