ClinVar for Gene (Select 158046) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203507	NM_001161625.2(NXNL2):c.389G>T (p.Arg130Leu)	NXNL2 (R130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203506	NM_001161625.2(NXNL2):c.350T>C (p.Ile117Thr)	NXNL2 (I117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203505	NM_001161625.2(NXNL2):c.293C>G (p.Pro98Arg)	NXNL2 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063078	GRCh37/hg19 9q22.1(chr9:90814416-91528751)x1	NXNL2, SPIN1	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685047	GRCh37/hg19 9q22.1(chr9:91122262-91407454)x4	NXNL2	Copy number gain	not provided	GUncertain significance
Select item 2624351	NM_001161625.2(NXNL2):c.61G>A (p.Glu21Lys)	NXNL2 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615233	NM_001161625.2(NXNL2):c.137C>A (p.Pro46Gln)	NXNL2 (P46Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613373	NM_001161625.2(NXNL2):c.415G>A (p.Ala139Thr)	NXNL2 (A139T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603758	NM_001161625.2(NXNL2):c.248T>A (p.Met83Lys)	NXNL2 (M83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468264	NM_001161625.2(NXNL2):c.99C>G (p.Phe33Leu)	NXNL2 (F33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459965	NM_001161625.2(NXNL2):c.23G>C (p.Arg8Pro)	NXNL2 (R8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369900	NM_001161625.2(NXNL2):c.250C>G (p.Arg84Gly)	NXNL2 (R84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261128	NM_001161625.2(NXNL2):c.63G>C (p.Glu21Asp)	NXNL2 (E21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226284	NM_001161625.2(NXNL2):c.389G>A (p.Arg130Gln)	NXNL2 (R130Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	C9orf47, CDK20 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 979267	GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1	CKS2, DAPK1-IT1 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 815266	GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3	AUH, C9orf47 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 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 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57292	GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1	C9orf47, CDK20 +131 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 44