4915[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 155667	GRCh38/hg38 9q21.33(chr9:84547445-84837143)x3	LOC130001948, LOC130001949 +7 more	Copy number gain	See cases	GUncertain significance
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 3047273	NM_006180.6(NTRK2):c.-10G>C	NTRK2	Single nucleotide variant (5 prime UTR variant)	NTRK2-related disorder	GLikely benign
Select item 2121500	NM_006180.6(NTRK2):c.3GTC[1] (p.Ser3del)	NTRK2 (S3del)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1992594	NM_006180.6(NTRK2):c.5C>G (p.Ser2Trp)	NTRK2 (S2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121136	NM_006180.6(NTRK2):c.6G>A (p.Ser2=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018937	NM_006180.6(NTRK2):c.6G>C (p.Ser2=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575375	NM_006180.6(NTRK2):c.6G>T (p.Ser2=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645325	NM_006180.6(NTRK2):c.18G>A (p.Arg6=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1953257	NM_006180.6(NTRK2):c.27A>G (p.Gly9=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001959	NM_006180.6(NTRK2):c.28C>G (p.Pro10Ala)	NTRK2 (P10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3357920	NM_006180.6(NTRK2):c.30C>T (p.Pro10=)	NTRK2	Single nucleotide variant (synonymous variant)	NTRK2-related disorder	GLikely benign
Select item 598633	NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)	NTRK2 (A11S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1598352	NM_006180.6(NTRK2):c.39G>A (p.Ala13=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425011	NM_006180.6(NTRK2):c.40C>T (p.Arg14Trp)	NTRK2 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411013	NM_006180.6(NTRK2):c.44T>A (p.Leu15His)	NTRK2 (L15H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629382	NM_006180.6(NTRK2):c.56G>A (p.Cys19Tyr)	NTRK2 (C19Y)	Single nucleotide variant (missense variant)	NTRK2-related disorder	GUncertain significance
Select item 3346034	NM_006180.6(NTRK2):c.57C>T (p.Cys19=)	NTRK2	Single nucleotide variant (synonymous variant)	NTRK2-related disorder	GLikely benign
Select item 1346882	NM_006180.6(NTRK2):c.65T>C (p.Val22Ala)	NTRK2 (V22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2240168	NM_006180.6(NTRK2):c.67G>A (p.Val23Met)	NTRK2 (V23M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1976628	NM_006180.6(NTRK2):c.84C>T (p.Ala28=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903191	NM_006180.6(NTRK2):c.84C>G (p.Ala28=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230105	NM_006180.6(NTRK2):c.86C>T (p.Ala29Val)	NTRK2 (A29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054145	NM_006180.6(NTRK2):c.91G>C (p.Ala31Pro)	NTRK2 (A31P)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 1424136	NM_006180.6(NTRK2):c.91G>A (p.Ala31Thr)	NTRK2 (A31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406038	NM_006180.6(NTRK2):c.100A>G (p.Thr34Ala)	NTRK2 (T34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089953	NM_006180.6(NTRK2):c.101C>G (p.Thr34Arg)	NTRK2 (T34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 985434	NM_006180.6(NTRK2):c.108C>A (p.Cys36Ter)	NTRK2 (C36*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2012883	NM_006180.6(NTRK2):c.115A>C (p.Ser39Arg)	NTRK2 (S39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638539	NM_006180.6(NTRK2):c.120C>T (p.Ala40=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794262	NM_006180.6(NTRK2):c.135C>T (p.Cys45=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634250	NM_006180.6(NTRK2):c.136A>C (p.Ser46Arg)	NTRK2 (S46R)	Single nucleotide variant (missense variant)	NTRK2-related disorder	GUncertain significance
Select item 1923636	NM_006180.6(NTRK2):c.138C>T (p.Ser46=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668643	NM_006180.6(NTRK2):c.144T>C (p.Pro48=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919539	NM_006180.6(NTRK2):c.148_150del (p.Pro50del)	NTRK2 (P50del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2041434	NM_006180.6(NTRK2):c.148C>T (p.Pro50Ser)	NTRK2 (P50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939704	NM_006180.6(NTRK2):c.154A>G (p.Ile52Val)	NTRK2 (I52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992787	NM_006180.6(NTRK2):c.156C>T (p.Ile52=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886681	NM_006180.6(NTRK2):c.157G>A (p.Val53Met)	NTRK2 (V53M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791043	NM_006180.6(NTRK2):c.159G>A (p.Val53=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659284	NM_006180.6(NTRK2):c.168G>A (p.Pro56=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336838	NM_006180.6(NTRK2):c.170G>T (p.Arg57Ile)	NTRK2 (R57I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3358516	NM_006180.6(NTRK2):c.171A>G (p.Arg57=)	NTRK2	Single nucleotide variant (synonymous variant)	NTRK2-related disorder	GLikely benign
Select item 1918458	NM_006180.6(NTRK2):c.172T>C (p.Leu58=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759466	NM_006180.6(NTRK2):c.173T>A (p.Leu58Ter)	NTRK2 (L58*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2709122	NM_006180.6(NTRK2):c.179C>T (p.Pro60Leu)	NTRK2 (P60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939234	NM_006180.6(NTRK2):c.180T>C (p.Pro60=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265355	NM_006180.6(NTRK2):c.184A>G (p.Ser62Gly)	NTRK2 (S62G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514225	NM_006180.6(NTRK2):c.184A>C (p.Ser62Arg)	NTRK2 (S62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732652	NM_006180.6(NTRK2):c.186T>C (p.Ser62=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962131	NM_006180.6(NTRK2):c.191A>C (p.Asp64Ala)	NTRK2 (D64A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349510	NM_006180.6(NTRK2):c.193C>A (p.Pro65Thr)	NTRK2 (P65T)	Single nucleotide variant (missense variant)	NTRK2-related disorder	GUncertain significance
Select item 3346601	NM_006180.6(NTRK2):c.197A>G (p.Glu66Gly)	NTRK2 (E66G)	Single nucleotide variant (missense variant)	NTRK2-related disorder	GUncertain significance
Select item 2431500	NM_006180.6(NTRK2):c.202A>T (p.Ile68Phe)	NTRK2 (I68F)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay	GUncertain significance
Select item 2729899	NM_006180.6(NTRK2):c.207C>G (p.Thr69=)	NTRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577069	NM_006180.6(NTRK2):c.208G>A (p.Glu70Lys)	NTRK2 (E70K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1409460	NM_006180.6(NTRK2):c.211A>G (p.Ile71Val)	NTRK2 (I71V)	Single nucleotide variant (missense variant)	Obesity, hyperphagia, and developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 1448570	NM_006180.6(NTRK2):c.212+3G>A	NTRK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 756131	NM_006180.6(NTRK2):c.212+8C>G	NTRK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636408	NM_006180.6(NTRK2):c.212+12G>C	NTRK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1641391	NM_006180.6(NTRK2):c.213-16C>G	LOC130001952, NTRK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549912	NM_006180.6(NTRK2):c.213-9T>C	LOC130001952, NTRK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570700	NM_006180.6(NTRK2):c.213-7del	LOC130001952, NTRK2	Deletion (intron variant)	not provided	GBenign/Likely benign
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 1975656	NM_006180.6(NTRK2):c.217A>G (p.Ile73Val)	LOC130001952, NTRK2 (I73V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1598051	NM_006180.6(NTRK2):c.219C>T (p.Ile73=)	LOC130001952, NTRK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419506	NM_006180.6(NTRK2):c.220G>A (p.Ala74Thr)	LOC130001952, NTRK2 (A74T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1577831	NM_006180.6(NTRK2):c.225C>T (p.Asn75=)	LOC130001952, NTRK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1543766	NM_006180.6(NTRK2):c.237A>G (p.Leu79=)	LOC130001952, NTRK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271068	NM_006180.6(NTRK2):c.241A>T (p.Ile81Phe)	LOC130001952, NTRK2 (I81F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1470750	NM_006180.6(NTRK2):c.241A>G (p.Ile81Val)	LOC130001952, NTRK2 (I81V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123382	NM_006180.6(NTRK2):c.249C>G (p.Asn83Lys)	LOC130001952, NTRK2 (N83K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1532575	NM_006180.6(NTRK2):c.249C>T (p.Asn83=)	LOC130001952, NTRK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2113907	NM_006180.6(NTRK2):c.258T>C (p.Asp86=)	LOC130001952, NTRK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3357104	NM_006180.6(NTRK2):c.262G>A (p.Glu88Lys)	LOC130001952, NTRK2 (E88K)	Single nucleotide variant (missense variant +1 more)	NTRK2-related disorder	GUncertain significance
Select item 2087698	NM_006180.6(NTRK2):c.271G>T (p.Val91Leu)	LOC130001952, NTRK2 (V91L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1344554	NM_006180.6(NTRK2):c.287+3G>C	NTRK2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1661309	NM_006180.6(NTRK2):c.287+11A>G	NTRK2	Single nucleotide variant (intron variant)	not provided	GLikely 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 2787634	NM_006180.6(NTRK2):c.288-10_288-9del	NTRK2	Microsatellite (intron variant)	not provided	GLikely benign

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