ClinVar for MedGen (Select 862830) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664078	NM_004415.4(DSP):c.422+1G>A	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely pathogenic
Select item 2628093	NM_004415.4(DSP):c.2290_2291dup (p.Leu764fs)	DSP (L764fs)	Duplication (frameshift variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	GLikely pathogenic
Select item 1748977	NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT	DSP	Indel (genic downstream transcript variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1674356	NM_004415.4(DSP):c.939+19G>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GLikely benign
Select item 1598473	NM_004415.4(DSP):c.1983T>C (p.Asn661=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1523958	NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)	DSP (Y2720F +2 more)	Single nucleotide variant (missense variant)	Keratosis palmoplantaris striata 2 +5 more	GConflicting classifications of pathogenicity
Select item 1500028	NM_004415.4(DSP):c.1483G>T (p.Val495Leu)	DSP (V495L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GUncertain significance
Select item 1444393	NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys)	DSP (R2231C +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GUncertain significance
Select item 1444113	NM_004415.4(DSP):c.727C>T (p.Arg243Cys)	DSP (R243C)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +5 more	GUncertain significance
Select item 1443960	NM_004415.4(DSP):c.694C>T (p.Arg232Cys)	DSP (R232C)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +5 more	GConflicting classifications of pathogenicity
Select item 1420375	NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)	DSP (F856L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 1348456	NM_004415.4(DSP):c.2872A>G (p.Ile958Val)	DSP (I958V)	Single nucleotide variant (missense variant)	Keratosis palmoplantaris striata 2 +5 more	GConflicting classifications of pathogenicity
Select item 1339298	NM_004415.4(DSP):c.2962C>T (p.Pro988Ser)	DSP (P988S)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1332109	NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)	DSP (D875N)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 1172188	NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)	DSP (R1634L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GUncertain significance
Select item 1171598	NM_004415.4(DSP):c.2153C>T (p.Ala718Val)	DSP (A718V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 1171311	NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)	DSP (A1001S)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1066406	NM_004415.4(DSP):c.170+1G>A	DSP, DSP-AS1	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GLikely pathogenic
Select item 1060837	NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)	DSP (S2257T +2 more)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +5 more	GConflicting classifications of pathogenicity
Select item 1060668	NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)	DSP (S1520G)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1041857	NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)	DSP (S987T)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +6 more	GConflicting classifications of pathogenicity
Select item 1038280	NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys)	DSP (E1319K +2 more)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +5 more	GUncertain significance
Select item 1018875	NM_004415.4(DSP):c.8172G>T (p.Gln2724His)	DSP (Q2125H +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 1012339	NM_004415.4(DSP):c.5428del (p.Gln1810fs)	DSP (Q1211fs +2 more)	Deletion (frameshift variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	GLikely pathogenic
Select item 1012338	NM_004415.4(DSP):c.748C>T (p.Gln250Ter)	DSP (Q250*)	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	GPathogenic
Select item 1008138	NM_004415.4(DSP):c.6002T>A (p.Val2001Glu)	DSP (V1402E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +5 more	GUncertain significance
Select item 1006139	NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)	DSP (K427E)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 975011	NM_004415.4(DSP):c.308G>A (p.Arg103Gln)	DSP (R103Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 965292	NM_004415.4(DSP):c.8050A>G (p.Met2684Val)	DSP (M2241V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +7 more	GConflicting classifications of pathogenicity
Select item 965204	NM_004415.4(DSP):c.740C>T (p.Ala247Val)	DSP (A247V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 959135	NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)	DSP (L2203F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 956447	NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)	DSP (K1228N)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 949785	NM_004415.4(DSP):c.178G>A (p.Gly60Ser)	DSP (G60S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 937557	NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)	DSP (D1733N)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 934946	NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)	DSP (E2268D +2 more)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +6 more	GConflicting classifications of pathogenicity
Select item 927441	NM_004415.4(DSP):c.647A>C (p.Gln216Pro)	DSP (Q216P)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +7 more	GUncertain significance
Select item 927361	NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)	DSP (T2657I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 927207	NM_004415.4(DSP):c.5933T>C (p.Met1978Thr)	DSP (M1379T +2 more)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +6 more	GUncertain significance
Select item 927141	NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)	DSP (Q473R)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +6 more	GUncertain significance
Select item 926070	NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)	DSP (R1411S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 925427	NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)	DSP (S1623P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 925425	NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)	DSP (F379I)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 925155	NM_004415.4(DSP):c.5795G>A (p.Arg1932His)	DSP (R1333H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 924927	NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)	DSP (E1109K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 924874	NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)	DSP (Y1717C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 924608	NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)	DSP (S2390C +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 923573	NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)	DSP (E721K)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 923532	NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)	DSP (I1916V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 923074	NM_004415.4(DSP):c.5116C>T (p.Leu1706=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GLikely benign
Select item 922929	NM_004415.4(DSP):c.104G>C (p.Gly35Ala)	DSP, DSP-AS1 (G35A)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 922465	NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)	DSP (F2421L +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 922453	NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)	DSP (I2150S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 922374	NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)	DSP (N1728D +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 922290	NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)	DSP (N339S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 922143	NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)	DSP (D1248N)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 922114	NM_004415.4(DSP):c.6441C>A (p.Val2147=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GLikely benign
Select item 922019	NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)	DSP (A1576T +2 more)	Single nucleotide variant (missense variant)	Keratosis palmoplantaris striata 2 +6 more	GConflicting classifications of pathogenicity
Select item 921280	NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)	DSP (S1708F)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 920798	NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)	DSP (T969I)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 920685	NM_004415.4(DSP):c.7599T>C (p.Ala2533=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GLikely benign
Select item 920654	NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)	DSP (L1007F)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 920588	NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)	DSP (T2152I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 920276	NM_004415.4(DSP):c.4914C>T (p.Asp1638=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +7 more	GLikely benign
Select item 919941	NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)	DSP (I814T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 919429	NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)	DSP (S1361R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 919252	NM_004415.4(DSP):c.2631-13dup	DSP	Duplication (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 919144	NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)	DSP (M1448I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 918969	NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)	DSP (S1588del)	Deletion (intron variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 918884	NM_004415.4(DSP):c.3864G>A (p.Lys1288=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GLikely benign
Select item 918830	NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)	DSP (Y1560F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 918356	NM_004415.4(DSP):c.685G>A (p.Gly229Ser)	DSP (G229S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 910568	NM_004415.4(DSP):c.314G>A (p.Arg105Gln)	DSP (R105Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 910508	NM_004415.4(DSP):c.-70C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GUncertain significance
Select item 860693	NM_004415.4(DSP):c.1534A>G (p.Ile512Val)	DSP (I512V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 860184	NM_004415.4(DSP):c.526A>G (p.Ser176Gly)	DSP (S176G)	Single nucleotide variant (missense variant)	Keratosis palmoplantaris striata 2 +5 more	GUncertain significance
Select item 858023	NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)	DSP (R1002P)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 855961	NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)	DSP (T2595A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 854636	NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)	DSP (L1600F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 850388	NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)	DSP (V1639G)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GUncertain significance
Select item 840597	NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)	DSP (G2235S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GUncertain significance
Select item 840093	NM_004415.4(DSP):c.677A>G (p.Asn226Ser)	DSP (N226S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 838465	NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)	DSP (R677K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 838079	NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)	DSP (N1215S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 759546	NM_004415.4(DSP):c.1443G>A (p.Glu481=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GLikely benign
Select item 699815	NM_004415.4(DSP):c.888C>T (p.Tyr296=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GLikely benign
Select item 691717	NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)	DSP (D1541N)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 691716	NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)	DSP (R1302C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 684783	NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)	DSP (R1255K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +8 more	GUncertain significance
Select item 664645	NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)	DSP (T1368I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 659134	NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)	DSP (R606W)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 655888	NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)	DSP (D782G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 655661	NM_004415.4(DSP):c.1960G>A (p.Val654Ile)	DSP (V654I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 648241	NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)	DSP (G1102S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 645816	NM_004415.4(DSP):c.38C>T (p.Thr13Ile)	DSP, DSP-AS1 (T13I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 644012	NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)	DSP (I1612T)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GUncertain significance
Select item 642208	NM_004415.4(DSP):c.1730T>C (p.Met577Thr)	DSP (M577T)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 640770	NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)	DSP (L709F)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +8 more	GConflicting classifications of pathogenicity
Select item 632789	NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)	DSP (T1373I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 629400	NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)	DSP (S442A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 629391	NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)	DSP (K1288R)	Single nucleotide variant (missense variant +1 more)	Woolly hair-skin fragility syndrome +6 more	GConflicting classifications of pathogenicity

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