C3887523[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557558	NC_000017.11:g.7217174G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 180253	NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val)	ACADVL, DLG4 (I18V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 550604	NM_001270447.2(ACADVL):c.55GAAGCA[3] (p.Ala22_Gln23insGluAla)	ACADVL, DLG4	Microsatellite (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 550899	NM_000018.3(ACADVL):c.-2231C>T	ACADVL, DLG4 (Q23*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557044	NM_000018.3(ACADVL):c.-2216C>T	ACADVL, DLG4 (Q28*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553100	NM_000018.3(ACADVL):c.-2209G>A	ACADVL, DLG4 (W30*)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 549973	NM_001270447.2(ACADVL):c.111_116dup (p.Thr39_Ala40insMetThr)	ACADVL, DLG4	Duplication (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557073	NM_001270447.2(ACADVL):c.116_120del (p.Thr39fs)	ACADVL, DLG4 (T39fs)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552975	NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG	ACADVL, DLG4	Insertion (genic upstream transcript variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552762	NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 558231	NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 555749	NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 554697	NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552316	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553169	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555349	NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	ACADVL, DLG4 (M1I)	Single nucleotide variant (5 prime UTR variant +4 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552503	NM_000018.4(ACADVL):c.16_32del (p.Met6fs)	ACADVL, DLG4 (M6fs)	Deletion (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 557638	NM_000018.4(ACADVL):c.33del (p.Arg12fs)	ACADVL, DLG4 (R12fs)	Deletion (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 432072	NM_000018.4(ACADVL):c.62+6T>C	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 555795	NM_000018.4(ACADVL):c.62+9G>A	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 555421	NM_000018.4(ACADVL):c.62+10del	ACADVL	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 555394	NM_000018.4(ACADVL):c.62+18G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 439362	NM_000018.4(ACADVL):c.63-31C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 555135	NM_000018.4(ACADVL):c.63-18A>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 550622	NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	ACADVL, LOC130060113 (R37fs +1 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 550796	NM_000018.4(ACADVL):c.138+1G>A	ACADVL, LOC130060113	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 449935	NM_000018.4(ACADVL):c.138+2dup	ACADVL, LOC130060113	Duplication (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 370856	NM_000018.4(ACADVL):c.138+2T>C	ACADVL, LOC130060113	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 555679	NM_000018.4(ACADVL):c.139-3C>T	ACADVL	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 553583	NM_000018.4(ACADVL):c.192del (p.Lys64fs)	ACADVL (K87fs +1 more)	Deletion (frameshift variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 553361	NM_000018.4(ACADVL):c.204+5G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 556113	NM_000018.4(ACADVL):c.204+15G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 551585	NM_000018.4(ACADVL):c.204+31dup	ACADVL	Duplication (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 324984	NM_000018.4(ACADVL):c.205-8C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 553012	NM_000018.4(ACADVL):c.205-5C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 554006	NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	ACADVL (G76E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 551606	NM_000018.4(ACADVL):c.230T>C (p.Met77Thr)	ACADVL (M77T +3 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552315	NM_000018.4(ACADVL):c.251_252del (p.Thr84fs)	ACADVL (T84fs +3 more)	Microsatellite (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 551978	NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)	ACADVL (Q86* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552361	NM_000018.4(ACADVL):c.266del (p.Pro89fs)	ACADVL (P89fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 550795	NM_000018.4(ACADVL):c.277+1del	ACADVL	Deletion (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 371107	NM_000018.4(ACADVL):c.277+1G>T	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 556238	NM_000018.4(ACADVL):c.277+2T>G	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 555680	NM_000018.4(ACADVL):c.277+24T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 555519	NM_000018.4(ACADVL):c.277+27del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 555507	NM_000018.4(ACADVL):c.278-39C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 555839	NM_000018.4(ACADVL):c.278-8C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 189116	NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	ACADVL (Q123fs +3 more)	Microsatellite (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 557072	NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)	ACADVL (Q100fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 371068	NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	ACADVL (K81fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 552582	NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del)	ACADVL	Deletion (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 555740	NM_000018.4(ACADVL):c.342+14C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 555732	NM_000018.4(ACADVL):c.342+15G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 555796	NM_000018.4(ACADVL):c.342+16G>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 556114	NM_000018.4(ACADVL):c.342+25C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 555497	NM_000018.4(ACADVL):c.343-41C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 551084	NM_000018.4(ACADVL):c.343-23G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1624	NM_000018.4(ACADVL):c.343del	ACADVL	Deletion (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1626	NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	ACADVL (E130del +3 more)	Microsatellite (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 558732	NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)	ACADVL (W133* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 422995	NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	ACADVL (G143fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 189159	NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	ACADVL (Q145* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 557575	NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)	ACADVL (P147S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 371257	NM_000018.4(ACADVL):c.478-1G>C	ACADVL	Single nucleotide variant (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 203572	NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)	ACADVL (A161V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 370277	NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	ACADVL (I144fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 92286	NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	ACADVL (V174M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203573	NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)	ACADVL (G179W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 166641	NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	ACADVL (A180T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 432108	NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)	ACADVL (G193D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 554491	NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	ACADVL (Y201* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 551588	NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	ACADVL (S207P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 555910	NM_000018.4(ACADVL):c.623-2_623-1del	ACADVL	Deletion (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 541723	NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)	ACADVL (F214V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 370717	NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	ACADVL	Deletion (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 92289	NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	ACADVL (G222R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 188884	NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	ACADVL (R229* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 495345	NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	ACADVL (C161fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 553167	NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)	ACADVL (K247E +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 555798	NM_000018.4(ACADVL):c.752+24C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 557216	NM_000018.4(ACADVL):c.759_761del (p.Gly254del)	ACADVL (G254del +3 more)	Deletion (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21024	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	ACADVL (T260M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 371635	NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	ACADVL (V191fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 370981	NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	ACADVL (G289R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 371464	NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	ACADVL (P274fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 203575	NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	ACADVL (G294E +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 189008	NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	ACADVL (P274fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 92292	NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	ACADVL (K299del +3 more)	Microsatellite (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371321	NM_000018.4(ACADVL):c.891del (p.Lys298fs)	ACADVL (K222fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 550411	NM_000018.4(ACADVL):c.898A>G (p.Met300Val)	ACADVL (M300V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 554546	NM_000018.4(ACADVL):c.932del (p.Phe311fs)	ACADVL (F235fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 203576	NM_000018.4(ACADVL):c.944T>G (p.Val315Gly)	ACADVL (V315G +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 557676	NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	ACADVL (S319* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 370886	NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	ACADVL (A257fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 371385	NM_000018.4(ACADVL):c.996del (p.Ala333fs)	ACADVL (A311fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 558408	NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)	ACADVL (L337del +3 more)	Deletion (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 426177	NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)	ACADVL (G340V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 552450	NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	ACADVL	Duplication (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 555781	NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	ACADVL (I356del +3 more)	Microsatellite (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 541717	NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity

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