Related gene-specific medical variations for Gene (Select 100) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 167

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248282	NC_000020.10:g.(?_43248920)_(43264949_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248281	NC_000020.10:g.(?_43264848)_(43265101_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248280	NC_000020.10:g.(?_43280112)_(43280248_?)del	ADA	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3241070	NM_000022.4(ADA):c.355dup (p.Gln119fs)	ADA (Q119fs +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	GLikely pathogenic
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 3241059	NM_000022.4(ADA):c.815G>A (p.Trp272Ter)	ADA (W137* +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	GPathogenic
Select item 3241027	NM_000022.4(ADA):c.678+2T>C	ADA	Single nucleotide variant (splice donor 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 3239667	NM_000022.4(ADA):c.993dup (p.Ser332fs)	ADA (S197fs +2 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	GLikely pathogenic
Select item 3065154	NM_000022.4(ADA):c.674A>T (p.Lys225Ile)	ADA (K225I +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	GUncertain significance
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 3022892	NM_000022.4(ADA):c.34-12G>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 3010270	NM_000022.4(ADA):c.34-20T>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 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 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 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 2962211	NM_000022.4(ADA):c.34-29CT[3]	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 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 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 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 2910433	NM_000022.4(ADA):c.33+12C>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 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 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 2904407	NM_000022.4(ADA):c.33+10C>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 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 2885947	NM_000022.4(ADA):c.34-10C>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 2871296	NM_000022.4(ADA):c.33+13G>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 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 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 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 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 2754225	NM_000022.4(ADA):c.12G>T (p.Thr4=)	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 2748818	NM_000022.4(ADA):c.15C>A (p.Pro5=)	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 2738185	NM_000022.4(ADA):c.33+17G>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 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 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 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 2709658	NM_000022.4(ADA):c.2T>G (p.Met1Arg)	ADA, LOC107303343 (M1R)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2680744	NM_000022.4(ADA):c.293del (p.Val98fs)	ADA (V98fs +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 2680743	NM_000022.4(ADA):c.781-1G>T	ADA	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 2680728	NM_000022.4(ADA):c.478+1G>C	ADA	Single nucleotide variant (intron 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 2680718	NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)	ADA (T168fs +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 2680712	NM_000022.4(ADA):c.407del (p.Gly136fs)	ADA (G136fs)	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 2680709	NM_000022.4(ADA):c.674_675del (p.Lys225fs)	ADA (K225fs +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 2680706	NM_000022.4(ADA):c.482G>A (p.Trp161Ter)	ADA (W161* +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
Select item 2680705	NM_000022.4(ADA):c.1078+1G>A	ADA	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 2680697	NM_000022.4(ADA):c.679-2A>G	ADA	Single nucleotide variant (splice acceptor 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 2680691	NM_000022.4(ADA):c.363-2A>T	ADA	Single nucleotide variant (intron 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 2680688	NM_000022.4(ADA):c.363-1G>T	ADA	Single nucleotide variant (intron 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 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 2438856	NM_000022.4(ADA):c.355C>A (p.Gln119Lys)	ADA (Q119K)	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 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 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 2156171	NM_000022.4(ADA):c.15C>T (p.Pro5=)	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 2154271	NM_000022.4(ADA):c.34-16C>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 2151634	NM_000022.4(ADA):c.16G>T (p.Ala6Ser)	ADA, LOC107303343 (A6S)	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 2143578	NM_000022.4(ADA):c.33+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 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 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 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 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 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 2091025	NM_000022.4(ADA):c.33+8C>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 2046831	NM_000022.4(ADA):c.19T>C (p.Phe7Leu)	ADA, LOC107303343 (F7L)	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 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 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 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 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 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 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 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 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 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 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 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 1706683	NM_000022.4(ADA):c.96-193T>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697258	NM_000022.4(ADA):c.1079-14_1079-4del	ADA	Deletion (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 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 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 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 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 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 1557559	NM_000022.4(ADA):c.34-18C>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 1549550	NM_000022.4(ADA):c.33+17dup	ADA, LOC107303343	Duplication (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign
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 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 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 1459657	NM_000022.4(ADA):c.33+2_33+104del	ADA, LOC107303343	Deletion (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
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 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 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 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 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 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 1281483	NM_000022.4(ADA):c.34-255A>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270893	NM_000022.4(ADA):c.96-270AC[10]	ADA, LOC107303343	Microsatellite (intron variant)	not provided	GBenign

<< First< Prev

Page of 2