"PreventionGenetics, part of Exact Sciences"[submitter] AND "DCLRE1C"[ - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043912	NM_001193424.2(SUV39H2):c.850-295C>G	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	SUV39H2-related disorder	GLikely benign
Select item 3042857	NM_001193424.2(SUV39H2):c.850-256G>A	DCLRE1C, SUV39H2	Single nucleotide variant (synonymous variant +2 more)	DCLRE1C-related condition	GLikely benign
Select item 194347	NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +4 more	GBenign/Likely benign
Select item 771619	NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 299313	NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	DCLRE1C-related condition +2 more	GBenign/Likely benign
Select item 1556238	NM_001033855.3(DCLRE1C):c.1437G>C (p.Leu479=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	DCLRE1C-related condition +1 more	GLikely benign
Select item 430113	NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del)	DCLRE1C (E462del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287735	NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)	DCLRE1C (K428N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 3053970	NM_001033855.3(DCLRE1C):c.918-4T>C	DCLRE1C	Single nucleotide variant (intron variant)	DCLRE1C-related condition	GLikely benign
Select item 257181	NM_001033855.3(DCLRE1C):c.780+10C>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +3 more	GBenign
Select item 257180	NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg)	DCLRE1C (H243R +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +3 more	GBenign
Select item 712335	NM_001033855.3(DCLRE1C):c.679-6C>T	DCLRE1C	Single nucleotide variant (intron variant)	DCLRE1C-related condition +1 more	GLikely benign
Select item 36000	NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 703050	NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	DCLRE1C-related condition +1 more	GLikely benign
Select item 35999	NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)	DCLRE1C (P171R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 299322	NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)	DCLRE1C (V57F)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database