ClinVar for Gene (Select 11009) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688458	NM_006850.3(IL24):c.240+99C>T	IL24	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688384	NM_006850.3(IL24):c.370T>C (p.Tyr124His)	IL24 (Y124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2530571	NM_006850.3(IL24):c.472G>A (p.Glu158Lys)	IL24 (E158K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2404361	NM_006850.3(IL24):c.593C>T (p.Thr198Ile)	IL24 (T146I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236490	NM_006850.3(IL24):c.264T>G (p.Ser88Arg)	IL24 (S89R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	FCMR, IL10 +19 more	Duplication	Inflammatory bowel disease +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 770860	NM_006850.3(IL24):c.538T>G (p.Leu180Val)	IL24 (L180V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734109	NM_006850.3(IL24):c.30G>T (p.Leu10=)	IL24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727218	NM_006850.3(IL24):c.29T>C (p.Leu10Pro)	IL24 (L10P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715555	NM_006850.3(IL24):c.303+7A>G	IL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	AVPR1B, AVPR1B-DT +278 more	Deletion	Autism	GLikely pathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 443302	GRCh37/hg19 1q32.1-32.2(chr1:206961307-207252090)x1	C1orf116, FCAMR +7 more	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27