C0028754[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339332	NM_021969.3(NR0B2):c.712C>T (p.Arg238Cys)	NR0B2, NUDC (R238C)	Single nucleotide variant (missense variant)	Obesity +2 more	GUncertain significance
Select item 1285457	NM_005068.3(SIM1):c.817G>A (p.Asp273Asn)	SIM1 (D273N)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	AGPAT5, ANGPT2 +22 more	Copy number loss	Small hand +6 more	GPathogenic
Select item 976089	NM_014974.3(DIP2C):c.262C>T (p.Arg88Trp)	DIP2C (R88W)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 1338787	NM_173598.6(KSR2):c.2512C>T (p.Arg838Cys)	KSR2 (R838C)	Single nucleotide variant (missense variant)	Class III obesity +5 more	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1330175	GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1	UQCRC2, VWA3A +9 more	Copy number loss	Abnormal foot morphology +4 more	GPathogenic
Select item 562356	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	MC4R (Q156*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 14336	NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)	MC4R (S127L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 14319	NM_005912.2(MC4R):c.110A>T (p.Asp37Val)	MC4R (D37V)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GConflicting classifications of pathogenicity
Select item 2500302	NM_080552.3(SLC32A1):c.1121T>C (p.Leu374Pro)	SLC32A1 (L374P)	Single nucleotide variant (missense variant)	Obesity +2 more	GUncertain significance