C3151303[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068724	NM_006180.6(NTRK2):c.213-2A>G	LOC130001952, NTRK2	Single nucleotide variant (splice acceptor variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068729	NM_006180.6(NTRK2):c.986A>G (p.Tyr329Cys)	NTRK2 (Y173C +2 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068730	NM_006180.6(NTRK2):c.1634-3C>G	NTRK2	Single nucleotide variant (intron variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068731	NM_006180.6(NTRK2):c.1651C>T (p.Arg551Ter)	NTRK2 (R379* +4 more)	Single nucleotide variant (nonsense)	Obesity, hyperphagia, and developmental delay	GLikely pathogenic
Select item 3068732	NM_006180.6(NTRK2):c.1652G>A (p.Arg551Gln)	NTRK2 (R379Q +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GLikely pathogenic
Select item 3068733	NM_006180.6(NTRK2):c.1922T>G (p.Leu641Arg)	NTRK2 (L469R +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 982875	NM_006180.6(NTRK2):c.2012A>G (p.His671Arg)	NTRK2 (H499R +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068734	NM_006180.6(NTRK2):c.2072G>A (p.Arg691His)	NTRK2 (R519H +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068735	NM_006180.6(NTRK2):c.2087G>A (p.Arg696Lys)	NTRK2 (R524K +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068736	NM_006180.6(NTRK2):c.2141C>T (p.Ser714Phe)	NTRK2 (S542F +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068726	NM_006180.6(NTRK2):c.2143C>T (p.Arg715Trp)	NTRK2 (R543W +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068725	NM_006180.6(NTRK2):c.2144G>A (p.Arg715Gln)	NTRK2 (R543Q +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 2810275	NM_006180.6(NTRK2):c.2164T>G (p.Tyr722Asp)	NTRK2 (Y550D +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 3068727	NM_006180.6(NTRK2):c.2168A>C (p.Tyr723Ser)	NTRK2 (Y551S +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 3068728	NM_006180.6(NTRK2):c.2404A>T (p.Met802Leu)	NTRK2 (M630L +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance