"Eurofins Ntd Llc (ga)"[submitter] AND "DCLRE1C"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194347	NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 598004	NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys)	DCLRE1C (E632K +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenignFDA Recognized database
Select item 137075	NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 596802	NM_001033855.3(DCLRE1C):c.1710T>C (p.Ile570=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285435	NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194346	NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys)	DCLRE1C (R445C +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +2 more	GUncertain significance
Select item 499762	NM_001033855.3(DCLRE1C):c.1288A>G (p.Arg430Gly)	DCLRE1C (R430G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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	GBenignFDA Recognized database
Select item 286957	NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GConflicting classifications of pathogenicity
Select item 593945	NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp)	DCLRE1C (R360W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 288327	NM_001033855.3(DCLRE1C):c.526A>G (p.Ile176Val)	DCLRE1C (I176V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 592965	NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity