974[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1231409	NM_000626.4(CD79B):c.*154C>T	CD79B, GH-LCR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1272184	NM_000626.4(CD79B):c.*153C>G	CD79B, GH-LCR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287682	NM_000626.4(CD79B):c.*89T>C	CD79B, GH-LCR	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1407172	NM_000626.4(CD79B):c.679G>A (p.Gly227Ser)	CD79B, GH-LCR (G124S +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1121832	NM_000626.4(CD79B):c.678A>C (p.Pro226=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1898111	NM_000626.4(CD79B):c.672G>A (p.Glu224=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2035242	NM_000626.4(CD79B):c.669T>C (p.Gly223=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2291463	NM_000626.4(CD79B):c.664G>C (p.Val222Leu)	CD79B, GH-LCR (V222L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1462264	NM_000626.4(CD79B):c.664G>A (p.Val222Ile)	CD79B, GH-LCR (V118I +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1119453	NM_000626.4(CD79B):c.648G>A (p.Gly216=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 955155	NM_000626.4(CD79B):c.646G>C (p.Gly216Arg)	GH-LCR, CD79B (G113R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 773320	NM_000626.4(CD79B):c.645A>G (p.Thr215=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1986905	NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)	CD79B, GH-LCR (R215Q +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1634840	NM_000626.4(CD79B):c.636G>A (p.Thr212=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 643205	NM_000626.4(CD79B):c.635C>T (p.Thr212Met)	CD79B, GH-LCR (T109M +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2191431	NM_000626.4(CD79B):c.621T>C (p.Tyr207=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 538692	NM_000626.4(CD79B):c.592-6C>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2044653	NM_000626.4(CD79B):c.591+16G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1426507	NM_000626.4(CD79B):c.591+13G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1437604	NM_000626.4(CD79B):c.591+4A>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1418607	NM_000626.4(CD79B):c.591G>A (p.Glu197=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 3140671	NM_000626.4(CD79B):c.589G>C (p.Glu197Gln)	CD79B, GH-LCR (E198Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573989	NM_000626.4(CD79B):c.586T>C (p.Tyr196His)	CD79B, GH-LCR (Y196H +3 more)	Single nucleotide variant (missense variant)	Malignant lymphoma, large B-cell, diffuse	GLikely pathogenic
Select item 1646126	NM_000626.4(CD79B):c.585C>G (p.Thr195=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2095290	NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)	CD79B, GH-LCR (T195S +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1983157	NM_000626.4(CD79B):c.571G>C (p.Glu191Gln)	CD79B, GH-LCR (E192Q +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1612053	NM_000626.4(CD79B):c.567C>T (p.Gly189=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1359969	NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly)	CD79B, GH-LCR (A188G +3 more)	Indel (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 945679	NM_000626.4(CD79B):c.557G>A (p.Ser186Asn)	CD79B, GH-LCR (S82N +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1489625	NM_000626.4(CD79B):c.552T>A (p.Asp184Glu)	CD79B, GH-LCR (D185E +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1657232	NM_000626.4(CD79B):c.550-6C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1165961	NM_000626.4(CD79B):c.550-8G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GBenign
Select item 1657457	NM_000626.4(CD79B):c.550-17T>C	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GBenign
Select item 2810599	NM_000626.4(CD79B):c.550-19C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1279839	NM_000626.4(CD79B):c.549+133A>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2147475	NM_000626.4(CD79B):c.549+20A>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2091231	NM_000626.4(CD79B):c.549+17G>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1575569	NM_000626.4(CD79B):c.549+16G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1128323	NM_000626.4(CD79B):c.549+14G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2966614	NM_000626.4(CD79B):c.549+13C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1663861	NM_000626.4(CD79B):c.549+11G>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1570806	NM_000626.4(CD79B):c.549+11del	CD79B, GH-LCR	Deletion (intron variant)	Agammaglobulinemia 6, autosomal recessive	GBenign
Select item 1558038	NM_000626.4(CD79B):c.549+11G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2788648	NM_000626.4(CD79B):c.549+9G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2698080	NM_000626.4(CD79B):c.549+9G>C	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 837161	NM_000626.4(CD79B):c.547A>G (p.Lys183Glu)	CD79B, GH-LCR (K184E +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1019051	NM_000626.4(CD79B):c.542T>A (p.Leu181Gln)	CD79B, GH-LCR (L181Q +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2883369	NM_000626.4(CD79B):c.534C>T (p.Phe178=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2168046	NM_000626.4(CD79B):c.523G>A (p.Val175Met)	CD79B, GH-LCR (V72M +3 more)	Single nucleotide variant (missense variant)	CD79B-related disorder +1 more	GUncertain significance
Select item 1605978	NM_000626.4(CD79B):c.522C>T (p.Ile174=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1941107	NM_000626.4(CD79B):c.501G>A (p.Leu167=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1088512	NM_000626.4(CD79B):c.498G>A (p.Thr166=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 133840	NM_000626.4(CD79B):c.497C>T (p.Thr166Met)	CD79B, GH-LCR (T167M +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2618349	NM_000626.4(CD79B):c.484A>G (p.Ile162Val)	CD79B, GH-LCR (I162V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1993382	NM_000626.4(CD79B):c.480T>A (p.Gly160=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 762435	NM_000626.4(CD79B):c.468G>A (p.Thr156=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1513391	NM_000626.4(CD79B):c.467C>T (p.Thr156Met)	CD79B, GH-LCR (T52M +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2192553	NM_000626.4(CD79B):c.462G>A (p.Arg154=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 791744	NM_000626.4(CD79B):c.431-3C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 742165	NM_000626.4(CD79B):c.431-4G>A	GH-LCR, CD79B	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1133806	NM_000626.4(CD79B):c.431-5C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2196836	NM_000626.4(CD79B):c.431-8_431-7delinsTG	CD79B, GH-LCR	Indel (intron variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2717942	NM_000626.4(CD79B):c.431-13C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2197619	NM_000626.4(CD79B):c.431-15C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2962082	NM_000626.4(CD79B):c.431-18C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2107955	NM_000626.4(CD79B):c.431-18C>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1573671	NM_000626.4(CD79B):c.431-19C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2777126	NM_000626.4(CD79B):c.431-20C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1964958	NM_000626.4(CD79B):c.431-20C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1102768	NM_000626.4(CD79B):c.430+10A>C	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1138178	NM_000626.4(CD79B):c.430+8C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2139630	NM_000626.4(CD79B):c.429G>A (p.Met143Ile)	CD79B, GH-LCR (M143I +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 573508	NM_000626.4(CD79B):c.422G>A (p.Arg141Gln)	CD79B, GH-LCR (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 626079	NM_000626.4(CD79B):c.414A>G (p.Thr138=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 14802	NM_000626.4(CD79B):c.409G>A (p.Gly137Ser)	CD79B, GH-LCR (G137S +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GPathogenic
Select item 1607404	NM_000626.4(CD79B):c.408C>T (p.Cys136=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1626017	NM_000626.4(CD79B):c.405C>T (p.Gly135=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1107084	NM_000626.4(CD79B):c.390G>A (p.Ser130=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1504174	NM_000626.4(CD79B):c.389C>T (p.Ser130Leu)	CD79B, GH-LCR (S130L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2192446	NM_000626.4(CD79B):c.387C>T (p.Thr129=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 538693	NM_000626.4(CD79B):c.381C>T (p.Asn127=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1430567	NM_000626.4(CD79B):c.379A>G (p.Asn127Asp)	CD79B, GH-LCR (N127D +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1143404	NM_000626.4(CD79B):c.372G>A (p.Gln124=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2738300	NM_000626.4(CD79B):c.364_366del (p.Cys122del)	CD79B, GH-LCR (C122del +1 more)	Deletion (inframe_deletion +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 402520	NM_000626.4(CD79B):c.366T>C (p.Cys122=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2166286	NM_000626.4(CD79B):c.363C>T (p.Phe121=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2139982	NM_000626.4(CD79B):c.362T>G (p.Phe121Cys)	CD79B, GH-LCR (F121C +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1545222	NM_000626.4(CD79B):c.354C>T (p.Gly118=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1556976	NM_000626.4(CD79B):c.351T>C (p.Asn117=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1005019	NM_000626.4(CD79B):c.341T>G (p.Phe114Cys)	CD79B, GH-LCR (F114C +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 644087	NM_000626.4(CD79B):c.338G>A (p.Arg113Gln)	CD79B, GH-LCR (R113Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1513156	NM_000626.4(CD79B):c.329A>G (p.Gln110Arg)	CD79B, GH-LCR (Q111R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 565587	NM_000626.4(CD79B):c.323C>T (p.Thr108Ile)	GH-LCR, CD79B (T108I +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2478032	NM_000626.4(CD79B):c.317C>T (p.Thr106Ile)	CD79B, GH-LCR (T106I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 471350	NM_000626.4(CD79B):c.312C>T (p.Leu104=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive +1 more	GBenign
Select item 1414841	NM_000626.4(CD79B):c.304G>A (p.Glu102Lys)	CD79B, GH-LCR (E103K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 742724	NM_000626.4(CD79B):c.303C>T (p.Asn101=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1964784	NM_000626.4(CD79B):c.299A>G (p.Gln100Arg)	CD79B, GH-LCR (Q100R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance

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