ClinVar for Gene (Select 51162) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	GUncertain significance
Select item 3087637	NM_016215.5(EGFL7):c.469G>A (p.Gly157Ser)	EGFL7 (G157S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087636	NM_016215.5(EGFL7):c.260C>T (p.Ala87Val)	EGFL7 (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087635	NM_016215.5(EGFL7):c.206A>G (p.Tyr69Cys)	EGFL7 (Y69C)	Single nucleotide variant (missense variant +1 more)	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 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2619290	NM_016215.5(EGFL7):c.420A>T (p.Glu140Asp)	EGFL7 (E140D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615625	NM_016215.5(EGFL7):c.689A>G (p.Glu230Gly)	EGFL7 (E230G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551263	NM_016215.5(EGFL7):c.794G>A (p.Gly265Glu)	EGFL7 (G265E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546151	NM_016215.5(EGFL7):c.232G>A (p.Gly78Arg)	EGFL7 (G78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522552	NM_016215.5(EGFL7):c.451C>T (p.Arg151Cys)	EGFL7 (R151C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461560	NM_016215.5(EGFL7):c.680A>G (p.Gln227Arg)	EGFL7 (Q227R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ABCA2, ADAMTS13 +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 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2395730	NM_016215.5(EGFL7):c.64C>T (p.His22Tyr)	EGFL7 (H22Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386008	NM_016215.5(EGFL7):c.659C>T (p.Pro220Leu)	EGFL7 (P220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356608	NM_016215.5(EGFL7):c.517G>A (p.Gly173Ser)	EGFL7 (G173S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346311	NM_016215.5(EGFL7):c.701C>T (p.Pro234Leu)	EGFL7 (P234L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341834	NM_016215.5(EGFL7):c.74G>A (p.Arg25Gln)	EGFL7 (R25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338930	NM_016215.5(EGFL7):c.598G>C (p.Val200Leu)	EGFL7 (V200L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292936	NM_016215.5(EGFL7):c.388C>T (p.Arg130Trp)	EGFL7 (R130W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238211	NM_016215.5(EGFL7):c.769A>G (p.Ile257Val)	EGFL7 (I257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226298	NM_016215.5(EGFL7):c.133G>A (p.Val45Met)	EGFL7 (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216240	NM_016215.5(EGFL7):c.109G>A (p.Gly37Arg)	EGFL7 (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2215404	NM_016215.5(EGFL7):c.466G>A (p.Ala156Thr)	EGFL7 (A156T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 1807956	GRCh37/hg19 9q34.3(chr9:139307719-139563040)x3	C9orf163, EGFL7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527567	GRCh37/hg19 9q34.3(chr9:139563039-140310033)	ABCA2, AGPAT2 +50 more	Copy number loss	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1062726	NC_000009.11:g.(?_139297240)_(139572028_?)dup	EGFL7, MIR126 +7 more	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	CCDC183, LRRC26 +68 more	Copy number loss	Cryptorchidism +1 more	GPathogenic
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	RABL6, SAPCD2 +49 more	Duplication	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980359	GRCh37/hg19 9q34.3(chr9:139420166-139787562)x1	SNHG7, AJM1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	CIMIP2A, CLIC3 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 781671	NM_016215.5(EGFL7):c.799+8C>A	EGFL7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774468	NM_016215.5(EGFL7):c.335G>A (p.Arg112Gln)	EGFL7 (R112Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 716928	NM_016215.5(EGFL7):c.340G>A (p.Gly114Arg)	EGFL7 (G114R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 559399	Single allele	C9orf163, SEC16A +5 more	Duplication	Fetal growth restriction +4 more	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +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)	ABCA1, ABCA2 +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 394207	GRCh37/hg19 9q34.3(chr9:139566910-139751899)x3	AGPAT2, AJM1 +12 more	Copy number gain	See cases	GBenign
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	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +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 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +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	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	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 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +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	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 84