Related gene-specific medical variations for Gene (Select 5896) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362712	NM_000448.3(RAG1):c.865A>G (p.Lys289Glu)	RAG1 (K289E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 3240263	NM_000448.3(RAG1):c.1690_1691del (p.Ala565fs)	RAG1 (A565fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 3240262	NM_000448.3(RAG1):c.1583dup (p.Asn528fs)	RAG1 (N528fs)	Duplication (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 3240261	NM_000448.3(RAG1):c.160G>T (p.Glu54Ter)	RAG1 (E54*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 3064796	NM_000448.3(RAG1):c.2882G>T (p.Ser961Ile)	RAG1 (S961I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 2678210	NM_000448.3(RAG1):c.2803del (p.Ile935fs)	RAG1 (I935fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678209	NM_000448.3(RAG1):c.2623del (p.Ser875fs)	RAG1 (S875fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GPathogenic
Select item 2678206	NM_000448.3(RAG1):c.418_419del (p.Leu140fs)	RAG1 (L140fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678204	NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter)	RAG1 (Q407*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678203	NM_000448.3(RAG1):c.691C>T (p.Gln231Ter)	RAG1 (Q231*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GPathogenic
Select item 2678200	NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter)	RAG1 (Q833*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678198	NM_000448.3(RAG1):c.820dup (p.Leu274fs)	RAG1 (L274fs)	Duplication (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678197	NM_000448.3(RAG1):c.371del (p.Asn124fs)	RAG1 (N124fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678196	NM_000448.3(RAG1):c.1137del (p.His379fs)	RAG1 (H379fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2678194	NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)	RAG1 (Q61*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2432921	NM_000448.3(RAG1):c.705dup (p.Leu236fs)	RAG1 (L236fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1120224	NM_000448.3(RAG1):c.1460T>G (p.Met487Arg)	RAG1 (M487R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GPathogenic
Select item 813636	NM_000448.3(RAG1):c.2473T>G (p.Ser825Ala)	RAG1 (S825A)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 636822	NM_000448.3(RAG1):c.2240A>C (p.His747Pro)	RAG1 (H747P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 636621	NM_000448.3(RAG1):c.2161C>G (p.Leu721Val)	RAG1 (L721V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 636565	NM_000448.3(RAG1):c.1618G>A (p.Gly540Arg)	RAG1 (G540R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636558	NM_000448.3(RAG1):c.1993G>A (p.Glu665Lys)	RAG1 (E665K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624605	NM_000448.3(RAG1):c.2182T>C (p.Tyr728His)	RAG1 (Y728H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 624604	NM_000448.3(RAG1):c.2119G>C (p.Gly707Arg)	RAG1 (G707R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 624602	NM_000448.3(RAG1):c.1815G>C (p.Met605Ile)	RAG1 (M605I)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 624601	NM_000448.3(RAG1):c.1213A>G (p.Arg405Gly)	RAG1 (R405G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 624600	NM_000448.3(RAG1):c.987del (p.Ser330fs)	RAG1 (S330fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 68694	NM_000448.3(RAG1):c.730A>G (p.Arg244Gly)	RAG1 (R244G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68692	NM_000448.3(RAG1):c.2654T>G (p.Leu885Arg)	RAG1 (L885R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68691	NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile)	RAG1 (N855I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68677	NM_000448.3(RAG1):c.1201T>C (p.Ser401Pro)	RAG1 (S401P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68676	NM_000448.3(RAG1):c.1187G>T (p.Arg396Leu)	RAG1 (R396L)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 32