UTP6[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 148639	GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1	COPRS, LOC108783653 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2241907	NM_018428.3(UTP6):c.1774C>T (p.His592Tyr)	UTP6 (H592Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241906	NM_018428.3(UTP6):c.1773G>A (p.Met591Ile)	UTP6 (M591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235340	NM_018428.3(UTP6):c.1769C>G (p.Ala590Gly)	UTP6 (A590G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486184	NM_018428.3(UTP6):c.1604G>C (p.Arg535Thr)	UTP6 (R535T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523748	NM_018428.3(UTP6):c.1598A>G (p.Tyr533Cys)	UTP6 (Y533C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540278	NM_018428.3(UTP6):c.1506G>C (p.Glu502Asp)	UTP6 (E502D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463071	NM_018428.3(UTP6):c.1444G>C (p.Asp482His)	UTP6 (D482H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218485	NM_018428.3(UTP6):c.1407A>G (p.Ile469Met)	UTP6 (I469M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209229	NM_018428.3(UTP6):c.1375G>A (p.Ala459Thr)	UTP6 (A459T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234175	NM_018428.3(UTP6):c.1251G>T (p.Lys417Asn)	UTP6 (K417N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326353	NM_018428.3(UTP6):c.1234G>T (p.Val412Leu)	UTP6 (V412L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561545	NM_018428.3(UTP6):c.1221G>C (p.Gln407His)	UTP6 (Q407H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589261	NM_018428.3(UTP6):c.1042G>C (p.Gly348Arg)	UTP6 (G348R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319840	NM_018428.3(UTP6):c.1031G>T (p.Gly344Val)	UTP6 (G344V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621549	NM_018428.3(UTP6):c.970G>A (p.Ala324Thr)	UTP6 (A324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283004	NM_018428.3(UTP6):c.911G>A (p.Arg304Gln)	UTP6 (R304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607493	NM_018428.3(UTP6):c.791A>G (p.Gln264Arg)	UTP6 (Q264R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611798	NM_018428.3(UTP6):c.736G>A (p.Ala246Thr)	UTP6 (A246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784740	NM_018428.3(UTP6):c.658G>A (p.Glu220Lys)	UTP6 (E220K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262035	NM_018428.3(UTP6):c.590A>C (p.Lys197Thr)	UTP6 (K197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372445	NM_018428.3(UTP6):c.481G>A (p.Ala161Thr)	UTP6 (A161T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268388	NM_018428.3(UTP6):c.422C>A (p.Pro141Gln)	UTP6 (P141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599729	NM_018428.3(UTP6):c.316G>A (p.Asp106Asn)	UTP6 (D106N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353487	NM_018428.3(UTP6):c.264T>G (p.Ile88Met)	UTP6 (I88M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403838	NM_018428.3(UTP6):c.221G>A (p.Arg74His)	UTP6 (R74H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788906	NM_018428.3(UTP6):c.183A>G (p.Glu61=)	UTP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2250834	NM_018428.3(UTP6):c.145C>A (p.Leu49Ile)	UTP6 (L49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784741	NM_018428.3(UTP6):c.104A>G (p.Lys35Arg)	UTP6 (K35R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777158	NM_018428.3(UTP6):c.57G>A (p.Leu19=)	UTP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2611797	NM_018428.3(UTP6):c.27A>G (p.Ile9Met)	UTP6 (I9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399444	NM_018428.3(UTP6):c.26T>C (p.Ile9Thr)	UTP6 (I9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	COPRS, LRRC37B +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 929369	GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1	COPRS, EVI2A +8 more	Copy number loss	See cases	GPathogenic
Select item 815924	GRCh37/hg19 17q11.2(chr17:29373189-30412788)x1	NF1, SUZ12 +8 more	Copy number loss	not provided	GPathogenic
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic
Select item 687019	GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685655	GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 666441	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	ADAP2, ATAD5 +12 more	Copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564426	GRCh37/hg19 17q11.2(chr17:29003358-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 564425	GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	EVI2A, CRLF3 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 443291	GRCh37/hg19 17q11.2(chr17:29103348-30298773)x1	ADAP2, ATAD5 +12 more	Copy number loss	See cases	GPathogenic
Select item 442660	GRCh37/hg19 17q11.2(chr17:28993036-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441568	GRCh37/hg19 17q11.2(chr17:28997791-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 395552	GRCh37/hg19 17q11.2(chr17:30216270-30224964)x3	UTP6	Copy number gain	See cases	GLikely benign
Select item 394485	GRCh37/hg19 17q11.2(chr17:28959760-30367155)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 394235	GRCh37/hg19 17q11.2(chr17:30131154-30594822)x1	COPRS, LRRC37B +4 more	Copy number loss	See cases	GUncertain significance
Select item 253816	GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1	RHBDL3, RHOT1 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 78