IL3[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 545310	NC_000005.10:g.(?_131428263)_(132208822_?)del	ACSL6, ACSL6-AS1 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 782452	NM_000588.4(IL3):c.7C>T (p.Arg3Cys)	IL3 (R3C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2589374	NM_000588.4(IL3):c.16G>A (p.Val6Ile)	IL3 (V6I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285868	NM_000588.4(IL3):c.77C>T (p.Thr26Met)	IL3 (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371322	NM_000588.4(IL3):c.159G>T (p.Leu53Phe)	IL3 (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720302	NM_000588.4(IL3):c.179A>G (p.Asn60Ser)	IL3 (N60S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2309692	NM_000588.4(IL3):c.182G>A (p.Gly61Glu)	IL3 (G61E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 715603	NM_000588.4(IL3):c.189C>T (p.Asp63=)	IL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715604	NM_000588.4(IL3):c.294+9A>T	IL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2275501	NM_000588.4(IL3):c.335C>T (p.Thr112Met)	IL3 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249584	NM_000588.4(IL3):c.352A>G (p.Ile118Val)	IL3 (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254635	NM_000588.4(IL3):c.369G>C (p.Trp123Cys)	IL3 (W123C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3109374	NM_000588.4(IL3):c.379C>T (p.Arg127Trp)	IL3 (R127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213199	NM_000588.4(IL3):c.380G>T (p.Arg127Leu)	IL3 (R127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109375	NM_000588.4(IL3):c.386A>G (p.Lys129Arg)	IL3 (K129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109376	NM_000588.4(IL3):c.449C>T (p.Ala150Val)	IL3 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	IL3, LYRM7 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 685993	GRCh37/hg19 5q31.1(chr5:131107107-131528744)x3	ACSL6, CSF2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	POLR3G, POU4F3 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 34