ClinVar for MedGen (Select 383874) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24315551.	NM_006389.5(HYOU1):c.1527-20C>G GRCh37: Chr11:118921905 GRCh38: Chr11:119051193	HYOU1		Granulocytopenia with immunoglobulin abnormality	Uncertain significance (Feb 3, 2023)	criteria provided, single submitter
Select item 24315022.	NM_006389.5(HYOU1):c.1309G>A (p.Val437Ile) GRCh37: Chr11:118922560 GRCh38: Chr11:119051848	HYOU1	V437I	Granulocytopenia with immunoglobulin abnormality	Uncertain significance (Feb 3, 2023)	criteria provided, single submitter
Select item 16750883.	NM_006389.5(HYOU1):c.1382G>C (p.Ser461Thr) GRCh37: Chr11:118922294 GRCh38: Chr11:119051582	HYOU1	S461T	Granulocytopenia with immunoglobulin abnormality	Uncertain significance (Mar 15, 2021)	criteria provided, single submitter
Select item 13747354.	NM_006389.5(HYOU1):c.293G>A (p.Arg98His) GRCh37: Chr11:118926023 GRCh38: Chr11:119055311	HYOU1	R98H	Granulocytopenia with immunoglobulin abnormality, not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12852475.	NM_006389.5(HYOU1):c.1726+36A>G GRCh37: Chr11:118920453 GRCh38: Chr11:119049741	HYOU1		Granulocytopenia with immunoglobulin abnormality	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 11684926.	NM_006389.5(HYOU1):c.2235A>G (p.Ala745=) GRCh37: Chr11:118919206 GRCh38: Chr11:119048494	HYOU1		Granulocytopenia with immunoglobulin abnormality, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11673897.	NM_006389.5(HYOU1):c.2888-13C>G GRCh37: Chr11:118916556 GRCh38: Chr11:119045844	HYOU1		Granulocytopenia with immunoglobulin abnormality, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11643008.	NM_006389.5(HYOU1):c.543C>T (p.Asn181=) GRCh37: Chr11:118925341 GRCh38: Chr11:119054629	HYOU1		Granulocytopenia with immunoglobulin abnormality, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7193639.	NM_006389.5(HYOU1):c.2031C>T (p.Val677=) GRCh37: Chr11:118919560 GRCh38: Chr11:119048848	HYOU1		Granulocytopenia with immunoglobulin abnormality, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59920110.	NM_006389.5(HYOU1):c.1255G>C (p.Ala419Pro) GRCh37: Chr11:118922614 GRCh38: Chr11:119051902	HYOU1	A419P	Granulocytopenia with immunoglobulin abnormality	Pathogenic (Jan 21, 2021)	no assertion criteria provided
Select item 59920011.	NM_006389.5(HYOU1):c.691T>C (p.Tyr231His) GRCh37: Chr11:118924936 GRCh38: Chr11:119054224	HYOU1		Granulocytopenia with immunoglobulin abnormality	Pathogenic (Dec 20, 2018)	no assertion criteria provided