ClinVar for Gene (Select 29760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347419	NM_013314.4(BLNK):c.426G>A (p.Trp142Ter)	BLNK (W142*)	Single nucleotide variant (nonsense +2 more)	BLNK-related disorder	GLikely pathogenic
Select item 3261069	NM_013314.4(BLNK):c.1130A>G (p.His377Arg)	BLNK, ZNF518A (H354R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134130	NM_013314.4(BLNK):c.418C>T (p.Pro140Ser)	BLNK (P140S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067561	NM_013314.4(BLNK):c.1252-1139T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065608	NM_013314.4(BLNK):c.145C>T (p.Arg49Ter)	BLNK (R49*)	Single nucleotide variant (nonsense +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely pathogenic
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3023542	NM_013314.4(BLNK):c.526-13G>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 3020367	NM_013314.4(BLNK):c.361+8C>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 3015625	NM_013314.4(BLNK):c.902+15C>G	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2990080	NM_013314.4(BLNK):c.342C>T (p.Phe114=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2985286	NM_013314.4(BLNK):c.818-12T>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2982626	NM_013314.4(BLNK):c.869C>T (p.Ala290Val)	BLNK, ZNF518A (A290V +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2977512	NM_013314.4(BLNK):c.1251+13T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2977075	NM_013314.4(BLNK):c.608-16C>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2920339	NM_013314.4(BLNK):c.1173G>A (p.Lys391=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2900651	NM_013314.4(BLNK):c.315C>G (p.Thr105=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2896087	NM_013314.4(BLNK):c.1096-6A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2884788	NM_013314.4(BLNK):c.204+10T>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2881630	NM_013314.4(BLNK):c.113+14T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2877577	NM_013314.4(BLNK):c.987A>G (p.Ser329=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2861891	NM_013314.4(BLNK):c.676+9T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2860444	NM_013314.4(BLNK):c.747-2A>G	BLNK	Single nucleotide variant (splice acceptor variant)	Agammaglobulinemia 4, autosomal recessive	GLikely pathogenic
Select item 2855891	NM_013314.4(BLNK):c.48-9T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2854653	NM_013314.4(BLNK):c.999T>C (p.Thr333=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2854070	NM_013314.4(BLNK):c.817+16T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2847168	NM_013314.4(BLNK):c.1012-4A>G	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2845862	NM_013314.4(BLNK):c.608-15_608-14insCG	BLNK	Insertion (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2821789	NM_013314.4(BLNK):c.81C>T (p.Asn27=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2817820	NM_013314.4(BLNK):c.746+8C>G	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2816981	NM_013314.4(BLNK):c.762A>G (p.Thr254=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2808282	NM_013314.4(BLNK):c.903-7C>T	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2797874	NM_013314.4(BLNK):c.114-11G>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2789566	NM_013314.4(BLNK):c.203T>C (p.Phe68Ser)	BLNK (F68S)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2787344	NM_013314.4(BLNK):c.159T>C (p.Ala53=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2783882	NM_013314.4(BLNK):c.775-12del	BLNK	Deletion (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 2765555	NM_013314.4(BLNK):c.1011+14T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2763732	NM_013314.4(BLNK):c.5A>T (p.Asp2Val)	BLNK (D2V)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2746948	NM_013314.4(BLNK):c.948G>A (p.Gly316=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2744630	NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)	BLNK, ZNF518A (S351N +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2740830	NM_013314.4(BLNK):c.934+11C>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2739872	NM_013314.4(BLNK):c.164-15C>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2735569	NM_013314.4(BLNK):c.1096-9dup	BLNK, ZNF518A	Duplication (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 2733760	NM_013314.4(BLNK):c.896C>T (p.Ala299Val)	BLNK, ZNF518A (A194V +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2727227	NM_013314.4(BLNK):c.677-12A>G	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2721723	NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)	BLNK, ZNF518A (E256Q +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2706634	NM_013314.4(BLNK):c.521A>T (p.Asp174Val)	BLNK (D174V)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2630855	NM_013314.4(BLNK):c.264del (p.Glu89fs)	BLNK (E89fs)	Deletion (frameshift variant +1 more)	BLNK-related disorder	GLikely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2442478	NM_013314.4(BLNK):c.68A>G (p.His23Arg)	BLNK (H23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2299241	NM_013314.4(BLNK):c.81C>G (p.Asn27Lys)	BLNK (N27K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271534	NM_013314.4(BLNK):c.1034C>T (p.Pro345Leu)	BLNK, ZNF518A (P345L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260935	NM_013314.4(BLNK):c.1319A>G (p.Gln440Arg)	BLNK, ZNF518A (Q283R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201098	NM_013314.4(BLNK):c.719C>T (p.Ala240Val)	BLNK (A217V +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2201067	NM_013314.4(BLNK):c.113+10C>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2200685	NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)	BLNK (R142Q +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2196231	NM_013314.4(BLNK):c.607+14G>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2195937	NM_013314.4(BLNK):c.253G>A (p.Val85Met)	BLNK (V85M)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2194195	NM_013314.4(BLNK):c.775-18T>G	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2189708	NM_013314.4(BLNK):c.607+13C>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2178962	NM_013314.4(BLNK):c.1252-3T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2170657	NM_013314.4(BLNK):c.1195C>A (p.Arg399=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2164088	NM_013314.4(BLNK):c.526-7C>T	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2161874	NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)	BLNK, ZNF518A (V435I +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 2161030	NM_013314.4(BLNK):c.677-16G>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2155938	NM_013314.4(BLNK):c.48-5dup	BLNK	Duplication (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 2152467	NM_013314.4(BLNK):c.1291C>A (p.His431Asn)	BLNK, ZNF518A (H274N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2143990	NM_013314.4(BLNK):c.647C>T (p.Thr216Met)	BLNK (T216M)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2135600	NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)	BLNK, ZNF518A (N441Y +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2123872	NM_013314.4(BLNK):c.616_618del (p.Val206del)	BLNK (V206del)	Deletion (inframe_deletion +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2113814	NM_013314.4(BLNK):c.361+9C>G	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2110143	NM_013314.4(BLNK):c.934+8C>T	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2105015	NM_013314.4(BLNK):c.720T>G (p.Ala240=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2104823	NM_013314.4(BLNK):c.612C>T (p.Pro204=)	BLNK	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2104389	NM_013314.4(BLNK):c.204+9T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2096692	NM_013314.4(BLNK):c.1012-11C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2096210	NM_013314.4(BLNK):c.292C>G (p.Pro98Ala)	BLNK (P98A)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2090455	NM_013314.4(BLNK):c.26del (p.Val9fs)	BLNK (V9fs)	Deletion (frameshift variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GPathogenic
Select item 2090295	NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)	BLNK, ZNF518A (I348T +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2087361	NM_013314.4(BLNK):c.526-5G>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2078254	NM_013314.4(BLNK):c.163+18T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2072426	NM_013314.4(BLNK):c.656C>G (p.Ser219Cys)	BLNK (S219C)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2071125	NM_013314.4(BLNK):c.456C>T (p.Thr152=)	BLNK	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2069972	NM_013314.4(BLNK):c.48-13T>G	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2064693	NM_013314.4(BLNK):c.339C>A (p.Pro113=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2063991	NM_013314.4(BLNK):c.1011+19A>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2063143	NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)	BLNK, ZNF518A (P189L +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2044652	NM_013314.4(BLNK):c.351C>T (p.Gly117=)	BLNK	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2044560	NM_013314.4(BLNK):c.903-19C>T	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2030186	NM_013314.4(BLNK):c.48-18T>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2029135	NM_013314.4(BLNK):c.48-9T>A	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2018898	NM_013314.4(BLNK):c.775-3T>C	BLNK	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2017031	NM_013314.4(BLNK):c.334C>T (p.Leu112=)	BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2014425	NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)	BLNK (E272A +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1965155	NM_013314.4(BLNK):c.903A>G (p.Lys301=)	ZNF518A, BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1963819	NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)	BLNK, ZNF518A	Single nucleotide variant (stop lost +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1945759	NM_013314.4(BLNK):c.839G>A (p.Arg280His)	ZNF518A, BLNK (R175H +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance

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