C0086649[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 910428	NM_152419.3(HGSNAT):c.-3G>C	HGSNAT, LOC130000316	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363136	NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)	HGSNAT, LOC130000316 (R6K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 910429	NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GBenign
Select item 363137	NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 363138	NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 363139	NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)	HGSNAT (V69I)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +4 more	GConflicting classifications of pathogenicity
Select item 363140	NM_152419.3(HGSNAT):c.234+14C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 911653	NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)	HGSNAT (S90G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363141	NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)	HGSNAT (A93S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 363142	NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 363143	NM_152419.3(HGSNAT):c.371+15T>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 911654	NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)	HGSNAT (P165S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 911655	NM_152419.3(HGSNAT):c.563+3A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 911656	NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 911657	NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)	HGSNAT (T230A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 785726	NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)	HGSNAT (T230M)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +3 more	GBenign/Likely benign
Select item 908707	NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)	HGSNAT (P237L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 726902	NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GConflicting classifications of pathogenicity
Select item 748962	NM_152419.3(HGSNAT):c.851+10C>T	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 363144	NM_152419.3(HGSNAT):c.906A>T (p.Gln302His)	HGSNAT (Q302H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908708	NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)	HGSNAT (R15W +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 363145	NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GConflicting classifications of pathogenicity
Select item 363146	NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 909561	NM_152419.3(HGSNAT):c.1128+3G>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 909562	NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)	HGSNAT (S382C +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 909563	NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)	HGSNAT (P103L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363147	NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)	HGSNAT (P413S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +4 more	GConflicting classifications of pathogenicity
Select item 96500	NM_152419.3(HGSNAT):c.1250+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 73 +4 more	GPathogenic/Likely pathogenic
Select item 363148	NM_152419.3(HGSNAT):c.1250+7G>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GBenign/Likely benign
Select item 363149	NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +3 more	GBenign/Likely benign
Select item 802403	NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)	HGSNAT (N433D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 1231	NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)	HGSNAT (D161fs +2 more)	Duplication (frameshift variant)	Retinitis pigmentosa 73 +1 more	GConflicting classifications of pathogenicity
Select item 909564	NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 746756	NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)	HGSNAT (R499W +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 363150	NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)	HGSNAT (K523Q +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +3 more	GBenign/Likely benign
Select item 910489	NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)	HGSNAT (V499M +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 363151	NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)	HGSNAT (V563G +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 363152	NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)	HGSNAT (G565R +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +3 more	GBenign/Likely benign
Select item 496837	NM_152419.3(HGSNAT):c.1727-9C>G	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +2 more	GBenign
Select item 96503	NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +3 more	GBenign
Select item 910490	NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)	HGSNAT (I613V +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 167178	NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)	HGSNAT (V614I +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +3 more	GBenign
Select item 208816	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT (A615T +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +6 more	GConflicting classifications of pathogenicity
Select item 420117	NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)	HGSNAT (Y627C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 911721	NM_152419.3(HGSNAT):c.*106G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GLikely benign
Select item 363153	NM_152419.3(HGSNAT):c.*149G>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363154	NM_152419.3(HGSNAT):c.*160C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363155	NM_152419.3(HGSNAT):c.*196T>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363156	NM_152419.3(HGSNAT):c.*304C>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363157	NM_152419.3(HGSNAT):c.*390G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908762	NM_152419.3(HGSNAT):c.*477G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 908763	NM_152419.3(HGSNAT):c.*574C>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908764	NM_152419.3(HGSNAT):c.*581T>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363158	NM_152419.3(HGSNAT):c.*585T>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 908765	NM_152419.3(HGSNAT):c.*600C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 908766	NM_152419.3(HGSNAT):c.*612A>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908767	NM_152419.3(HGSNAT):c.*619T>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908768	NM_152419.3(HGSNAT):c.*649A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909620	NM_152419.3(HGSNAT):c.*733G>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 909621	NM_152419.3(HGSNAT):c.*772C>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909622	NM_152419.3(HGSNAT):c.*778T>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909623	NM_152419.3(HGSNAT):c.*817C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GLikely benign
Select item 909624	NM_152419.3(HGSNAT):c.*851A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909625	NM_152419.3(HGSNAT):c.*857C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909626	NM_152419.3(HGSNAT):c.*871C>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909627	NM_152419.3(HGSNAT):c.*1026G>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363159	NM_152419.3(HGSNAT):c.*1034G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363160	NM_152419.3(HGSNAT):c.*1064A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 910551	NM_152419.3(HGSNAT):c.*1086G>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 910552	NM_152419.3(HGSNAT):c.*1112C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363162	NM_152419.3(HGSNAT):c.*1137C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363163	NM_152419.3(HGSNAT):c.*1204C>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363164	NM_152419.3(HGSNAT):c.*1212C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 910553	NM_152419.3(HGSNAT):c.*1214C>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363165	NM_152419.3(HGSNAT):c.*1215C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363166	NM_152419.3(HGSNAT):c.*1216G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 911792	NM_152419.3(HGSNAT):c.*1219G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363167	NM_152419.3(HGSNAT):c.*1231G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 363168	NM_152419.3(HGSNAT):c.*1251C>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363169	NM_152419.3(HGSNAT):c.*1331T>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363170	NM_152419.3(HGSNAT):c.*1378C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363171	NM_152419.3(HGSNAT):c.*1436A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908828	NM_152419.3(HGSNAT):c.*1584A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 908829	NM_152419.3(HGSNAT):c.*1696T>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363172	NM_152419.3(HGSNAT):c.*1750C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363173	NM_152419.3(HGSNAT):c.*1780C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 363174	NM_152419.3(HGSNAT):c.*1801T>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 363175	NM_152419.3(HGSNAT):c.*1841G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363176	NM_152419.3(HGSNAT):c.*1854C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909683	NM_152419.3(HGSNAT):c.*1925A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 909684	NM_152419.3(HGSNAT):c.*1942A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GBenign
Select item 363177	NM_152419.3(HGSNAT):c.*2068A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363178	NM_152419.3(HGSNAT):c.*2233G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363179	NM_152419.3(HGSNAT):c.*2258A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GLikely benign
Select item 363180	NM_152419.3(HGSNAT):c.*2266G>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363181	NM_152419.3(HGSNAT):c.*2305A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363182	NM_152419.3(HGSNAT):c.*2341G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 910608	NM_152419.3(HGSNAT):c.*2434G>A	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 910609	NM_152419.3(HGSNAT):c.*2472G>C	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363183	NM_152419.3(HGSNAT):c.*2502A>G	HGSNAT	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance

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