1493[geneid] - 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 2651833	NC_000002.12:g.203866287dup	CTLA4	Duplication	not provided	GBenign
Select item 1166995	NC_000002.12:g.203866796C>T	CTLA4	Single nucleotide variant	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GBenign
Select item 827698	NC_000002.12:g.203867482_203869297del	CTLA4	Deletion	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 1261285	NC_000002.12:g.203867500T>A	CTLA4	Single nucleotide variant	not provided	GBenign
Select item 1168343	NC_000002.12:g.203867624C>T	CTLA4	Single nucleotide variant	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency +1 more	GBenign
Select item 636546	NM_005214.5(CTLA4):c.-4A>G	CTLA4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 852228	NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs)	CTLA4 (A2fs)	Insertion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 542072	NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser)	CTLA4 (A2S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1002644	NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp)	CTLA4 (R8W)	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 475275	NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln)	CTLA4 (R8Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1105012	NM_005214.5(CTLA4):c.30G>A (p.Lys10=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 645984	NM_005214.5(CTLA4):c.37_53del (p.Leu13fs)	CTLA4 (L13fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 1082699	NM_005214.5(CTLA4):c.42C>T (p.Asn14=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 16921	NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)	CTLA4 (T17A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency +2 more	GBenign
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 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 280759	NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter)	CTLA4 (W20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 837696	NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg)	CTLA4 (P21R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1545300	NM_005214.5(CTLA4):c.63C>T (p.Pro21=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
Select item 1439020	NM_005214.5(CTLA4):c.71_72del (p.Leu24fs)	CTLA4 (L24fs)	Microsatellite (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 1044869	NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile)	CTLA4 (T23I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 644629	NM_005214.5(CTLA4):c.81dup (p.Leu28fs)	CTLA4 (L28fs)	Duplication (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 475280	NM_005214.5(CTLA4):c.75G>C (p.Leu25=)	CTLA4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 161110	NM_005214.5(CTLA4):c.75del (p.Leu28fs)	CTLA4 (L28fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
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 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 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 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 736975	NM_005214.5(CTLA4):c.93C>T (p.Ile31=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 855611	NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser)	CTLA4 (P32S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1496303	NM_005214.5(CTLA4):c.97G>A (p.Val33Ile)	CTLA4 (V33I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 161112	NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter)	CTLA4 (C35*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 837868	NM_005214.5(CTLA4):c.109+1G>A	CTLA4	Single nucleotide variant (splice donor variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely pathogenic
Select item 161113	NM_005214.5(CTLA4):c.109+1G>T	CTLA4	Single nucleotide variant (splice donor variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely pathogenic
Select item 1232853	NM_005214.5(CTLA4):c.109+76A>G	CTLA4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 2987067	NM_005214.5(CTLA4):c.110-7A>T	CTLA4	Single nucleotide variant (intron variant)	CTLA4-related condition +1 more	GLikely benign
Select item 1082907	NM_005214.5(CTLA4):c.110-7A>G	CTLA4	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 1467277	NM_005214.5(CTLA4):c.110-3T>C	CTLA4	Single nucleotide variant (intron variant)	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 566522	NM_005214.4(CTLA4):c.110_118delCAATGCACG	CTLA4	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 969142	NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs)	CTLA4 (H39fs)	Indel (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 723894	NM_005214.5(CTLA4):c.117C>T (p.His39=)	CTLA4	Single nucleotide variant (synonymous variant)	CTLA4-related condition +1 more	GLikely benign
Select item 430906	NM_005214.5(CTLA4):c.118G>A (p.Val40Met)	CTLA4 (V40M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 827699	NC_000002.12:g.203870597_203875386del	LOC129935461, LOC129935462 +1 more	Deletion	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827700	NM_005214.5(CTLA4):c.127C>G (p.Pro43Ala)	CTLA4 (P43A)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 1312019	NM_005214.5(CTLA4):c.136G>A (p.Val46Ile)	CTLA4 (V46I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393552	NM_005214.5(CTLA4):c.137T>C (p.Val46Ala)	CTLA4 (V46A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1483087	NM_005214.5(CTLA4):c.141G>A (p.Leu47=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 161109	NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)	CTLA4 (R51*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
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 1420586	NM_005214.5(CTLA4):c.155G>T (p.Gly52Val)	CTLA4 (G52V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 871301	NM_005214.5(CTLA4):c.155G>A (p.Gly52Asp)	CTLA4 (G52D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154997	NM_005214.5(CTLA4):c.159C>T (p.Ile53=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 430905	NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)	CTLA4 (A54T)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GConflicting classifications of pathogenicity
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 973634	NM_005214.5(CTLA4):c.172_175del (p.Cys58fs)	CTLA4 (C58fs)	Microsatellite (frameshift variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 1879517	NM_005214.5(CTLA4):c.171G>T (p.Val57=)	CTLA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107353	NM_005214.5(CTLA4):c.171G>A (p.Val57=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 643372	NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser)	CTLA4 (C58S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 798988	NM_005214.5(CTLA4):c.177G>A (p.Glu59=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 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 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 728031	NM_005214.5(CTLA4):c.198C>A (p.Ala66=)	CTLA4	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GLikely benign
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 161114	NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)	CTLA4 (R70W)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency +1 more	GConflicting classifications of pathogenicity
Select item 811325	NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	CTLA4 (R70Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 572851	NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer)	CTLA4	Deletion (nonsense)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 839887	NM_005214.5(CTLA4):c.211G>T (p.Val71Leu)	CTLA4 (V71L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
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
Select item 546886	NM_005214.5(CTLA4):c.214A>C (p.Thr72Pro)	CTLA4 (T72P)	Single nucleotide variant (missense variant)	not provided	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 757980	NM_005214.5(CTLA4):c.216A>G (p.Thr72=)	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 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 945024	NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp)	CTLA4 (R75W)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GPathogenic
Select item 943305	NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln)	CTLA4 (R75Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	GUncertain significance
Select item 1029948	NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter)	CTLA4 (Q76*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	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 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 1801487	NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)	CTLA4	Indel (inframe_deletion)	Immunodeficiency, common variable, 1	GLikely pathogenic
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

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