ClinVar for MedGen (Select 462088) - ClinVar

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Items: 56

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24398141.	NM_001770.6(CD19):c.24C>A (p.Phe8Leu) GRCh37: Chr16:28943345 GRCh38: Chr16:28932024	CD19	F8L	Immunodeficiency, common variable, 3	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 16385532.	NM_001770.6(CD19):c.1487-11C>G GRCh37: Chr16:28949986 GRCh38: Chr16:28938665	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 14302363.	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 10338674.	NM_001770.6(CD19):c.228G>T (p.Arg76Ser) GRCh37: Chr16:28943806 GRCh38: Chr16:28932485	CD19	R76S	not provided, Immunodeficiency, common variable, 3	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9938075.	NM_001770.6(CD19):c.1486+18T>A GRCh37: Chr16:28949164 GRCh38: Chr16:28937843	CD19		not provided, Immunodeficiency, common variable, 3	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9736296.	NM_001770.6(CD19):c.47T>C (p.Met16Thr) GRCh37: Chr16:28943368 GRCh38: Chr16:28932047	CD19	M16T	Immunodeficiency, common variable, 3	Likely benign (May 21, 2020)	no assertion criteria provided
Select item 9736287.	NM_001770.6(CD19):c.854T>C (p.Leu285Pro) GRCh37: Chr16:28946783 GRCh38: Chr16:28935462	CD19	L285P	not provided	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 8883008.	NM_001770.6(CD19):c.988A>G (p.Thr330Ala) GRCh37: Chr16:28947515 GRCh38: Chr16:28936194	CD19	T330A	not provided, Immunodeficiency, common variable, 3	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8882999.	NM_001770.6(CD19):c.846C>A (p.His282Gln) GRCh37: Chr16:28946775 GRCh38: Chr16:28935454	CD19	H282Q	not provided, Immunodeficiency, common variable, 3	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88829810.	NM_001770.6(CD19):c.788G>A (p.Arg263His) GRCh37: Chr16:28944783 GRCh38: Chr16:28933462	CD19	R263H	not provided, Immunodeficiency, common variable, 3	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88703111.	NM_001770.6(CD19):c.687G>C (p.Glu229Asp) GRCh37: Chr16:28944682 GRCh38: Chr16:28933361	CD19	E229D	Immunodeficiency, common variable, 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88703012.	NM_001770.6(CD19):c.530G>C (p.Arg177Thr) GRCh37: Chr16:28944406 GRCh38: Chr16:28933085	CD19	R177T	Immunodeficiency, common variable, 3	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88702913.	NM_001770.6(CD19):c.488G>A (p.Arg163His) GRCh37: Chr16:28944364 GRCh38: Chr16:28933043	CD19	R163H	Immunodeficiency, common variable, 3, not provided	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88609514.	NM_001770.6(CD19):c.*204A>G GRCh37: Chr16:28950650 GRCh38: Chr16:28939329	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88603715.	NM_001770.6(CD19):c.323A>C (p.Gln108Pro) GRCh37: Chr16:28943901 GRCh38: Chr16:28932580	CD19	Q108P	Immunodeficiency, common variable, 3, not provided	Conflicting interpretations of pathogenicity (Jul 7, 2022)	criteria provided, conflicting interpretations
Select item 88603616.	NM_001770.6(CD19):c.246T>C (p.Leu82=) GRCh37: Chr16:28943824 GRCh38: Chr16:28932503	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88519417.	NM_001770.6(CD19):c.*65A>G GRCh37: Chr16:28950511 GRCh38: Chr16:28939190	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88519318.	NM_001770.6(CD19):c.1469G>A (p.Arg490Gln) GRCh37: Chr16:28949129 GRCh38: Chr16:28937808	CD19	R490Q	Immunodeficiency, common variable, 3, not provided	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88512519.	NM_001770.6(CD19):c.61G>C (p.Glu21Gln) GRCh37: Chr16:28943382 GRCh38: Chr16:28932061	CD19	E21Q	Immunodeficiency, common variable, 3, not provided	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82797320.	NM_001770.6(CD19):c.178C>T (p.Pro60Ser) GRCh37: Chr16:28943756 GRCh38: Chr16:28932435	CD19	P60S	not provided, Immunodeficiency, common variable, 3	Uncertain significance (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81156521.	NM_001770.6(CD19):c.1198+2T>G GRCh37: Chr16:28948459 GRCh38: Chr16:28937138	CD19		Immunodeficiency, common variable, 3	Likely pathogenic (Jul 5, 2018)	criteria provided, single submitter
Select item 72360322.	NM_001770.6(CD19):c.147G>A (p.Gln49=) GRCh37: Chr16:28943725 GRCh38: Chr16:28932404	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 63846623.	NM_001770.6(CD19):c.1042T>C (p.Tyr348His) GRCh37: Chr16:28947879 GRCh38: Chr16:28936558	CD19	Y348H, Y259H	Immunodeficiency, common variable, 3	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 63224724.	NM_001770.6(CD19):c.1635del (p.Gly546fs) GRCh37: Chr16:28950248 GRCh38: Chr16:28938927	CD19	G547fs, G457fs	not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Jul 30, 2021)	criteria provided, conflicting interpretations
Select item 31882325.	NM_001770.6(CD19):c.*180C>T GRCh37: Chr16:28950626 GRCh38: Chr16:28939305	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31882226.	NM_001770.6(CD19):c.*151G>A GRCh37: Chr16:28950597 GRCh38: Chr16:28939276	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31881727.	NM_001770.6(CD19):c.*100T>C GRCh37: Chr16:28950546 GRCh38: Chr16:28939225	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31881628.	NM_001770.6(CD19):c.*71C>T GRCh37: Chr16:28950517 GRCh38: Chr16:28939196	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31881529.	NM_001770.6(CD19):c.*37A>G GRCh37: Chr16:28950483 GRCh38: Chr16:28939162	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31881430.	NM_001770.6(CD19):c.*11G>A GRCh37: Chr16:28950295 GRCh38: Chr16:28938974	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31881331.	NM_001770.6(CD19):c.1580-4C>A GRCh37: Chr16:28950189 GRCh38: Chr16:28938868	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 31881232.	NM_001770.6(CD19):c.1580-14C>T GRCh37: Chr16:28950179 GRCh38: Chr16:28938858	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Apr 15, 2022)	criteria provided, conflicting interpretations
Select item 31881133.	NM_001770.6(CD19):c.1541G>A (p.Arg514His) GRCh37: Chr16:28950051 GRCh38: Chr16:28938730	CD19	R514H, R515H	not provided, not specified, Immunodeficiency, common variable, 3	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31881034.	NM_001770.6(CD19):c.1371C>T (p.Asn457=) GRCh37: Chr16:28948843 GRCh38: Chr16:28937522	CD19		not provided, Immunodeficiency, common variable, 3	Uncertain significance (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880935.	NM_001770.6(CD19):c.1311C>T (p.Ser437=) GRCh37: Chr16:28948783 GRCh38: Chr16:28937462	CD19		not provided, Immunodeficiency, common variable, 3	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880836.	NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) GRCh37: Chr16:28948667 GRCh38: Chr16:28937346	CD19	S425F, S336F	Immunodeficiency, common variable, 3, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 31880737.	NM_001770.6(CD19):c.1204G>A (p.Glu402Lys) GRCh37: Chr16:28948597 GRCh38: Chr16:28937276	CD19	E402K, E313K	not provided, Immunodeficiency, common variable, 3	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880638.	NM_001770.6(CD19):c.836-13C>G GRCh37: Chr16:28946752 GRCh38: Chr16:28935431	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 31880539.	NM_001770.6(CD19):c.705G>T (p.Pro235=) GRCh37: Chr16:28944700 GRCh38: Chr16:28933379	CD19		not provided, Immunodeficiency, common variable, 3	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880440.	NM_001770.6(CD19):c.527C>T (p.Pro176Leu) GRCh37: Chr16:28944403 GRCh38: Chr16:28933082	CD19	P176L, P87L	not provided, Immunodeficiency, common variable, 3	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880341.	NM_001770.6(CD19):c.520C>G (p.Leu174Val) GRCh37: Chr16:28944396 GRCh38: Chr16:28933075	CD19	L174V	not provided, not specified, Immunodeficiency, common variable, 3	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880242.	NM_001770.6(CD19):c.406C>T (p.Leu136=) GRCh37: Chr16:28944282 GRCh38: Chr16:28932961	CD19		not provided, Immunodeficiency, common variable, 3	Benign/Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31880143.	NM_001770.6(CD19):c.395T>G (p.Leu132Arg) GRCh37: Chr16:28944271 GRCh38: Chr16:28932950	CD19	L132R, L43R	not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 31880044.	NM_001770.6(CD19):c.390T>A (p.Gly130=) GRCh37: Chr16:28944266 GRCh38: Chr16:28932945	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 31879945.	NM_001770.6(CD19):c.384C>T (p.Asp128=) GRCh37: Chr16:28944260 GRCh38: Chr16:28932939	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 31879846.	NM_001770.6(CD19):c.381G>A (p.Ser127=) GRCh37: Chr16:28944257 GRCh38: Chr16:28932936	CD19		Immunodeficiency, common variable, 3, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31879747.	NM_001770.6(CD19):c.171G>A (p.Pro57=) GRCh37: Chr16:28943749 GRCh38: Chr16:28932428	CD19		not provided, Immunodeficiency, common variable, 3	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 31879648.	NM_001770.6(CD19):c.17T>G (p.Leu6Arg) GRCh37: Chr16:28943338 GRCh38: Chr16:28932017	CD19	L6R	Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31879549.	NM_001770.6(CD19):c.-16G>A GRCh37: Chr16:28943306 GRCh38: Chr16:28931985	CD19		Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25419750.	NM_001770.5(CD19):c.1653_*9delins23 GRCh37: Chr16:28950266-28950293 GRCh38: Chr16:28938945-28938972	CD19		Immunodeficiency, common variable, 3	Pathogenic (Sep 13, 2016)	no assertion criteria provided
Select item 25419651.	NM_001770.6(CD19):c.1464del (p.Ser489fs) GRCh37: Chr16:28949121 GRCh38: Chr16:28937800	CD19	S489fs, S400fs	Immunodeficiency, common variable, 3	Pathogenic (Sep 13, 2016)	no assertion criteria provided
Select item 25419552.	NM_001770.6(CD19):c.156G>C (p.Trp52Cys) GRCh37: Chr16:28943734 GRCh38: Chr16:28932413	CD19	W52C	Immunodeficiency, common variable, 3	Pathogenic (Sep 13, 2016)	no assertion criteria provided
Select item 25419453.	NM_001770.6(CD19):c.947-1G>T GRCh37: Chr16:28947473 GRCh38: Chr16:28936152	CD19		Immunodeficiency, common variable, 3	Pathogenic (Sep 13, 2016)	no assertion criteria provided
Select item 23552754.	NM_001770.6(CD19):c.835+3A>G GRCh37: Chr16:28944833 GRCh38: Chr16:28933512	CD19		not provided, Immunodeficiency, common variable, 3	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1805555.	NM_001770.6(CD19):c.1386_1387del (p.Asn463fs) GRCh37: Chr16:28948956-28948957 GRCh38: Chr16:28937635-28937636	CD19	N374fs, N463fs	Immunodeficiency, common variable, 3	Pathogenic (May 4, 2006)	no assertion criteria provided
Select item 1805456.	NM_001770.6(CD19):c.971dup (p.Arg325fs) GRCh37: Chr16:28947495-28947496 GRCh38: Chr16:28936174-28936175	CD19	R236fs, R325fs	Immunodeficiency, common variable, 3	Pathogenic (May 4, 2006)	no assertion criteria provided

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Items: 56