ClinVar for MedGen (Select 339548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247246	NC_000002.11:g.(?_202131210)_(202134348_?)del	CASP8	Deletion	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 3247245	NC_000002.11:g.(?_202131210)_(202151317_?)del	CASP8	Deletion	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 3015219	NM_001372051.1(CASP8):c.412-18del	CASP8	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 3013732	NM_001372051.1(CASP8):c.948C>G (p.Ser316=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 3010666	NM_001372051.1(CASP8):c.509G>A (p.Ser170Asn)	CASP8 (S229N +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2989453	NM_001372051.1(CASP8):c.33G>A (p.Gly11=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2989433	NM_001372051.1(CASP8):c.330A>G (p.Glu110=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2983129	NM_001372051.1(CASP8):c.1200_1201delinsTT (p.Leu400_Leu401=)	CASP8	Indel (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2972781	NM_001372051.1(CASP8):c.412-7C>G	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2965545	NM_001372051.1(CASP8):c.198C>T (p.Leu66=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2917467	NM_001372051.1(CASP8):c.901C>A (p.Leu301Ile)	CASP8 (L276I +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2911876	NM_001372051.1(CASP8):c.808T>C (p.Leu270=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2900100	NM_001372051.1(CASP8):c.927C>T (p.Cys309=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2896117	NM_001372051.1(CASP8):c.918del (p.Asn306fs)	CASP8 (N101fs +13 more)	Deletion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2889821	NM_001372051.1(CASP8):c.305+18T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2889478	NM_001372051.1(CASP8):c.1042C>G (p.Leu348Val)	CASP8 (L323V +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2885998	NM_001372051.1(CASP8):c.306-1978G>T	CASP8 (E112*)	Single nucleotide variant (intron variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2879079	NM_001372051.1(CASP8):c.306-2018G>A	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2875364	NM_001372051.1(CASP8):c.1041C>A (p.Ser347=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2855226	NM_001372051.1(CASP8):c.828G>A (p.Glu276=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2849813	NM_001372051.1(CASP8):c.491G>T (p.Cys164Phe)	CASP8 (C196F +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2827870	NM_001372051.1(CASP8):c.802+7T>C	CASP8	Single nucleotide variant (3 prime UTR variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2825555	NM_001372051.1(CASP8):c.1057A>G (p.Lys353Glu)	CASP8 (K139E +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2817066	NM_001372051.1(CASP8):c.1305-7A>G	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2815690	NM_001372051.1(CASP8):c.412-10C>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2810474	NM_001372051.1(CASP8):c.485G>T (p.Arg162Ile)	CASP8 (R162I +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2808349	NM_001372051.1(CASP8):c.306-1892T>A	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2797430	NM_001372051.1(CASP8):c.306-4A>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2792303	NM_001372051.1(CASP8):c.315C>T (p.Leu105=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2790366	NM_001372051.1(CASP8):c.306-1976del	CASP8 (A113fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2787831	NM_001372051.1(CASP8):c.802+7T>A	CASP8	Single nucleotide variant (3 prime UTR variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2783730	NM_001372051.1(CASP8):c.305+16del	CASP8	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2780013	NM_001372051.1(CASP8):c.1294C>T (p.Arg432Ter)	CASP8 (R227* +14 more)	Single nucleotide variant (nonsense +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2762094	NM_001372051.1(CASP8):c.492_493del (p.Ala165fs)	CASP8 (A197fs +3 more)	Microsatellite (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2740457	NM_001372051.1(CASP8):c.474C>T (p.Asp158=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2739985	NM_001372051.1(CASP8):c.1175A>G (p.Tyr392Cys)	CASP8 (Y187C +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2738598	NM_001372051.1(CASP8):c.483A>G (p.Lys161=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2714040	NM_001372051.1(CASP8):c.323T>C (p.Ile108Thr)	CASP8 (I140T +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2709698	NM_001372051.1(CASP8):c.978T>A (p.Thr326=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2439762	NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg)	CASP8 (P109R +6 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 2301833	NM_001372051.1(CASP8):c.706T>C (p.Cys236Arg)	CASP8 (C221R +11 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 2198922	NM_001372051.1(CASP8):c.112A>G (p.Ile38Val)	CASP8 (I97V +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2197862	NM_001372051.1(CASP8):c.615A>G (p.Val205=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2186059	NM_001372051.1(CASP8):c.983dup (p.Gln329fs)	CASP8 (Q130fs +13 more)	Duplication (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2177158	NM_001372051.1(CASP8):c.803-10C>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2173986	NM_001372051.1(CASP8):c.655T>G (p.Ser219Ala)	CASP8 (S219A +6 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2173369	NM_001372051.1(CASP8):c.912C>T (p.His304=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2168995	NM_001372051.1(CASP8):c.306-1990A>G	CASP8 (M108V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2157440	NM_001372051.1(CASP8):c.306-1992G>A	CASP8 (R107H)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2155033	NM_001372051.1(CASP8):c.1304G>A (p.Arg435Gln)	CASP8 (R230Q +14 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2151955	NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs)	CASP8 (V347fs +14 more)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2146528	NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg)	CASP8 (K23R +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2141556	NM_001372051.1(CASP8):c.495C>T (p.Ala165=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2134179	NM_001372051.1(CASP8):c.1322C>T (p.Thr441Ile)	CASP8 (T441I +14 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2132453	NM_001372051.1(CASP8):c.306G>A (p.Arg102=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2130976	NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe)	CASP8	Insertion (inframe_insertion +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2130921	NM_001372051.1(CASP8):c.455T>G (p.Leu152Arg)	CASP8 (L152R +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2121519	NM_001372051.1(CASP8):c.519G>T (p.Lys173Asn)	CASP8 (K205N +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2120767	NM_001372051.1(CASP8):c.749A>G (p.Lys250Arg)	CASP8 (K147R +10 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2101467	NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly)	CASP8 (R141G +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2098005	NM_001372051.1(CASP8):c.306-2000C>T	CASP8	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2088692	NM_001372051.1(CASP8):c.367C>A (p.Leu123Ile)	CASP8 (L182I +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2085121	NM_001372051.1(CASP8):c.1197T>C (p.Phe399=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2081380	NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser)	CASP8 (R33S +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2080126	NM_001372051.1(CASP8):c.920T>G (p.Met307Arg)	CASP8 (M102R +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2072614	NM_001372051.1(CASP8):c.306-1954_306-1953del	CASP8 (Q120fs)	Microsatellite (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2060334	NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly)	CASP8 (R88G +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2057981	NM_001372051.1(CASP8):c.1378G>T (p.Gly460Trp)	CASP8 (G246W +14 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2051483	NM_001372051.1(CASP8):c.342A>T (p.Arg114Ser)	CASP8 (R11S +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2049504	NM_001372051.1(CASP8):c.306-2006G>A	CASP8	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2042958	NM_001372051.1(CASP8):c.550+20C>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2037856	NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)	CASP8 (Q204* +11 more)	Single nucleotide variant (nonsense +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2025395	NM_001372051.1(CASP8):c.661-18T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2006663	NM_001372051.1(CASP8):c.867A>G (p.Val289=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2002530	NM_001372051.1(CASP8):c.1264A>C (p.Ile422Leu)	CASP8 (I319L +14 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1995082	NM_001372051.1(CASP8):c.824A>G (p.Glu275Gly)	CASP8 (E61G +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1988928	NM_001372051.1(CASP8):c.1415A>G (p.Lys472Arg)	CASP8 (K267R +14 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1986916	NM_001372051.1(CASP8):c.1071T>A (p.Ile357=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1984610	NM_001372051.1(CASP8):c.550+17A>G	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1974499	NM_001372051.1(CASP8):c.815C>A (p.Thr272Lys)	CASP8 (T257K +13 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1973002	NM_001372051.1(CASP8):c.305+14_305+19del	CASP8	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1964971	NM_001372051.1(CASP8):c.426T>C (p.Ile142=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1953110	NM_001372051.1(CASP8):c.550+3A>G	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1935186	NM_001372051.1(CASP8):c.306-1930dup	CASP8 (V128fs)	Duplication (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 1934719	NM_001372051.1(CASP8):c.411+17T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1934313	NM_001372051.1(CASP8):c.174T>C (p.Asn58=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1932241	NM_001372051.1(CASP8):c.306-1974C>A	CASP8 (A113E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1930115	NM_001372051.1(CASP8):c.505A>C (p.Lys169Gln)	CASP8 (K201Q +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1923319	NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn)	CASP8 (D68N +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1920163	NM_001372051.1(CASP8):c.633T>G (p.Ser211=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1910356	NM_001372051.1(CASP8):c.412-9T>G	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1721167	NM_001372051.1(CASP8):c.697C>G (p.Arg233Gly)	CASP8 (R130G +11 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1719870	NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys)	CASP8 (R111K +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1718185	NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser)	CASP8 (I157S +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1713475	NM_001372051.1(CASP8):c.618G>C (p.Met206Ile)	CASP8 (M103I +6 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1668534	NM_001372051.1(CASP8):c.267A>G (p.Glu89=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1667931	NM_001372051.1(CASP8):c.803-14A>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1666951	NM_001372051.1(CASP8):c.465A>G (p.Gly155=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1666653	NM_001372051.1(CASP8):c.411+7C>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign

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