"GeneDx"[submitter] AND "LOC107303343"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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