ClinVar for Gene (Select 642273) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277082	NM_001077710.3(FAM110C):c.238C>T (p.Arg80Cys)	FAM110C (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242306	GRCh37/hg19 2p25.3(chr2:11314-3033976)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
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 3091653	NM_001077710.3(FAM110C):c.98G>T (p.Arg33Leu)	FAM110C (R33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091652	NM_001077710.3(FAM110C):c.98G>A (p.Arg33His)	FAM110C (R33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091651	NM_001077710.3(FAM110C):c.784C>T (p.Arg262Trp)	FAM110C (R262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091649	NM_001077710.3(FAM110C):c.565C>A (p.Pro189Thr)	FAM110C (P189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091648	NM_001077710.3(FAM110C):c.550C>A (p.Pro184Thr)	FAM110C (P184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091647	NM_001077710.3(FAM110C):c.53G>C (p.Arg18Pro)	FAM110C (R18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091646	NM_001077710.3(FAM110C):c.529C>A (p.Pro177Thr)	FAM110C (P177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091645	NM_001077710.3(FAM110C):c.487G>C (p.Ala163Pro)	FAM110C (A163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091643	NM_001077710.3(FAM110C):c.381C>G (p.Phe127Leu)	FAM110C (F127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091642	NM_001077710.3(FAM110C):c.325T>G (p.Phe109Val)	FAM110C (F109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091641	NM_001077710.3(FAM110C):c.220G>T (p.Asp74Tyr)	FAM110C (D74Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091639	NM_001077710.3(FAM110C):c.151C>T (p.Arg51Trp)	FAM110C (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091638	NM_001077710.3(FAM110C):c.145C>T (p.Arg49Trp)	FAM110C (R49W)	Single nucleotide variant (missense variant)	not specified	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 2602287	NM_001077710.3(FAM110C):c.226G>T (p.Gly76Trp)	FAM110C (G76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551401	NM_001077710.3(FAM110C):c.827T>G (p.Leu276Arg)	FAM110C (L276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526157	NM_001077710.3(FAM110C):c.211C>T (p.Pro71Ser)	FAM110C (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526031	NM_001077710.3(FAM110C):c.673G>T (p.Asp225Tyr)	FAM110C (D225Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514258	NM_001077710.3(FAM110C):c.485C>A (p.Pro162His)	FAM110C (P162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509937	NM_001077710.3(FAM110C):c.245C>G (p.Pro82Arg)	FAM110C (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474265	NM_001077710.3(FAM110C):c.877A>G (p.Ile293Val)	FAM110C (I293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467593	NM_001077710.3(FAM110C):c.518G>A (p.Arg173Gln)	FAM110C (R173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381690	NM_001077710.3(FAM110C):c.542C>T (p.Pro181Leu)	FAM110C (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364756	NM_001077710.3(FAM110C):c.602A>C (p.Gln201Pro)	FAM110C (Q201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355034	NM_001077710.3(FAM110C):c.89G>A (p.Arg30Gln)	FAM110C (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354795	NM_001077710.3(FAM110C):c.187A>G (p.Ser63Gly)	FAM110C (S63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348603	NM_001077710.3(FAM110C):c.86C>T (p.Ala29Val)	FAM110C (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336602	NM_001077710.3(FAM110C):c.25G>A (p.Ala9Thr)	FAM110C (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330831	NM_001077710.3(FAM110C):c.520T>C (p.Ser174Pro)	FAM110C (S174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330535	NM_001077710.3(FAM110C):c.130C>T (p.Arg44Cys)	FAM110C (R44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315331	NM_001077710.3(FAM110C):c.28C>T (p.Pro10Ser)	FAM110C (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275538	NM_001077710.3(FAM110C):c.259C>A (p.Arg87Ser)	FAM110C (R87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262060	NM_001077710.3(FAM110C):c.523G>A (p.Ala175Thr)	FAM110C (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260448	NM_001077710.3(FAM110C):c.764C>A (p.Thr255Asn)	FAM110C (T255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259925	NM_001077710.3(FAM110C):c.13G>A (p.Ala5Thr)	FAM110C (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230477	NM_001077710.3(FAM110C):c.580C>T (p.Arg194Cys)	FAM110C (R194C)	Single nucleotide variant (missense variant)	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 1330210	GRCh37/hg19 2p25.3(chr2:10501-2386917)x1	PXDN, ACP1 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 1315514	NM_001077710.3(FAM110C):c.690G>C (p.Glu230Asp)	FAM110C (E230D)	Single nucleotide variant (missense variant)	Streaky metaphyseal sclerosis +1 more	GPathogenic
Select item 1315513	NM_001077710.3(FAM110C):c.691G>C (p.Ala231Pro)	FAM110C (A231P)	Single nucleotide variant (missense variant)	Streaky metaphyseal sclerosis +1 more	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 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 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 493578	GRCh37/hg19 2p25.3(chr2:30341-238889)x1	FAM110C, SH3YL1	Copy number loss	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)	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 252978	GRCh37/hg19 2p25.3(chr2:14238-226999)x3	FAM110C, SH3YL1	Copy number gain	See cases	GUncertain significance
Select item 160975	GRCh38/hg38 2p25.3(chr2:30341-507042)x3	ACP1, ALKAL2 +18 more	Copy number gain	See cases	GPathogenic
Select item 156776	Single allele	FAM110C	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	ACP1, ADI1 +104 more	Copy number gain	See cases	GUncertain significance
Select item 155609	GRCh38/hg38 2p25.3(chr2:12770-234590)x1	FAM110C, LOC126806091 +2 more	Copy number loss	See cases	GUncertain significance
Select item 155002	GRCh38/hg38 2p25.3(chr2:17019-283213)x3	ACP1, ALKAL2 +9 more	Copy number gain	See cases	GUncertain significance
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 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 147583	GRCh38/hg38 2p25.3(chr2:39193-1542734)x1	ACP1, ALKAL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 146864	GRCh38/hg38 2p25.3(chr2:24400-57011)x3	FAM110C	Copy number gain	See cases	GBenign
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 144222	GRCh38/hg38 2p25.3(chr2:30341-84728)x3	FAM110C	Copy number gain	See cases	GBenign
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 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

ClinVar

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Germline classification

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Links from Gene

Items: 91