973[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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 2145170	NM_001783.4(CD79A):c.12T>G (p.Gly4=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 2379240	NM_001783.4(CD79A):c.13C>T (p.Pro5Ser)	CD79A (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487216	NM_001783.4(CD79A):c.21C>T (p.Val7=)	CD79A	Single nucleotide variant (synonymous 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 133831	NM_001783.4(CD79A):c.28G>A (p.Ala10Thr)	CD79A (A10T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1942872	NM_001783.4(CD79A):c.51C>A (p.Leu17=)	CD79A	Single nucleotide variant (synonymous 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 791064	NM_001783.4(CD79A):c.61C>T (p.Leu21=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 664433	NM_001783.4(CD79A):c.64T>A (p.Ser22Thr)	CD79A (S22T)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
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 2089133	NM_001783.4(CD79A):c.79+8G>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
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 1233380	NM_001783.4(CD79A):c.80-303G>A	CD79A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2128215	NC_000019.10:g.41878996_41879009del	CD79A	Deletion	Agammaglobulinemia 3, autosomal recessive	GPathogenic
Select item 1000084	NM_001783.4(CD79A):c.80-3C>T	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 999887	NM_001783.4(CD79A):c.80G>T (p.Gly27Val)	CD79A (G27V)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 2649929	NM_001783.4(CD79A):c.81C>G (p.Gly27=)	CD79A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649930	NM_001783.4(CD79A):c.87G>C (p.Gly29=)	CD79A	Single nucleotide variant (synonymous variant)	not provided	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 2768411	NM_001783.4(CD79A):c.120A>C (p.Ala40=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
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 839358	NM_001783.4(CD79A):c.134G>C (p.Ser45Thr)	CD79A (S45T)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	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 795151	NM_001783.4(CD79A):c.147C>T (p.Asp49=)	CD79A	Single nucleotide variant (synonymous 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 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 1132182	NM_001783.4(CD79A):c.165G>A (p.Pro55=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 1003780	NM_001783.4(CD79A):c.179A>G (p.Asn60Ser)	CD79A (N60S)	Single nucleotide variant (missense variant)	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
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 835246	NM_001783.4(CD79A):c.184G>A (p.Ala62Thr)	CD79A (A62T)	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 646670	NM_001783.4(CD79A):c.188A>G (p.Asn63Ser)	CD79A (N63S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
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 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 570771	NM_001783.4(CD79A):c.198G>A (p.Trp66Ter)	CD79A (W66*)	Single nucleotide variant (nonsense)	Agammaglobulinemia 3, autosomal recessive	GPathogenic
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 834558	NM_001783.4(CD79A):c.203G>A (p.Arg68His)	CD79A (R68H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1159022	NM_001783.4(CD79A):c.210C>A (p.Leu70=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
Select item 835007	NM_001783.4(CD79A):c.224C>T (p.Thr75Met)	CD79A (T75M)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 569215	NM_001783.4(CD79A):c.224C>A (p.Thr75Lys)	CD79A (T75K)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
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 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 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 133832	NM_001783.4(CD79A):c.258C>A (p.Asp86Glu)	CD79A (D86E)	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 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 582606	NM_001783.4(CD79A):c.269C>T (p.Thr90Met)	CD79A (T90M)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
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 744606	NM_001783.4(CD79A):c.301G>A (p.Gly101Arg)	CD79A (G101R)	Single nucleotide variant (missense variant +1 more)	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 842297	NM_001783.4(CD79A):c.309A>G (p.Ile103Met)	CD79A (I103M)	Single nucleotide variant (missense variant +1 more)	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 753741	NM_001783.4(CD79A):c.312C>T (p.Tyr104=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive +1 more	GLikely benign
Select item 854015	NM_001783.4(CD79A):c.313G>A (p.Val105Met)	CD79A (V105M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 133833	NM_001783.4(CD79A):c.320G>A (p.Arg107Gln)	CD79A (R107Q)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 827697	NM_001783.4(CD79A):c.323T>G (p.Val108Gly)	CD79A (V108G)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GPathogenic
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 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 753579	NM_001783.4(CD79A):c.336C>T (p.Asn112=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
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 937949	NM_001783.4(CD79A):c.341C>T (p.Ser114Leu)	CD79A (S114L)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
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 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 450253	NM_001783.4(CD79A):c.370C>T (p.Arg124Cys)	CD79A (R124C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 133834	NM_001783.4(CD79A):c.371G>A (p.Arg124His)	CD79A (R124H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 732168	NM_001783.4(CD79A):c.375G>A (p.Val125=)	CD79A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
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 17707	NM_001783.4(CD79A):c.379+1G>A	CD79A	Single nucleotide variant (splice donor variant +1 more)	Agammaglobulinemia 3, autosomal recessive	GLikely pathogenic
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 2971031	NM_001783.4(CD79A):c.379+19G>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 3015970	NM_001783.4(CD79A):c.380-14C>A	CD79A	Single nucleotide variant (intron variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
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 17706	NM_001783.4(CD79A):c.380-2A>G	CD79A	Single nucleotide variant (splice acceptor variant)	Agammaglobulinemia 3, autosomal recessive	GPathogenic
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 1657189	NM_001783.4(CD79A):c.387C>T (p.Pro129=)	CD79A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 3, autosomal recessive	GLikely benign
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 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 1112222	NM_001783.4(CD79A):c.400C>T (p.Leu134=)	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 587546	NM_001783.4(CD79A):c.419C>T (p.Thr140Ile)	CD79A (T140I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive agammaglobulinemia 1 +1 more	GUncertain significance
Select item 133835	NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)	CD79A (T140N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 835044	NM_001783.4(CD79A):c.442G>A (p.Glu148Lys)	CD79A (E148K +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive	GUncertain significance
Select item 439471	NM_001783.4(CD79A):c.452T>C (p.Ile151Thr)	CD79A (I151T +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive +1 more	GUncertain significance
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 743134	NM_001783.4(CD79A):c.459G>A (p.Leu153=)	CD79A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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