LOC107303343[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2919280	NM_000022.4(ADA):c.218+20C>T	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	GLikely benign
Select item 2791163	NM_000022.4(ADA):c.218+17C>T	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	GLikely benign
Select item 1614552	NM_000022.4(ADA):c.218+17C>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	GLikely benign
Select item 2984289	NM_000022.4(ADA):c.218+15A>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	GLikely benign
Select item 1949802	NM_000022.4(ADA):c.218+14A>C	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	GLikely benign
Select item 2911840	NM_000022.4(ADA):c.218+11C>T	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	GLikely benign
Select item 1147350	NM_000022.4(ADA):c.218+10C>T	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	GLikely benign
Select item 1106106	NM_000022.4(ADA):c.218+10C>A	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	GLikely benign
Select item 557545	NM_000022.4(ADA):c.218+2dup	LOC107303343, ADA	Duplication (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 550379	NM_000022.4(ADA):c.218+2T>G	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 2680696	NM_000022.4(ADA):c.218+1G>T	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 555722	NM_000022.4(ADA):c.218+1G>A	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 2171009	NM_000022.4(ADA):c.218C>T (p.Ala73Val)	ADA, LOC107303343 (A73V)	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
Select item 636473	NM_000022.4(ADA):c.217G>A (p.Ala73Thr)	ADA, LOC107303343 (A73T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1154269	NM_000022.4(ADA):c.216C>T (p.Ile72=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2985959	NM_000022.4(ADA):c.214A>G (p.Ile72Val)	ADA, LOC107303343 (I72V)	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
Select item 2919677	NM_000022.4(ADA):c.210T>C (p.Pro70=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1155189	NM_000022.4(ADA):c.201C>T (p.Tyr67=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1075328	NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	ADA, LOC107303343 (Y67*)	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 FDA Recognized database
Select item 719476	NM_000022.4(ADA):c.192G>A (p.Lys64=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign FDA Recognized database
Select item 2111175	NM_000022.4(ADA):c.190A>G (p.Lys64Glu)	ADA, LOC107303343 (K64E)	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
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 1532194	NM_000022.4(ADA):c.186G>A (p.Leu62=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2789396	NM_000022.4(ADA):c.184C>T (p.Leu62=)	LOC107303343, ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
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 1128067	NM_000022.4(ADA):c.177A>T (p.Pro59=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2731350	NM_000022.4(ADA):c.168C>T (p.Leu56=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1144871	NM_000022.4(ADA):c.165G>A (p.Pro55=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1110634	NM_000022.4(ADA):c.165G>T (p.Pro55=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 338510	NM_000022.4(ADA):c.162G>A (p.Lys54=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GBenign/Likely benign
Select item 1931491	NM_000022.4(ADA):c.159C>T (p.Asp53=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1018710	NM_000022.4(ADA):c.154A>T (p.Met52Leu)	ADA, LOC107303343 (M52L)	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
Select item 2736441	NM_000022.4(ADA):c.153C>T (p.Gly51=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2140652	NM_000022.4(ADA):c.150T>C (p.Ile50=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1380484	NM_000022.4(ADA):c.149T>C (p.Ile50Thr)	LOC107303343, ADA (I50T)	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
Select item 898652	NM_000022.4(ADA):c.145G>A (p.Val49Ile)	ADA, LOC107303343 (V49I)	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
Select item 747606	NM_000022.4(ADA):c.144C>T (p.Asn48=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
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 1958552	NM_000022.4(ADA):c.141G>A (p.Leu47=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1934158	NM_000022.4(ADA):c.138G>A (p.Leu46=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1929996	NM_000022.4(ADA):c.135G>C (p.Gly45=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1529020	NM_000022.4(ADA):c.135G>A (p.Gly45=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2034092	NM_000022.4(ADA):c.132G>A (p.Glu44=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2031159	NM_000022.4(ADA):c.126A>G (p.Thr42=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1337777	NM_000022.4(ADA):c.125C>G (p.Thr42Arg)	ADA, LOC107303343 (T42R)	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 1578576	NM_000022.4(ADA):c.117A>G (p.Pro39=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 898653	NM_000022.4(ADA):c.115C>G (p.Pro39Ala)	ADA, LOC107303343 (P39A)	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
Select item 1157811	NM_000022.4(ADA):c.111C>T (p.Ala37=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely 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 1973831	NM_000022.4(ADA):c.109G>A (p.Ala37Thr)	ADA, LOC107303343 (A37T)	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
Select item 797887	NM_000022.4(ADA):c.108C>T (p.Ile36=)	LOC107303343, ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1986473	NM_000022.4(ADA):c.103G>C (p.Gly35Arg)	ADA, LOC107303343 (G35R)	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
Select item 1625722	NM_000022.4(ADA):c.99G>A (p.Arg33=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2198099	NM_000022.4(ADA):c.96G>A (p.Arg32=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 969827	NM_000022.4(ADA):c.96-3C>T	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	GUncertain significance
Select item 737230	NM_000022.4(ADA):c.96-4C>T	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	GLikely benign
Select item 2717465	NM_000022.4(ADA):c.96-6T>C	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	GLikely benign
Select item 1103765	NM_000022.4(ADA):c.96-7T>C	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	GLikely benign
Select item 2841450	NM_000022.4(ADA):c.96-10T>C	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	GLikely benign
Select item 1152660	NM_000022.4(ADA):c.96-10T>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	GLikely benign
Select item 1572676	NM_000022.4(ADA):c.96-12T>C	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	GLikely benign
Select item 2903517	NM_000022.4(ADA):c.96-17_96-14del	ADA, LOC107303343	Microsatellite (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2908247	NM_000022.4(ADA):c.96-20A>C	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	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 2973054	NM_000022.4(ADA):c.95+17G>A	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	GLikely benign
Select item 2863640	NM_000022.4(ADA):c.95+17G>C	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	GLikely benign
Select item 2909432	NM_000022.4(ADA):c.95+13A>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	GLikely benign
Select item 3022916	NM_000022.4(ADA):c.95+11A>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	GLikely benign
Select item 1604327	NM_000022.4(ADA):c.95+10T>C	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	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 3241064	NM_000022.4(ADA):c.95+1G>T	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 555196	NM_000022.4(ADA):c.95+1G>A	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease +1 more	GPathogenic
Select item 2134340	NM_000022.4(ADA):c.93C>A (p.Gly31=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 859280	NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)	ADA, LOC107303343 (Y30C)	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
Select item 1343675	NM_000022.4(ADA):c.88T>C (p.Tyr30His)	ADA, LOC107303343 (Y30H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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
Select item 2105223	NM_000022.4(ADA):c.76A>C (p.Thr26Pro)	ADA, LOC107303343 (T26P)	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
Select item 570007	NM_000022.4(ADA):c.61T>G (p.Ser21Ala)	ADA, LOC107303343 (S21A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 1085761	NM_000022.4(ADA):c.57C>T (p.Asp19=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 642970	NM_000022.4(ADA):c.57C>A (p.Asp19Glu)	ADA, LOC107303343 (D19E)	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
Select item 2571135	NM_000022.4(ADA):c.56A>T (p.Asp19Val)	ADA, LOC107303343 (D19V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1370617	NM_000022.4(ADA):c.34-11_55del	ADA, LOC107303343	Deletion (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2768279	NM_000022.4(ADA):c.49del (p.His17fs)	ADA, LOC107303343 (H17fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2127792	NM_000022.4(ADA):c.49C>T (p.His17Tyr)	ADA, LOC107303343 (H17Y)	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
Select item 1603342	NM_000022.4(ADA):c.48C>T (p.Val16=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1101044	NM_000022.4(ADA):c.45T>C (p.His15=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 635324	NM_000022.4(ADA):c.44A>T (p.His15Leu)	ADA, LOC107303343 (H15L)	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	GLikely 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 1523684	NM_000022.4(ADA):c.36_37delinsAA (p.Glu13Lys)	ADA, LOC107303343 (E13K)	Indel (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
Select item 402340	NM_000022.4(ADA):c.36G>A (p.Val12=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more	GBenign

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