"GeneDx"[submitter] AND "ADA"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1173012	NM_000022.4(ADA):c.1078+99C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GBenign
Select item 1173013	NM_000022.4(ADA):c.1078+87A>G	ADA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1212273	NM_000022.4(ADA):c.996_997del (p.Ser333fs)	ADA (S198fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1959	NM_000022.4(ADA):c.986C>T (p.Ala329Val)	ADA (A329V +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 FDA Recognized database
Select item 1173014	NM_000022.4(ADA):c.975+68G>A	ADA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 193544	NM_000022.4(ADA):c.956_960del (p.Glu319fs)	ADA (E184fs +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 +1 more	GPathogenic
Select item 1357028	NM_000022.4(ADA):c.934A>C (p.Lys312Gln)	ADA (K177Q +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	GUncertain significance FDA Recognized database
Select item 1961	NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	ADA (P297Q +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 +2 more	GConflicting classifications of pathogenicity
Select item 1210986	NM_000022.4(ADA):c.846-319C>T	ADA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 338505	NM_000022.4(ADA):c.834T>C (p.His278=)	ADA	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GBenign
Select item 1173015	NM_000022.4(ADA):c.780+36G>A	ADA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 392264	NM_000022.4(ADA):c.780+7G>A	ADA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 618516	NM_000022.4(ADA):c.757C>T (p.Arg253Trp)	ADA (R253W +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	GUncertain significance FDA Recognized database
Select item 1968	NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	ADA (G216R +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 1173016	NM_000022.4(ADA):c.607-48C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GBenign
Select item 1207503	NM_000022.4(ADA):c.607-79A>G	ADA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234409	NM_000022.4(ADA):c.606+195T>C	ADA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707389	NM_000022.4(ADA):c.606+122G>C	ADA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382795	NM_000022.4(ADA):c.575G>A (p.Ser192Asn)	ADA (S192N +1 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	GUncertain significance FDA Recognized database
Select item 254716	NM_000022.4(ADA):c.534A>G (p.Val178=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GBenign
Select item 280626	NM_000022.4(ADA):c.532dup (p.Val178fs)	ADA (V178fs +1 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic
Select item 373095	NM_000022.4(ADA):c.508A>G (p.Lys170Glu)	ADA (K170E +1 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 +2 more	GUncertain significance
Select item 1286089	NM_000022.4(ADA):c.479-161G>A	ADA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265025	NM_000022.4(ADA):c.478+1G>A	ADA	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic
Select item 1970	NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	ADA (R156C)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1979	NM_000022.4(ADA):c.454C>A (p.Leu152Met)	ADA (L152M)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance FDA Recognized database
Select item 68262	NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	ADA (R142Q)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign FDA Recognized database
Select item 35653	NM_000022.4(ADA):c.390G>A (p.Val130=)	ADA	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 1074979	NM_000022.4(ADA):c.366_367del (p.Asp123fs)	ADA (D123fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 1261730	NM_000022.4(ADA):c.363-165=	ADA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 417999	NM_000022.4(ADA):c.362+5_362+8del	ADA	Microsatellite (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1965	NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	ADA (L107P +1 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 +2 more	GPathogenic/Likely pathogenic
Select item 1954	NM_000022.4(ADA):c.239A>G (p.Lys80Arg)	ADA (K80R)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign FDA Recognized database
Select item 1962	NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	ADA (R76W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1282057	NM_000022.4(ADA):c.218+282G>A	ADA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308808	NM_000022.4(ADA):c.179A>G (p.Asp60Gly)	ADA, LOC107303343 (D60G)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GUncertain significance
Select item 338510	NM_000022.4(ADA):c.162G>A (p.Lys54=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 513280	NM_000022.4(ADA):c.110C>T (p.Ala37Val)	ADA, LOC107303343 (A37V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 1291727	NM_000022.4(ADA):c.96-164G>A	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286894	NM_000022.4(ADA):c.96-165A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706683	NM_000022.4(ADA):c.96-193T>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268071	NM_000022.4(ADA):c.96-270AC[12]	ADA, LOC107303343	Microsatellite (intron variant)	not provided	GBenign
Select item 1270893	NM_000022.4(ADA):c.96-270AC[10]	ADA, LOC107303343	Microsatellite (intron variant)	not provided	GBenign
Select item 1263208	NM_000022.4(ADA):c.95+177G>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188894	NM_000022.4(ADA):c.95+165A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189583	NM_000022.4(ADA):c.95+84G>A	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 468282	NM_000022.4(ADA):c.95+9A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GBenign/Likely benign
Select item 68267	NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	LOC107303343, ADA (G20R)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 68263	NM_000022.4(ADA):c.43C>G (p.His15Asp)	ADA, LOC107303343 (H15D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1281483	NM_000022.4(ADA):c.34-255A>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241428	NM_000022.4(ADA):c.34-283C>T	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1973	NM_000022.2(ADA):c.22G>A (p.Asp8Asn)	ADA, LOC107303343 (D8N)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign FDA Recognized database
Select item 377441	NM_000022.4(ADA):c.7C>T (p.Gln3Ter)	ADA, LOC107303343 (Q3*)	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 +1 more	GPathogenic
Select item 338512	NM_000022.3(ADA):c.-101G>A	ADA, LOC107303343	Single nucleotide variant	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GBenign

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Items: 54