ClinVar for MedGen (Select 318833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953763	NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2953727	NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)	CHMP2B (N127D +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2948126	NM_014043.4(CHMP2B):c.532-14A>G	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2947789	NM_014043.4(CHMP2B):c.34+6T>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2944135	NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)	CHMP2B (T156A +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2941625	NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)	CHMP2B (R237L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2936387	NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)	CHMP2B (K80E +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2933601	NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)	CHMP2B (I60V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2933304	NM_014043.4(CHMP2B):c.34+14C>G	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2932285	NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)	CHMP2B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2929767	NM_014043.4(CHMP2B):c.531+14C>A	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2921536	NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)	CHMP2B (S142* +2 more)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2688776	NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)	CHMP2B (G23S +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2416817	NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)	CHMP2B (D107del +2 more)	Microsatellite (inframe_deletion +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2173497	NM_014043.4(CHMP2B):c.127-7C>T	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2165162	NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2159742	NM_014043.4(CHMP2B):c.424+20A>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2096563	NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)	CHMP2B (K18E +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GUncertain significance
Select item 2085044	NM_014043.4(CHMP2B):c.180T>G (p.Val60=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2077387	NM_014043.4(CHMP2B):c.321+10A>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2073689	NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2041165	NM_014043.4(CHMP2B):c.535del (p.Ala179fs)	CHMP2B (A179fs +1 more)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2038146	NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)	CHMP2B (T24I +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2037225	NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2006391	NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)	CHMP2B (G170A +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1962709	NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)	CHMP2B (T48fs +1 more)	Microsatellite (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1717146	NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)	CHMP2B (T121I +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1716890	NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)	CHMP2B (D11V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1716364	NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)	CHMP2B (M117V +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1668858	NM_014043.4(CHMP2B):c.219G>A (p.Thr73=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1636304	NM_014043.4(CHMP2B):c.315A>C (p.Thr105=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1624217	NM_014043.4(CHMP2B):c.234A>C (p.Val78=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1604555	NM_014043.4(CHMP2B):c.21G>A (p.Lys7=)	CHMP2B	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1584830	NM_014043.4(CHMP2B):c.424+19_424+21del	CHMP2B	Deletion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1512209	NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp)	CHMP2B (A185D +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1508277	NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)	CHMP2B (V10M)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1491936	NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)	CHMP2B (N102D +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1477866	NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)	CHMP2B (M96T +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1462278	NM_014043.4(CHMP2B):c.532-3T>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1434414	NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)	CHMP2B (R30S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1431140	NM_014043.4(CHMP2B):c.315A>G (p.Thr105=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1430692	NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)	CHMP2B (T83I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1411771	NC_000003.11:g.(?_87276673)_(87325612_?)del	CHMP2B, POU1F1	Deletion	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1403282	NM_014043.4(CHMP2B):c.126+4A>G	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1392585	NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)	CHMP2B (N72K +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1385104	NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)	CHMP2B (R28W +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GUncertain significance
Select item 1376594	NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)	CHMP2B (P182L +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1366006	NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)	CHMP2B (R205Q +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GUncertain significance
Select item 1361744	NM_014043.4(CHMP2B):c.321+3A>G	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1333970	NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)	CHMP2B (M100I +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1333969	NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)	CHMP2B (M100V +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1307577	NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)	CHMP2B (K22E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GUncertain significance
Select item 1210544	NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)	CHMP2B (R32*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1157453	NM_014043.4(CHMP2B):c.424+10A>G	CHMP2B	Single nucleotide variant (intron variant)	CHMP2B-related disorder +1 more	GLikely benign
Select item 1132748	NM_014043.4(CHMP2B):c.453C>T (p.Asp151=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1092384	NM_014043.4(CHMP2B):c.474A>G (p.Glu158=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1048977	NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)	CHMP2B (R30G)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1037550	NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp)	CHMP2B (R164W +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 948982	NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)	CHMP2B (K18R +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 903027	NM_014043.4(CHMP2B):c.*1647A>G	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 903026	NM_014043.4(CHMP2B):c.*1610C>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 902969	NM_014043.4(CHMP2B):c.*626A>G	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 902968	NM_014043.4(CHMP2B):c.*121G>A	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 902967	NM_014043.4(CHMP2B):c.531+8C>T	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GConflicting classifications of pathogenicity
Select item 902146	NM_014043.4(CHMP2B):c.*1516C>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 902145	NM_014043.4(CHMP2B):c.*1482T>A	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 902089	NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 902088	NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)	CHMP2B (R19Q)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GConflicting classifications of pathogenicity
Select item 901455	NM_014043.4(CHMP2B):c.-34G>A	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 901454	NM_014043.4(CHMP2B):c.-144C>T	CHMP2B	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 900481	NM_014043.4(CHMP2B):c.*1421C>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 900480	NM_014043.4(CHMP2B):c.*1414T>C	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 900479	NM_014043.4(CHMP2B):c.*1255G>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 900413	NM_014043.4(CHMP2B):c.*1080C>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 900412	NM_014043.4(CHMP2B):c.*901T>C	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 900411	NM_014043.4(CHMP2B):c.*744C>A	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 900410	NM_014043.4(CHMP2B):c.*718C>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 872081	NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)	CHMP2B (R28Q +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 858063	NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)	CHMP2B (K90E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 786504	NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)	CHMP2B	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GLikely benign
Select item 712214	NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)	CHMP2B (K14Q +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 704339	NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)	CHMP2B (R22*)	Single nucleotide variant (nonsense +1 more)	CHMP2B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 704275	NM_014043.4(CHMP2B):c.35-7C>T	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GBenign
Select item 581214	NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)	CHMP2B (S194L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 346826	NM_014043.4(CHMP2B):c.*1589G>A	CHMP2B, POU1F1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 346825	NM_014043.4(CHMP2B):c.*1588C>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 346824	NM_014043.4(CHMP2B):c.*1503G>C	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia +1 more	GBenign/Likely benign
Select item 346823	NM_014043.4(CHMP2B):c.*1422G>A	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 346822	NM_014043.4(CHMP2B):c.*1408A>G	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 346821	NM_014043.4(CHMP2B):c.*1376G>C	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 346820	NM_014043.4(CHMP2B):c.*1190G>T	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia +1 more	GBenign/Likely benign
Select item 346819	NM_014043.4(CHMP2B):c.*1071A>G	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 346817	NM_014043.4(CHMP2B):c.*968G>A	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 346814	NM_014043.4(CHMP2B):c.*864G>A	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 346813	NM_014043.4(CHMP2B):c.*836T>C	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign
Select item 346812	NM_014043.4(CHMP2B):c.*602T>G	CHMP2B	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 346811	NM_014043.4(CHMP2B):c.*231T>C	CHMP2B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 346808	NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign/Likely benign
Select item 346807	NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign/Likely benign
Select item 346806	NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)	CHMP2B (T73M +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GConflicting classifications of pathogenicity

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