C0028754[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6993	NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	CARTPT (L61F)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 561005	NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)	ENPP1 (H777R)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +6 more	GUncertain significance
Select item 11985	NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	GLDC (R515S)	Single nucleotide variant (missense variant)	GLDC-related condition +5 more	GPathogenic
Select item 633026	NM_000352.6(ABCC8):c.1176+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +4 more	GPathogenic
Select item 1029698	NM_003356.4(UCP3):c.490G>A (p.Asp164Asn)	UCP3 (D164N)	Single nucleotide variant (missense variant)	UCP3-related condition +1 more	GUncertain significance
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 206608	NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)	POLG, POLGARF (L424fs)	Microsatellite (frameshift variant)	Generalized epilepsy +4 more	GPathogenic
Select item 36486	NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	MC4R (I269N)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GConflicting classifications of pathogenicity
Select item 328039	NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)	SMARCA4 (R1443Q +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +4 more	GUncertain significance