"Ambry Genetics"[submitter] AND "DOP1A"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2525032	NM_015018.4(DOP1A):c.1180A>G (p.Thr394Ala)	DOP1A (T385A +3 more)	Single nucleotide variant (missense variant +2 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 2606985	NM_015018.4(DOP1A):c.1426G>A (p.Val476Met)	DOP1A (V325M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521706	NM_015018.4(DOP1A):c.1441G>A (p.Asp481Asn)	DOP1A (D472N +3 more)	Single nucleotide variant (missense variant +2 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 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 2481289	NM_015018.4(DOP1A):c.1649C>G (p.Ala550Gly)	DOP1A (A550G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517364	NM_015018.4(DOP1A):c.1771A>G (p.Asn591Asp)	DOP1A (N430D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472481	NM_015018.4(DOP1A):c.1892T>C (p.Ile631Thr)	DOP1A (I470T +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 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 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 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 2493567	NM_015018.4(DOP1A):c.2421G>C (p.Gln807His)	DOP1A (Q798H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483884	NM_015018.4(DOP1A):c.2503G>C (p.Val835Leu)	DOP1A (V835L +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 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 2544197	NM_015018.4(DOP1A):c.2827C>A (p.Leu943Ile)	DOP1A (L668I +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 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 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 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 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 2486398	NM_015018.4(DOP1A):c.2992C>A (p.Leu998Ile)	DOP1A (L486I +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 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 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 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 2465082	NM_015018.4(DOP1A):c.3267T>G (p.Ile1089Met)	DOP1A (I1089M +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 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 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 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 2480475	NM_015018.4(DOP1A):c.3670G>A (p.Gly1224Ser)	DOP1A (G1214S +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 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 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 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 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 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 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 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 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 2513705	NM_015018.4(DOP1A):c.4523C>T (p.Ala1508Val)	DOP1A (A1233V +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 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 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 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
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 2553829	NM_015018.4(DOP1A):c.4762A>G (p.Arg1588Gly)	DOP1A (R1313G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458224	NM_015018.4(DOP1A):c.4844A>G (p.Glu1615Gly)	DOP1A (E1605G +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 2533338	NM_015018.4(DOP1A):c.5064A>C (p.Arg1688Ser)	DOP1A (R1678S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476784	NM_015018.4(DOP1A):c.5065A>G (p.Asn1689Asp)	DOP1A (N1679D +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 2536946	NM_015018.4(DOP1A):c.5290A>G (p.Ile1764Val)	DOP1A (I1603V +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 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 2529130	NM_015018.4(DOP1A):c.5389A>G (p.Thr1797Ala)	DOP1A (T1522A +5 more)	Single nucleotide variant (missense variant +1 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 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 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 2513759	NM_015018.4(DOP1A):c.6023G>A (p.Gly2008Glu)	DOP1A, PGM3 (G1733E +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 2547733	NM_015018.4(DOP1A):c.6088C>A (p.Pro2030Thr)	DOP1A, PGM3 (P2030T +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 2480442	NM_015018.4(DOP1A):c.6379T>C (p.Cys2127Arg)	DOP1A, PGM3 (C1852R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570231	NM_015018.4(DOP1A):c.6395G>A (p.Arg2132Lys)	DOP1A, PGM3 (R1620K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482077	NM_015018.4(DOP1A):c.6455G>A (p.Arg2152His)	DOP1A, PGM3 (R1877H +5 more)	Single nucleotide variant (missense variant +1 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 2494847	NM_015018.4(DOP1A):c.6865T>C (p.Tyr2289His)	DOP1A, PGM3 (Y1777H +4 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 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 2527672	NM_015018.4(DOP1A):c.7168G>A (p.Val2390Met)	DOP1A, PGM3 (V2381M +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1347786	NM_015599.3(PGM3):c.1554C>A (p.His518Gln)	DOP1A, PGM3 (H518Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1022643	NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)	PGM3, DOP1A (R424* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 646876	NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)	DOP1A, PGM3 (V532I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 944987	NM_015599.3(PGM3):c.1466A>G (p.Lys489Arg)	PGM3, DOP1A (K408R +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GConflicting classifications of pathogenicity
Select item 2072198	NM_015599.3(PGM3):c.1381G>C (p.Val461Leu)	DOP1A, PGM3 (V420L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23 +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86