ClinVar for MedGen (Select 349065) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Autoimmune lymphoproliferative syndrome type 2A +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
Select item 2933306	NM_032977.4(CASP10):c.701A>T (p.Asn234Ile)	CASP10 (N234I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2933193	NM_032977.4(CASP10):c.607A>G (p.Lys203Glu)	CASP10 (K203E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2933140	NM_032977.4(CASP10):c.924G>A (p.Glu308=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2932965	NM_032977.4(CASP10):c.1438C>T (p.Leu480Phe)	CASP10 (L437F +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2932656	NM_032977.4(CASP10):c.487G>T (p.Asp163Tyr)	CASP10 (D163Y)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2931959	NM_032977.4(CASP10):c.1405T>C (p.Leu469=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2931952	NM_032977.4(CASP10):c.1254C>T (p.Asn418=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2931869	NM_032977.4(CASP10):c.901C>G (p.Gln301Glu)	CASP10 (T270R +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2930644	NM_032977.4(CASP10):c.740G>T (p.Gly247Val)	CASP10 (G247V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2930373	NM_032977.4(CASP10):c.684+20G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2930300	NM_032977.4(CASP10):c.387G>T (p.Glu129Asp)	CASP10 (E129D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2930189	NM_032977.4(CASP10):c.690G>A (p.Glu230=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2929774	NM_032977.4(CASP10):c.1089T>C (p.Ala363=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2929537	NM_032977.4(CASP10):c.682C>T (p.Pro228Ser)	CASP10 (P228S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2929053	NM_032977.4(CASP10):c.1223C>T (p.Pro408Leu)	CASP10 (P341L +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2928607	NM_032977.4(CASP10):c.722-11T>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2928567	NM_032977.4(CASP10):c.714T>A (p.Gly238=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2928083	NM_032977.4(CASP10):c.932G>A (p.Ser311Asn)	CASP10 (S268N +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2927776	NM_032977.4(CASP10):c.1557A>G (p.Ala519=)	CASP10	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2927573	NM_032977.4(CASP10):c.506G>T (p.Cys169Phe)	CASP10 (C169F)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2927483	NM_032977.4(CASP10):c.461C>A (p.Ala154Glu)	CASP10 (A154E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2927268	NM_032977.4(CASP10):c.1236C>T (p.Ile412=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2926874	NM_032977.4(CASP10):c.248T>C (p.Leu83Pro)	CASP10 (L83P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2926700	NM_032977.4(CASP10):c.247C>T (p.Leu83Phe)	CASP10 (L83F)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2926629	NM_032977.4(CASP10):c.1530del (p.Lys510fs)	CASP10 (K443fs +2 more)	Deletion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2925828	NM_032977.4(CASP10):c.471G>T (p.Glu157Asp)	CASP10 (E157D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2925019	NM_032977.4(CASP10):c.721+3A>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2924982	NM_032977.4(CASP10):c.923-12G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2923809	NM_032977.4(CASP10):c.134G>A (p.Gly45Glu)	CASP10 (G45E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2923490	NM_032977.4(CASP10):c.347+6G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2922577	NM_032977.4(CASP10):c.989T>C (p.Val330Ala)	CASP10 (V287A +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2921866	NM_032977.4(CASP10):c.45C>T (p.Asn15=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2921782	NM_032977.4(CASP10):c.103G>A (p.Asp35Asn)	CASP10 (D35N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2921484	NM_032977.4(CASP10):c.1359G>A (p.Glu453=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2921440	NM_032977.4(CASP10):c.620C>G (p.Ser207Trp)	CASP10 (S207W)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2439761	NM_032977.4(CASP10):c.1280A>G (p.Gln427Arg)	CASP10 (Q360R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2439760	NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala)	CASP10 (P449A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2427087	NC_000002.11:g.(?_202052409)_(202052542_?)del	CASP10	Deletion	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2427086	NC_000002.11:g.(?_202050501)_(202052542_?)dup	CASP10	Duplication	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2427085	NC_000002.11:g.(?_202060545)_(202060691_?)del	CASP10	Deletion	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2421683	NM_032977.4(CASP10):c.684+9A>G	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2420373	NM_032977.4(CASP10):c.615C>T (p.Ala205=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2418856	NM_032977.4(CASP10):c.387_388del (p.Asn130fs)	CASP10 (N130fs)	Microsatellite (frameshift variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2416260	NM_032977.4(CASP10):c.590T>C (p.Val197Ala)	CASP10 (V197A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2414991	NM_032977.4(CASP10):c.1415+18del	CASP10	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GBenign
Select item 2194716	NM_032977.4(CASP10):c.1094A>C (p.Tyr365Ser)	CASP10 (Y365S +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2187543	NM_032977.4(CASP10):c.765del (p.Met256fs)	CASP10 (M256fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2186100	NM_032977.4(CASP10):c.593C>A (p.Thr198Lys)	CASP10 (T198K)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2177908	NM_032977.4(CASP10):c.1139A>G (p.His380Arg)	CASP10 (H313R +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2174606	NM_032977.4(CASP10):c.1039G>A (p.Asp347Asn)	CASP10 (D280N +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2162939	NM_032977.4(CASP10):c.326G>C (p.Arg109Pro)	CASP10 (R109P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2158569	NM_032977.4(CASP10):c.551del (p.Asn184fs)	CASP10 (N184fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2152460	NM_032977.4(CASP10):c.1161T>C (p.Pro387=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2135216	NM_032977.4(CASP10):c.309G>A (p.Glu103=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2130917	NM_032977.4(CASP10):c.249C>T (p.Leu83=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign

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