ClinVar for MedGen (Select 82783) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241262	NM_000497.4(CYP11B1):c.228del (p.Ile78fs)	CYP11B1 (I78fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 3241261	NM_000497.4(CYP11B1):c.1136del (p.Gly379fs)	CYP11B1, LOC106799833 (G379fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 3241260	NM_000497.4(CYP11B1):c.955-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681091	NM_000497.4(CYP11B1):c.360del (p.Arg120fs)	CYP11B1 (R120fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681090	NM_000497.4(CYP11B1):c.954+1del	CYP11B1, LOC106799833	Deletion (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681089	NM_000497.4(CYP11B1):c.1200+1G>T	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681088	NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)	CYP11B1, LOC106799833 (E361fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681087	NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)	CYP11B1, LOC106799833 (R384fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 2681085	NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)	CYP11B1, LOC106799833	Microsatellite (inframe insertion +1 more)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681084	NM_000497.4(CYP11B1):c.1399-1G>C	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681083	NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)	CYP11B1, LOC106799833 (F239fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681082	NM_000497.4(CYP11B1):c.1201-9C>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681081	NM_000497.4(CYP11B1):c.1122-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2674662	NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)	CYP11B1 (L423S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2674661	NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)	CYP11B1 (L375P)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 2674660	NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)	CYP11B1 (L340R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2674659	NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)	CYP11B1 (E310D)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 2674658	NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp)	CYP11B1 (G267D)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2674657	NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)	CYP11B1, LOC106799833 (G267R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2674655	NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)	CYP11B1	Indel (inframe_indel)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 2674654	NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu)	CYP11B1 (R141L)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2674653	NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)	CYP11B1 (N133K)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 2674652	NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)	CYP11B1 (G128fs)	Microsatellite (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 2674651	NM_000497.4(CYP11B1):c.359_363dup (p.His122fs)	CYP11B1 (H122fs)	Duplication (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 2627407	NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)	CYP11B1, LOC106799833 (Y266*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2627042	NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro)	LOC106799833, CYP11B1 (R208P)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 2582750	NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr)	CYP11B1, LOC106799833 (P250T)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 2582720	NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn)	CYP11B1, LOC106799833 (S281N)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 2373587	NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)	CYP11B1, LOC106799833 (P414A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2136710	NM_000497.4(CYP11B1):c.396-1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1726232	NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)	CYP11B1, LOC106799833 (N222fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1726111	NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)	CYP11B1, LOC106799833 (D317fs)	Duplication (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725957	NM_000497.4(CYP11B1):c.937del (p.Ala313fs)	CYP11B1, LOC106799833 (A313fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725926	NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)	CYP11B1, LOC106799833 (W137*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725783	NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)	CYP11B1, LOC106799833 (K232fs)	Indel (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725738	NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)	CYP11B1, LOC106799833 (K251fs)	Insertion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725479	NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)	CYP11B1, LOC106799833 (Q265fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725037	NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)	CYP11B1, LOC106799833 (K232*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1724743	NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)	CYP11B1, LOC106799833 (Q272*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1724295	NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)	CYP11B1, LOC106799833 (I271fs)	Insertion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1723935	NM_000497.4(CYP11B1):c.712dup (p.Met238fs)	CYP11B1, LOC106799833 (M238fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1698382	NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del)	CYP11B1, LOC106799833 (R404del)	Deletion (inframe_deletion +1 more)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1687594	NM_000497.4(CYP11B1):c.1385del (p.Leu462fs)	LOC106799833, CYP11B1 (L462fs)	Deletion (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 1687505	NM_000497.4(CYP11B1):c.1214del (p.Val405fs)	CYP11B1, LOC106799833 (V405fs)	Deletion (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 1687503	NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter)	CYP11B1, LOC106799833 (K305*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 1683257	NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	CYP11B1, LOC106799833 (R454fs)	Duplication (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 1594674	NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1592181	NM_000497.4(CYP11B1):c.799+17G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
Select item 1571198	NM_000497.4(CYP11B1):c.396-9C>T	LOC106799833, CYP11B1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1481332	NM_000497.4(CYP11B1):c.596-2A>T	LOC106799833, CYP11B1	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1460229	NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)	CYP11B1, LOC106799833 (Q285fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1459491	NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)	CYP11B1, LOC106799833 (R448C)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 1454795	NM_000497.4(CYP11B1):c.907del (p.Ala303fs)	CYP11B1, LOC106799833 (A303fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1412083	NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)	CYP11B1, LOC106799833 (Q265*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1403418	NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	CYP11B1, LOC106799833 (N394fs)	Duplication (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1384166	NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)	CYP11B1, LOC106799833 (S150*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1338281	NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)	CYP11B1, LOC106799833 (A153T)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GUncertain significance
Select item 1333300	NM_000497.4(CYP11B1):c.954+31G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 1264342	NM_000497.3:c.[1024C>T];[1012dup]			Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 1264341	NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln)	CYP11B1, LOC106799833 (R208Q)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 1264340	NM_000497.4(CYP11B1):c.1200+1del	CYP11B1, LOC106799833	Deletion (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1264339	NM_000497.4(CYP11B1):c.1201-1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant +1 more)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic/Likely pathogenic
Select item 1256566	NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)	CYP11B1, LOC106799833 (S300W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1239308	NM_000497.4(CYP11B1):c.800-45C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GBenign
Select item 1179123	NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	CYP11B1, LOC106799833 (A297V)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GLikely pathogenic
Select item 1142621	NM_000497.4(CYP11B1):c.948G>C (p.Val316=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1140566	NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)	CYP11B1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1130474	NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1120327	NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1116765	NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)	CYP11B1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1099048	NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1095297	NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1085751	NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1081537	NM_000497.4(CYP11B1):c.596-8C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1076260	NM_000497.4(CYP11B1):c.642_643del (p.His214fs)	CYP11B1, LOC106799833 (H214fs)	Microsatellite (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1073771	NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)	CYP11B1, LOC106799833 (R141*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic
Select item 1072465	NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	CYP11B1, LOC106799833 (S243fs)	Deletion (frameshift variant)	Congenital adrenal hyperplasia +3 more	GPathogenic/Likely pathogenic
Select item 1050514	NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)	CYP11B1, LOC110673972 (C10Y)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1030831	NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)	CYP11B1, LOC106799833 (R448P)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 995870	NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)	CYP11B1, LOC106799833 (D414fs +1 more)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 995869	NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)	CYP11B1, LOC106799833 (V316M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988378	NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs)	CYP11B1, LOC106799833 (P442fs)	Deletion (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 984082	NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)	CYP11B1, LOC106799833 (L142*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 984081	NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)	CYP11B1, LOC106799833 (Y275*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 984080	NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)	CYP11B1, LOC106799833 (Q284*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 973508	NM_000497.4(CYP11B1):c.596-41C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 973507	NM_000497.4(CYP11B1):c.239+20T>A	CYP11B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 948654	NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)	LOC106799833, CYP11B1 (G379V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 940650	NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter)	CYP11B1, LOC106799833 (Q338*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 912290	NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912289	NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)	CYP11B1, LOC106799833 (R181W)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 912288	NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)	CYP11B1, LOC106799833 (R181P)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 912228	NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)	CYP11B1, LOC106799833 (I304M)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 912157	NM_000497.4(CYP11B1):c.1200+11C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912092	NM_000497.4(CYP11B1):c.*390A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911986	NM_000497.4(CYP11B1):c.*1253G>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911927	NM_000497.4(CYP11B1):c.*1550C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911340	NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)	CYP11B1 (H69R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 911339	NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)	CYP11B1 (Q73R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911052	NM_000497.4(CYP11B1):c.595+14G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity

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