SH3YL1[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	SNTG2-AS1, TMEM18 +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 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +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	ABHD1, ACP1 +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	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 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	LOC126806094, LOC126806095 +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 148720	GRCh38/hg38 2p25.3(chr2:17019-1029157)x1	LINC01874, ACP1 +35 more	Copy number loss	See cases	GUncertain significance
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +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	ACP1, ALKAL2 +18 more	Copy number gain	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 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	C2orf48, C2orf50 +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	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152521	GRCh38/hg38 2p25.3(chr2:84669-229081)x1	LOC126806091, LOC126806092 +1 more	Copy number loss	See cases	GLikely benign
Select item 154817	GRCh38/hg38 2p25.3(chr2:131730-2713517)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 144145	GRCh38/hg38 2p25.3(chr2:153031-252990)x3	LOC126806091, LOC126806092 +2 more	Copy number gain	See cases	GBenign
Select item 151394	GRCh38/hg38 2p25.3(chr2:186745-255735)x1	LOC126806092, LOC129388814 +2 more	Copy number loss	See cases	GLikely benign
Select item 2555702	NM_015677.4(SH3YL1):c.952T>C (p.Ser318Pro)	SH3YL1 (S299P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270485	NM_015677.4(SH3YL1):c.938T>C (p.Ile313Thr)	SH3YL1 (I294T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203788	NM_015677.4(SH3YL1):c.869C>T (p.Ala290Val)	SH3YL1 (A290V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486346	NM_015677.4(SH3YL1):c.858A>G (p.Ile286Met)	SH3YL1 (I171M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161505	NM_015677.4(SH3YL1):c.856A>G (p.Ile286Val)	SH3YL1 (I286V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161504	NM_015677.4(SH3YL1):c.736C>T (p.Pro246Ser)	SH3YL1 (P246S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363174	NM_015677.4(SH3YL1):c.659G>A (p.Arg220Gln)	SH3YL1 (R220Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357831	NM_015677.4(SH3YL1):c.610T>C (p.Tyr204His)	SH3YL1 (Y108H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283223	NM_015677.4(SH3YL1):c.601G>A (p.Glu201Lys)	SH3YL1 (E201K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403679	NM_015677.4(SH3YL1):c.598G>A (p.Ala200Thr)	SH3YL1 (A200T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282194	NM_015677.4(SH3YL1):c.589C>A (p.Pro197Thr)	SH3YL1 (P197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161501	NM_015677.4(SH3YL1):c.587G>A (p.Arg196Gln)	SH3YL1 (R196Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548965	NM_015677.4(SH3YL1):c.586C>T (p.Arg196Trp)	SH3YL1 (R100W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161500	NM_015677.4(SH3YL1):c.581C>T (p.Thr194Ile)	SH3YL1 (T98I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161499	NM_015677.4(SH3YL1):c.564C>A (p.Asp188Glu)	SH3YL1 (D92E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345387	NM_015677.4(SH3YL1):c.452C>T (p.Thr151Met)	SH3YL1 (T55M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539287	NM_015677.4(SH3YL1):c.451A>C (p.Thr151Pro)	SH3YL1 (T151P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161498	NM_015677.4(SH3YL1):c.421G>T (p.Val141Leu)	SH3YL1 (V45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161496	NM_015677.4(SH3YL1):c.419A>C (p.Asn140Thr)	SH3YL1 (N44T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622889	NM_015677.4(SH3YL1):c.405G>T (p.Arg135Ser)	SH3YL1 (R135S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161495	NM_015677.4(SH3YL1):c.367G>A (p.Gly123Arg)	SH3YL1 (G123R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492619	NM_015677.4(SH3YL1):c.325C>T (p.Arg109Cys)	SH3YL1 (R13C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 2360942	NM_015677.4(SH3YL1):c.228A>C (p.Lys76Asn)	SH3YL1 (K76N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588938	NM_015677.4(SH3YL1):c.209C>T (p.Ala70Val)	SH3YL1 (A70V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161494	NM_015677.4(SH3YL1):c.118G>A (p.Val40Ile)	SH3YL1 (V40I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463340	NM_015677.4(SH3YL1):c.104T>A (p.Ile35Asn)	SH3YL1 (I35N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161502	NM_015677.4(SH3YL1):c.5A>G (p.Asn2Ser)	SH3YL1 (N2S)	Single nucleotide variant (missense variant +2 more)	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 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 979985	GRCh37/hg19 2p25.3(chr2:210211-262993)x1	SH3YL1	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 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 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
Select item 252978	GRCh37/hg19 2p25.3(chr2:14238-226999)x3	FAM110C, SH3YL1	Copy number gain	See cases	GUncertain significance

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Items: 91