"GeneDx"[submitter] AND "DCLRE1C"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	RPP38-DT, SUV39H2 +23 more	Copy number gain	See cases	GPathogenic
Select item 384912	NM_001033855.3(DCLRE1C):c.*4T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
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 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	GBenign FDA 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 2572827	NM_001033855.3(DCLRE1C):c.1732T>C (p.Tyr578His)	DCLRE1C (Y458H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 137074	NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 430113	NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del)	DCLRE1C (E462del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 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 468481	NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GBenign/Likely benign
Select item 299316	NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)	DCLRE1C (L329M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 137073	NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)	DCLRE1C (S320C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 1166419	NM_001033855.3(DCLRE1C):c.781-17C>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GBenign
Select item 257181	NM_001033855.3(DCLRE1C):c.780+10C>T	DCLRE1C	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 299319	NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile)	DCLRE1C (T246I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 4673	NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	DCLRE1C (Y199* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
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 35998	NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	DCLRE1C (G153R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 418159	NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val)	DCLRE1C (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 522770	NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)	DCLRE1C (P117L)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 4665	NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	DCLRE1C (R81*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 379076	NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr)	DCLRE1C (R76T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 1297202	NM_001033855.3(DCLRE1C):c.161+119A>G	DCLRE1C	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 27