ClinVar for MedGen (Select 462101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3015970	NM_001783.4(CD79A):c.380-14C>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2994672	NM_001783.4(CD79A):c.525G>T (p.Gly175=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2971031	NM_001783.4(CD79A):c.379+19G>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2963896	NM_001783.4(CD79A):c.567+15G>C	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2921072	NM_001783.4(CD79A):c.576C>A (p.Asn192Lys)	CD79A (N192K +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2880159	NM_001783.4(CD79A):c.499-8C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2853308	NM_001783.4(CD79A):c.499-10A>C	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GBenign
Select item 2853226	NM_001783.4(CD79A):c.499-14A>C	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GBenign
Select item 2841341	NM_001783.4(CD79A):c.561T>G (p.Leu187=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2814461	NM_001783.4(CD79A):c.519G>A (p.Lys173=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2775742	NM_001783.4(CD79A):c.499-18C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2768411	NM_001783.4(CD79A):c.120A>C (p.Ala40=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2748872	NM_001783.4(CD79A):c.503G>A (p.Arg168Gln)	CD79A (R130Q +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2739734	NM_001783.4(CD79A):c.568-16C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2706885	NM_001783.4(CD79A):c.379+23dup	CD79A	Duplication (intron variant)	Agammaglobulinemia 3, autosomal recessive	GBenign
Select item 2424235	NC_000019.9:g.(?_42363988)_(42385047_?)dup	CD79A, RPS19	Duplication	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2419928	NM_001783.4(CD79A):c.380-8C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2416038	NM_001783.4(CD79A):c.108C>T (p.His36=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2195998	NM_001783.4(CD79A):c.189C>T (p.Asn63=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2184051	NM_001783.4(CD79A):c.79+6T>C	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2175654	NM_001783.4(CD79A):c.428G>A (p.Arg143Gln)	CD79A (R143Q +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2157780	NM_001783.4(CD79A):c.394C>A (p.Pro132Thr)	CD79A (P94T +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2147498	NM_001783.4(CD79A):c.190G>A (p.Val64Ile)	CD79A (V64I)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2145170	NM_001783.4(CD79A):c.12T>G (p.Gly4=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2140977	NM_001783.4(CD79A):c.499-18C>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2133607	NM_001783.4(CD79A):c.498+6C>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2128215	NC_000019.10:g.41878996_41879009del	CD79A	Deletion	Agammaglobulinemia 3, autosomal recessive	GPathogenic
Select item 2127068	NM_001783.4(CD79A):c.338A>G (p.Glu113Gly)	CD79A (E113G)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2106718	NM_001783.4(CD79A):c.242T>C (p.Leu81Ser)	CD79A (L81S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2105348	NM_001783.4(CD79A):c.499-1G>A	CD79A	Single nucleotide variant (splice acceptor variant)	Agammaglobulinemia 3, autosomal recessive	GLikely pathogenic
Select item 2103494	NM_001783.4(CD79A):c.514G>A (p.Glu172Lys)	CD79A (E134K +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2089133	NM_001783.4(CD79A):c.79+8G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2085721	NM_001783.4(CD79A):c.493T>C (p.Phe165Leu)	CD79A (F165L +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2056574	NM_001783.4(CD79A):c.253G>A (p.Glu85Lys)	CD79A (E85K)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2035471	NM_001783.4(CD79A):c.427C>A (p.Arg143=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2032039	NM_001783.4(CD79A):c.568-6T>C	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2026653	NM_001783.4(CD79A):c.150C>T (p.Ala50=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1987328	NM_001783.4(CD79A):c.357C>T (p.Cys119=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1985512	NM_001783.4(CD79A):c.664C>T (p.Gln222Ter)	CD79A (Q184* +1 more)	Single nucleotide variant (nonsense)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1963765	NM_001783.4(CD79A):c.379+3G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1955243	NM_001783.4(CD79A):c.335A>G (p.Asn112Ser)	CD79A (N112S)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1950396	NM_001783.4(CD79A):c.80-12G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1950270	NM_001783.4(CD79A):c.384G>A (p.Pro128=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1942872	NM_001783.4(CD79A):c.51C>A (p.Leu17=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1941948	NM_001783.4(CD79A):c.416G>A (p.Gly139Asp)	CD79A (G101D +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1938528	NM_001783.4(CD79A):c.188A>T (p.Asn63Ile)	CD79A (N63I)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1938028	NM_001783.4(CD79A):c.463_464delinsCT (p.Cys155Leu)	CD79A (C155L +1 more)	Indel (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1926259	NM_001783.4(CD79A):c.567+20_567+21delinsAT	CD79A	Indel (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1715132	NM_001783.4(CD79A):c.466_467delinsTT (p.Ala156Leu)	CD79A (A118L +1 more)	Indel (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1673939	NM_001783.4(CD79A):c.499-15C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1673749	NM_001783.4(CD79A):c.483G>A (p.Thr161=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1657189	NM_001783.4(CD79A):c.387C>T (p.Pro129=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1640099	NM_001783.4(CD79A):c.372C>T (p.Arg124=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1638404	NM_001783.4(CD79A):c.498+12C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1634149	NM_001783.4(CD79A):c.24C>T (p.Leu8=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1595039	NM_001783.4(CD79A):c.204C>T (p.Arg68=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1575216	NM_001783.4(CD79A):c.498+13G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1571505	NM_001783.4(CD79A):c.678G>A (p.Pro226=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1562997	NM_001783.4(CD79A):c.453C>T (p.Ile151=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1562758	NM_001783.4(CD79A):c.567+19T>G	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1561263	NM_001783.4(CD79A):c.567+12G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1547606	NM_001783.4(CD79A):c.54C>A (p.Leu18=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1538616	NM_001783.4(CD79A):c.498+10C>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1512072	NM_001783.4(CD79A):c.624C>T (p.Gly208=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1508770	NM_001783.4(CD79A):c.8G>C (p.Gly3Ala)	CD79A (G3A)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1498082	NM_001783.4(CD79A):c.395C>T (p.Pro132Leu)	CD79A (P94L +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1487071	NM_001783.4(CD79A):c.611G>A (p.Arg204Gln)	CD79A (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1474994	NM_001783.4(CD79A):c.498G>C (p.Arg166Ser)	CD79A (R128S +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1472173	NM_001783.4(CD79A):c.310T>C (p.Tyr104His)	CD79A (Y104H)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1471307	NM_001783.4(CD79A):c.358G>A (p.Gly120Ser)	CD79A (G120S)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1462143	NM_001783.4(CD79A):c.499-17C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1456254	NM_001783.4(CD79A):c.309A>C (p.Ile103=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1441901	NM_001783.4(CD79A):c.610C>G (p.Arg204Gly)	CD79A (R166G +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1436473	NM_001783.4(CD79A):c.263A>G (p.Asn88Ser)	CD79A (N88S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1427638	NM_001783.4(CD79A):c.79+14G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1387579	NM_001783.4(CD79A):c.164C>T (p.Pro55Leu)	CD79A (P55L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1373597	NM_001783.4(CD79A):c.466G>A (p.Ala156Thr)	CD79A (A118T +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1369396	NM_001783.4(CD79A):c.469G>A (p.Val157Met)	CD79A (V119M +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1348743	NM_001783.4(CD79A):c.650A>T (p.Asn217Ile)	CD79A (N179I +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1159022	NM_001783.4(CD79A):c.210C>A (p.Leu70=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1155764	NM_001783.4(CD79A):c.327G>A (p.Gln109=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1132182	NM_001783.4(CD79A):c.165G>A (p.Pro55=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1115975	NM_001783.4(CD79A):c.30T>C (p.Ala10=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1114134	NM_001783.4(CD79A):c.552T>C (p.Asp184=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1112222	NM_001783.4(CD79A):c.400C>T (p.Leu134=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1094084	NM_001783.4(CD79A):c.183C>T (p.Asn61=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive +1 more	GLikely benign
Select item 1093429	NM_001783.4(CD79A):c.465C>T (p.Cys155=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1089854	NM_001783.4(CD79A):c.225G>A (p.Thr75=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1082880	NM_001783.4(CD79A):c.270G>A (p.Thr90=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1059609	NM_001783.4(CD79A):c.523G>A (p.Gly175Arg)	CD79A (G137R +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1057644	NM_001783.4(CD79A):c.677C>T (p.Pro226Leu)	CD79A (P188L +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1055887	NM_001783.4(CD79A):c.259C>T (p.Pro87Ser)	CD79A (P87S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1054078	NM_001783.4(CD79A):c.653T>A (p.Ile218Lys)	CD79A (I180K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1048795	NM_001783.4(CD79A):c.374T>G (p.Val125Gly)	CD79A (V125G)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1037005	NM_001783.4(CD79A):c.202C>T (p.Arg68Cys)	CD79A (R68C)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1036112	NM_001783.4(CD79A):c.128T>A (p.Met43Lys)	CD79A (M43K)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1035578	NM_001783.4(CD79A):c.373G>A (p.Val125Met)	CD79A (V125M)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive +1 more	GUncertain significance
Select item 1025028	NM_001783.4(CD79A):c.137T>C (p.Leu46Pro)	CD79A (L46P)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1020949	NM_001783.4(CD79A):c.377G>A (p.Arg126His)	CD79A (R126H)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 1014689	NM_001783.4(CD79A):c.182A>T (p.Asn61Ile)	CD79A (N61I)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance

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