ClinVar for Gene (Select 6588) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2601305	NM_003063.3(SLN):c.8T>C (p.Ile3Thr)	SLN (I3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590379	NM_003063.3(SLN):c.65T>C (p.Met22Thr)	SLN (M22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475286	NM_003063.3(SLN):c.73C>A (p.Leu25Ile)	SLN (L25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +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 688419	GRCh37/hg19 11q22.3(chr11:107546688-108077391)x3	ACAT1, CUL5 +4 more	Copy number gain	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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 395420	GRCh37/hg19 11q22.3(chr11:107537206-107582654)x3	ELMOD1, SLN	Copy number gain	See cases	GBenign
Select item 394232	GRCh37/hg19 11q22.3(chr11:107537206-107925627)x3	CUL5, ELMOD1 +3 more	Copy number gain	See cases	GLikely benign
Select item 221844	GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3	SLN, ACAT1 +3 more	Copy number gain	Premature ovarian failure	GBenign
Select item 151258	GRCh38/hg38 11q22.3(chr11:107656034-107998014)x3	ELMOD1, LOC126861330 +10 more	Copy number gain	See cases	GLikely benign
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25