ClinVar for Gene (Select 54734) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312144	NM_017516.3(RAB39A):c.95G>A (p.Arg32His)	LOC130006689, RAB39A (R32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244457	NC_000011.9:g.(?_107829383)_(108179594_?)del	ACAT1, ATM +3 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2600146	NM_017516.3(RAB39A):c.239G>T (p.Arg80Leu)	RAB39A (R80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333596	NM_017516.3(RAB39A):c.568T>C (p.Trp190Arg)	RAB39A (W190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289156	NM_017516.3(RAB39A):c.221G>T (p.Arg74Leu)	LOC130006690, RAB39A (R74L)	Single nucleotide variant (missense variant)	not specified	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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340355	GRCh37/hg19 11q22.3(chr11:107582884-107838385)x3	RAB39A, SLC35F2	Copy number gain	not provided	GLikely benign
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 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 688546	GRCh37/hg19 11q22.3(chr11:107744785-107950571)x3	CUL5, RAB39A	Copy number gain	not provided	GUncertain significance
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 685260	GRCh37/hg19 11q22.3(chr11:107789951-107950571)x3	CUL5, RAB39A	Copy number gain	not provided	GUncertain significance
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 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
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	LOC130006596, LOC130006597 +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	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29