ClinVar for MedGen (Select 349065) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3895504	NM_032977.4(CASP10):c.1072_1074delinsTAG (p.His358Ter)	CASP10 (H291* +2 more)	Indel (nonsense +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3893030	NM_032977.4(CASP10):c.791_792del (p.Leu264fs)	CASP10 (L264fs)	Deletion (frameshift variant +1 more)	Lymphoma, non-Hodgkin, familial +2 more	GUncertain significance
Select item 3893029	NM_032977.4(CASP10):c.1415+5G>A	CASP10	Single nucleotide variant (intron variant)	Lymphoma, non-Hodgkin, familial +2 more	GUncertain significance
Select item 3763969	NM_032977.4(CASP10):c.810A>C (p.Thr270=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3763750	NM_032977.4(CASP10):c.578-1G>T	CASP10	Single nucleotide variant (splice acceptor variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3763659	NM_032977.4(CASP10):c.577+8G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3763430	NM_032977.4(CASP10):c.680T>C (p.Leu227Ser)	CASP10 (L227S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3762978	NM_032977.4(CASP10):c.1415+5G>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3762403	NM_032977.4(CASP10):c.1185C>A (p.Leu395=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3762352	NM_032977.4(CASP10):c.1165C>T (p.Leu389=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3761163	NM_032977.4(CASP10):c.1237G>A (p.Glu413Lys)	CASP10 (E346K +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3760309	NM_032977.4(CASP10):c.442-18C>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3760251	NM_032977.4(CASP10):c.1556C>A (p.Ala519Glu)	CASP10 (A452E +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3758800	NM_032977.4(CASP10):c.1509T>G (p.Pro503=)	CASP10	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3758435	NM_032977.4(CASP10):c.308A>G (p.Glu103Gly)	CASP10 (E103G)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3758430	NM_032977.4(CASP10):c.604G>A (p.Asp202Asn)	CASP10 (D202N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3758267	NM_032977.4(CASP10):c.1090G>A (p.Val364Ile)	CASP10 (V297I +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3758120	NM_032977.4(CASP10):c.1192A>G (p.Ile398Val)	CASP10 (I331V +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3757861	NM_032977.4(CASP10):c.814-14A>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3757477	NM_032977.4(CASP10):c.933T>A (p.Ser311Arg)	CASP10 (S244R +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3757138	NM_032977.4(CASP10):c.936T>C (p.His312=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3757101	NM_032977.4(CASP10):c.1564_1565delinsAC (p.Leu522Thr)	CASP10 (L455T +2 more)	Indel (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3757016	NM_032977.4(CASP10):c.158A>G (p.Glu53Gly)	CASP10 (E53G)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3756845	NM_032977.4(CASP10):c.905G>A (p.Gly302Glu)	CASP10 (G259E +1 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3756631	NM_032977.4(CASP10):c.441+3G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3756285	NM_032977.4(CASP10):c.57C>A (p.Ser19Arg)	CASP10 (S19R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3756222	NM_032977.4(CASP10):c.790C>G (p.Leu264Val)	CASP10 (L264V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3756037	NM_032977.4(CASP10):c.1425C>T (p.Asp475=)	CASP10	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3755869	NM_032977.4(CASP10):c.1017G>A (p.Gln339=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3755125	NM_032977.4(CASP10):c.897C>T (p.Asp299=)	CASP10 (Q269*)	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3755048	NM_032977.4(CASP10):c.813+6G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3755043	NM_032977.4(CASP10):c.1278G>T (p.Leu426=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3754904	NM_032977.4(CASP10):c.380A>G (p.Asp127Gly)	CASP10 (D127G)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3753496	NM_032977.4(CASP10):c.1379A>G (p.Gln460Arg)	CASP10 (Q393R +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3753495	NM_032977.4(CASP10):c.155del (p.Leu52fs)	CASP10 (L52fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3753487	NM_032977.4(CASP10):c.347+6G>T	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3752717	NM_032977.4(CASP10):c.868A>T (p.Asn290Tyr)	CASP10 (N247Y +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3752223	NM_032977.4(CASP10):c.880T>G (p.Phe294Val)	CASP10 (F251V +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3752130	NM_032977.4(CASP10):c.717T>C (p.Ser239=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3751858	NM_032977.4(CASP10):c.133G>A (p.Gly45Arg)	CASP10 (G45R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3751596	NM_032977.4(CASP10):c.585G>T (p.Gln195His)	CASP10 (Q195H)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3751527	NM_032977.4(CASP10):c.1522A>G (p.Arg508Gly)	CASP10 (R441G +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3751497	NM_032977.4(CASP10):c.221A>G (p.Glu74Gly)	CASP10 (E74G)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3751286	NM_032977.4(CASP10):c.595CCT[1] (p.Pro200del)	CASP10 (P200del)	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3751100	NM_032977.4(CASP10):c.1526A>G (p.Lys509Arg)	CASP10 (K442R +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3750333	NM_032977.4(CASP10):c.808A>G (p.Thr270Ala)	CASP10 (T270A)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3750310	NM_032977.4(CASP10):c.1547C>T (p.Pro516Leu)	CASP10 (P449L +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3749578	NM_032977.4(CASP10):c.494A>G (p.Asp165Gly)	CASP10 (D165G)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3749174	NM_032977.4(CASP10):c.1197G>A (p.Gln399=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3749114	NM_032977.4(CASP10):c.532G>T (p.Val178Leu)	CASP10 (V178L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3748632	NM_032977.4(CASP10):c.814-11T>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3748497	NM_032977.4(CASP10):c.1226C>G (p.Ser409Cys)	CASP10 (S342C +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3747973	NM_032977.4(CASP10):c.954G>A (p.Gly318=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 3572791	NM_032977.4(CASP10):c.437A>C (p.Glu146Ala)	CASP10 (E146A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3247314	NC_000002.11:g.(?_202050501)_(202082464_?)dup	CASP10	Duplication	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3247313	NC_000002.11:g.(?_202070585)_(202070716_?)del	CASP10	Deletion	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3137567	NM_032977.4(CASP10):c.1207G>A (p.Gly403Ser)	CASP10 (G360S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2954238	NM_032977.4(CASP10):c.578-18C>T	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2953426	NM_032977.4(CASP10):c.577+5G>T	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2952475	NM_032977.4(CASP10):c.1409T>C (p.Val470Ala)	CASP10 (V427A +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2951975	NM_032977.4(CASP10):c.629G>C (p.Gly210Ala)	CASP10 (G210A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2951142	NM_032977.4(CASP10):c.225C>T (p.Asp75=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2950909	NM_032977.4(CASP10):c.748del (p.Ser250fs)	CASP10 (S250fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2948944	NM_032977.4(CASP10):c.1402A>G (p.Lys468Glu)	CASP10 (K401E +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2948386	NM_032977.4(CASP10):c.684+4G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2948343	NM_032977.4(CASP10):c.441G>A (p.Met147Ile)	CASP10 (M147I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2946849	NM_032977.4(CASP10):c.1342T>A (p.Ser448Thr)	CASP10 (S448T +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2946642	NM_032977.4(CASP10):c.86C>A (p.Ser29Ter)	CASP10 (S29*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2946313	NM_032977.4(CASP10):c.922+18A>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2944963	NM_032977.4(CASP10):c.270G>A (p.Lys90=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2944375	NM_032977.4(CASP10):c.647C>G (p.Ser216Cys)	CASP10 (S216C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2944209	NM_032977.4(CASP10):c.1462A>G (p.Ser488Gly)	CASP10 (S445G +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2943292	NM_032977.4(CASP10):c.441+8G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2943093	NM_032977.4(CASP10):c.442-18C>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2942824	NM_032977.4(CASP10):c.895G>C (p.Asp299His)	CASP10 (D256H +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2942438	NM_032977.4(CASP10):c.47G>A (p.Cys16Tyr)	CASP10 (C16Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2942241	NM_032977.4(CASP10):c.576A>G (p.Lys192=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2942108	NM_032977.4(CASP10):c.448C>A (p.Leu150Ile)	CASP10 (L150I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2942005	NM_032977.4(CASP10):c.625C>A (p.Gln209Lys)	CASP10 (Q209K)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2941786	NM_032977.4(CASP10):c.578-10T>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2941340	NM_032977.4(CASP10):c.57C>G (p.Ser19Arg)	CASP10 (S19R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2940867	NM_032977.4(CASP10):c.685-15T>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2940782	NM_032977.4(CASP10):c.474A>G (p.Lys158=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2940686	NM_032977.4(CASP10):c.1455T>C (p.Asp485=)	CASP10	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2940620	NM_032977.4(CASP10):c.522C>G (p.Cys174Trp)	CASP10 (C174W)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2940567	NM_032977.4(CASP10):c.13G>A (p.Gly5Ser)	CASP10 (G5S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2939990	NM_032977.4(CASP10):c.610G>C (p.Glu204Gln)	CASP10 (E204Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2939872	NM_032977.4(CASP10):c.1501C>A (p.Pro501Thr)	CASP10 (P434T +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2939561	NM_032977.4(CASP10):c.278A>C (p.Gln93Pro)	CASP10 (Q93P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2939442	NM_032977.4(CASP10):c.387G>C (p.Glu129Asp)	CASP10 (E129D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2938736	NM_032977.4(CASP10):c.1416-4G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2938672	NM_032977.4(CASP10):c.814-19G>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2938607	NM_032977.4(CASP10):c.448C>G (p.Leu150Val)	CASP10 (L150V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2938352	NM_032977.4(CASP10):c.760A>C (p.Arg254=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2938068	NM_032977.4(CASP10):c.1422A>G (p.Glu474=)	CASP10	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2936078	NM_032977.4(CASP10):c.153G>A (p.Lys51=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2935500	NM_032977.4(CASP10):c.1022G>A (p.Cys341Tyr)	CASP10 (C274Y +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2935060	NM_032977.4(CASP10):c.1226C>T (p.Ser409Phe)	CASP10 (S342F +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2933753	NM_032977.4(CASP10):c.76A>G (p.Ile26Val)	CASP10 (I26V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2933385	NM_032977.4(CASP10):c.348-13G>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign

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