ClinVar for Gene (Select 29851) - 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 2611750	NM_012092.4(ICOS):c.500A>T (p.Lys167Met)	ICOS (K167M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
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 2233425	NM_012092.4(ICOS):c.337A>G (p.Ile113Val)	ICOS (I113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
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 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 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 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
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 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	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 1296788	NM_012092.4(ICOS):c.501+126C>G	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288188	NM_012092.4(ICOS):c.502-228C>T	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287679	NM_012092.4(ICOS):c.501+117C>T	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
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 1280736	NM_012092.4(ICOS):c.502-257A>G	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275514	NM_012092.4(ICOS):c.58+173T>C	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261400	NM_012092.4(ICOS):c.587-109T>C	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250210	NM_012092.4(ICOS):c.395-303G>T	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235313	NM_012092.4(ICOS):c.502-113C>T	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162952	NM_012092.4(ICOS):c.587-12T>G	ICOS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic

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