ClinVar for MedGen (Select 356040) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13501131.	NM_021175.4(HAMP):c.223C>T (p.Arg75Ter) GRCh37: Chr19:35775913 GRCh38: Chr19:35285010	HAMP	R75*	Hemochromatosis type 2B, Hereditary hemochromatosis	Likely pathogenic (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9174012.	NM_021175.4(HAMP):c.176G>C (p.Arg59Pro) GRCh37: Chr19:35775866 GRCh38: Chr19:35284963	HAMP	R59P	Hemochromatosis type 2B	Pathogenic (Jul 16, 2019)	no assertion criteria provided
Select item 8918803.	NM_021175.4(HAMP):c.223C>G (p.Arg75Gly) GRCh37: Chr19:35775913 GRCh38: Chr19:35285010	HAMP	R75G	Hemochromatosis type 2B	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 8918794.	NM_021175.4(HAMP):c.189C>T (p.Phe63=) GRCh37: Chr19:35775879 GRCh38: Chr19:35284976	HAMP		Hemochromatosis type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8918785.	NM_021175.4(HAMP):c.167G>A (p.Arg56Gln) GRCh37: Chr19:35775857 GRCh38: Chr19:35284954	HAMP	R56Q	Inborn genetic diseases, Hemochromatosis type 2B	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8712326.	NM_021175.4(HAMP):c.-153C>T GRCh37: Chr19:35773328 GRCh38: Chr19:35282425	HAMP		Hereditary hemochromatosis, not provided, Hemochromatosis type 2B	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 4140027.	NM_021175.4(HAMP):c.150+7G>A GRCh37: Chr19:35775758 GRCh38: Chr19:35284855	HAMP		Hemochromatosis type 2B, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 3288368.	NM_021175.4(HAMP):c.-1G>A GRCh37: Chr19:35773480 GRCh38: Chr19:35282577	HAMP		Hemochromatosis type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 2197709.	NM_021175.4(HAMP):c.252G>A (p.Thr84=) GRCh37: Chr19:35775942 GRCh38: Chr19:35285039	HAMP		Hereditary hemochromatosis, not specified, Hemochromatosis type 2B	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 21687610.	NM_021175.4(HAMP):c.92C>T (p.Thr31Met) GRCh37: Chr19:35775693 GRCh38: Chr19:35284790	HAMP	T31M	Hereditary hemochromatosis, Hemochromatosis type 2B	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 428711.	NM_021175.4(HAMP):c.-25G>A GRCh37: Chr19:35773456 GRCh38: Chr19:35282553	HAMP		Hemochromatosis type 2B	Pathogenic (Oct 1, 2004)	no assertion criteria provided
Select item 428612.	NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) GRCh37: Chr19:35775902 GRCh38: Chr19:35284999	HAMP	G71D	Hemochromatosis type 1, Hereditary hemochromatosis, not specified, Hemochromatosis type 2B	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 428413.	NM_021175.4(HAMP):c.166C>T (p.Arg56Ter) GRCh37: Chr19:35775856 GRCh38: Chr19:35284953	HAMP	R56*	Hemochromatosis type 2B	Pathogenic (Jan 1, 2003)	no assertion criteria provided
Select item 428314.	NM_021175.4(HAMP):c.95del (p.Gly32fs) GRCh37: Chr19:35775694 GRCh38: Chr19:35284791	HAMP	G32fs	Hemochromatosis type 2B	Pathogenic (Jan 1, 2003)	no assertion criteria provided