ClinVar for MedGen (Select 1648483) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2796548	NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)	ZNF341 (R9* +1 more)	Single nucleotide variant (missense variant +2 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1675155	NM_001282933.2(ZNF341):c.481C>T (p.Pro161Ser)	ZNF341 (P161S +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	GUncertain significance
Select item 1649563	NM_001282933.2(ZNF341):c.2542G>A (p.Val848Ile)	ZNF341, ZNF341-AS1 (V758I +2 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1339529	NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg)	ZNF341 (C262R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	GLikely pathogenic
Select item 1168992	NM_001282933.2(ZNF341):c.366G>A (p.Pro122=)	ZNF341	Single nucleotide variant (synonymous variant +1 more)	ZNF341-related condition +2 more	GBenign
Select item 1168605	NM_001282933.2(ZNF341):c.340-20C>G	ZNF341	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +1 more	GBenign/Likely benign
Select item 1168180	NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser)	ZNF341 (P185S +1 more)	Single nucleotide variant (missense variant +1 more)	ZNF341-related condition +2 more	GBenign/Likely benign
Select item 1165798	NM_001282933.2(ZNF341):c.2505T>C (p.Ala835=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	ZNF341-related condition +3 more	GBenign
Select item 1031001	NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr)	ZNF341 (A304T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1031000	NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val)	ZNF341 (A40V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1017649	NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys)	ZNF341, ZNF341-AS1 (E764K +2 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive +1 more	GUncertain significance
Select item 1012482	NM_001282933.2(ZNF341):c.2117C>T (p.Thr706Met)	ZNF341, ZNF341-AS1 (T616M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 599414	NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter)	ZNF341 (Q195* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	GPathogenic
Select item 599413	NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter)	ZNF341 (Y542* +2 more)	Single nucleotide variant (nonsense)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	GPathogenic
Select item 599412	NM_001282933.2(ZNF341):c.1083del (p.Lys362fs)	ZNF341 (K272fs +2 more)	Deletion (frameshift variant +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	GPathogenic
Select item 599411	NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter)	ZNF341 (R386* +2 more)	Single nucleotide variant (nonsense +1 more)	Hyper-IgE recurrent infection syndrome 3, autosomal recessive	GPathogenic
Select item 599410	NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)	ZNF341 (R302* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic