23368[HGNC] - ClinVar

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Items: 64

	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 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 3042318	NM_033446.3(MVB12B):c.38CGC[3] (p.Pro16del)	MVB12B (P16del)	Microsatellite	MVB12B-related disorder	GLikely benign
Select item 3060638	NM_033446.3(MVB12B):c.135G>A (p.Thr45=)	MVB12B	Single nucleotide variant (synonymous variant)	MVB12B-related disorder	GBenign
Select item 2532002	NM_033446.3(MVB12B):c.139A>G (p.Met47Val)	MVB12B (M47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151436	NM_033446.3(MVB12B):c.145C>G (p.Pro49Ala)	MVB12B (P49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224693	NM_033446.3(MVB12B):c.175C>T (p.Arg59Trp)	MVB12B (R59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249401	NM_033446.3(MVB12B):c.194G>A (p.Gly65Asp)	MVB12B (G65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061019	NM_033446.3(MVB12B):c.297A>G (p.Ser99=)	MVB12B	Single nucleotide variant (synonymous variant)	MVB12B-related disorder	GBenign
Select item 3151448	NM_033446.3(MVB12B):c.335T>C (p.Val112Ala)	MVB12B (V112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212625	NM_033446.3(MVB12B):c.388A>G (p.Ile130Val)	MVB12B (I130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659497	NM_033446.3(MVB12B):c.468G>A (p.Thr156=)	MVB12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151455	NM_033446.3(MVB12B):c.491G>A (p.Arg164Gln)	MVB12B (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616618	NM_033446.3(MVB12B):c.520C>G (p.Pro174Ala)	MVB12B (P174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052638	NM_033446.3(MVB12B):c.540-4A>G	MVB12B	Single nucleotide variant (intron variant)	MVB12B-related disorder	GLikely benign
Select item 3151462	NM_033446.3(MVB12B):c.614C>T (p.Thr205Met)	MVB12B (T205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036925	NM_033446.3(MVB12B):c.615G>A (p.Thr205=)	MVB12B	Single nucleotide variant (synonymous variant)	MVB12B-related disorder	GLikely benign
Select item 2458918	NM_033446.3(MVB12B):c.653A>G (p.Asn218Ser)	MVB12B (N218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225959	NM_033446.3(MVB12B):c.653A>C (p.Asn218Thr)	MVB12B (N218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538358	NM_033446.3(MVB12B):c.698G>T (p.Gly233Val)	MVB12B (G233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354663	NM_033446.3(MVB12B):c.716C>T (p.Thr239Met)	MVB12B (T239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618981	NM_033446.3(MVB12B):c.724G>A (p.Glu242Lys)	MVB12B (E242K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297075	NM_033446.3(MVB12B):c.780G>T (p.Met260Ile)	MVB12B (M260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040728	NM_033446.3(MVB12B):c.814-10G>A	MVB12B	Single nucleotide variant (intron variant)	MVB12B-related disorder	GLikely benign
Select item 3049532	NM_033446.3(MVB12B):c.874-10G>A	MVB12B	Single nucleotide variant (intron variant)	MVB12B-related disorder	GLikely benign
Select item 3297076	NM_033446.3(MVB12B):c.877G>A (p.Glu293Lys)	MVB12B (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355450	NM_033446.3(MVB12B):c.889C>T (p.Arg297Cys)	MVB12B (R297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234065	NM_033446.3(MVB12B):c.889C>G (p.Arg297Gly)	MVB12B (R297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775278	NM_033446.3(MVB12B):c.918C>T (p.Leu306=)	MVB12B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 7012	NC_000009.12:g.(126507040_126613928)_(126701032_126804072)del	LOC130002616, LMX1B +13 more	Deletion	Nail-patella syndrome	GPathogenic
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 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807656	GRCh37/hg19 9q33.3(chr9:129256988-129403346)x3	LMX1B, MVB12B	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	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 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 979877	GRCh37/hg19 9q33.3(chr9:129257643-129403346)x3	MVB12B, LMX1B	Copy number gain	not provided	GUncertain significance
Select item 815295	GRCh37/hg19 9q33.3(chr9:129137576-129384914)x3	MVB12B, LMX1B +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 685115	GRCh37/hg19 9q33.3(chr9:129251840-129409117)x3	MVB12B, LMX1B	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
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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 64