ClinVar for MedGen (Select 460728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3014372	NM_012092.4(ICOS):c.394+17A>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 3000161	NM_012092.4(ICOS):c.395-18C>A	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2993769	NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)	ICOS (Y97*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
Select item 2956231	NM_012092.4(ICOS):c.501+12C>T	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2906621	NM_012092.4(ICOS):c.249C>T (p.Cys83=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2892196	NM_012092.4(ICOS):c.501+16C>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2872742	NM_012092.4(ICOS):c.294del (p.Leu99fs)	ICOS (L99fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GPathogenic
Select item 2825202	NM_012092.4(ICOS):c.59-7T>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2819886	NM_012092.4(ICOS):c.58+20T>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2798846	NM_012092.4(ICOS):c.555A>G (p.Ala185=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2797046	NM_012092.4(ICOS):c.387T>C (p.His129=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2788992	NM_012092.4(ICOS):c.102C>T (p.His34=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2738409	NM_012092.4(ICOS):c.525C>T (p.Asp175=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2729103	NM_012092.4(ICOS):c.58+13T>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2585218	NM_012092.4(ICOS):c.136_139del (p.Asp46fs)	ICOS (D46fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GLikely pathogenic
Select item 2424841	NM_012092.4(ICOS):c.477A>G (p.Ile159Met)	ICOS (I159M)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	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 2417191	NM_012092.4(ICOS):c.190G>A (p.Asp64Asn)	ICOS (D64N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 2180699	NM_012092.4(ICOS):c.578G>A (p.Arg193Lys)	ICOS (R193K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 2180698	NM_012092.4(ICOS):c.576T>C (p.Ser192=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2139021	NM_012092.4(ICOS):c.24C>A (p.Phe8Leu)	ICOS (F8L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 2127430	NM_012092.4(ICOS):c.395-19A>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2108835	NM_012092.4(ICOS):c.395-4C>A	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2096856	NM_012092.4(ICOS):c.595C>T (p.Leu199=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2075783	NM_012092.4(ICOS):c.394+14T>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2062208	NM_012092.4(ICOS):c.586+11A>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2028856	NM_012092.4(ICOS):c.427T>C (p.Leu143=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2005634	NM_012092.4(ICOS):c.394+19C>T	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 2003841	NM_012092.4(ICOS):c.357del (p.Phe119fs)	ICOS (F119fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GPathogenic
Select item 2002817	NM_012092.4(ICOS):c.17G>A (p.Trp6Ter)	ICOS (W6*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
Select item 1978453	NM_012092.4(ICOS):c.43A>G (p.Ile15Val)	ICOS (I15V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1969734	NM_012092.4(ICOS):c.416T>G (p.Leu139Arg)	ICOS (L139R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1962751	NM_012092.4(ICOS):c.451G>A (p.Val151Ile)	ICOS (V151I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1927554	NM_012092.4(ICOS):c.395-17del	ICOS	Deletion (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
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 1715492	NM_012092.4(ICOS):c.523G>C (p.Asp175His)	ICOS (D175H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1672023	NM_012092.4(ICOS):c.552A>G (p.Arg184=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1623844	NM_012092.4(ICOS):c.522C>T (p.His174=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1607208	NM_012092.4(ICOS):c.411C>T (p.Cys137=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1600853	NM_012092.4(ICOS):c.395-10dup	ICOS	Duplication (intron variant)	Immunodeficiency, common variable, 1	GBenign
Select item 1570679	NM_012092.4(ICOS):c.586+20T>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1554236	NM_012092.4(ICOS):c.394+9T>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1549428	NM_012092.4(ICOS):c.59-16C>A	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1542220	NM_012092.4(ICOS):c.395-15T>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1536623	NM_012092.4(ICOS):c.186C>G (p.Leu62=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1533424	NM_012092.4(ICOS):c.586+12T>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1513759	NM_012092.4(ICOS):c.406T>C (p.Cys136Arg)	ICOS (C136R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1510436	NM_012092.4(ICOS):c.562_573del (p.Thr188_Lys191del)	ICOS	Deletion (inframe_deletion)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	C2CD6, CASP8 +25 more	Deletion	Immunodeficiency, common variable, 1 +2 more	GPathogenic
Select item 1449576	NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter)	ICOS (Y106*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
Select item 1427829	NM_012092.4(ICOS):c.547A>G (p.Met183Val)	ICOS (M183V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1416139	NM_012092.4(ICOS):c.235A>C (p.Ser79Arg)	ICOS (S79R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1410123	NM_012092.4(ICOS):c.59-3C>T	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1 +1 more	GUncertain significance
Select item 1401042	NC_000002.11:g.(?_204820339)_(204824322_?)del	ICOS	Deletion	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1393631	NM_012092.4(ICOS):c.58+4A>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1382633	NM_012092.4(ICOS):c.41G>A (p.Arg14His)	ICOS (R14H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1382325	NM_012092.4(ICOS):c.509C>T (p.Ser170Leu)	ICOS (S170L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1380061	NM_012092.4(ICOS):c.85G>A (p.Glu29Lys)	ICOS (E29K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1374578	NM_012092.4(ICOS):c.496A>G (p.Lys166Glu)	ICOS (K166E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1360187	NM_012092.4(ICOS):c.514A>G (p.Ser172Gly)	ICOS (S172G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1359008	NM_012092.4(ICOS):c.61G>T (p.Glu21Ter)	ICOS (E21*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
Select item 1356239	NM_012092.4(ICOS):c.584C>T (p.Thr195Ile)	ICOS (T195I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1285249	NM_012092.4(ICOS):c.587-26T>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1 +2 more	GBenign
Select item 1159862	NM_012092.4(ICOS):c.438A>T (p.Gly146=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1 +1 more	GLikely benign
Select item 1156642	NM_012092.4(ICOS):c.599A>G (p.Ter200=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1150573	NM_012092.4(ICOS):c.336A>G (p.Ser112=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1147555	NM_012092.4(ICOS):c.390T>A (p.Ile130=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1147315	NM_012092.4(ICOS):c.177G>A (p.Gly59=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1126339	NM_012092.4(ICOS):c.471A>G (p.Gly157=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1125431	NM_012092.4(ICOS):c.402A>G (p.Gln134=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1109077	NM_012092.4(ICOS):c.294C>T (p.Asn98=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1107128	NM_012092.4(ICOS):c.394+7C>T	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1094790	NM_012092.4(ICOS):c.9A>C (p.Ser3=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1094377	NM_012092.4(ICOS):c.516T>C (p.Ser172=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1093824	NM_012092.4(ICOS):c.567C>G (p.Ala189=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1058053	NM_012092.4(ICOS):c.502-6_502-5insG	ICOS	Insertion (intron variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1053379	NM_012092.4(ICOS):c.376G>A (p.Gly126Arg)	ICOS (G126R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1035995	NM_012092.4(ICOS):c.580C>A (p.Leu194Ile)	ICOS (L194I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1031176	NM_012092.4(ICOS):c.129A>T (p.Lys43Asn)	ICOS (K43N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 1002484	NM_012092.4(ICOS):c.466T>G (p.Leu156Val)	ICOS (L156V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 969831	NM_012092.4(ICOS):c.45T>G (p.Ile15Met)	ICOS (I15M)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 969446	NM_012092.4(ICOS):c.271A>G (p.Ser91Gly)	ICOS (S91G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 960748	NM_012092.4(ICOS):c.128A>G (p.Lys43Arg)	ICOS (K43R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 955894	NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp)	NFKB2 (R616W +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 949085	NM_012092.4(ICOS):c.71G>T (p.Gly24Val)	ICOS (G24V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1 +1 more	GUncertain significance
Select item 940529	NM_012092.4(ICOS):c.13C>T (p.Leu5Phe)	ICOS (L5F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 940397	NM_012092.4(ICOS):c.181del (p.Ile61fs)	ICOS (I61fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GPathogenic
Select item 936305	NM_012092.4(ICOS):c.512C>A (p.Ser171Tyr)	ICOS (S171Y)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 898806	NM_012092.4(ICOS):c.*1025A>T	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 898805	NM_012092.4(ICOS):c.*939A>G	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 898739	NM_012092.4(ICOS):c.42C>A (p.Arg14=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GConflicting classifications of pathogenicity
Select item 898738	NM_012092.4(ICOS):c.-24G>T	ICOS	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 897716	NM_012092.4(ICOS):c.*1948G>T	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 897715	NM_012092.4(ICOS):c.*1901A>G	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 897641	NM_012092.4(ICOS):c.*594C>T	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 897640	NM_012092.4(ICOS):c.*512T>C	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 897639	NM_012092.4(ICOS):c.*474G>T	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 897638	NM_012092.4(ICOS):c.*399G>A	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 896121	NM_012092.4(ICOS):c.*1869A>C	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance
Select item 896120	NM_012092.4(ICOS):c.*1457A>G	ICOS	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 1	GUncertain significance

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