27683[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	LOC126806099, LOC126806100 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153475	GRCh38/hg38 2p25.3(chr2:12770-2748672)x1	ACP1, ALKAL2 +50 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152339	GRCh38/hg38 2p25.3(chr2:12770-2310816)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 155002	GRCh38/hg38 2p25.3(chr2:17019-283213)x3	ACP1, ALKAL2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 152888	GRCh38/hg38 2p25.3(chr2:17019-2305267)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148920	GRCh38/hg38 2p25.3(chr2:17019-774946)x1	ACP1, ALKAL2 +27 more	Copy number loss	See cases	GUncertain significance
Select item 148892	GRCh38/hg38 2p25.3(chr2:17019-1645317)x1	ACP1, ALKAL2 +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 148720	GRCh38/hg38 2p25.3(chr2:17019-1029157)x1	ACP1, ALKAL2 +35 more	Copy number loss	See cases	GUncertain significance
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 150293	GRCh38/hg38 2p25.3(chr2:24400-817581)x3	ACP1, ALKAL2 +28 more	Copy number gain	See cases	GPathogenic
Select item 160975	GRCh38/hg38 2p25.3(chr2:30341-507042)x3	ALKAL2, SH3YL1 +18 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	LOC132088842, LOC132088843 +107 more	Copy number gain	See cases	GPathogenic
Select item 148175	GRCh38/hg38 2p25.3(chr2:30341-2656139)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 146260	GRCh38/hg38 2p25.3(chr2:30341-1969402)x1	ACP1, ALKAL2 +45 more	Copy number loss	See cases	GPathogenic
Select item 146223	GRCh38/hg38 2p25.3(chr2:30341-3449132)x1	ACP1, ALKAL2 +75 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 58344	GRCh38/hg38 2p25.3(chr2:30341-429942)x1	ACP1, ALKAL2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 33674	GRCh38/hg38 2p25.3(chr2:30341-507042)x3	ACP1, ALKAL2 +18 more	Copy number gain	See cases	GUncertain significance
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 153089	GRCh38/hg38 2p25.3(chr2:39193-992648)x1	ACP1, ALKAL2 +35 more	Copy number loss	See cases	GUncertain significance
Select item 147583	GRCh38/hg38 2p25.3(chr2:39193-1542734)x1	ACP1, ALKAL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 154817	GRCh38/hg38 2p25.3(chr2:131730-2713517)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 2551227	NM_001002919.3(ALKAL2):c.358C>T (p.His120Tyr)	ALKAL2 (H120Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539325	NM_001002919.3(ALKAL2):c.224G>C (p.Gly75Ala)	ALKAL2, LOC129932976 (G75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481180	NM_001002919.3(ALKAL2):c.166C>T (p.His56Tyr)	ALKAL2 (H56Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519173	NM_001002919.3(ALKAL2):c.52G>A (p.Ala18Thr)	ALKAL2 (A18T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482333	NM_001002919.3(ALKAL2):c.25C>T (p.Leu9Phe)	ALKAL2 (L9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685847	GRCh37/hg19 2p25.3(chr2:210212-1048484)x3	ACP1, ALKAL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684398	GRCh37/hg19 2p25.3(chr2:12771-1030521)x1	ACP1, ALKAL2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2671972	GRCh37/hg19 2p25.3(chr2:12770-2832894)x1	ACP1, ALKAL2 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 1808728	GRCh37/hg19 2p25.3(chr2:12771-1947832)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340648	GRCh37/hg19 2p25.3(chr2:193991-656312)x3	ACP1, ALKAL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330210	GRCh37/hg19 2p25.3(chr2:10501-2386917)x1	PXDN, ACP1 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 980460	GRCh37/hg19 2p25.3(chr2:12770-1126253)x1	SH3YL1, SNTG2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 980459	GRCh37/hg19 2p25.3(chr2:12770-1680334)x1	FAM110C, ALKAL2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 814207	GRCh37/hg19 2p25.3(chr2:275774-397593)x1	ALKAL2, ACP1	Copy number loss	not provided	GLikely benign
Select item 814206	GRCh37/hg19 2p25.3(chr2:12770-3000954)x1	ALKAL2, MYT1L +7 more	Copy number loss	not provided	GPathogenic
Select item 688279	GRCh37/hg19 2p25.3(chr2:12770-2348876)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 686549	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686548	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686201	GRCh37/hg19 2p25.3(chr2:12770-3819558)x3	ACP1, ADI1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 686001	GRCh37/hg19 2p25.3(chr2:12770-2832894)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 562667	GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3	ACP1, ADI1 +15 more	Copy number gain	not provided	GPathogenic
Select item 562588	GRCh37/hg19 2p25.3(chr2:192760-659746)x3	SH3YL1, ACP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562582	GRCh37/hg19 2p25.3(chr2:12770-422089)x3	ALKAL2, SH3YL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562576	GRCh37/hg19 2p25.3(chr2:12770-373340)x3	FAM110C, ACP1 +2 more	Copy number gain	not provided	GLikely benign
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442335	GRCh37/hg19 2p25.3(chr2:160274-1293314)x3	ACP1, ALKAL2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441892	GRCh37/hg19 2p25.3(chr2:99287-314375)x1	ACP1, ALKAL2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 394520	GRCh37/hg19 2p25.3(chr2:247589-1453153)x1	ACP1, ALKAL2 +4 more	Copy number loss	See cases	GLikely benign

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Items: 62