ClinVar for Gene (Select 3933) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063105	GRCh37/hg19 9q34.3(chr9:137892345-138866686)x3	CAMSAP1, GLT6D1 +12 more	Copy number gain	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 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659710	NM_002297.4(LCN1):c.162G>A (p.Val54=)	LCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602790	NM_002297.4(LCN1):c.400G>A (p.Val134Met)	LCN1 (V134M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545896	NM_002297.4(LCN1):c.463C>T (p.Arg155Cys)	LCN1 (R155C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485179	NM_002297.4(LCN1):c.415A>G (p.Lys139Glu)	LCN1 (K139E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
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 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2391596	NM_002297.4(LCN1):c.499C>G (p.Gln167Glu)	LCN1 (Q167E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346060	NM_002297.4(LCN1):c.454G>A (p.Ala152Thr)	LCN1 (A152T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342000	NM_002297.4(LCN1):c.464G>A (p.Arg155His)	LCN1 (A151T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326051	NM_002297.4(LCN1):c.526G>A (p.Asp176Asn)	LCN1 (D176N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226778	NM_002297.4(LCN1):c.233G>A (p.Arg78Gln)	LCN1 (R78Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 929394	GRCh37/hg19 9q34.3(chr9:137880493-138781516)x3	PPP1R26, SOHLH1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 815303	GRCh37/hg19 9q34.3(chr9:138023579-138498904)x3	PPP1R26, LCN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	TMEM250, PPP1R26 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 711321	NM_002297.4(LCN1):c.298G>C (p.Gly100Arg)	LCN1 (G100R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711320	NM_002297.4(LCN1):c.297G>A (p.Gly99=)	LCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +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 563657	GRCh37/hg19 9q34.3(chr9:137736478-138563159)x3	LINC02907, OLFM1 +11 more	Copy number gain	not provided	GUncertain significance
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 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443824	GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	ABCA2, AGPAT2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 442899	GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	ABCA2, AGPAT2 +88 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394347	GRCh37/hg19 9q34.3(chr9:138222049-138711104)x3	CAMSAP1, GLT6D1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 393947	GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	ABCA2, AGPAT2 +88 more	Copy number loss	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	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130003003, LOC130003004 +417 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003086, LOC130003087 +530 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 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 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64