ClinVar for Gene (Select 126859963) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2495660	NM_000600.5(IL6):c.168A>C (p.Gln56His)	IL6, IL6-AS1 +1 more (Q33H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2245276	NM_000600.5(IL6):c.119C>A (p.Ala40Asp)	IL6, IL6-AS1 +1 more (A17D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768143	NM_000600.5(IL6):c.94C>T (p.Pro32Ser)	IL6, IL6-AS1 +1 more (P32S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 717506	NM_000600.5(IL6):c.183C>T (p.Leu61=)	IL6, IL6-AS1 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 709119	NM_000600.5(IL6):c.91C>A (p.Pro31Thr)	IL6, IL6-AS1 +1 more (P31T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 708101	NM_000600.5(IL6):c.195A>C (p.Ser65=)	IL6, IL6-AS1 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 144726	GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3	HYCC1, IL6 +23 more	Copy number gain	See cases	GUncertain significance
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 14718	NC_000007.14:g.22727026C>G	LOC126859963, IL6 +1 more	Single nucleotide variant (genic upstream transcript variant)	Crohn disease-associated growth failure, susceptibility to +5 more	Gother; risk factor

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Links from Gene

Items: 21