ClinVar for Gene (Select 221823) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219237	NM_175886.3(PRPS1L1):c.87G>C (p.Lys29Asn)	PRPS1L1 (K29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219236	NM_175886.3(PRPS1L1):c.851G>T (p.Cys284Phe)	PRPS1L1 (C284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219235	NM_175886.3(PRPS1L1):c.850T>A (p.Cys284Ser)	PRPS1L1 (C284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219234	NM_175886.3(PRPS1L1):c.755T>G (p.Ile252Ser)	PRPS1L1 (I252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219233	NM_175886.3(PRPS1L1):c.694G>A (p.Ala232Thr)	PRPS1L1 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219232	NM_175886.3(PRPS1L1):c.65G>T (p.Arg22Leu)	PRPS1L1 (R22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219231	NM_175886.3(PRPS1L1):c.589A>G (p.Lys197Glu)	PRPS1L1 (K197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219230	NM_175886.3(PRPS1L1):c.433T>G (p.Leu145Val)	PRPS1L1 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2664509	GRCh37/hg19 7p21.1(chr7:17930686-19059254)x1	HDAC9, PRPS1L1 +1 more	Copy number loss	Syndromic craniosynostosis	GLikely pathogenic
Select item 2525639	NM_175886.3(PRPS1L1):c.658G>C (p.Asp220His)	PRPS1L1 (D220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474823	NM_175886.3(PRPS1L1):c.371T>C (p.Ile124Thr)	PRPS1L1 (I124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468329	NM_175886.3(PRPS1L1):c.902G>A (p.Arg301Lys)	PRPS1L1 (R301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410171	NM_175886.3(PRPS1L1):c.701A>C (p.Asp234Ala)	PRPS1L1 (D234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376528	NM_175886.3(PRPS1L1):c.133G>A (p.Asp45Asn)	PRPS1L1 (D45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362339	NM_175886.3(PRPS1L1):c.869T>C (p.Ile290Thr)	PRPS1L1 (I290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351734	NM_175886.3(PRPS1L1):c.163A>G (p.Ile55Val)	PRPS1L1 (I55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336764	NM_175886.3(PRPS1L1):c.444G>C (p.Glu148Asp)	PRPS1L1 (E148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326831	NM_175886.3(PRPS1L1):c.539C>G (p.Ser180Cys)	PRPS1L1 (S180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309370	NM_175886.3(PRPS1L1):c.836A>G (p.Glu279Gly)	PRPS1L1 (E279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236630	NM_175886.3(PRPS1L1):c.384C>G (p.Asp128Glu)	PRPS1L1 (D128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229271	NM_175886.3(PRPS1L1):c.524C>A (p.Ala175Asp)	PRPS1L1 (A175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225715	NM_175886.3(PRPS1L1):c.352A>C (p.Ile118Leu)	PRPS1L1 (I118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222544	NM_175886.3(PRPS1L1):c.379A>G (p.Met127Val)	PRPS1L1 (M127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 980247	GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1	SOSTDC1, AGR2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979766	GRCh37/hg19 7p21.1(chr7:17865965-18361645)x3	PRPS1L1, SNX13 +1 more	Copy number gain	not provided	GLikely benign
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
Select item 687515	GRCh37/hg19 7p21.1(chr7:17151747-18869529)x3	AHR, HDAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563393	GRCh37/hg19 7p21.1(chr7:17008842-18304130)x3	HDAC9, SNX13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443707	GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	AGMO, AGR2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 441665	GRCh37/hg19 7p21.1(chr7:17099056-18220736)x3	AHR, HDAC9 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 152081	GRCh38/hg38 7p21.1(chr7:17847049-18321295)x3	HDAC9, LOC111591502 +8 more	Copy number gain	See cases	GBenign
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 58533	GRCh38/hg38 7p21.1(chr7:17930595-18209019)x1	HDAC9, LOC111591502 +8 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66