"Genome-Nilou Lab"[submitter] AND "DCLRE1C"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1255460	NM_001193424.2(SUV39H2):c.850-305C>T	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 468484	NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)	DCLRE1C (S515fs +2 more)	Duplication (frameshift variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 643878	NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly)	DCLRE1C (E518G +2 more)	Single nucleotide variant (missense variant +2 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 468482	NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val)	DCLRE1C (E462V +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +2 more	GUncertain significance
Select item 299315	NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1199355	NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala)	DCLRE1C (S297A +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 257181	NM_001033855.3(DCLRE1C):c.780+10C>T	DCLRE1C	Single nucleotide variant (intron variant)	not specified +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)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 36000	NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
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 1131805	NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
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
Select item 1177627	NM_001033855.3(DCLRE1C):c.109+176G>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign
Select item 1199335	NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu)	DCLRE1C (G6E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database