14288[HGNC] - 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 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 58500	GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3	LOC113839534, LOC121366032 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148239	GRCh38/hg38 9q34.13(chr9:132018736-132237086)x1	LOC121366032, LOC126860780 +4 more	Copy number loss	See cases	GUncertain significance
Select item 739685	NM_032536.4(NTNG2):c.27G>A (p.Leu9=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3301304	NM_032536.4(NTNG2):c.85G>A (p.Asp29Asn)	NTNG2 (D29N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777189	NM_032536.4(NTNG2):c.134G>A (p.Arg45His)	NTNG2 (R45H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1701584	NM_032536.4(NTNG2):c.147C>T (p.Tyr49=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659640	NM_032536.4(NTNG2):c.214-8C>G	NTNG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 763477	NM_032536.4(NTNG2):c.214-7G>A	NTNG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 691559	NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr)	NTNG2 (C81Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +1 more	GPathogenic/Likely pathogenic
Select item 3067445	NM_032536.4(NTNG2):c.272C>T (p.Pro91Leu)	NTNG2 (P91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691556	NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly)	NTNG2 (W107G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +1 more	GPathogenic/Likely pathogenic
Select item 2659641	NM_032536.4(NTNG2):c.348C>G (p.Pro116=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 690370	NM_032536.4(NTNG2):c.376dup (p.Ser126fs)	NTNG2 (S126fs)	Duplication (frameshift variant)	Global developmental delay +4 more	GPathogenic
Select item 2623723	NM_032536.4(NTNG2):c.409G>A (p.Val137Met)	NTNG2 (V137M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1180710	NM_032536.4(NTNG2):c.422T>C (p.Phe141Ser)	NTNG2 (F141S)	Single nucleotide variant (missense variant)	Abnormality of the nervous system	GLikely pathogenic
Select item 691560	NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)	NTNG2 (M149T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2659642	NM_032536.4(NTNG2):c.471C>T (p.Asn157=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268940	NM_032536.4(NTNG2):c.547C>G (p.Arg183Gly)	NTNG2 (R183G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3067742	NM_032536.4(NTNG2):c.597C>T (p.Tyr199=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691561	NM_032536.4(NTNG2):c.599C>T (p.Ser200Leu)	NTNG2 (S200L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2659643	NM_032536.4(NTNG2):c.615C>G (p.Ser205=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2263596	NM_032536.4(NTNG2):c.647G>T (p.Arg216Leu)	NTNG2 (R216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067256	NM_032536.4(NTNG2):c.657C>T (p.Phe219=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729325	NM_032536.4(NTNG2):c.717C>T (p.Ser239=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2486428	NM_032536.4(NTNG2):c.718G>A (p.Ala240Thr)	NTNG2 (A240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1222197	NM_032536.4(NTNG2):c.738C>T (p.Phe246=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3250589	NM_032536.4(NTNG2):c.750C>T (p.Thr250=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218564	NM_032536.4(NTNG2):c.803G>A (p.Arg268Gln)	NTNG2 (R268Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202627	NM_032536.4(NTNG2):c.805G>A (p.Glu269Lys)	NTNG2 (E269K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012219	NM_032536.4(NTNG2):c.858-13G>A	NTNG2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	GConflicting classifications of pathogenicity
Select item 727933	NM_032536.4(NTNG2):c.858-3C>T	NTNG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278426	NM_032536.4(NTNG2):c.876C>T (p.His292=)	NTNG2	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +1 more	GBenign
Select item 2328041	NM_032536.4(NTNG2):c.905G>A (p.Ser302Asn)	NTNG2 (S302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659644	NM_032536.4(NTNG2):c.921C>T (p.Cys307=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599153	NM_032536.4(NTNG2):c.935C>T (p.Thr312Ile)	NTNG2 (T312I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242032	NM_032536.4(NTNG2):c.943G>T (p.Asp315Tyr)	NTNG2 (D315Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	GUncertain significance
Select item 2585488	NM_032536.4(NTNG2):c.949G>A (p.Gly317Ser)	NTNG2 (G317S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 2500771	NM_032536.4(NTNG2):c.964A>C (p.Asn322His)	NTNG2 (N322H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	GUncertain significance
Select item 2220543	NM_032536.4(NTNG2):c.974C>T (p.Thr325Ile)	NTNG2 (T325I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480963	NM_032536.4(NTNG2):c.977G>A (p.Arg326Gln)	NTNG2 (R326Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410359	NM_032536.4(NTNG2):c.995C>T (p.Ser332Phe)	NTNG2 (S332F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327005	NM_032536.4(NTNG2):c.1036A>G (p.Thr346Ala)	NTNG2 (T346A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2471430	NM_032536.4(NTNG2):c.1043G>T (p.Gly348Val)	NTNG2 (G348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705608	NM_032536.4(NTNG2):c.1058G>A (p.Cys353Tyr)	NTNG2 (C353Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	GUncertain significance
Select item 691558	NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp)	NTNG2 (C355W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +1 more	GPathogenic/Likely pathogenic
Select item 691557	NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys)	NTNG2 (S359C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2215359	NM_032536.4(NTNG2):c.1120G>A (p.Val374Ile)	NTNG2 (V374I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396171	NM_032536.4(NTNG2):c.1301C>G (p.Ala434Gly)	NTNG2 (A434G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286777	NM_032536.4(NTNG2):c.1301C>T (p.Ala434Val)	NTNG2 (A434V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264444	NM_032536.4(NTNG2):c.1357C>T (p.Pro453Ser)	LOC130002870, NTNG2 (P453S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691555	NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr)	NTNG2 (C456Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +1 more	GPathogenic/Likely pathogenic
Select item 2569432	NM_032536.4(NTNG2):c.1408C>G (p.Leu470Val)	NTNG2 (L470V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1012220	NM_032536.4(NTNG2):c.1425C>G (p.Cys475Trp)	NTNG2 (C475W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	GUncertain significance
Select item 747432	NM_032536.4(NTNG2):c.1431C>T (p.Cys477=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2387321	NM_032536.4(NTNG2):c.1485C>A (p.Asp495Glu)	NTNG2 (D495E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569433	NM_032536.4(NTNG2):c.1492G>A (p.Gly498Ser)	NTNG2 (G498S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067477	NM_032536.4(NTNG2):c.1532_1538dup (p.Thr514fs)	NTNG2 (T514fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2487659	NM_032536.4(NTNG2):c.1526C>T (p.Ala509Val)	NTNG2 (A509V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259749	NM_032536.4(NTNG2):c.1574C>T (p.Ala525Val)	NTNG2 (A525V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027091	NM_032536.4(NTNG2):c.1582C>T (p.Leu528=)	NTNG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 980355	GRCh37/hg19 9q34.13(chr9:134921153-135214984)x3	MED27, SETX +1 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 563636	GRCh37/hg19 9q34.13(chr9:135056357-135568321)x3	CFAP77, DDX31 +5 more	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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