artemis comaiensis - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

The following term was not found in ClinVar: comaiensis.
Showing results for Artemisia comaiensis. Your search for Artemisia comaiensis retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1375767	NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter)	OBSL1 (R1308*)	Single nucleotide variant (nonsense)	OBSL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 154322	NM_006904.7(PRKDC):c.9185T>G (p.Leu3062Arg)	PRKDC (L3062R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GPathogenic
Select item 4675	NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)	DCLRE1C (D451fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis +1 more	GPathogenic
Select item 4668	NM_001033855.3(DCLRE1C):c.972+1G>C	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 4669	NM_001033855.3(DCLRE1C):c.917+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 4671	NM_001033855.3(DCLRE1C):c.780+1del	DCLRE1C	Deletion (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
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 4667	NG_007276.1:g.(19287_22502)_(23634_24320)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 986350	NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	DCLRE1C (D136N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 4670	NM_001033855.3(DCLRE1C):c.362+1G>T	DCLRE1C	Single nucleotide variant (intron variant +2 more)	Histiocytic medullary reticulosis	GPathogenic
Select item 1713265	NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	DCLRE1C (C116R)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic 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 254217	NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)	DCLRE1C (T65I)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 4677	NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)	DCLRE1C (M1T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 88673	NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4 (R496C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 4676	DCLRE1C, 17-BP DEL	DCLRE1C	Deletion	Severe combined immunodeficiency, partial	GPathogenic
Select item 4672	NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 4666	NG_007276.1:g.(?_5047)_(19287_22502)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic