IL5RA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
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 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150610	GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1	CHL1, CHL1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 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 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57737	GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1	CHL1, CHL1-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
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 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 60049	GRCh38/hg38 3p26.3-26.2(chr3:2301168-3219257)x1	CNTN4, CNTN4-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57693	GRCh38/hg38 3p26.3-26.2(chr3:2577647-3615783)x3	CNTN4, CNTN4-AS1 +22 more	Copy number gain	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 154282	GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3	CNTN4, CNTN4-AS1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 145953	GRCh38/hg38 3p26.2(chr3:3048683-3077797)x3	CNTN4, CNTN4-AS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 153379	GRCh38/hg38 3p26.2(chr3:3060140-3263298)x1	CNTN4-AS1, CRBN +9 more	Copy number loss	See cases	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 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 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 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 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 2602824	NM_175726.4(IL5RA):c.965G>T (p.Trp322Leu)	IL5RA (W322L)	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 3285901	NM_175726.4(IL5RA):c.923T>C (p.Val308Ala)	IL5RA (V308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2234372	NM_175726.4(IL5RA):c.841A>C (p.Asn281His)	IL5RA (N281H)	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 791905	NM_175726.4(IL5RA):c.709+8C>T	IL5RA	Single nucleotide variant (intron variant)	not provided	GBenign
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 2565365	NM_175726.4(IL5RA):c.640C>A (p.Leu214Ile)	IL5RA (L214I)	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 2477579	NM_175726.4(IL5RA):c.571G>T (p.Gly191Trp)	IL5RA (G191W)	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 2238700	NM_175726.4(IL5RA):c.504G>C (p.Gln168His)	IL5RA (Q168H)	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 3285903	NM_175726.4(IL5RA):c.458T>A (p.Leu153His)	IL5RA (L153H)	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 725782	NM_175726.4(IL5RA):c.432A>G (p.Ser144=)	IL5RA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2236369	NM_175726.4(IL5RA):c.386T>C (p.Ile129Thr)	IL5RA (I129T)	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 2361410	NM_175726.4(IL5RA):c.296G>A (p.Arg99Gln)	IL5RA (R99Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2250610	NM_175726.4(IL5RA):c.257G>T (p.Cys86Phe)	IL5RA (C86F)	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 2510531	NM_175726.4(IL5RA):c.224A>T (p.Asp75Val)	IL5RA (D75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2508642	NM_175726.4(IL5RA):c.150G>C (p.Trp50Cys)	IL5RA (W50C)	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 3109456	NM_175726.4(IL5RA):c.10G>A (p.Val4Met)	IL5RA (V4M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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

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