ClinVar for MedGen (Select 461704) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25053431.	NM_012452.3(TNFRSF13B):c.446-3C>A GRCh37: Chr17:16843828 GRCh38: Chr17:16940514	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Jun 15, 2023)	criteria provided, single submitter
Select item 24258202.	NC_000017.10:g.(?_16842861)_(19578885_?)dup GRCh37: Chr17:16842861-19578885	ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B		Familial aplasia of the vermis, Meckel-Gruber syndrome, Immunodeficiency, common variable, 2	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 24258193.	NC_000017.10:g.(?_16842861)_(16843845_?)dup GRCh37: Chr17:16842861-16843845	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 24258184.	NC_000017.10:g.(?_16875309)_(16875389_?)del GRCh37: Chr17:16875309-16875389	TNFRSF13B		Immunodeficiency, common variable, 2	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 24254415.	NM_012452.3(TNFRSF13B):c.632-13C>A GRCh37: Chr17:16843124 GRCh38: Chr17:16939810	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 24203966.	NM_012452.3(TNFRSF13B):c.453G>A (p.Pro151=) GRCh37: Chr17:16843818 GRCh38: Chr17:16940504	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 21968297.	NM_012452.3(TNFRSF13B):c.199+12G>A GRCh37: Chr17:16855748 GRCh38: Chr17:16952434	TNFRSF13B		Immunodeficiency, common variable, 2	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 21908838.	NM_012452.3(TNFRSF13B):c.667T>A (p.Ser223Thr) GRCh37: Chr17:16843076 GRCh38: Chr17:16939762	TNFRSF13B	S223T	Immunodeficiency, common variable, 2	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 21735959.	NM_012452.3(TNFRSF13B):c.733G>A (p.Ala245Thr) GRCh37: Chr17:16843010 GRCh38: Chr17:16939696	TNFRSF13B	A245T	Immunodeficiency, common variable, 2	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217316610.	NM_012452.3(TNFRSF13B):c.201G>A (p.Arg67=) GRCh37: Chr17:16852296 GRCh38: Chr17:16948982	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 217128511.	NM_012452.3(TNFRSF13B):c.764G>A (p.Cys255Tyr) GRCh37: Chr17:16842979 GRCh38: Chr17:16939665	TNFRSF13B	C255Y	Immunodeficiency, common variable, 2, TNFRSF13B-related condition	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217061512.	NM_012452.3(TNFRSF13B):c.55G>A (p.Glu19Lys) GRCh37: Chr17:16875335 GRCh38: Chr17:16972021	TNFRSF13B	E19K	Immunodeficiency, common variable, 2	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 216833013.	NM_012452.3(TNFRSF13B):c.149G>C (p.Cys50Ser) GRCh37: Chr17:16855810 GRCh38: Chr17:16952496	TNFRSF13B	C50S	Immunodeficiency, common variable, 2	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 216682414.	NM_012452.3(TNFRSF13B):c.702C>T (p.Phe234=) GRCh37: Chr17:16843041 GRCh38: Chr17:16939727	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216508015.	NM_012452.3(TNFRSF13B):c.40C>G (p.Arg14Gly) GRCh37: Chr17:16875350 GRCh38: Chr17:16972036	TNFRSF13B	R14G	Immunodeficiency, common variable, 2	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 215363616.	NM_012452.3(TNFRSF13B):c.753C>T (p.Pro251=) GRCh37: Chr17:16842990 GRCh38: Chr17:16939676	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 214865717.	NM_012452.3(TNFRSF13B):c.840del (p.Ile281fs) GRCh37: Chr17:16842903 GRCh38: Chr17:16939589	TNFRSF13B	I281fs	Immunodeficiency, common variable, 2	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214800118.	NM_012452.3(TNFRSF13B):c.732C>T (p.Ser244=) GRCh37: Chr17:16843011 GRCh38: Chr17:16939697	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 213059319.	NM_012452.3(TNFRSF13B):c.856G>A (p.Ala286Thr) GRCh37: Chr17:16842887 GRCh38: Chr17:16939573	TNFRSF13B	A286T	Immunodeficiency, common variable, 2	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 212336620.	NM_012452.3(TNFRSF13B):c.631G>A (p.Asp211Asn) GRCh37: Chr17:16843640 GRCh38: Chr17:16940326	TNFRSF13B	D211N	Immunodeficiency, common variable, 2	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 211560921.	NM_012452.3(TNFRSF13B):c.425G>C (p.Arg142Thr) GRCh37: Chr17:16852072 GRCh38: Chr17:16948758	TNFRSF13B	R142T	Immunodeficiency, common variable, 2	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 211217322.	NM_012452.3(TNFRSF13B):c.493A>G (p.Ser165Gly) GRCh37: Chr17:16843778 GRCh38: Chr17:16940464	TNFRSF13B	S165G	Immunodeficiency, common variable, 2	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 209793023.	NM_012452.3(TNFRSF13B):c.42T>C (p.Arg14=) GRCh37: Chr17:16875348 GRCh38: Chr17:16972034	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 209565624.	NM_012452.3(TNFRSF13B):c.677C>G (p.Pro226Arg) GRCh37: Chr17:16843066 GRCh38: Chr17:16939752	TNFRSF13B	P226R	Immunodeficiency, common variable, 2	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 209387125.	NM_012452.3(TNFRSF13B):c.18G>C (p.Arg6=) GRCh37: Chr17:16875372 GRCh38: Chr17:16972058	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209215826.	NM_012452.3(TNFRSF13B):c.199+5G>C GRCh37: Chr17:16855755 GRCh38: Chr17:16952441	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208873927.	NM_012452.3(TNFRSF13B):c.433G>A (p.Glu145Lys) GRCh37: Chr17:16852064 GRCh38: Chr17:16948750	TNFRSF13B	E145K	Immunodeficiency, common variable, 2	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 207552628.	NM_012452.3(TNFRSF13B):c.199+8C>T GRCh37: Chr17:16855752 GRCh38: Chr17:16952438	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 207521529.	NM_012452.3(TNFRSF13B):c.635A>C (p.His212Pro) GRCh37: Chr17:16843108 GRCh38: Chr17:16939794	TNFRSF13B	H212P	Immunodeficiency, common variable, 2	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 204817830.	NM_012452.3(TNFRSF13B):c.61+7A>C GRCh37: Chr17:16875322 GRCh38: Chr17:16972008	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 204813131.	NM_012452.3(TNFRSF13B):c.91A>G (p.Met31Val) GRCh37: Chr17:16855868 GRCh38: Chr17:16952554	TNFRSF13B	M31V	Immunodeficiency, common variable, 2	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 203758132.	NM_012452.3(TNFRSF13B):c.96A>T (p.Arg32Ser) GRCh37: Chr17:16855863 GRCh38: Chr17:16952549	TNFRSF13B	R32S	Immunodeficiency, common variable, 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 203240233.	NM_012452.3(TNFRSF13B):c.357G>A (p.Arg119=) GRCh37: Chr17:16852140 GRCh38: Chr17:16948826	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 202670834.	NM_012452.3(TNFRSF13B):c.813C>T (p.Cys271=) GRCh37: Chr17:16842930 GRCh38: Chr17:16939616	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 200971135.	NM_012452.3(TNFRSF13B):c.303A>C (p.Ala101=) GRCh37: Chr17:16852194 GRCh38: Chr17:16948880	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200433236.	NM_012452.3(TNFRSF13B):c.722C>A (p.Thr241Lys) GRCh37: Chr17:16843021 GRCh38: Chr17:16939707	TNFRSF13B	T241K	Immunodeficiency, common variable, 2	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 199998637.	NM_012452.3(TNFRSF13B):c.865G>A (p.Gly289Arg) GRCh37: Chr17:16842878 GRCh38: Chr17:16939564	TNFRSF13B	G289R	Immunodeficiency, common variable, 2	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199850638.	NM_012452.3(TNFRSF13B):c.391G>A (p.Asp131Asn) GRCh37: Chr17:16852106 GRCh38: Chr17:16948792	TNFRSF13B	D131N	Immunodeficiency, common variable, 2	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 199810039.	NM_012452.3(TNFRSF13B):c.555C>T (p.Phe185=) GRCh37: Chr17:16843716 GRCh38: Chr17:16940402	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 199461840.	NM_012452.3(TNFRSF13B):c.102C>T (p.Cys34=) GRCh37: Chr17:16855857 GRCh38: Chr17:16952543	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 198705341.	NM_012452.3(TNFRSF13B):c.615G>A (p.Pro205=) GRCh37: Chr17:16843656 GRCh38: Chr17:16940342	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 198318642.	NM_012452.3(TNFRSF13B):c.146C>T (p.Ser49Phe) GRCh37: Chr17:16855813 GRCh38: Chr17:16952499	TNFRSF13B	S49F	Immunodeficiency, common variable, 2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 197480043.	NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter) GRCh37: Chr17:16852191 GRCh38: Chr17:16948877	TNFRSF13B	Y102*	Immunodeficiency, common variable, 2	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 196782144.	NM_012452.3(TNFRSF13B):c.141C>T (p.Cys47=) GRCh37: Chr17:16855818 GRCh38: Chr17:16952504	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 196474145.	NM_012452.3(TNFRSF13B):c.428G>A (p.Gly143Asp) GRCh37: Chr17:16852069 GRCh38: Chr17:16948755	TNFRSF13B	G143D	Immunodeficiency, common variable, 2	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 195789446.	NM_012452.3(TNFRSF13B):c.778G>A (p.Gly260Arg) GRCh37: Chr17:16842965 GRCh38: Chr17:16939651	TNFRSF13B	G260R	Immunodeficiency, common variable, 2	Uncertain significance (Feb 26, 2022)	criteria provided, single submitter
Select item 194554447.	NM_012452.3(TNFRSF13B):c.131T>C (p.Leu44Pro) GRCh37: Chr17:16855828 GRCh38: Chr17:16952514	TNFRSF13B	L44P	Immunodeficiency, common variable, 2	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 192171248.	NM_012452.3(TNFRSF13B):c.437C>T (p.Ala146Val) GRCh37: Chr17:16852060 GRCh38: Chr17:16948746	TNFRSF13B	A146V	Immunodeficiency, common variable, 2	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 191360749.	NM_012452.3(TNFRSF13B):c.445+10C>T GRCh37: Chr17:16852042 GRCh38: Chr17:16948728	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 191091050.	NM_012452.3(TNFRSF13B):c.309C>G (p.Phe103Leu) GRCh37: Chr17:16852188 GRCh38: Chr17:16948874	TNFRSF13B	F103L	Immunodeficiency, common variable, 2	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 191061251.	NM_012452.3(TNFRSF13B):c.498G>A (p.Thr166=) GRCh37: Chr17:16843773 GRCh38: Chr17:16940459	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 171530752.	NM_012452.3(TNFRSF13B):c.548C>G (p.Ala183Gly) GRCh37: Chr17:16843723 GRCh38: Chr17:16940409	TNFRSF13B	A183G	Immunodeficiency, common variable, 2	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 171365853.	NM_012452.3(TNFRSF13B):c.811T>C (p.Cys271Arg) GRCh37: Chr17:16842932 GRCh38: Chr17:16939618	TNFRSF13B	C271R	Immunodeficiency, common variable, 2	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 169671454.	NM_012452.3(TNFRSF13B):c.788C>T (p.Thr263Ile) GRCh37: Chr17:16842955 GRCh38: Chr17:16939641	TNFRSF13B	T263I	Immunodeficiency, common variable, 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 169483055.	NM_012452.3(TNFRSF13B):c.266G>A (p.Cys89Tyr) GRCh37: Chr17:16852231 GRCh38: Chr17:16948917	TNFRSF13B	C89Y	Immunodeficiency, common variable, 2, not provided	Uncertain significance (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167301056.	NM_012452.3(TNFRSF13B):c.744T>G (p.Pro248=) GRCh37: Chr17:16842999 GRCh38: Chr17:16939685	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 167268157.	NM_012452.3(TNFRSF13B):c.75G>A (p.Leu25=) GRCh37: Chr17:16855884 GRCh38: Chr17:16952570	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 167014758.	NM_012452.3(TNFRSF13B):c.446-20G>A GRCh37: Chr17:16843845 GRCh38: Chr17:16940531	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 165966959.	NM_012452.3(TNFRSF13B):c.62-9G>A GRCh37: Chr17:16855906 GRCh38: Chr17:16952592	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 164526060.	NM_012452.3(TNFRSF13B):c.207C>A (p.Leu69=) GRCh37: Chr17:16852290 GRCh38: Chr17:16948976	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (May 10, 2021)	criteria provided, single submitter
Select item 164496761.	NM_012452.3(TNFRSF13B):c.723G>T (p.Thr241=) GRCh37: Chr17:16843020 GRCh38: Chr17:16939706	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Apr 2, 2021)	criteria provided, single submitter
Select item 162810862.	NM_012452.3(TNFRSF13B):c.327G>A (p.Arg109=) GRCh37: Chr17:16852170 GRCh38: Chr17:16948856	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 162411663.	NM_012452.3(TNFRSF13B):c.870C>T (p.Gly290=) GRCh37: Chr17:16842873 GRCh38: Chr17:16939559	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 162101764.	NM_012452.3(TNFRSF13B):c.465G>A (p.Leu155=) GRCh37: Chr17:16843806 GRCh38: Chr17:16940492	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 159983465.	NM_012452.3(TNFRSF13B):c.570G>A (p.Gly190=) GRCh37: Chr17:16843701 GRCh38: Chr17:16940387	TNFRSF13B		Immunodeficiency, common variable, 2	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 159369466.	NM_012452.3(TNFRSF13B):c.61+11G>A GRCh37: Chr17:16875318 GRCh38: Chr17:16972004	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 159081567.	NM_012452.3(TNFRSF13B):c.489C>A (p.Val163=) GRCh37: Chr17:16843782 GRCh38: Chr17:16940468	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 158833268.	NM_012452.3(TNFRSF13B):c.632-10G>A GRCh37: Chr17:16843121 GRCh38: Chr17:16939807	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 156485369.	NM_012452.3(TNFRSF13B):c.61+11G>C GRCh37: Chr17:16875318 GRCh38: Chr17:16972004	TNFRSF13B		not specified, Immunodeficiency, common variable, 2	Benign/Likely benign (May 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 156143570.	NM_012452.3(TNFRSF13B):c.774G>A (p.Arg258=) GRCh37: Chr17:16842969 GRCh38: Chr17:16939655	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 155572771.	NM_012452.3(TNFRSF13B):c.200-7C>G GRCh37: Chr17:16852304 GRCh38: Chr17:16948990	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 155188772.	NM_012452.3(TNFRSF13B):c.484C>T (p.Leu162=) GRCh37: Chr17:16843787 GRCh38: Chr17:16940473	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 154621373.	NM_012452.3(TNFRSF13B):c.631+10T>C GRCh37: Chr17:16843630 GRCh38: Chr17:16940316	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 153673174.	NM_012452.3(TNFRSF13B):c.231G>A (p.Lys77=) GRCh37: Chr17:16852266 GRCh38: Chr17:16948952	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 152618775.	NM_012452.3(TNFRSF13B):c.842_857del (p.Ile281fs) GRCh37: Chr17:16842886-16842901 GRCh38: Chr17:16939572-16939587	TNFRSF13B	I281fs	Immunodeficiency, common variable, 2	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 152276276.	NM_012452.3(TNFRSF13B):c.60C>G (p.Arg20=) GRCh37: Chr17:16875330 GRCh38: Chr17:16972016	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 152238277.	NM_012452.3(TNFRSF13B):c.121G>A (p.Asp41Asn) GRCh37: Chr17:16855838 GRCh38: Chr17:16952524	TNFRSF13B	D41N	Immunodeficiency, common variable, 2	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 151593878.	NM_012452.3(TNFRSF13B):c.467G>A (p.Ser156Asn) GRCh37: Chr17:16843804 GRCh38: Chr17:16940490	TNFRSF13B	S156N	Immunodeficiency, common variable, 2	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 150752679.	NM_012452.3(TNFRSF13B):c.787A>G (p.Thr263Ala) GRCh37: Chr17:16842956 GRCh38: Chr17:16939642	TNFRSF13B	T263A	Immunodeficiency, common variable, 2	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 150032880.	NM_012452.3(TNFRSF13B):c.215G>T (p.Arg72Leu) GRCh37: Chr17:16852282 GRCh38: Chr17:16948968	TNFRSF13B	R72L	Immunodeficiency, common variable, 2	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 148475281.	NM_012452.3(TNFRSF13B):c.263G>A (p.Ser88Asn) GRCh37: Chr17:16852234 GRCh38: Chr17:16948920	TNFRSF13B	S88N	Immunodeficiency, common variable, 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 147672682.	NM_012452.3(TNFRSF13B):c.445+4A>C GRCh37: Chr17:16852048 GRCh38: Chr17:16948734	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 146532383.	NM_012452.3(TNFRSF13B):c.241C>A (p.His81Asn) GRCh37: Chr17:16852256 GRCh38: Chr17:16948942	TNFRSF13B	H81N	Immunodeficiency, common variable, 2	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 146322084.	NM_012452.3(TNFRSF13B):c.565A>G (p.Arg189Gly) GRCh37: Chr17:16843706 GRCh38: Chr17:16940392	TNFRSF13B	R189G	Immunodeficiency, common variable, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146289185.	NM_012452.3(TNFRSF13B):c.446-19G>T GRCh37: Chr17:16843844 GRCh38: Chr17:16940530	TNFRSF13B		Immunodeficiency, common variable, 2	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 146225386.	NM_012452.3(TNFRSF13B):c.3G>T (p.Met1Ile) GRCh37: Chr17:16875387 GRCh38: Chr17:16972073	TNFRSF13B	M1I	Immunodeficiency, common variable, 2	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 146186287.	NM_012452.3(TNFRSF13B):c.649G>A (p.Gly217Ser) GRCh37: Chr17:16843094 GRCh38: Chr17:16939780	TNFRSF13B	G217S	Immunodeficiency, common variable, 2	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 145681688.	NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs) GRCh37: Chr17:16852198-16852199 GRCh38: Chr17:16948884-16948885	TNFRSF13B	C100fs	Immunodeficiency, common variable, 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 145544089.	NM_012452.3(TNFRSF13B):c.61+1G>A GRCh37: Chr17:16875328 GRCh38: Chr17:16972014	TNFRSF13B		Immunodeficiency, common variable, 2, Immunoglobulin A deficiency 2, Immunodeficiency, common variable, 2	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144683190.	NM_012452.3(TNFRSF13B):c.431C>T (p.Ser144Leu) GRCh37: Chr17:16852066 GRCh38: Chr17:16948752	TNFRSF13B	S144L	Immunodeficiency, common variable, 2	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 144181191.	NM_012452.3(TNFRSF13B):c.132G>A (p.Leu44=) GRCh37: Chr17:16855827 GRCh38: Chr17:16952513	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 144076592.	NC_000017.10:g.(?_16875309)_(16875389_?)dup GRCh37: Chr17:16875309-16875389	TNFRSF13B		Immunodeficiency, common variable, 2	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 143875793.	NM_012452.3(TNFRSF13B):c.275T>A (p.Ile92Asn) GRCh37: Chr17:16852222 GRCh38: Chr17:16948908	TNFRSF13B	I92N	Immunodeficiency, common variable, 2	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 143859594.	NM_012452.3(TNFRSF13B):c.584G>T (p.Cys195Phe) GRCh37: Chr17:16843687 GRCh38: Chr17:16940373	TNFRSF13B	C195F	Immunodeficiency, common variable, 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 143781395.	NM_012452.3(TNFRSF13B):c.121G>C (p.Asp41His) GRCh37: Chr17:16855838 GRCh38: Chr17:16952524	TNFRSF13B	D41H	Immunodeficiency, common variable, 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 143617296.	NM_012452.3(TNFRSF13B):c.61+2T>C GRCh37: Chr17:16875327 GRCh38: Chr17:16972013	TNFRSF13B		Immunodeficiency, common variable, 2	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 143417197.	NM_012452.3(TNFRSF13B):c.226G>T (p.Gly76Cys) GRCh37: Chr17:16852271 GRCh38: Chr17:16948957	TNFRSF13B	G76C	Immunodeficiency, common variable, 2	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 143228698.	NM_012452.3(TNFRSF13B):c.639del (p.Met214fs) GRCh37: Chr17:16843104 GRCh38: Chr17:16939790	TNFRSF13B	M214fs	Immunodeficiency, common variable, 2	Uncertain significance (Jan 30, 2021)	criteria provided, single submitter
Select item 143023699.	NM_001770.6(CD19):c.1035G>C (p.Gln345His) GRCh37: Chr16:28947872 GRCh38: Chr16:28936551	CD19	Q256H, Q345H	Immunodeficiency, common variable, 3, Immunodeficiency, common variable, 2, not provided	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1426845100.	NM_012452.3(TNFRSF13B):c.357G>C (p.Arg119Ser) GRCh37: Chr17:16852140 GRCh38: Chr17:16948826	TNFRSF13B	R119S	Immunodeficiency, common variable, 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter

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