ClinVar for Gene (Select 23293) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320948	NM_017575.5(SMG6):c.2736C>G (p.Phe912Leu)	SMG6 (F912L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320947	NM_017575.5(SMG6):c.202C>G (p.Pro68Ala)	SMG6 (P68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320946	NM_017575.5(SMG6):c.1146G>C (p.Leu382Phe)	SMG6 (L382F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320945	NM_017575.5(SMG6):c.3560T>C (p.Phe1187Ser)	SMG6 (F1187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320944	NM_017575.5(SMG6):c.10G>A (p.Gly4Arg)	SMG6, SRR (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320943	NM_017575.5(SMG6):c.2864T>C (p.Leu955Pro)	SMG6 (L47P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320942	NM_017575.5(SMG6):c.2934G>A (p.Met978Ile)	SMG6 (M978I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320941	NM_017575.5(SMG6):c.3850G>A (p.Asp1284Asn)	SMG6 (D195N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320940	NM_017575.5(SMG6):c.668G>A (p.Gly223Glu)	SMG6 (G223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320938	NM_017575.5(SMG6):c.3898G>A (p.Ala1300Thr)	SMG6 (A392T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320937	NM_017575.5(SMG6):c.4132G>A (p.Glu1378Lys)	HIC1, SMG6 (E289K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320936	NM_017575.5(SMG6):c.3695A>G (p.Asp1232Gly)	SMG6 (D324G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320935	NM_017575.5(SMG6):c.1829A>G (p.Glu610Gly)	SMG6 (E610G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320934	NM_017575.5(SMG6):c.608G>T (p.Ser203Ile)	SMG6 (S203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320933	NM_017575.5(SMG6):c.1282G>A (p.Ala428Thr)	SMG6 (A428T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320932	NM_017575.5(SMG6):c.3530A>T (p.Asp1177Val)	SMG6 (D1177V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3166526	NM_017575.5(SMG6):c.902C>T (p.Thr301Ile)	SMG6 (T301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166525	NM_017575.5(SMG6):c.644A>G (p.Glu215Gly)	SMG6 (E215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166524	NM_017575.5(SMG6):c.575C>G (p.Ala192Gly)	SMG6 (A192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166523	NM_017575.5(SMG6):c.4241C>T (p.Thr1414Met)	HIC1, SMG6 (T325M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166522	NM_017575.5(SMG6):c.4231G>C (p.Ala1411Pro)	HIC1, SMG6 (A503P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166521	NM_017575.5(SMG6):c.4220G>A (p.Arg1407Gln)	HIC1, SMG6 (R1407Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166519	NM_017575.5(SMG6):c.4040G>A (p.Gly1347Asp)	SMG6 (G1347D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166518	NM_017575.5(SMG6):c.3923G>A (p.Arg1308His)	SMG6 (R1308H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166517	NM_017575.5(SMG6):c.3873G>C (p.Glu1291Asp)	SMG6 (E1291D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166516	NM_017575.5(SMG6):c.3853G>A (p.Gly1285Ser)	SMG6 (G1285S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166515	NM_017575.5(SMG6):c.3686T>C (p.Val1229Ala)	SMG6 (V321A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166514	NM_017575.5(SMG6):c.3657G>T (p.Gln1219His)	SMG6 (Q1219H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166513	NM_017575.5(SMG6):c.3488T>C (p.Met1163Thr)	SMG6 (M1163T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166512	NM_017575.5(SMG6):c.3269T>C (p.Ile1090Thr)	SMG6 (I1090T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166511	NM_017575.5(SMG6):c.3121A>T (p.Asn1041Tyr)	SMG6 (N1041Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166510	NM_017575.5(SMG6):c.3038C>T (p.Ser1013Phe)	SMG6 (S1013F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166509	NM_017575.5(SMG6):c.3025G>A (p.Asp1009Asn)	SMG6 (D101N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166508	NM_017575.5(SMG6):c.2890C>T (p.Arg964Cys)	SMG6 (R964C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166507	NM_017575.5(SMG6):c.2531G>A (p.Arg844Gln)	SMG6 (R844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166506	NM_017575.5(SMG6):c.2474A>G (p.His825Arg)	SMG6 (H825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166504	NM_017575.5(SMG6):c.2064G>C (p.Leu688Phe)	SMG6 (L688F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166503	NM_017575.5(SMG6):c.2020C>A (p.Leu674Ile)	SMG6 (L674I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166501	NM_017575.5(SMG6):c.1534C>T (p.Arg512Trp)	SMG6 (R512W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166500	NM_017575.5(SMG6):c.1419G>T (p.Gln473His)	SMG6 (Q473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166499	NM_017575.5(SMG6):c.1397C>G (p.Ala466Gly)	SMG6 (A466G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166498	NM_017575.5(SMG6):c.1275A>G (p.Pro425=)	SMG6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3166496	NM_017575.5(SMG6):c.1216C>G (p.Arg406Gly)	SMG6 (R406G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166495	NM_017575.5(SMG6):c.1139A>G (p.Lys380Arg)	SMG6 (K380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166494	NM_017575.5(SMG6):c.1051C>T (p.Arg351Cys)	SMG6 (R351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166493	NM_017575.5(SMG6):c.1048C>G (p.Leu350Val)	SMG6 (L350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
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 2647217	NM_017575.5(SMG6):c.585A>G (p.Pro195=)	SMG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647216	NM_017575.5(SMG6):c.693C>T (p.Asp231=)	SMG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621319	NM_017575.5(SMG6):c.122G>A (p.Arg41His)	SMG6 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616147	NM_017575.5(SMG6):c.47G>A (p.Arg16His)	SMG6, SRR (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610324	NM_017575.5(SMG6):c.3225G>C (p.Glu1075Asp)	SMG6 (E167D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609956	NM_017575.5(SMG6):c.805G>A (p.Glu269Lys)	SMG6 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607658	NM_017575.5(SMG6):c.3788C>T (p.Ala1263Val)	SMG6 (A1263V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604219	NM_017575.5(SMG6):c.769C>T (p.Arg257Cys)	SMG6 (R257C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603768	NM_017575.5(SMG6):c.1580C>T (p.Pro527Leu)	SMG6 (P527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603693	NM_017575.5(SMG6):c.1255G>T (p.Val419Phe)	SMG6 (V419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600872	NM_017575.5(SMG6):c.2816T>C (p.Met939Thr)	SMG6 (M31T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592601	NM_017575.5(SMG6):c.4120G>A (p.Ala1374Thr)	SMG6 (A466T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591950	NM_017575.5(SMG6):c.1123A>G (p.Arg375Gly)	SMG6 (R375G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2563099	NM_017575.5(SMG6):c.835C>T (p.Arg279Cys)	SMG6 (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559040	NM_017575.5(SMG6):c.3610G>C (p.Glu1204Gln)	SMG6 (E115Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558705	NM_017575.5(SMG6):c.2591C>T (p.Ser864Phe)	SMG6 (S864F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556110	NM_017575.5(SMG6):c.3961C>T (p.Arg1321Trp)	SMG6 (R1321W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545539	NM_017575.5(SMG6):c.1259A>G (p.Asn420Ser)	SMG6 (N420S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545150	NM_017575.5(SMG6):c.3352G>A (p.Asp1118Asn)	SMG6 (D1118N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527798	NM_017575.5(SMG6):c.1609G>T (p.Gly537Cys)	SMG6 (G537C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522019	NM_017575.5(SMG6):c.3067C>T (p.Leu1023Phe)	SMG6 (L115F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515991	NM_017575.5(SMG6):c.698C>T (p.Pro233Leu)	SMG6 (P233L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2494290	NM_017575.5(SMG6):c.2110A>G (p.Met704Val)	SMG6 (M704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488245	NM_017575.5(SMG6):c.296A>G (p.Lys99Arg)	SMG6 (K99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487974	NM_017575.5(SMG6):c.1836G>T (p.Met612Ile)	SMG6 (M612I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479368	NM_017575.5(SMG6):c.1040G>A (p.Arg347Gln)	SMG6 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471443	NM_017575.5(SMG6):c.481A>G (p.Ser161Gly)	SMG6 (S161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457538	NM_017575.5(SMG6):c.401T>C (p.Ile134Thr)	SMG6 (I134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457194	NM_017575.5(SMG6):c.4015G>A (p.Ala1339Thr)	SMG6 (A250T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456173	NM_017575.5(SMG6):c.4127A>G (p.Lys1376Arg)	SMG6 (K468R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2411838	NM_017575.5(SMG6):c.335C>T (p.Pro112Leu)	SMG6 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410837	NM_017575.5(SMG6):c.1874G>A (p.Arg625His)	SMG6 (R625H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410696	NM_017575.5(SMG6):c.560C>T (p.Ala187Val)	SMG6 (A187V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397931	NM_017575.5(SMG6):c.3245C>T (p.Pro1082Leu)	SMG6 (P174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393990	NM_017575.5(SMG6):c.737G>A (p.Arg246His)	SMG6 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380102	NM_017575.5(SMG6):c.64C>G (p.Leu22Val)	SMG6, SRR (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362886	NM_017575.5(SMG6):c.3581A>G (p.Glu1194Gly)	SMG6 (E1194G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362253	NM_017575.5(SMG6):c.706G>A (p.Gly236Arg)	SMG6 (G236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349227	NM_017575.5(SMG6):c.3842A>G (p.Asn1281Ser)	SMG6 (N1281S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344722	NM_017575.5(SMG6):c.2984A>G (p.Lys995Arg)	SMG6 (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337101	NM_017575.5(SMG6):c.2813G>A (p.Arg938His)	SMG6 (R30H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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