ClinVar (all) for Orgtrack (Select 509310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367213	NM_001369369.1(FOXN1):c.1579_1580del (p.Gly526_Thr527insTer)	FOXN1	Deletion (nonsense)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 3367212	NM_001369369.1(FOXN1):c.1275_1278del (p.Leu426fs)	FOXN1 (L426fs)	Microsatellite (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 3367211	NM_001369369.1(FOXN1):c.1296del (p.Ile433fs)	FOXN1 (I433fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 3367210	NM_001369369.1(FOXN1):c.1168del (p.Glu390fs)	FOXN1 (E390fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 3367209	NM_001369369.1(FOXN1):c.880G>A (p.Val294Ile)	FOXN1 (V294I)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenicFDA Recognized database
Select item 3066454	NM_000206.3(IL2RG):c.455-2A>T	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenicFDA Recognized database
Select item 2780381	NM_001369369.1(FOXN1):c.246C>A (p.Cys82Ter)	FOXN1 (C82*)	Single nucleotide variant (nonsense)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenicFDA Recognized database
Select item 2726823	NM_001369369.1(FOXN1):c.1135+5G>C	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GUncertain significanceFDA Recognized database
Select item 2440718	NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys)	DCLRE1C (E104K)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2301303	NM_000536.4(RAG2):c.48G>T (p.Gln16His)	RAG2 (Q16H)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significanceFDA Recognized database
Select item 2288152	NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile)	DCLRE1C (T46I)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2269371	NM_000448.3(RAG1):c.76T>C (p.Ser26Pro)	RAG1 (S26P)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 2199784	NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)	ADA (D290Y +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 significanceFDA Recognized database
Select item 2199693	NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)	DCLRE1C (E88K)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2187538	NM_002185.5(IL7R):c.82+14A>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GUncertain significanceFDA Recognized database
Select item 2163795	NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)	DCLRE1C (A44D)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2163677	NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)	RAG2 (N101S)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significanceFDA Recognized database
Select item 2150998	NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)	DCLRE1C (K36E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2147602	NM_000022.4(ADA):c.569G>A (p.Gly190Glu)	ADA (G55E +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 significanceFDA Recognized database
Select item 2146646	NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)	DCLRE1C (R81Q)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2138599	NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)	IL2RG (Q322*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenicFDA Recognized database
Select item 2138345	NM_000022.4(ADA):c.976-1G>C	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	GPathogenicFDA Recognized database
Select item 2136853	NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)	DCLRE1C (A28P)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenicFDA Recognized database
Select item 2136852	NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)	DCLRE1C (S32C)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenicFDA Recognized database
Select item 2136850	NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)	DCLRE1C (S119*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenicFDA Recognized database
Select item 2118854	NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)	DCLRE1C (L47*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenicFDA Recognized database
Select item 2108802	NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter)	FOXN1 (L456*)	Single nucleotide variant (nonsense)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 2107279	NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)	DCLRE1C (F19L)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2098676	NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)	RAG1 (P6L)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 2088121	NM_001369369.1(FOXN1):c.340C>T (p.Arg114Ter)	FOXN1 (R114*)	Single nucleotide variant (nonsense)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenicFDA Recognized database
Select item 2088001	NM_000022.4(ADA):c.1078+2T>C	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	GUncertain significanceFDA Recognized database
Select item 2079766	NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)	RAG1 (K29R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 2062424	NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)	DCLRE1C (P12S)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 2054022	NM_000215.4(JAK3):c.2680+89G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenicFDA Recognized database
Select item 2050660	NM_000022.4(ADA):c.596A>G (p.Gln199Arg)	ADA (Q199R +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 significanceFDA Recognized database
Select item 2048620	NM_000215.4(JAK3):c.1915-1G>A	JAK3	Single nucleotide variant (splice acceptor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA Recognized database
Select item 2019436	NM_000536.4(RAG2):c.3G>A (p.Met1Ile)	RAG2 (M1I)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 2 deficiency	GLikely pathogenicFDA Recognized database
Select item 2009484	NM_000022.4(ADA):c.902A>T (p.Lys301Met)	ADA (K166M +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 significanceFDA Recognized database
Select item 1999662	NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)	JAK3 (K59*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenicFDA Recognized database
Select item 1966519	NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu)	FOXN1 (P350L)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 1965651	NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)	DCLRE1C (D170G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1936229	NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)	DCLRE1C (M8I)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1901446	NM_000022.4(ADA):c.606+1G>T	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 pathogenicFDA Recognized database
Select item 1901178	NM_000536.4(RAG2):c.95G>T (p.Gly32Val)	RAG2 (G32V)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significanceFDA Recognized database
Select item 1722324	NM_001033855.3(DCLRE1C):c.161+2T>G	DCLRE1C	Single nucleotide variant (intron variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenicFDA Recognized database
Select item 1713265	NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	DCLRE1C (C116R)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenicFDA Recognized database
Select item 1708141	NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)	DCLRE1C (R263* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenicFDA Recognized database
Select item 1696220	NM_000022.4(ADA):c.539T>C (p.Ile180Thr)	ADA (I180T +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 significanceFDA Recognized database
Select item 1696158	NM_001033855.3(DCLRE1C):c.247-1G>C	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1683587	NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)	IL7R (L14S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significanceFDA Recognized database
Select item 1679474	NM_001033855.3(DCLRE1C):c.973-1801T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1678200	NM_000022.4(ADA):c.984T>A (p.Asn328Lys)	ADA (N193K +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 significanceFDA Recognized database
Select item 1677132	NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)	IL2RG (E59*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenicFDA Recognized database
Select item 1626393	NM_000022.4(ADA):c.930G>A (p.Met310Ile)	ADA (M175I +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 significanceFDA Recognized database
Select item 1610976	NM_001369369.1(FOXN1):c.124-17A>T	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GUncertain significanceFDA Recognized database
Select item 1559662	NM_000206.3(IL2RG):c.924+9G>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GUncertain significanceFDA Recognized database
Select item 1517590	NM_001369369.1(FOXN1):c.928-2A>G	FOXN1	Single nucleotide variant (splice acceptor variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GUncertain significanceFDA Recognized database
Select item 1515797	NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val)	DCLRE1C (A208V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1515264	NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val)	DCLRE1C (I83V)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1515226	NM_000448.3(RAG1):c.29G>T (p.Gly10Val)	RAG1 (G10V)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 1514295	NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly)	DCLRE1C (R146G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1512780	NM_000536.4(RAG2):c.13A>T (p.Met5Leu)	RAG2 (M5L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significanceFDA Recognized database
Select item 1511542	NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe)	DCLRE1C (I159F +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1507904	NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg)	IL2RG (G247R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significanceFDA Recognized database
Select item 1507601	NM_000022.4(ADA):c.935A>G (p.Lys312Arg)	ADA (K177R +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 significanceFDA Recognized database
Select item 1505857	NM_000022.4(ADA):c.890C>T (p.Pro297Leu)	ADA (P273L +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	GLikely pathogenicFDA Recognized database
Select item 1473380	NM_000022.4(ADA):c.363-2A>G	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 pathogenicFDA Recognized database
Select item 1459771	NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)	JAK3 (R771*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenicFDA Recognized database
Select item 1456275	NM_001369369.1(FOXN1):c.1010del (p.Gly337fs)	FOXN1 (G337fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 1438811	NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	DCLRE1C (S32F)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenicFDA Recognized database
Select item 1438768	NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His)	DCLRE1C (Q92H)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1434035	NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr)	DCLRE1C (I82T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1412375	NM_000536.4(RAG2):c.130G>T (p.Gly44Ter)	RAG2 (G44*)	Single nucleotide variant (nonsense)	Recombinase activating gene 2 deficiency	GPathogenicFDA Recognized database
Select item 1411137	NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)	IL2RG (W246*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenicFDA Recognized database
Select item 1406981	NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	ADA (Y201* +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 pathogenicFDA Recognized database
Select item 1393864	NM_002185.5(IL7R):c.135G>C (p.Gln45His)	IL7R (Q45H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significanceFDA Recognized database
Select item 1371376	NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)	IL2RG (E110*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenicFDA Recognized database
Select item 1369885	NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)	IL2RG (C72*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GLikely pathogenicFDA Recognized database
Select item 1368945	NM_000206.3(IL2RG):c.115+2T>C	IL2RG, LOC126863274	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenicFDA Recognized database
Select item 1364174	NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	DCLRE1C (Y60*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenicFDA Recognized database
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 significanceFDA Recognized database
Select item 1349574	NM_000536.4(RAG2):c.25A>G (p.Ser9Gly)	RAG2 (S9G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significanceFDA Recognized database
Select item 1348464	NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)	RAG1 (A14T)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significanceFDA Recognized database
Select item 1339483	NM_002185.5(IL7R):c.379G>A (p.Val127Ile)	IL7R (V127I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GPathogenicFDA Recognized database
Select item 1335461	NM_000022.4(ADA):c.763G>T (p.Glu255Ter)	ADA (E120* +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 pathogenicFDA Recognized database
Select item 1323115	NM_002185.5(IL7R):c.235G>T (p.Glu79Ter)	IL7R (E79*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GLikely pathogenicFDA Recognized database
Select item 1323112	NM_000206.3(IL2RG):c.115+1G>T	IL2RG, LOC126863274	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenicFDA Recognized database
Select item 1322192	NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)	DCLRE1C (R191* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenicFDA Recognized database
Select item 1298987	NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)	IL7R (R206*)	Single nucleotide variant (nonsense)	Immunodeficiency 104	GPathogenicFDA Recognized database
Select item 1199408	NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs)	FOXN1 (Y455fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenicFDA Recognized database
Select item 1199335	NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu)	DCLRE1C (G6E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1199323	NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)	IL2RG (H354R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benignFDA Recognized database
Select item 1195941	NM_000022.4(ADA):c.937C>T (p.Arg313Trp)	ADA (R178W +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 significanceFDA Recognized database
Select item 1172577	NM_000206.3(IL2RG):c.655T>C (p.Tyr219His)	IL2RG (Y219H)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significanceFDA Recognized database
Select item 1170282	NM_001369369.1(FOXN1):c.1664C>T (p.Ala555Val)	FOXN1 (A555V)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely benignFDA Recognized database
Select item 1166432	NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn)	IL2RG (S326N)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benignFDA Recognized database
Select item 1144398	NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=)	DCLRE1C (M1T)	Single nucleotide variant (synonymous variant +4 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significanceFDA Recognized database
Select item 1127854	NM_001369369.1(FOXN1):c.1135+20G>A	FOXN1	Single nucleotide variant (intron variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely benignFDA Recognized database
Select item 1089071	NM_001369369.1(FOXN1):c.114C>T (p.Ala38=)	FOXN1	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely benignFDA Recognized database
Select item 1075544	NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	RAG2 (Y277fs)	Duplication (frameshift variant)	Recombinase activating gene 2 deficiency	GPathogenicFDA Recognized database

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