ClinVar for Gene (Select 3606) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285786	NM_001562.4(IL18):c.197T>G (p.Phe66Cys)	IL18 (F62C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109199	NM_001562.4(IL18):c.74T>G (p.Phe25Cys)	IL18 (F25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109198	NM_001562.4(IL18):c.398G>A (p.Ser133Asn)	IL18 (S133N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684655	GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	BCO2, DIXDC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2537526	NM_001562.4(IL18):c.500G>A (p.Arg167Lys)	IL18 (R163K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	BCO2, ALG9 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979324	GRCh37/hg19 11q23.1(chr11:111974627-112188807)x1	PLET1, PTS +4 more	Copy number loss	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 812623	NM_001562.4(IL18):c.-8-919T>C	IL18	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812622	NM_001562.4(IL18):c.361-1974C>T	IL18	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812621	NM_001562.4(IL18):c.105A>C (p.Ser35=)	IL18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786213	NM_001562.4(IL18):c.80-5C>A	IL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749979	NM_001562.4(IL18):c.216T>G (p.Ser72=)	IL18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27