C2700553[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 4670	NM_001033855.3(DCLRE1C):c.362+1G>T	DCLRE1C	Single nucleotide variant (intron variant +2 more)	Histiocytic medullary reticulosis	GPathogenic
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 4674	NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	DCLRE1C (H35D)	Single nucleotide variant (missense variant +2 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 285045	NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	RAG1	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 624599	NM_000448.3(RAG1):c.519del (p.Glu174fs)	RAG1 (E174fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +2 more	GPathogenic
Select item 235411	NM_000448.3(RAG1):c.775del (p.Ser259fs)	RAG1 (S259fs)	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 13160	NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)	RAG1 (C328Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GPathogenic
Select item 13144	NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)	RAG1 (R396C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic
Select item 13146	NM_000448.3(RAG1):c.1187G>A (p.Arg396His)	RAG1 (R396H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GPathogenic
Select item 13147	NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly)	RAG1 (D429G)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GPathogenic
Select item 13150	NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)	RAG1 (I538fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GPathogenic
Select item 13148	NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)	RAG1 (R561C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 13143	NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	RAG1 (R561H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 13149	NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	RAG1 (R737H)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +4 more	GPathogenic/Likely pathogenic
Select item 13145	NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys)	RAG1 (Y912C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GPathogenic
Select item 13132	NM_000536.4(RAG2):c.854T>G (p.Met285Arg)	RAG2 (M285R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 13130	NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	RAG2 (R229Q)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 13135	NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	RAG2 (T215I)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GBenign FDA Recognized database
Select item 13133	NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	RAG2 (G95R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 13131	NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	RAG2 (C41W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic/Likely pathogenic
Select item 13136	NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	RAG2 (R39G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database

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Items: 24