CN375631[trait identifier] AND "ClinGen Severe Combined Immunodeficien - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304491	NM_000448.3(RAG1):c.1A>G (p.Met1Val)	RAG1 (M1V)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 971195	NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)	RAG1 (F5L)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 2098676	NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)	RAG1 (P6L)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 1515226	NM_000448.3(RAG1):c.29G>T (p.Gly10Val)	RAG1 (G10V)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 304492	NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)	RAG1 (S13A)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 1348464	NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)	RAG1 (A14T)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 2269371	NM_000448.3(RAG1):c.76T>C (p.Ser26Pro)	RAG1 (S26P)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 843919	NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)	RAG1 (W28R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 2079766	NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)	RAG1 (K29R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 378467	NM_000448.3(RAG1):c.251A>G (p.His84Arg)	RAG1 (H84R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 285045	NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	RAG1	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 138882	NM_000448.3(RAG1):c.303G>A (p.Ala101=)	RAG1	Single nucleotide variant (synonymous variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 626157	NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	RAG1 (R142*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 879138	NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)	RAG1 (D162E)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely benignFDA Recognized database
Select item 372487	NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)	RAG1 (C176F)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 304495	NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)	RAG1 (E193K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 536967	NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)	RAG1 (Q242R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely benignFDA Recognized database
Select item 403361	NM_000448.3(RAG1):c.746A>G (p.His249Arg)	RAG1 (H249R)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 235411	NM_000448.3(RAG1):c.775del (p.Ser259fs)	RAG1 (S259fs)	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 36715	NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)	RAG1 (D302E)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 449383	NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)	RAG1 (Y333*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 583401	NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)	RAG1 (M355T)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 936307	NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)	RAG1 (C363Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 68681	NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)	RAG1 (A444V)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 256188	NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)	RAG1 (R449K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 785784	NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser)	RAG1 (P525S)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 68689	NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)	RAG1 (R699W)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely pathogenicFDA Recognized database
Select item 1050623	NM_000448.3(RAG1):c.2291G>A (p.Arg764His)	RAG1 (R764H)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 418449	NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)	RAG1 (E814D)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 256189	NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)	RAG1 (K820R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 1034220	NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer)	RAG1	Indel (nonsense)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 36712	NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)	RAG1 (A868V)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 138884	NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)	RAG1 (E880K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenignFDA Recognized database
Select item 418451	NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)	RAG1 (R897Q)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 304506	NM_000448.3(RAG1):c.2751G>A (p.Gln917=)	RAG1	Single nucleotide variant (synonymous variant)	Recombinase activating gene 1 deficiency	GLikely benignFDA Recognized database
Select item 13141	NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter)	RAG1 (Y938*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GLikely pathogenicFDA Recognized database
Select item 967900	NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)	RAG1 (W959*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GPathogenicFDA Recognized database
Select item 36713	NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)	RAG1 (N968K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38