ClinVar for MedGen (Select 766861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677661	NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)	PEX10 (R143fs)	Microsatellite (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677660	NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)	PEX10 (W105* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 2677659	NM_002617.4(PEX10):c.247_251del (p.Arg83fs)	PEX10 (R83fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677658	NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)	PEX10 (Y200* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677657	NM_002617.4(PEX10):c.592del (p.Ile198fs)	PEX10 (I198fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677656	NM_002617.4(PEX10):c.777-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677655	NM_002617.4(PEX10):c.8del (p.Pro3fs)	PEX10 (P3fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 2677654	NM_002617.4(PEX10):c.844_848del (p.His282fs)	PEX10 (H138fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677653	NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)	PEX10 (E116fs)	Indel (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677652	NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)	PEX10 (Q67R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677651	NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)	PEX10 (W42*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677650	NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)	PEX10 (R142fs)	Duplication (frameshift variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 2677649	NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)	PEX10 (W150* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic
Select item 2677648	NM_002617.4(PEX10):c.142dup (p.Glu48fs)	PEX10 (E48fs)	Duplication (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677647	NM_002617.4(PEX10):c.601-18dup	PEX10 (A214fs +2 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677646	NM_002617.4(PEX10):c.813_814del (p.Leu272fs)	PEX10 (L128fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 1960695	NM_002617.4(PEX10):c.776+1G>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely pathogenic
Select item 1804862	NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)	PEX10 (A5fs)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 1725819	NM_002617.4(PEX10):c.522_523del (p.Gln175fs)	PEX10 (Q175fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 1724832	NM_002617.4(PEX10):c.445_452del (p.Thr149fs)	PEX10 (T149fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 1724319	NM_002617.4(PEX10):c.618del (p.Gly208fs)	PEX10 (G208fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1724150	NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)	PEX10 (W45*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1724122	NM_002617.4(PEX10):c.222_223del (p.Ser75fs)	PEX10 (S75fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1723948	NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)	PEX10 (W181* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 1705110	NM_002617.4(PEX10):c.587del (p.Thr196fs)	PEX10 (T196fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GLikely pathogenic
Select item 1686019	NM_002617.4(PEX10):c.52G>C (p.Asp18His)	PEX10 (D18H)	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GConflicting classifications of pathogenicity
Select item 1686018	NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)	PEX10 (C132S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic
Select item 1373599	NM_002617.4(PEX10):c.485G>A (p.Arg162Gln)	PEX10 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1362935	NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)	PEX10 (G140fs)	Duplication (frameshift variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 1360138	NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)	PEX10 (Y73*)	Single nucleotide variant (non-coding transcript variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 1180486	NM_002617.4(PEX10):c.776+33G>T	PEX10	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1074695	NM_002617.4(PEX10):c.157_158del (p.Ser53fs)	PEX10 (S53fs)	Microsatellite (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1070709	NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)	PEX10 (Q110* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GPathogenic/Likely pathogenic
Select item 1033177	NM_002617.4(PEX10):c.581G>A (p.Arg194Lys)	PEX10 (R50K +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 1033176	NM_002617.4(PEX10):c.290C>T (p.Thr97Ile)	PEX10 (T97I)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 1029463	NM_002617.4(PEX10):c.895G>A (p.Ala299Thr)	PEX10 (A155T +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 974615	NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)	PEX10 (L33R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 964978	NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)	PEX10 (R261Q +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GUncertain significance
Select item 955602	NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)	PEX10 (L113P)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 930457	NM_002617.4(PEX10):c.50A>G (p.Lys17Arg)	PEX10 (K17R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 876431	NM_002617.4(PEX10):c.899G>T (p.Trp300Leu)	PEX10 (W175L +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 876386	NM_002617.4(PEX10):c.*905A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 876385	NM_002617.4(PEX10):c.*951G>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875456	NM_002617.4(PEX10):c.443A>G (p.His148Arg)	PEX10 (H148R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875455	NM_002617.4(PEX10):c.488C>T (p.Ala163Val)	PEX10 (A163V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 875454	NM_002617.4(PEX10):c.521T>A (p.Leu174His)	PEX10 (L30H +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875453	NM_002617.4(PEX10):c.601-18G>C	PEX10 (A215P +2 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 875399	NM_002617.4(PEX10):c.*175T>C	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875398	NM_002617.4(PEX10):c.*401A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875345	NM_002617.4(PEX10):c.*445G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875344	NM_002617.4(PEX10):c.*595G>A	RER1, PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 875343	NM_002617.4(PEX10):c.*643C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875342	NM_002617.4(PEX10):c.*676C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely benign
Select item 875341	NM_002617.4(PEX10):c.*686C>G	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874591	NM_001374426.1(PEX10):c.-321+1018G>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874478	NM_002617.4(PEX10):c.768T>A (p.Ser256=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874477	NM_002617.4(PEX10):c.821C>T (p.Thr274Ile)	PEX10 (T130I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 874476	NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)	PEX10 (G289S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 874434	NM_002617.4(PEX10):c.*824G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 873588	NM_002617.4(PEX10):c.-18C>T	PEX10	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 873587	NM_002617.4(PEX10):c.-9C>T	PEX10	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 873586	NM_002617.4(PEX10):c.112+11G>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 849066	NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)	PEX10 (R202S +4 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related condition +2 more	GUncertain significance
Select item 767643	NM_002617.4(PEX10):c.621C>G (p.Pro207=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GBenign/Likely benign
Select item 718967	NM_002617.4(PEX10):c.27G>A (p.Pro9=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	PEX10-related condition +2 more	GBenign/Likely benign
Select item 631594	NM_002617.4(PEX10):c.551del (p.Ile184fs)	PEX10 (I184fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GConflicting classifications of pathogenicity
Select item 598635	NM_002617.4(PEX10):c.271C>T (p.Arg91Cys)	PEX10 (R91C)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 597855	NM_002617.4(PEX10):c.295del (p.His99fs)	PEX10 (H99fs)	Deletion (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 559058	NM_002617.4(PEX10):c.332T>C (p.Leu111Pro)	PEX10 (L111P)	Single nucleotide variant (5 prime UTR variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GBenign
Select item 559056	NM_002617.4(PEX10):c.435G>A (p.Met145Ile)	PEX10 (M145I +1 more)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GBenign
Select item 558664	NM_002617.4(PEX10):c.855_857dup (p.Thr286dup)	PEX10	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 558445	NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)	PEX10 (C296F +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 557602	NM_002617.4(PEX10):c.211G>A (p.Glu71Lys)	PEX10 (E71K)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 557464	NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)	PEX10	Deletion (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 557020	NM_002617.4(PEX10):c.912+1G>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 556838	NM_002617.4(PEX10):c.952_954del (p.Lys318del)	PEX10 (K338del +4 more)	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 556763	NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 556606	NM_002617.4(PEX10):c.601-38_601-37del	PEX10 (L208fs +2 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 555942	NM_002617.4(PEX10):c.233A>G (p.Gln78Arg)	PEX10 (Q78R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 555863	NM_002617.4(PEX10):c.26del (p.Pro9fs)	PEX10 (P9fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 555812	NM_002617.4(PEX10):c.913-2A>C	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 555297	NM_002617.4(PEX10):c.815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 555007	NM_002617.4(PEX10):c.776+2T>C	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 554655	NM_002617.4(PEX10):c.20del (p.Ser7fs)	PEX10 (S7fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 554630	NM_002617.4(PEX10):c.761del (p.Gly254fs)	PEX10 (G274fs +4 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 554342	NM_002617.4(PEX10):c.912+1G>C	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 553702	NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)	PEX10 (E284* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 553321	NM_002617.4(PEX10):c.776+2T>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 553280	NM_002617.4(PEX10):c.600+1del	PEX10	Deletion (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 553074	NM_002617.4(PEX10):c.795_796del (p.Arg265fs)	PEX10 (R265fs +4 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GPathogenic/Likely pathogenic
Select item 553007	NM_002617.4(PEX10):c.113-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GLikely pathogenic
Select item 552930	NM_002617.4(PEX10):c.868C>G (p.His290Asp)	PEX10 (H310D +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 552841	NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 551969	NM_002617.4(PEX10):c.601-24_601-23del	PEX10 (S213fs +2 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 551349	NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)	PEX10 (C313del +4 more)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 550383	NM_002617.4(PEX10):c.755_756del (p.His252fs)	PEX10 (H252fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 550051	NM_002617.4(PEX10):c.601-26_601-25delinsCTC	PEX10 (M212fs +2 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 500567	NM_002617.4(PEX10):c.740A>G (p.Lys247Arg)	PEX10 (K267R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GUncertain significance
Select item 500033	NM_002617.4(PEX10):c.601-27A>G	PEX10 (M212V +2 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related condition +3 more	GConflicting classifications of pathogenicity
Select item 498837	NM_002617.4(PEX10):c.627G>A (p.Glu209=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity

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