ClinVar for Gene (Select 55720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063492	GRCh37/hg19 17p13.3(chr17:2075954-2262703)x3	SGSM2, SMG6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3049475	NM_018128.5(TSR1):c.1654G>A (p.Ala552Thr)	TSR1 (A552T)	Single nucleotide variant (missense variant)	TSR1-related condition	GLikely benign
Select item 3042039	NM_018128.5(TSR1):c.2333C>T (p.Thr778Ile)	SRR, TSR1 (T778I)	Single nucleotide variant (missense variant +1 more)	TSR1-related condition	GLikely benign
Select item 3037933	NM_018128.5(TSR1):c.803TGG[1] (p.Val269del)	TSR1 (V269del)	Microsatellite (inframe deletion)	TSR1-related condition	GLikely benign
Select item 3027345	NM_018128.5(TSR1):c.1428dup (p.Gln477fs)	TSR1 (Q477fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684832	GRCh37/hg19 17p13.3(chr17:2014070-2262703)x3	SGSM2, SMG6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2616085	NM_021947.3(SRR):c.888A>C (p.Gln296His)	TSR1, SRR (Q296H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608794	NM_018128.5(TSR1):c.380C>T (p.Pro127Leu)	TSR1 (P127L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596310	NM_018128.5(TSR1):c.1911A>T (p.Lys637Asn)	TSR1 (K637N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2555377	NM_018128.5(TSR1):c.2309A>G (p.Tyr770Cys)	SRR, TSR1 (Y770C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549291	NM_018128.5(TSR1):c.2143T>G (p.Tyr715Asp)	SRR, TSR1 (Y715D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533309	NM_018128.5(TSR1):c.1321G>A (p.Glu441Lys)	TSR1 (E441K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490031	NM_018128.5(TSR1):c.16C>A (p.Pro6Thr)	TSR1 (P6T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476401	NM_018128.5(TSR1):c.1181C>T (p.Pro394Leu)	TSR1 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476246	NM_021947.3(SRR):c.670G>A (p.Gly224Arg)	SRR, TSR1 (G224R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473679	NM_018128.5(TSR1):c.1596C>G (p.Asn532Lys)	TSR1 (N532K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470559	NM_018128.5(TSR1):c.1358C>G (p.Ser453Cys)	TSR1 (S453C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468395	NM_018128.5(TSR1):c.1101G>C (p.Glu367Asp)	TSR1 (E367D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467207	NM_018128.5(TSR1):c.1127T>C (p.Leu376Pro)	TSR1 (L376P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462569	NM_021947.3(SRR):c.1010C>T (p.Ser337Phe)	SRR, TSR1 (S337F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456413	NM_018128.5(TSR1):c.363C>A (p.Asn121Lys)	TSR1 (N121K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	HIC1, GEMIN4 +37 more	Duplication	not provided	GUncertain significance
Select item 2406895	NM_018128.5(TSR1):c.572G>A (p.Gly191Glu)	TSR1 (G191E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404551	NM_018128.5(TSR1):c.1865G>A (p.Arg622His)	TSR1 (R622H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397087	NM_018128.5(TSR1):c.964C>G (p.Pro322Ala)	TSR1 (P322A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390737	NM_018128.5(TSR1):c.269T>G (p.Leu90Arg)	TSR1 (L90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385180	NM_018128.5(TSR1):c.2274G>T (p.Lys758Asn)	TSR1, SRR (K758N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370265	NM_021947.3(SRR):c.773A>G (p.Asp258Gly)	SRR, TSR1 (D109G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369629	NM_018128.5(TSR1):c.1796G>A (p.Arg599Lys)	TSR1 (R599K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360450	NM_021947.3(SRR):c.901G>A (p.Val301Ile)	TSR1, SRR (V152I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352656	NM_018128.5(TSR1):c.248A>G (p.His83Arg)	TSR1 (H83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341111	NM_018128.5(TSR1):c.1799G>A (p.Arg600His)	TSR1 (R600H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335088	NM_021947.3(SRR):c.886C>G (p.Gln296Glu)	TSR1, SRR (Q296E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325192	NM_018128.5(TSR1):c.427C>G (p.Leu143Val)	TSR1 (L143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313511	NM_018128.5(TSR1):c.2276T>G (p.Leu759Arg)	TSR1, SRR (L759R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303471	NM_018128.5(TSR1):c.806T>C (p.Val269Ala)	TSR1 (V269A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289101	NM_018128.5(TSR1):c.1955C>T (p.Ala652Val)	TSR1 (A652V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2272553	NM_018128.5(TSR1):c.1168G>A (p.Val390Ile)	TSR1 (V390I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272447	NM_021947.3(SRR):c.734G>A (p.Gly245Asp)	SRR, TSR1 (G96D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270241	NM_018128.5(TSR1):c.1474C>T (p.Arg492Cys)	TSR1 (R492C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260169	NM_018128.5(TSR1):c.703C>G (p.Gln235Glu)	TSR1 (Q235E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253669	NM_018128.5(TSR1):c.1576C>G (p.Arg526Gly)	TSR1 (R526G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236015	NM_018128.5(TSR1):c.2117T>C (p.Ile706Thr)	TSR1, SRR (I706T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235043	NM_018128.5(TSR1):c.942A>C (p.Arg314Ser)	TSR1 (R314S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226654	NM_018128.5(TSR1):c.602T>C (p.Ile201Thr)	TSR1 (I201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224743	NM_018128.5(TSR1):c.1904C>T (p.Ala635Val)	TSR1 (A635V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221146	NM_018128.5(TSR1):c.2230C>A (p.Pro744Thr)	TSR1, SRR (P744T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807811	GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1	CLUH, METTL16 +7 more	Copy number loss	not provided	GPathogenic
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 997798	NM_018128.5(TSR1):c.1061C>T (p.Ser354Phe)	TSR1 (S354F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 816556	GRCh37/hg19 17p13.3(chr17:2111786-2344649)x3	MNT, METTL16 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816555	GRCh37/hg19 17p13.3(chr17:1737911-2233965)x1	SMG6, MIR212 +8 more	Copy number loss	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 788150	NM_018128.5(TSR1):c.1710C>T (p.Val570=)	TSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781247	NM_018128.5(TSR1):c.1699G>A (p.Val567Ile)	TSR1 (V567I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768817	NM_018128.5(TSR1):c.1659+7A>G	TSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768816	NM_018128.5(TSR1):c.1756C>G (p.Pro586Ala)	TSR1 (P586A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 686828	GRCh37/hg19 17p13.3(chr17:2172709-2646895)x1	CLUH, METTL16 +6 more	Copy number loss	not provided	GPathogenic
Select item 686804	GRCh37/hg19 17p13.3(chr17:2010046-2279595)x3	SGSM2, SMG6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635877	Single allele	METTL16, MNT +4 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	SERPINF2, SGSM2 +25 more	Copy number loss	Lissencephaly +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443283	GRCh37/hg19 17p13.3(chr17:1997443-2825460)x1	CLUH, METTL16 +7 more	Copy number loss	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	DPH1, ABR +43 more	Copy number loss	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442715	GRCh37/hg19 17p13.3(chr17:2213316-2901583)x3	CLUH, METTL16 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 442222	GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	ASPA, CLUH +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	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 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394497	GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1	CLUH, DPH1 +12 more	Copy number loss	See cases	GPathogenic
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	ABR, BHLHA9 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	GEMIN4, ABR +55 more	Copy number loss	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic

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