ClinVar for Gene (Select 1493) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 272

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078630	NM_005214.5(CTLA4):c.250G>A (p.Val84Ile)	CTLA4 (V84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065930	NM_005214.5(CTLA4):c.94C>G (p.Pro32Ala)	CTLA4 (P32A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 3065392	NM_005214.5(CTLA4):c.457+1_457+3del	CTLA4	Deletion (splice donor variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3046724	NM_005214.5(CTLA4):c.462A>C (p.Pro154=)	CTLA4	Single nucleotide variant (synonymous variant +1 more)	CTLA4-related condition	GLikely benign
Select item 3033903	NM_005214.5(CTLA4):c.457+1G>A	CTLA4	Single nucleotide variant (splice donor variant)	CTLA4-related condition	GPathogenic
Select item 3032071	NM_005214.5(CTLA4):c.472C>T (p.Pro158Ser)	CTLA4 (P158S)	Single nucleotide variant (missense variant +1 more)	CTLA4-related condition	GUncertain significance
Select item 3017144	NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile)	CTLA4 (T19I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 3011495	NM_005214.5(CTLA4):c.288C>T (p.Thr96=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 3002442	NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg)	CTLA4 (K65R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2987067	NM_005214.5(CTLA4):c.110-7A>T	CTLA4	Single nucleotide variant (intron variant)	CTLA4-related condition +1 more	GLikely benign
Select item 2985806	NM_005214.5(CTLA4):c.457+12C>A	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2957081	NM_005214.5(CTLA4):c.315C>T (p.Gly105=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2910783	NM_005214.5(CTLA4):c.258G>A (p.Ala86=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2901895	NM_005214.5(CTLA4):c.84T>C (p.Leu28=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2891972	NM_005214.5(CTLA4):c.568-13T>G	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2879567	NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn)	CTLA4 (S55N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2868985	NM_005214.5(CTLA4):c.457+13A>G	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2865043	NM_005214.5(CTLA4):c.400A>G (p.Met134Val)	CTLA4 (M134V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2864122	NM_005214.5(CTLA4):c.524T>A (p.Phe175Tyr)	CTLA4 (F175Y)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2841011	NM_005214.5(CTLA4):c.295G>C (p.Asp99His)	CTLA4 (D99H)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2840995	NM_005214.5(CTLA4):c.543C>T (p.Leu181=)	CTLA4, LOC129935461	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2830848	NM_005214.5(CTLA4):c.669T>C (p.Asn223=)	CTLA4	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2824416	NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg)	CTLA4 (G109R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2814250	NM_005214.5(CTLA4):c.420C>T (p.Tyr140=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2809576	NM_005214.5(CTLA4):c.300T>C (p.Asp100=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2796508	NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser)	CTLA4 (G52S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2791132	NM_005214.5(CTLA4):c.568-16T>C	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2786471	NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr)	CTLA4 (A77T)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2768035	NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu)	CTLA4 (P63L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2766058	NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile)	CTLA4, LOC129935461 (L180I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2760703	NM_005214.5(CTLA4):c.110-1G>A	CTLA4	Single nucleotide variant (splice acceptor variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely pathogenic
Select item 2759663	NM_005214.5(CTLA4):c.110-4C>G	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2748809	NM_005214.5(CTLA4):c.356T>A (p.Leu119Gln)	CTLA4 (L119Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2745525	NM_005214.5(CTLA4):c.413C>T (p.Pro138Leu)	CTLA4 (P138L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2731461	NM_005214.5(CTLA4):c.205G>A (p.Val69Ile)	CTLA4 (V69I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2711876	NM_005214.5(CTLA4):c.567+5G>A	CTLA4, LOC129935461	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2711664	NM_005214.5(CTLA4):c.519GTT[1] (p.Leu174del)	CTLA4 (L174del)	Microsatellite (inframe_deletion +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2704586	NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)	CTLA4 (Y139H)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2685874	GRCh37/hg19 2q33.2(chr2:204521345-204770485)x3	CD28, CTLA4	Copy number gain	not provided	GUncertain significance
Select item 2651833	NC_000002.12:g.203866287dup	CTLA4	Duplication	not provided	GBenign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2443104	NM_005214.5(CTLA4):c.228G>C (p.Gln76His)	CTLA4 (Q76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440604	NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)	CTLA4 (Y218*)	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2431823	NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)	CTLA4 (Y127*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely pathogenic
Select item 2430678	NM_005214.5(CTLA4):c.347T>A (p.Ile116Asn)	CTLA4 (I116N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425322	NC_000002.11:g.(?_204732666)_(204737535_?)dup	CTLA4	Duplication	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2425320	NC_000002.11:g.(?_204734049)_(204737535_?)del	CTLA4	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
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 2417292	NM_005214.5(CTLA4):c.588T>C (p.Leu196=)	CTLA4 (Y160H)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2365023	NM_005214.5(CTLA4):c.557T>C (p.Leu186Ser)	CTLA4, LOC129935461 (L186S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203245	NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro)	CTLA4 (T124P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2186394	NM_005214.5(CTLA4):c.487C>T (p.Leu163Phe)	CTLA4 (L163F)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2183427	NM_005214.5(CTLA4):c.364A>G (p.Met122Val)	CTLA4 (M122V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2183263	NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu)	CTLA4 (R8L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2156168	NM_005214.5(CTLA4):c.180T>C (p.Tyr60=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2151959	NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)	CTLA4 (W165*)	Single nucleotide variant (nonsense +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 2151958	NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)	CTLA4 (Y150*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 2151957	NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe)	CTLA4 (C58F)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2131343	NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)	CTLA4 (G144S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2131328	NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile)	CTLA4 (T17I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2128011	NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)	CTLA4 (A54P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 2120347	NM_005214.5(CTLA4):c.568C>T (p.Leu190=)	CTLA4 (A153V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2118617	NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)	CTLA4 (C103Y)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2109704	NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn)	CTLA4 (T88N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2109703	NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser)	CTLA4 (C85S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2097298	NM_005214.5(CTLA4):c.216dup (p.Val73fs)	CTLA4 (V73fs)	Duplication (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 2095898	NM_005214.5(CTLA4):c.312G>C (p.Thr104=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2092729	NM_005214.5(CTLA4):c.597G>T (p.Gly199=)	CTLA4 (G163C)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2074380	NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)	CTLA4 (T115I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2073367	NM_005214.5(CTLA4):c.654T>C (p.Tyr218=)	CTLA4	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2068456	NM_005214.5(CTLA4):c.81T>C (p.Phe27=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2058334	NM_005214.5(CTLA4):c.110-16G>T	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2054311	NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)	CTLA4 (I102V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2050205	NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)	CTLA4 (P154T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2022188	NM_005214.5(CTLA4):c.223C>A (p.Arg75=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 2018796	NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)	CTLA4 (A153S +1 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2016051	NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu)	CTLA4 (A169E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 2000968	NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr)	CTLA4 (I220T)	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1992827	NM_005214.5(CTLA4):c.246T>C (p.Thr82=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1957092	NM_005214.5(CTLA4):c.624G>A (p.Glu208=)	CTLA4 (A172T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1938383	NM_005214.5(CTLA4):c.458-19G>A	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1913423	NM_005214.5(CTLA4):c.390G>A (p.Lys130=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1879517	NM_005214.5(CTLA4):c.171G>T (p.Val57=)	CTLA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1801487	NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)	CTLA4	Indel (inframe_deletion)	Immunodeficiency, common variable, 1	GLikely pathogenic
Select item 1718934	NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)	CTLA4 (A48D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1716663	NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)	CTLA4 (Q80E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1711524	NM_005214.5(CTLA4):c.407C>T (p.Pro136Leu)	CTLA4 (P136L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1701406	NM_005214.5(CTLA4):c.366_367delinsAT (p.Met122_Asp123delinsIleTyr)	CTLA4	Indel (missense variant)	not provided	GUncertain significance
Select item 1652750	NM_005214.5(CTLA4):c.421C>T (p.Leu141=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1642287	NM_005214.5(CTLA4):c.87C>G (p.Leu29=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1613419	NM_005214.5(CTLA4):c.219G>C (p.Val73=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1608668	NM_005214.5(CTLA4):c.417C>T (p.Tyr139=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1585522	NM_005214.5(CTLA4):c.87C>T (p.Leu29=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1576441	NM_005214.5(CTLA4):c.457+14T>C	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1574761	NM_005214.5(CTLA4):c.213G>C (p.Val71=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign

<< First< Prev

Page of 3