PRDM2[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	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 149960	GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1	FHAD1, FHAD1-AS1 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 150818	GRCh38/hg38 1p36.21(chr1:13686050-14463844)x3	KAZN, KAZN-AS1 +17 more	Copy number gain	See cases	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 2613407	NM_001393986.1(PRDM2):c.208A>G (p.Lys70Glu)	PRDM2 (K70E)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 2257528	NM_001393986.1(PRDM2):c.932G>A (p.Arg311Gln)	PRDM2 (R110Q +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 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 2232246	NM_001393986.1(PRDM2):c.979T>G (p.Ser327Ala)	PRDM2 (S126A +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 2219106	NM_001393986.1(PRDM2):c.1156G>A (p.Val386Ile)	PRDM2 (V185I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 2220084	NM_001393986.1(PRDM2):c.1924G>A (p.Ala642Thr)	PRDM2 (A441T +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 979162	NM_001393986.1(PRDM2):c.2107_2109dup (p.Pro703dup)	PRDM2	Duplication (inframe_insertion +1 more)	Low bone mineral density	GBenign
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 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 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 2222751	NM_001393986.1(PRDM2):c.2330G>C (p.Ser777Thr)	PRDM2 (S576T +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 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 2253822	NM_001393986.1(PRDM2):c.2486G>A (p.Gly829Asp)	PRDM2 (G628D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250472	NM_001393986.1(PRDM2):c.2488G>A (p.Val830Ile)	PRDM2 (V830I +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 2247383	NM_001393986.1(PRDM2):c.2698G>C (p.Asp900His)	PRDM2 (D699H +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 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 2212490	NM_001393986.1(PRDM2):c.2776G>T (p.Asp926Tyr)	PRDM2 (D725Y +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 716658	NM_001393986.1(PRDM2):c.2822C>T (p.Thr941Ile)	PRDM2 (T740I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2221093	NM_001393986.1(PRDM2):c.2888C>T (p.Pro963Leu)	PRDM2 (P762L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 403342	NM_001393986.1(PRDM2):c.3070T>A (p.Ser1024Thr)	PRDM2 (S1024T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 791148	NM_001393986.1(PRDM2):c.3188C>T (p.Ser1063Leu)	PRDM2 (S1063L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 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 2282811	NM_001393986.1(PRDM2):c.3325G>A (p.Gly1109Ser)	PRDM2 (G908S +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 2278217	NM_001393986.1(PRDM2):c.3524C>T (p.Thr1175Met)	PRDM2 (T1175M +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 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 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 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 2238877	NM_001393986.1(PRDM2):c.4171A>G (p.Lys1391Glu)	PRDM2 (K1190E +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 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 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 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 816819	NM_001393986.1(PRDM2):c.4283_4295del (p.Leu1428fs)	PRDM2 (L1227fs +1 more)	Deletion (frameshift variant +1 more)	Flexion contracture	GLikely pathogenic
Select item 2224721	NM_001393986.1(PRDM2):c.4331C>G (p.Ala1444Gly)	PRDM2 (A1444G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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