11363[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 403490	NC_000012.12:g.56339747G>A	IL23A, LOC132090128 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 658970	NC_000012.11:g.(?_56737153)_(56737939_?)dup	STAT2	Duplication	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 542355	NC_000012.11:g.(?_56737153)_(56750375_?)dup	LOC130008075, STAT2	Duplication	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1519516	NM_005419.4(STAT2):c.2543C>T (p.Pro848Leu)	STAT2 (P841L +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1407723	NM_005419.4(STAT2):c.2539A>G (p.Met847Val)	STAT2 (M833V +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2098350	NM_005419.4(STAT2):c.2537T>G (p.Leu846Trp)	STAT2 (L813W +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1635496	NM_005419.4(STAT2):c.2536T>C (p.Leu846=)	STAT2	Single nucleotide variant (synonymous variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1448696	NM_005419.4(STAT2):c.2533C>A (p.Pro845Thr)	STAT2 (P812T +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1980272	NM_005419.4(STAT2):c.2525C>G (p.Thr842Ser)	STAT2 (T809S +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 640593	NM_005419.4(STAT2):c.2525C>A (p.Thr842Asn)	STAT2 (T838N +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 654234	NM_005419.4(STAT2):c.2507G>A (p.Arg836His)	STAT2 (R832H +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 644497	NM_005419.4(STAT2):c.2506C>T (p.Arg836Cys)	STAT2 (R832C +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2777678	NM_005419.4(STAT2):c.2502C>G (p.Val834=)	STAT2	Single nucleotide variant (synonymous variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2197469	NM_005419.4(STAT2):c.2500G>A (p.Val834Ile)	STAT2 (V801I +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GConflicting classifications of pathogenicity
Select item 1127448	NM_005419.4(STAT2):c.2493G>A (p.Glu831=)	STAT2	Single nucleotide variant (synonymous variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 654859	NM_005419.4(STAT2):c.2491G>A (p.Glu831Lys)	STAT2 (E827K +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1039624	NM_005419.4(STAT2):c.2485G>A (p.Val829Met)	STAT2 (V822M +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 475692	NM_005419.4(STAT2):c.2478G>T (p.Gln826His)	STAT2 (Q826H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 936063	NM_005419.4(STAT2):c.2474G>A (p.Gly825Asp)	STAT2 (G821D +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 475691	NM_005419.4(STAT2):c.2472_2473delinsCT (p.Gly825Cys)	STAT2 (G825C +1 more)	Indel (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GBenign
Select item 403491	NM_005419.4(STAT2):c.2473G>T (p.Gly825Cys)	STAT2 (G825C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403492	NM_005419.4(STAT2):c.2472T>C (p.Ala824=)	STAT2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 744912	NM_005419.4(STAT2):c.2451G>A (p.Pro817=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 845490	NM_005419.4(STAT2):c.2450C>T (p.Pro817Leu)	STAT2 (P813L +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2420084	NM_005419.4(STAT2):c.2446A>C (p.Met816Leu)	STAT2 (M783L +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 3016633	NM_005419.4(STAT2):c.2445C>T (p.Ile815=)	STAT2	Single nucleotide variant (synonymous variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1111549	NM_005419.4(STAT2):c.2414-4C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2186404	NM_005419.4(STAT2):c.2413+14T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1576063	NM_005419.4(STAT2):c.2403G>A (p.Glu801=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1363027	NM_005419.4(STAT2):c.2377T>G (p.Cys793Gly)	STAT2 (C779G +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1651640	NM_005419.4(STAT2):c.2373G>A (p.Leu791=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1398354	NM_005419.4(STAT2):c.2352G>C (p.Gln784His)	STAT2 (Q751H +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GUncertain significance
Select item 1961758	NM_005419.4(STAT2):c.2344G>A (p.Val782Ile)	STAT2 (V749I +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1431800	NM_005419.4(STAT2):c.2336A>G (p.Gln779Arg)	STAT2 (Q746R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1518804	NM_005419.4(STAT2):c.2323C>T (p.Pro775Ser)	STAT2 (P775S +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 3006821	NM_005419.4(STAT2):c.2316A>G (p.Gln772=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1460799	NM_005419.4(STAT2):c.2299C>G (p.Leu767Val)	STAT2 (L734V +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2032273	NM_005419.4(STAT2):c.2286G>A (p.Val762=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1000096	NM_005419.4(STAT2):c.2284G>A (p.Val762Met)	STAT2 (V729M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1113664	NM_005419.4(STAT2):c.2271C>T (p.Ser757=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 942143	NM_005419.4(STAT2):c.2269T>C (p.Ser757Pro)	STAT2 (S757P +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2791440	NM_005419.4(STAT2):c.2266del (p.Glu756fs)	STAT2 (E742fs +5 more)	Deletion (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2807858	NM_005419.4(STAT2):c.2265G>A (p.Leu755=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1958198	NM_005419.4(STAT2):c.2250G>A (p.Glu750=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1576137	NM_005419.4(STAT2):c.2244G>T (p.Gly748=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 999305	NM_005419.4(STAT2):c.2239C>A (p.Leu747Met)	STAT2 (L714M +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1017584	NM_005419.4(STAT2):c.2236G>C (p.Asp746His)	STAT2 (D713H +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1157264	NM_005419.4(STAT2):c.2226G>A (p.Lys742=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1978256	NM_005419.4(STAT2):c.2212G>C (p.Glu738Gln)	STAT2 (E705Q +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2844977	NM_005419.4(STAT2):c.2208C>T (p.Asp736=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1968673	NM_005419.4(STAT2):c.2207A>C (p.Asp736Ala)	STAT2 (D703A +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2832802	NM_005419.4(STAT2):c.2197del (p.Leu733fs)	STAT2 (L722fs +5 more)	Deletion (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2190563	NM_005419.4(STAT2):c.2196G>C (p.Glu732Asp)	STAT2 (E699D +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GUncertain significance
Select item 1978257	NM_005419.4(STAT2):c.2192C>A (p.Pro731Gln)	STAT2 (P698Q +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 650367	NM_005419.4(STAT2):c.2191C>T (p.Pro731Ser)	STAT2 (P731S +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2914929	NM_005419.4(STAT2):c.2181G>A (p.Leu727=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2738421	NM_005419.4(STAT2):c.2176G>A (p.Gly726Arg)	STAT2 (G693R +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2046064	NM_005419.4(STAT2):c.2169G>A (p.Leu723=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1158025	NM_005419.4(STAT2):c.2163A>G (p.Leu721=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1594437	NM_005419.4(STAT2):c.2152C>T (p.Leu718=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1041807	NM_005419.4(STAT2):c.2130_2135del (p.Glu711_Leu712del)	STAT2	Deletion (inframe_deletion)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 769390	NM_005419.4(STAT2):c.2127G>A (p.Pro709=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1094693	NM_005419.4(STAT2):c.2116C>T (p.Leu706=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GLikely benign
Select item 2796194	NM_005419.4(STAT2):c.2114A>G (p.Glu705Gly)	STAT2 (E691G +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1113283	NM_005419.4(STAT2):c.2109G>A (p.Val703=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1092305	NM_005419.4(STAT2):c.2103-17T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1460402	NM_005419.4(STAT2):c.2103-19T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2887568	NM_005419.4(STAT2):c.2103-20G>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 583729	NC_000012.11:g.(?_56739910)_(56750375_?)dup	STAT2, LOC130008075	Duplication	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1621363	NM_005419.4(STAT2):c.2102+9_2102+12dup	STAT2	Duplication (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2905244	NM_005419.4(STAT2):c.2102+9T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2831047	NM_005419.4(STAT2):c.2102+7T>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1176947	NM_005419.4(STAT2):c.2099A>G (p.Asn700Ser)	STAT2 (N667S +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +2 more	GUncertain significance
Select item 1396208	NM_005419.4(STAT2):c.2079C>G (p.His693Gln)	STAT2 (H679Q +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 841557	NM_005419.4(STAT2):c.2060G>A (p.Arg687Gln)	STAT2 (R683Q +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1021502	NM_005419.4(STAT2):c.2059C>T (p.Arg687Trp)	STAT2 (R654W +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1902606	NM_005419.4(STAT2):c.2053C>A (p.Gln685Lys)	STAT2 (Q678K +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1363262	NM_005419.4(STAT2):c.2050C>G (p.Leu684Val)	STAT2 (L680V +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1032995	NM_005419.4(STAT2):c.2045-9T>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1621016	NM_005419.4(STAT2):c.2045-13A>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2029828	NM_005419.4(STAT2):c.2045-14T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2983963	NM_005419.4(STAT2):c.2045-15A>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1653064	NM_005419.4(STAT2):c.2044+15C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 542351	NM_005419.4(STAT2):c.2044+10G>A	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 542350	NM_005419.4(STAT2):c.2044+9C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2142282	NM_005419.4(STAT2):c.2036A>G (p.Gln679Arg)	STAT2 (Q646R +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 657004	NM_005419.4(STAT2):c.2030A>G (p.Tyr677Cys)	STAT2 (Y673C +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2876331	NM_005419.4(STAT2):c.2019T>C (p.Ala673=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 1019714	NM_005419.4(STAT2):c.2008C>T (p.Arg670Trp)	STAT2 (R637W +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 542346	NM_005419.4(STAT2):c.2004C>G (p.Ile668Met)	STAT2 (I668M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 860056	NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln)	STAT2 (R663Q +1 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 3 +1 more	GUncertain significance
Select item 578415	NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter)	STAT2 (R667* +5 more)	Single nucleotide variant (nonsense)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 1001244	NM_005419.4(STAT2):c.1985G>A (p.Arg662His)	STAT2 (R629H +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1983179	NM_005419.4(STAT2):c.1984C>T (p.Arg662Cys)	STAT2 (R629C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1721098	NM_005419.4(STAT2):c.1970C>G (p.Pro657Arg)	STAT2 (P624R +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 1380391	NM_005419.4(STAT2):c.1969C>T (p.Pro657Ser)	STAT2 (P643S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2028194	NM_005419.4(STAT2):c.1965T>C (p.Asn655=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2092319	NM_005419.4(STAT2):c.1964A>C (p.Asn655Thr)	STAT2 (N648T +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance

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