ClinVar for MedGen (Select 167238) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6335951.	NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) GRCh37: Chr1:15788135 GRCh38: Chr1:15461640	CELA2A	T70M	Abdominal obesity-metabolic syndrome 4	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6335942.	NM_033440.3(CELA2A):c.639+1G>C GRCh37: Chr1:15792640 GRCh38: Chr1:15466145	CELA2A		Abdominal obesity-metabolic syndrome 4, Hypertensive disorder, Diabetes, Coronary artery disorder, Hypertriglyceridemia	Pathogenic (Oct 11, 2019)	no assertion criteria provided
Select item 6335933.	NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) GRCh37: Chr1:15789253 GRCh38: Chr1:15462758	CELA2A	L85M	Abdominal obesity-metabolic syndrome 4, Hypertensive disorder, Diabetes, Coronary artery disorder, Hypertriglyceridemia	Pathogenic (Oct 10, 2019)	no assertion criteria provided
Select item 6335924.	NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) GRCh37: Chr1:15789885 GRCh38: Chr1:15463390	CELA2A	D121N	Abdominal obesity-metabolic syndrome 4, Hypertensive disorder, Diabetes, Coronary artery disorder, Hypertriglyceridemia	Pathogenic (Oct 10, 2019)	no assertion criteria provided
Select item 5238865.	NM_000237.3(LPL):c.784C>T (p.Gln262Ter) GRCh37: Chr8:19813360 GRCh38: Chr8:19955849	LPL	Q262*	Hyperlipoproteinemia, type I, Hypertriglyceridemia, not provided	Conflicting interpretations of pathogenicity (Jan 22, 2020)	criteria provided, conflicting interpretations
Select item 3817336.	NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) GRCh37: Chr11:116661656 GRCh38: Chr11:116790940	APOA5	Q97*	Cardiovascular phenotype, Hypertriglyceridemia 1, not provided, Hypertriglyceridemia, Familial type 5 hyperlipoproteinemia	Pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2679247.	46;XY;t(16;20)(q23.1;p11.22)			Increased blood urea nitrogen, Bronchiolitis, Asthma, Encopresis, Delayed fine motor development, Hypertyrosinemia, Somatic sensory dysfunction, Hypertelorism, Monocytopenia, Abnormal circulating serine family amino acid concentration, Downturned corners of mouthHypertriglyceridemia, Neutropenia, Microdontia, Recurrent otitis media, Thin upper lip vermilion, Eczema, Triangular face, Delayed speech and language development, Frontal bossing, Tall stature, Sleep abnormality, Hyperhydroxyprolinemia, Abnormal emotion, Enuresis, ...see more	Uncertain significance (Aug 20, 2016)	criteria provided, single submitter
Select item 2253708.	NM_001486.4(GCKR):c.307G>A (p.Val103Met) GRCh37: Chr2:27721143 GRCh38: Chr2:27498276	GCKR	V103M	not specified, not provided, Fasting plasma glucose level quantitative trait locus 5, Hypertriglyceridemia	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations