"GeneDx"[submitter] AND "NTRK2"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1246961	NM_006180.6(NTRK2):c.-372-55A>G	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295965	NM_006180.6(NTRK2):c.-69C>G	NTRK2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2829547	NM_006180.6(NTRK2):c.29C>A (p.Pro10His)	NTRK2 (P10H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327774	NM_006180.6(NTRK2):c.103T>C (p.Ser35Pro)	NTRK2 (S35P)	Single nucleotide variant (missense variant)	not provided	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 1178699	NM_006180.6(NTRK2):c.212+117G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259826	NM_006180.6(NTRK2):c.213-206A>T	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368361	NM_006180.6(NTRK2):c.286C>G (p.Leu96Val)	NTRK2 (L96V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326555	NM_006180.6(NTRK2):c.359+1G>C	NTRK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1266582	NM_006180.6(NTRK2):c.360-219T>C	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369962	NM_006180.6(NTRK2):c.400C>A (p.His134Asn)	NTRK2 (H134N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310882	NM_006180.6(NTRK2):c.488A>G (p.Gln163Arg)	NTRK2 (Q163R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371621	NM_006180.6(NTRK2):c.497A>T (p.Lys166Ile)	NTRK2 (K10I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343310	NM_006180.6(NTRK2):c.541A>G (p.Ser181Gly)	NTRK2 (S181G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267695	NM_006180.6(NTRK2):c.583+288A>G	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230119	NM_006180.6(NTRK2):c.584-221T>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342536	NM_006180.6(NTRK2):c.684G>A (p.Met228Ile)	NTRK2 (M228I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261971	NM_006180.6(NTRK2):c.721-140G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310396	NM_006180.6(NTRK2):c.746C>A (p.Ser249Tyr)	NTRK2 (S249Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1806564	NM_006180.6(NTRK2):c.779G>C (p.Ser260Thr)	NTRK2 (S104T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371572	NM_006180.6(NTRK2):c.983A>G (p.Lys328Arg)	NTRK2 (K172R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676864	NM_006180.6(NTRK2):c.1003C>G (p.His335Asp)	NTRK2 (H179D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699774	NM_006180.6(NTRK2):c.1079C>T (p.Thr360Ile)	NTRK2 (T204I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700430	NM_006180.6(NTRK2):c.1094A>G (p.Asn365Ser)	NTRK2 (N209S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327317	NM_006180.6(NTRK2):c.1117C>G (p.Gln373Glu)	NTRK2 (Q217E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270723	NM_006180.6(NTRK2):c.1195+271A>G	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278566	NM_006180.6(NTRK2):c.1196-318G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699811	NM_006180.6(NTRK2):c.1219A>G (p.Ile407Val)	NTRK2 (I251V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273327	NM_006180.6(NTRK2):c.1296+114G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296000	NM_006180.6(NTRK2):c.1296+119_1296+123del	NTRK2	Deletion (intron variant)	not provided	GBenign
Select item 1266519	NM_006180.6(NTRK2):c.1296+165G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 2574950	NM_006180.6(NTRK2):c.1328T>C (p.Val443Ala)	NTRK2 (V287A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363402	NM_006180.6(NTRK2):c.1397-50465G>A	NTRK2 (G321E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1278045	NM_006180.6(NTRK2):c.1397-148TTTA[8]	NTRK2	Microsatellite (intron variant)	not provided	GBenign
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 +1 more	GUncertain significance
Select item 1227426	NM_006180.6(NTRK2):c.1445-306G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1997144	NM_006180.6(NTRK2):c.1538G>A (p.Gly513Asp)	NTRK2 (G357D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574398	NM_006180.6(NTRK2):c.1569G>C (p.Lys523Asn)	NTRK2 (K351N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308850	NM_006180.6(NTRK2):c.1622A>G (p.Lys541Arg)	NTRK2 (K369R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712566	NM_006180.6(NTRK2):c.1684G>A (p.Glu562Lys)	NTRK2 (E390K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503350	NM_006180.6(NTRK2):c.1688G>C (p.Gly563Ala)	NTRK2 (G391A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225616	NM_006180.6(NTRK2):c.1765-235T>C	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235842	NM_006180.6(NTRK2):c.1765-125T>C	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279330	NM_006180.6(NTRK2):c.1765-7T>C	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268912	NM_006180.6(NTRK2):c.1848C>A (p.Ile616=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1706972	NM_006180.6(NTRK2):c.1859A>G (p.Tyr620Cys)	NTRK2 (Y448C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208533	NM_006180.6(NTRK2):c.1862G>A (p.Gly621Asp)	NTRK2 (G449D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313152	NM_006180.6(NTRK2):c.1874A>T (p.Glu625Val)	NTRK2 (E453V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1269737	NM_006180.6(NTRK2):c.1938-194C>T	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263509	NM_006180.6(NTRK2):c.1938-55C>T	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2503311	NM_006180.6(NTRK2):c.1943A>G (p.His648Arg)	NTRK2 (H476R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700295	NM_006180.6(NTRK2):c.2099T>C (p.Val700Ala)	NTRK2 (V528A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068726	NM_006180.6(NTRK2):c.2143C>T (p.Arg715Trp)	NTRK2 (R543W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1683943	NM_006180.6(NTRK2):c.2149G>A (p.Val717Met)	NTRK2 (V545M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1239021	NM_006180.6(NTRK2):c.2172+169G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276707	NM_006180.6(NTRK2):c.2172+273C>T	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331122	NM_006180.6(NTRK2):c.2176G>A (p.Gly726Ser)	NTRK2 (G554S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance OUncertain significance
Select item 3369871	NM_006180.6(NTRK2):c.2180G>A (p.Gly727Asp)	NTRK2 (G555D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524085	NM_006180.6(NTRK2):c.2218del (p.Ser740fs)	NTRK2 (S584fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1270437	NM_006180.6(NTRK2):c.2331+261C>T	NTRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365059	NM_006180.6(NTRK2):c.2375del (p.Arg792fs)	NTRK2 (R620fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2575764	NM_006180.6(NTRK2):c.2422C>T (p.Arg808Ter)	NTRK2 (R636* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1706292	NM_006180.6(NTRK2):c.2435T>G (p.Met812Arg)	NTRK2 (M640R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229901	NM_006180.6(NTRK2):c.267_268insC	NTRK2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 67