ClinVar for MedGen (Select 1646861) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068730	NM_006180.6(NTRK2):c.1634-3C>G	NTRK2	Single nucleotide variant (intron variant)	Obesity, hyperphagia, and developmental delay +1 more	GUncertain significance
Select item 2671960	NM_006180.6(NTRK2):c.1306G>C (p.Val436Leu)	NTRK2 (V280L +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 58	GUncertain significance
Select item 2584557	NM_006180.6(NTRK2):c.1870G>C (p.Val624Leu)	NTRK2 (V452L +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1878576	NM_006180.6(NTRK2):c.1429T>A (p.Ser477Thr)	NTRK2 (S321T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1805145	NM_006180.6(NTRK2):c.1438G>A (p.Gly480Ser)	NTRK2 (G324S +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 58	GUncertain significance
Select item 1696741	NM_006180.6(NTRK2):c.1234A>G (p.Asn412Asp)	NTRK2 (N256D +3 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay +1 more	GUncertain significance
Select item 1599583	NM_006180.6(NTRK2):c.1396+10del	NTRK2	Deletion (intron variant)	Obesity, hyperphagia, and developmental delay +2 more	GBenign/Likely benign
Select item 1574065	NM_006180.6(NTRK2):c.288-15T>C	NTRK2	Single nucleotide variant (intron variant)	Obesity, hyperphagia, and developmental delay +2 more	GBenign/Likely benign
Select item 1515143	NM_006180.6(NTRK2):c.1549G>A (p.Val517Ile)	NTRK2 (V361I +4 more)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay +3 more	GUncertain significance
Select item 1341751	NM_006180.6(NTRK2):c.25G>A (p.Gly9Arg)	NTRK2 (G9R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 58 +2 more	GUncertain significance
Select item 1276690	NM_006180.6(NTRK2):c.212+40C>T	NTRK2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 58 +2 more	GBenign
Select item 1249612	NM_006180.6(NTRK2):c.1937+13G>A	NTRK2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 58 +2 more	GBenign
Select item 1148855	NM_006180.6(NTRK2):c.500C>A (p.Ser167Tyr)	NTRK2 (S11Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 728564	NM_006180.6(NTRK2):c.2478G>A (p.Leu826=)	NTRK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 722021	NM_006180.6(NTRK2):c.1962G>A (p.Leu654=)	NTRK2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 58 +3 more	GLikely benign
Select item 285975	NM_006180.6(NTRK2):c.2430C>T (p.Pro810=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 285265	NM_006180.6(NTRK2):c.2113C>T (p.Leu705=)	NTRK2	Single nucleotide variant (synonymous variant)	Obesity, hyperphagia, and developmental delay +3 more	GBenign/Likely benign
Select item 268204	NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)	NTRK2 (Y434C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic