ClinVar for MedGen (Select 1648483) - ClinVar - NCBI

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Items: 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16751551.	NM_001282933.2(ZNF341):c.481C>T (p.Pro161Ser) GRCh37: Chr20:32336870 GRCh38: Chr20:33749064	ZNF341	P161S, P71S	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Uncertain significance (Mar 15, 2021)	criteria provided, single submitter
Select item 16495632.	NM_001282933.2(ZNF341):c.2542G>A (p.Val848Ile) GRCh37: Chr20:32379300 GRCh38: Chr20:33791494	ZNF341, ZNF341-AS1	V758I, V841I, V848I	not provided, Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Conflicting interpretations of pathogenicity (Jan 18, 2023)	criteria provided, conflicting interpretations
Select item 13395293.	NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg) GRCh37: Chr20:32349693 GRCh38: Chr20:33761887	ZNF341	C262R, C345R, C352R	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 11689924.	NM_001282933.2(ZNF341):c.366G>A (p.Pro122=) GRCh37: Chr20:32336755 GRCh38: Chr20:33748949	ZNF341		not provided, Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11686055.	NM_001282933.2(ZNF341):c.340-20C>G GRCh37: Chr20:32336709 GRCh38: Chr20:33748903	ZNF341		Hyper-IgE recurrent infection syndrome 3, autosomal recessive, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11681806.	NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser) GRCh37: Chr20:32341041 GRCh38: Chr20:33753235	ZNF341	P185S, P95S	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11657987.	NM_001282933.2(ZNF341):c.2505T>C (p.Ala835=) GRCh37: Chr20:32379263 GRCh38: Chr20:33791457	ZNF341, ZNF341-AS1		Hyper-IgE recurrent infection syndrome 3, autosomal recessive, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10310018.	NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr) GRCh37: Chr20:32345122 GRCh38: Chr20:33757316	ZNF341	A304T, A214T	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, Inborn genetic diseases, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10310009.	NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val) GRCh37: Chr20:32328795 GRCh38: Chr20:33740989	ZNF341	A40V, R16C	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, not provided	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101764910.	NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys) GRCh37: Chr20:32379318 GRCh38: Chr20:33791512	ZNF341, ZNF341-AS1	E764K, E847K, E854K	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101248211.	NM_001282933.2(ZNF341):c.2117C>T (p.Thr706Met) GRCh37: Chr20:32378875 GRCh38: Chr20:33791069	ZNF341, ZNF341-AS1	T616M, T699M, T706M	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 59941412.	NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter) GRCh37: Chr20:32341071 GRCh38: Chr20:33753265	ZNF341	Q195, Q105	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Pathogenic (May 29, 2019)	criteria provided, single submitter
Select item 59941313.	NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter) GRCh37: Chr20:32369121 GRCh38: Chr20:33781315	ZNF341	Y542, Y549, Y459*	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Pathogenic (May 29, 2019)	criteria provided, single submitter
Select item 59941214.	NM_001282933.2(ZNF341):c.1083del (p.Lys362fs) GRCh37: Chr20:32349722 GRCh38: Chr20:33761916	ZNF341	K272fs, K355fs, K362fs	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Pathogenic (Feb 4, 2019)	no assertion criteria provided
Select item 59941115.	NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter) GRCh37: Chr20:32349795 GRCh38: Chr20:33761989	ZNF341	R386, R379, R296*	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Pathogenic (May 29, 2019)	criteria provided, single submitter
Select item 59941016.	NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter) GRCh37: Chr20:32345116 GRCh38: Chr20:33757310	ZNF341	R302, R212	not provided, Hyper-IgE recurrent infection syndrome 3, autosomal recessive	Pathogenic (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts