ClinVar for MedGen (Select 1803642) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25778731.	NM_001375.3(DNASE2):c.157T>C (p.Tyr53His) GRCh37: Chr19:12991896 GRCh38: Chr19:12881082	DNASE2, LOC117125588	Y53H	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	Uncertain significance	criteria provided, single submitter
Select item 16869012.	NM_001375.3(DNASE2):c.284A>G (p.Tyr95Cys) GRCh37: Chr19:12991678 GRCh38: Chr19:12880864	DNASE2		Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	Pathogenic (Apr 29, 2022)	no assertion criteria provided
Select item 16869003.	NM_001375.3(DNASE2):c.362A>T (p.Asp121Val) GRCh37: Chr19:12989633 GRCh38: Chr19:12878819	DNASE2	D121V	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	Pathogenic (Apr 29, 2022)	no assertion criteria provided
Select item 16868994.	NM_001375.3(DNASE2):c.347G>C (p.Gly116Ala) GRCh37: Chr19:12989648 GRCh38: Chr19:12878834	DNASE2	G116A	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	Pathogenic (Apr 29, 2022)	no assertion criteria provided
Select item 14932585.	NM_001375.3(DNASE2):c.995C>A (p.Ala332Asp) GRCh37: Chr19:12986892 GRCh38: Chr19:12876078	DNASE2	A332D	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, not provided	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts

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