ClinVar for Gene (Select 3568) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285904	NM_175726.4(IL5RA):c.1186T>C (p.Ser396Pro)	IL5RA (S396P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285903	NM_175726.4(IL5RA):c.458T>A (p.Leu153His)	IL5RA (L153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285902	NM_175726.4(IL5RA):c.1202T>C (p.Ile401Thr)	IL5RA (I401T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285901	NM_175726.4(IL5RA):c.923T>C (p.Val308Ala)	IL5RA (V308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285900	NM_175726.4(IL5RA):c.284C>T (p.Ser95Leu)	IL5RA (S95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285899	NM_175726.4(IL5RA):c.500C>T (p.Thr167Met)	IL5RA (T167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3109461	NM_175726.4(IL5RA):c.905C>G (p.Ser302Cys)	IL5RA (S302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109460	NM_175726.4(IL5RA):c.41C>T (p.Ala14Val)	IL5RA (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109458	NM_175726.4(IL5RA):c.343T>G (p.Ser115Ala)	IL5RA (S115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109457	NM_175726.4(IL5RA):c.1124T>C (p.Ile375Thr)	IL5RA (I375T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109456	NM_175726.4(IL5RA):c.10G>A (p.Val4Met)	IL5RA (V4M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109455	NM_175726.4(IL5RA):c.1072C>G (p.Leu358Val)	IL5RA (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109454	NM_175726.4(IL5RA):c.1034T>C (p.Ile345Thr)	IL5RA (I345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109453	NM_175726.4(IL5RA):c.1004A>C (p.Glu335Ala)	IL5RA (E335A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062684	GRCh37/hg19 3p26.3-26.2(chr3:1921405-3582840)x3	CNTN4, CRBN +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685901	GRCh37/hg19 3p26.3-26.2(chr3:2325704-3741221)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2602824	NM_175726.4(IL5RA):c.965G>T (p.Trp322Leu)	IL5RA (W322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565365	NM_175726.4(IL5RA):c.640C>A (p.Leu214Ile)	IL5RA (L214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543548	NM_175726.4(IL5RA):c.836C>A (p.Thr279Lys)	IL5RA (T279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510531	NM_175726.4(IL5RA):c.224A>T (p.Asp75Val)	IL5RA (D75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508642	NM_175726.4(IL5RA):c.150G>C (p.Trp50Cys)	IL5RA (W50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484826	NM_175726.4(IL5RA):c.939C>G (p.Ser313Arg)	IL5RA (S313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477579	NM_175726.4(IL5RA):c.571G>T (p.Gly191Trp)	IL5RA (G191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461525	NM_175726.4(IL5RA):c.695C>G (p.Ala232Gly)	IL5RA (A232G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374816	NM_175726.4(IL5RA):c.1196C>T (p.Thr399Met)	IL5RA (T399M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361410	NM_175726.4(IL5RA):c.296G>A (p.Arg99Gln)	IL5RA (R99Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326244	NM_175726.4(IL5RA):c.402C>G (p.Cys134Trp)	IL5RA (C134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303033	NM_175726.4(IL5RA):c.440G>A (p.Arg147Lys)	IL5RA (R147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299866	NM_175726.4(IL5RA):c.238A>G (p.Arg80Gly)	IL5RA (R80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293046	NM_175726.4(IL5RA):c.623G>C (p.Arg208Pro)	IL5RA (R208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288874	NM_175726.4(IL5RA):c.536C>A (p.Thr179Asn)	IL5RA (T179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250610	NM_175726.4(IL5RA):c.257G>T (p.Cys86Phe)	IL5RA (C86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238700	NM_175726.4(IL5RA):c.504G>C (p.Gln168His)	IL5RA (Q168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236369	NM_175726.4(IL5RA):c.386T>C (p.Ile129Thr)	IL5RA (I129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234372	NM_175726.4(IL5RA):c.841A>C (p.Asn281His)	IL5RA (N281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808804	GRCh37/hg19 3p26.3-26.2(chr3:61892-3459560)x1	CHL1, CNTN4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808511	GRCh37/hg19 3p26.3-26.1(chr3:2347813-6381546)x3	ARL8B, BHLHE40 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526987	GRCh37/hg19 3p26.2(chr3:2864842-3297580)	CNTN4, CRBN +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526986	GRCh37/hg19 3p26.3-26.2(chr3:2748457-3330624)	CNTN4, CRBN +2 more	Copy number loss	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1340860	GRCh37/hg19 3p26.2(chr3:2864842-3297580)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340818	GRCh37/hg19 3p26.2(chr3:2886526-3197036)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 1180543	GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 1047886	GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)	ARL8B, BHLHE40 +12 more	Copy number loss	Abnormal brain morphology	GPathogenic
Select item 997055	GRCh37/hg19 3p26.3-26.1(chr3:73914-4356052)	SETMAR, TRNT1 +6 more	Copy number loss	Fetal growth restriction	GLikely pathogenic
Select item 997052	GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)	CHL1, CNTN4 +5 more	Copy number loss	Autism +1 more	GLikely pathogenic
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 814416	GRCh37/hg19 3p26.2(chr3:3136087-3692515)x3	IL5RA, TRNT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814409	GRCh37/hg19 3p26.3-26.2(chr3:2034354-3425608)x3	IL5RA, CNTN4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 791905	NM_175726.4(IL5RA):c.709+8C>T	IL5RA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725801	NM_175726.4(IL5RA):c.177G>T (p.Arg59Ser)	IL5RA (R59S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725782	NM_175726.4(IL5RA):c.432A>G (p.Ser144=)	IL5RA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688515	GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 687650	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 687648	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 625697	GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572)	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 562729	GRCh37/hg19 3p26.3-26.2(chr3:2091064-3638783)x1	IL5RA, CRBN +2 more	Copy number loss	not provided	GUncertain significance
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 562690	GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1	CRBN, LRRN1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562689	GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1	TRNT1, SUMF1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562688	GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1	SETMAR, EDEM1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562687	GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1	EDEM1, EGOT +13 more	Copy number loss	not provided	GPathogenic
Select item 562686	GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1	IL5RA, BHLHE40 +11 more	Copy number loss	not provided	GPathogenic
Select item 562685	GRCh37/hg19 3p26.3-26.1(chr3:61891-4098164)x1	CHL1, TRNT1 +5 more	Copy number loss	not provided	GPathogenic
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Seizure +2 more	GLikely pathogenic
Select item 443797	GRCh37/hg19 3p26.2-26.1(chr3:2930451-5953602)x1	ARL8B, BHLHE40 +10 more	Copy number loss	See cases	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 443360	GRCh37/hg19 3p26.3-26.1(chr3:61891-7456866)x1	ARL8B, BHLHE40 +13 more	Copy number loss	See cases	GPathogenic
Select item 443052	GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1	ARL8B, BHLHE40 +17 more	Copy number loss	See cases	GPathogenic
Select item 442402	GRCh37/hg19 3p26.3-26.1(chr3:61891-4196715)x3	CHL1, CNTN4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 442243	GRCh37/hg19 3p26.3-26.1(chr3:61891-7865381)x1	SETMAR, SUMF1 +13 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 393789	GRCh37/hg19 3p26.3-26.2(chr3:1153789-3374704)x3	CNTN4, CNTN6 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253992	GRCh37/hg19 3p26.3-26.2(chr3:2724887-3529351)x3	CNTN4, IL5RA +2 more	Copy number gain	See cases	GUncertain significance
Select item 253369	GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1	CRBN, CHL1 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155626	GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1	CHL1, CHL1-AS1 +37 more	Copy number loss	See cases	GUncertain significance
Select item 155549	GRCh38/hg38 3p26.3-26.2(chr3:2740571-3165943)x3	CNTN4, CNTN4-AS1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 154669	GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1	CHL1, CHL1-AS1 +72 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 154282	GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3	CNTN4, CNTN4-AS1 +17 more	Copy number gain	See cases	GUncertain significance

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