ICOS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
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 1094790	NM_012092.4(ICOS):c.9A>C (p.Ser3=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
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 2002817	NM_012092.4(ICOS):c.17G>A (p.Trp6Ter)	ICOS (W6*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
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 439812	NM_012092.4(ICOS):c.40C>T (p.Arg14Cys)	ICOS (R14C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1 +2 more	GBenign
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 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 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 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 663980	NM_012092.4(ICOS):c.58+1G>A	ICOS	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +1 more	GLikely pathogenic
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 333732	NM_012092.4(ICOS):c.58+9T>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GConflicting classifications of pathogenicity
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 2819886	NM_012092.4(ICOS):c.58+20T>G	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1275514	NM_012092.4(ICOS):c.58+173T>C	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5501	NM_012092.4(ICOS):c.59-594_501+93del	ICOS	Deletion (splice acceptor variant +1 more)	Immunodeficiency, common variable, 1	GPathogenic
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 2825202	NM_012092.4(ICOS):c.59-7T>C	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1410123	NM_012092.4(ICOS):c.59-3C>T	ICOS	Single nucleotide variant (intron variant)	not provided +1 more	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 949085	NM_012092.4(ICOS):c.71G>T (p.Gly24Val)	ICOS (G24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841396	NM_012092.4(ICOS):c.77C>A (p.Ala26Asp)	ICOS (A26D)	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 788962	NM_012092.4(ICOS):c.93T>C (p.Phe31=)	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 282569	NM_012092.4(ICOS):c.105C>T (p.Asn35=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1 +1 more	GConflicting classifications of pathogenicity
Select item 858766	NM_012092.4(ICOS):c.106G>A (p.Gly36Arg)	ICOS (G36R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1 +1 more	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 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 2585218	NM_012092.4(ICOS):c.136_139del (p.Asp46fs)	ICOS (D46fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GLikely pathogenic
Select item 333733	NM_012092.4(ICOS):c.150A>G (p.Gln50=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GBenign
Select item 779693	NM_012092.4(ICOS):c.163T>C (p.Leu55=)	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 940397	NM_012092.4(ICOS):c.181del (p.Ile61fs)	ICOS (I61fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GPathogenic
Select item 333734	NM_012092.4(ICOS):c.184C>T (p.Leu62Phe)	ICOS (L62F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1	GUncertain significance
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 538691	NM_012092.4(ICOS):c.186C>T (p.Leu62=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 792886	NM_012092.4(ICOS):c.189C>T (p.Cys63=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 666602	NM_012092.4(ICOS):c.189C>A (p.Cys63Ter)	ICOS (C63*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
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 847746	NM_012092.4(ICOS):c.229A>G (p.Ile77Val)	ICOS (I77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2906621	NM_012092.4(ICOS):c.249C>T (p.Cys83=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
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 2993769	NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)	ICOS (Y97*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
Select item 2872742	NM_012092.4(ICOS):c.294del (p.Leu99fs)	ICOS (L99fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GPathogenic
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 1449576	NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter)	ICOS (Y106*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 1	GPathogenic
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 2233425	NM_012092.4(ICOS):c.337A>G (p.Ile113Val)	ICOS (I113V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003841	NM_012092.4(ICOS):c.357del (p.Phe119fs)	ICOS (F119fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 1	GPathogenic
Select item 827707	NM_012092.4(ICOS):c.356T>C (p.Phe119Ser)	ICOS (F119S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 1 +1 more	GConflicting classifications of pathogenicity
Select item 784704	NM_012092.4(ICOS):c.375A>G (p.Gly125=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GConflicting classifications of pathogenicity
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 2797046	NM_012092.4(ICOS):c.387T>C (p.His129=)	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 573877	NM_012092.4(ICOS):c.394+2T>C	ICOS	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 1	GLikely pathogenic
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 1554236	NM_012092.4(ICOS):c.394+9T>C	ICOS	Single nucleotide variant (intron 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 3014372	NM_012092.4(ICOS):c.394+17A>G	ICOS	Single nucleotide variant (intron 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 1250210	NM_012092.4(ICOS):c.395-303G>T	ICOS	Single nucleotide variant (intron variant)	not provided	GBenign
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 3000161	NM_012092.4(ICOS):c.395-18C>A	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign
Select item 1927554	NM_012092.4(ICOS):c.395-17del	ICOS	Deletion (intron 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 1542220	NM_012092.4(ICOS):c.395-15T>C	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 538689	NM_012092.4(ICOS):c.401A>C (p.Gln134Pro)	ICOS (Q134P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 1607208	NM_012092.4(ICOS):c.411C>T (p.Cys137=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
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 2028856	NM_012092.4(ICOS):c.427T>C (p.Leu143=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
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 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 497910	NM_012092.4(ICOS):c.451G>C (p.Val151Leu)	ICOS (V151L)	Single nucleotide variant (missense variant)	ICOS-related condition +2 more	GConflicting classifications of pathogenicity
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 1126339	NM_012092.4(ICOS):c.471A>G (p.Gly157=)	ICOS	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 1	GLikely benign
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 895773	NM_012092.4(ICOS):c.495A>C (p.Thr165=)	ICOS	Single nucleotide variant (synonymous 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 2611750	NM_012092.4(ICOS):c.500A>T (p.Lys167Met)	ICOS (K167M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 624172	NM_012092.4(ICOS):c.501+6C>G	ICOS	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 333735	NM_012092.4(ICOS):c.501+6C>T	ICOS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 333736	NM_012092.4(ICOS):c.501+7G>A	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GBenign
Select item 2956231	NM_012092.4(ICOS):c.501+12C>T	ICOS	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 1	GLikely benign

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