ClinVar for Gene (Select 129787) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242306	GRCh37/hg19 2p25.3(chr2:11314-3033976)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 3179007	NM_152834.4(TMEM18):c.86T>A (p.Met29Lys)	TMEM18 (M32K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2685847	GRCh37/hg19 2p25.3(chr2:210212-1048484)x3	ACP1, ALKAL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685032	GRCh37/hg19 2p25.3(chr2:663174-1352586)x4	SNTG2, TMEM18	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 2400369	NM_152834.4(TMEM18):c.215C>T (p.Ala72Val)	TMEM18 (A59V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388589	NM_152834.4(TMEM18):c.259G>A (p.Asp87Asn)	TMEM18 (D90N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361378	NM_152834.4(TMEM18):c.337G>A (p.Val113Ile)	TMEM18 (V100I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309384	NM_152834.4(TMEM18):c.209A>G (p.Asn70Ser)	TMEM18 (N70S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268214	NM_152834.4(TMEM18):c.4C>G (p.Pro2Ala)	TMEM18 (P2A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 1527737	GRCh37/hg19 2p25.3(chr2:637829-1945590)	MYT1L, PXDN +3 more	Copy number loss	not specified	GPathogenic
Select item 1527726	GRCh37/hg19 2p25.3(chr2:528352-2564992)	MYT1L, PXDN +3 more	Copy number loss	not specified	GPathogenic
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 814206	GRCh37/hg19 2p25.3(chr2:12770-3000954)x1	ALKAL2, MYT1L +7 more	Copy number loss	not provided	GPathogenic
Select item 723817	NM_152834.4(TMEM18):c.179-6T>C	TMEM18	Single nucleotide variant (intron variant)	not provided	GBenign
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 562619	GRCh37/hg19 2p25.3(chr2:618762-1565658)x1	TPO, SNTG2 +1 more	Copy number loss	not provided	GUncertain significance
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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442458	GRCh37/hg19 2p25.3(chr2:325882-1025239)x3	SNTG2, TMEM18	Copy number gain	See cases	GUncertain significance
Select item 442335	GRCh37/hg19 2p25.3(chr2:160274-1293314)x3	ACP1, ALKAL2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394615	GRCh37/hg19 2p25.3(chr2:386460-978269)x3	SNTG2, TMEM18	Copy number gain	See cases	GLikely benign
Select item 394520	GRCh37/hg19 2p25.3(chr2:247589-1453153)x1	ACP1, ALKAL2 +4 more	Copy number loss	See cases	GLikely benign
Select item 394319	GRCh37/hg19 2p25.3(chr2:386460-768496)x3	TMEM18	Copy number gain	See cases	GLikely benign
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	ACP1, ADI1 +104 more	Copy number gain	See cases	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 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 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +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 153456	GRCh38/hg38 2p25.3(chr2:330108-1021300)x3	LINC01115, LINC01865 +21 more	Copy number gain	See cases	GUncertain significance
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 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 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	ACP1, ADAM17 +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 152339	GRCh38/hg38 2p25.3(chr2:12770-2310816)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 150293	GRCh38/hg38 2p25.3(chr2:24400-817581)x3	ACP1, ALKAL2 +28 more	Copy number gain	See cases	GPathogenic
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	LOC129933186, LOC129933187 +736 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 147852	GRCh38/hg38 2p25.3(chr2:330817-943088)x3	LINC01115, LINC01865 +18 more	Copy number gain	See cases	GBenign
Select item 147583	GRCh38/hg38 2p25.3(chr2:39193-1542734)x1	ACP1, ALKAL2 +41 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 146176	GRCh38/hg38 2p25.3(chr2:622175-1110952)x3	LINC01115, LINC01939 +11 more	Copy number gain	See cases	GBenign
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 145782	GRCh38/hg38 2p25.3(chr2:383231-721431)x3	LINC01874, LINC01875 +11 more	Copy number gain	See cases	GBenign
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 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 67