C1863236[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724820	NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)	ADA (G181fs +2 more)	Insertion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1958	NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	ADA (L304R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic/Likely pathogenic
Select item 1726681	NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)	ADA (N158fs +2 more)	Indel (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 983708	NM_000022.4(ADA):c.859C>T (p.Gln287Ter)	ADA (Q152* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1724548	NM_000022.4(ADA):c.829del (p.Glu277fs)	ADA (E142fs +2 more)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1725717	NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)	ADA (W137fs +2 more)	Insertion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 983780	NM_000022.4(ADA):c.791G>A (p.Trp264Ter)	ADA (W129* +2 more)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1322821	NM_000022.4(ADA):c.767del (p.Asn256fs)	ADA (N121fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1726516	NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)	ADA (R118fs +2 more)	Insertion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1725808	NM_000022.4(ADA):c.622_632del (p.Gly208fs)	ADA (G208fs +1 more)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 983781	NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	ADA (Y172* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic/Likely pathogenic
Select item 983782	NM_000022.4(ADA):c.511A>T (p.Lys171Ter)	ADA (K171* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 265025	NM_000022.4(ADA):c.478+1G>A	ADA	Single nucleotide variant (intron variant +1 more)	Severe combined immunodeficiency disease +2 more	GPathogenic
Select item 1725378	NM_000022.4(ADA):c.410del (p.Leu137fs)	ADA (L137fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1725250	NM_000022.4(ADA):c.322del (p.Ala108fs)	ADA (A108fs +1 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1725739	NM_000022.4(ADA):c.187del (p.Ala63fs)	ADA, LOC107303343 (A63fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1724377	NM_000022.4(ADA):c.141_142del (p.Asn48fs)	ADA, LOC107303343 (N48fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 1725087	NM_000022.4(ADA):c.83T>A (p.Leu28Ter)	ADA, LOC107303343 (L28*)	Single nucleotide variant (nonsense +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic