ClinVar for Gene (Select 23033) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339141	NM_015599.3(PGM3):c.1391C>T (p.Thr464Ile)	DOP1A, PGM3 (T383I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306015	NM_015599.3(PGM3):c.1606G>A (p.Glu536Lys)	DOP1A, PGM3 (E495K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3273516	NM_015018.4(DOP1A):c.1535G>A (p.Arg512Lys)	DOP1A (R237K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273515	NM_015018.4(DOP1A):c.3214G>A (p.Val1072Met)	DOP1A (V797M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273514	NM_015018.4(DOP1A):c.5077C>G (p.Leu1693Val)	DOP1A (L1181V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273513	NM_015018.4(DOP1A):c.5102C>T (p.Thr1701Ile)	DOP1A (T1426I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273512	NM_015018.4(DOP1A):c.3490C>G (p.Leu1164Val)	DOP1A (L1155V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273511	NM_015018.4(DOP1A):c.2489A>T (p.Glu830Val)	DOP1A (E318V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273510	NM_015018.4(DOP1A):c.3841T>A (p.Ser1281Thr)	DOP1A (S1006T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273508	NM_015018.4(DOP1A):c.6761T>A (p.Met2254Lys)	DOP1A, PGM3 (M2058K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273507	NM_015018.4(DOP1A):c.7061G>T (p.Arg2354Leu)	DOP1A, PGM3 (R2344L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273506	NM_015018.4(DOP1A):c.4042G>A (p.Asp1348Asn)	DOP1A (D1187N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273505	NM_015018.4(DOP1A):c.5559T>G (p.Ser1853Arg)	DOP1A (S1844R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273504	NM_015018.4(DOP1A):c.3919G>T (p.Asp1307Tyr)	DOP1A (D1307Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273503	NM_015018.4(DOP1A):c.2416G>A (p.Val806Ile)	DOP1A (V531I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085270	NM_015018.4(DOP1A):c.996G>T (p.Met332Ile)	DOP1A (M181I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085269	NM_015018.4(DOP1A):c.962C>T (p.Thr321Ile)	DOP1A (T170I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085268	NM_015018.4(DOP1A):c.788G>A (p.Arg263Gln)	DOP1A (R112Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085267	NM_015018.4(DOP1A):c.6887A>G (p.Asn2296Ser)	DOP1A, PGM3 (N1784S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085266	NM_015018.4(DOP1A):c.6790A>G (p.Ile2264Val)	DOP1A, PGM3 (I1752V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085265	NM_015018.4(DOP1A):c.6127G>A (p.Glu2043Lys)	DOP1A, PGM3 (E1847K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085264	NM_015018.4(DOP1A):c.6074C>A (p.Thr2025Asn)	DOP1A, PGM3 (T2015N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085263	NM_015018.4(DOP1A):c.6004C>A (p.Pro2002Thr)	DOP1A, PGM3 (P1490T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085262	NM_015018.4(DOP1A):c.5981G>A (p.Arg1994Gln)	DOP1A, PGM3 (R1719Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085261	NM_015018.4(DOP1A):c.575G>T (p.Ser192Ile)	DOP1A (S74I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085260	NM_015018.4(DOP1A):c.5552C>T (p.Ala1851Val)	DOP1A (A1842V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085259	NM_015018.4(DOP1A):c.5380G>A (p.Ala1794Thr)	DOP1A (A1519T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085258	NM_015018.4(DOP1A):c.5374G>A (p.Ala1792Thr)	DOP1A (A1517T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085257	NM_015018.4(DOP1A):c.5215A>G (p.Thr1739Ala)	DOP1A (T1227A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085256	NM_015018.4(DOP1A):c.5018A>G (p.Lys1673Arg)	DOP1A (K1512R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085255	NM_015018.4(DOP1A):c.4693A>G (p.Ile1565Val)	DOP1A (I1053V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085254	NM_015018.4(DOP1A):c.4631G>C (p.Ser1544Thr)	DOP1A (S1269T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085253	NM_015018.4(DOP1A):c.458C>G (p.Pro153Arg)	DOP1A (P35R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085251	NM_015018.4(DOP1A):c.4592G>A (p.Cys1531Tyr)	DOP1A (C1256Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085250	NM_015018.4(DOP1A):c.4550A>T (p.Asp1517Val)	DOP1A (D1242V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085249	NM_015018.4(DOP1A):c.4454T>C (p.Met1485Thr)	DOP1A (M1210T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085248	NM_015018.4(DOP1A):c.4426G>A (p.Ala1476Thr)	DOP1A (A1467T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085247	NM_015018.4(DOP1A):c.4210T>G (p.Ser1404Ala)	DOP1A (S1243A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085246	NM_015018.4(DOP1A):c.4006A>T (p.Ser1336Cys)	DOP1A (S824C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085245	NM_015018.4(DOP1A):c.3977G>A (p.Ser1326Asn)	DOP1A (S814N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085244	NM_015018.4(DOP1A):c.3956A>G (p.Lys1319Arg)	DOP1A (K1309R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085243	NM_015018.4(DOP1A):c.3842C>T (p.Ser1281Leu)	DOP1A (S1006L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085242	NM_015018.4(DOP1A):c.3829T>C (p.Ser1277Pro)	DOP1A (S1268P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085241	NM_015018.4(DOP1A):c.3745C>G (p.His1249Asp)	DOP1A (H1239D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085240	NM_015018.4(DOP1A):c.3544C>A (p.Pro1182Thr)	DOP1A (P1021T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085239	NM_015018.4(DOP1A):c.3538A>G (p.Met1180Val)	DOP1A (M1019V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085238	NM_015018.4(DOP1A):c.3485G>A (p.Ser1162Asn)	DOP1A (S1152N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085237	NM_015018.4(DOP1A):c.3484A>G (p.Ser1162Gly)	DOP1A (S1162G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085236	NM_015018.4(DOP1A):c.3201C>G (p.Asn1067Lys)	DOP1A (N1067K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085235	NM_015018.4(DOP1A):c.3194T>C (p.Ile1065Thr)	DOP1A (I904T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085234	NM_015018.4(DOP1A):c.3124A>G (p.Ser1042Gly)	DOP1A (S881G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085233	NM_015018.4(DOP1A):c.3038G>A (p.Arg1013His)	DOP1A (R1004H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085232	NM_015018.4(DOP1A):c.2989T>G (p.Leu997Val)	DOP1A (L722V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085231	NM_015018.4(DOP1A):c.2975G>A (p.Arg992Gln)	DOP1A (R480Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085230	NM_015018.4(DOP1A):c.2949A>C (p.Gln983His)	DOP1A (Q471H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085229	NM_015018.4(DOP1A):c.2873C>T (p.Ser958Leu)	DOP1A (S797L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085228	NM_015018.4(DOP1A):c.2861C>G (p.Ser954Cys)	DOP1A (S442C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085226	NM_015018.4(DOP1A):c.2523A>T (p.Leu841Phe)	DOP1A (L329F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085225	NM_015018.4(DOP1A):c.2267A>C (p.Glu756Ala)	DOP1A (E746A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085224	NM_015018.4(DOP1A):c.2156C>T (p.Ser719Leu)	DOP1A (S709L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085223	NM_015018.4(DOP1A):c.1985C>T (p.Ala662Val)	DOP1A (A150V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085222	NM_015018.4(DOP1A):c.1916A>C (p.Glu639Ala)	DOP1A (E127A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085221	NM_015018.4(DOP1A):c.1579T>C (p.Ser527Pro)	DOP1A (S517P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085220	NM_015018.4(DOP1A):c.1575C>G (p.His525Gln)	DOP1A (H250Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085219	NM_015018.4(DOP1A):c.1396G>A (p.Glu466Lys)	DOP1A (E201K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3049258	NM_015599.3(PGM3):c.*2758T>G	DOP1A, PGM3	Single nucleotide variant (3 prime UTR variant +1 more)	PGM3-related disorder	GLikely benign
Select item 3023731	NM_015599.3(PGM3):c.1518A>G (p.Val506=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2983990	NM_015599.3(PGM3):c.1539+16T>G	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2919133	NM_015599.3(PGM3):c.1585C>T (p.Gln529Ter)	DOP1A, PGM3 (Q529* +2 more)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2899787	NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)	DOP1A, PGM3 (N441fs +3 more)	Duplication (non-coding transcript variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2893402	NM_015599.3(PGM3):c.1398T>C (p.Asp466=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2874488	NM_015599.3(PGM3):c.1450C>T (p.Leu484=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2867318	NM_015599.3(PGM3):c.1377G>A (p.Arg459=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2865798	NM_015599.3(PGM3):c.1405A>C (p.Arg469=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2855863	NM_015599.3(PGM3):c.1548A>G (p.Ala516=)	DOP1A, PGM3 (R437G)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2854157	NM_015599.3(PGM3):c.1587G>A (p.Gln529=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2844534	NM_015599.3(PGM3):c.1485C>T (p.Val495=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2833911	NM_015599.3(PGM3):c.1539+17C>G	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2821706	NM_015599.3(PGM3):c.1540-10T>C	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2802225	NM_015599.3(PGM3):c.1371A>G (p.Ala457=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2801507	NM_015599.3(PGM3):c.1512C>T (p.Val504=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2798587	NM_015599.3(PGM3):c.1557T>C (p.Leu519=)	DOP1A, PGM3 (C440R)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2798177	NM_015599.3(PGM3):c.1545T>C (p.Ser515=)	DOP1A, PGM3 (C436R)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2796095	NM_015599.3(PGM3):c.1540-16T>C	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2788440	NM_015599.3(PGM3):c.1389C>T (p.Ser463=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2787554	NM_015599.3(PGM3):c.1594G>A (p.Gly532Arg)	DOP1A, PGM3 (G532R +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2771825	NM_015599.3(PGM3):c.1474C>A (p.Arg492=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2754869	NM_015599.3(PGM3):c.1506T>C (p.Asp502=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2754868	NM_015599.3(PGM3):c.1527A>G (p.Glu509=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2741108	NM_015599.3(PGM3):c.1509C>T (p.Val503=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2730961	NM_015599.3(PGM3):c.1617A>G (p.Gln539=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2707173	NM_015599.3(PGM3):c.1540-4G>T	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2693235	NM_015599.3(PGM3):c.1500AGA[1] (p.Glu501del)	DOP1A, PGM3 (E501del +3 more)	Microsatellite (non-coding transcript variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2656727	NM_015018.4(DOP1A):c.6130-8T>C	DOP1A, PGM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656726	NM_015018.4(DOP1A):c.1966G>A (p.Val656Ile)	DOP1A (V495I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2620827	NM_015018.4(DOP1A):c.485A>C (p.Tyr162Ser)	DOP1A (Y44S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613216	NM_015018.4(DOP1A):c.6892T>C (p.Tyr2298His)	DOP1A, PGM3 (Y2298H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611858	NM_015018.4(DOP1A):c.2588A>G (p.Tyr863Cys)	DOP1A (Y702C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611418	NM_015018.4(DOP1A):c.560G>A (p.Gly187Asp)	DOP1A (G69D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608877	NM_015018.4(DOP1A):c.4643C>T (p.Ala1548Val)	DOP1A (A1387V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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