C0086651[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256330	NM_000512.5(GALNS):c.*36G>A	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign
Select item 321187	NM_000512.5(GALNS):c.*3C>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 93171	NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	GALNS (W520* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 93170	NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)	GALNS (W520R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93169	NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)	GALNS (C507F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 803279	NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	GALNS (P498L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 265170	NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)	GALNS (N495K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 1048338	NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)	GALNS (N310Y +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 256332	NM_000512.5(GALNS):c.1483-32G>C	GALNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 856722	NM_000512.5(GALNS):c.1482+4A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 1048245	NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	GALNS, LOC126862447 (M309V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 800974	NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	LOC126862447, GALNS (A492T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 194178	NM_000512.5(GALNS):c.1462G>A (p.Val488Met)	GALNS, LOC126862447 (V488M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 321188	NM_000512.5(GALNS):c.1443C>T (p.Pro481=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign/Likely benign
Select item 284192	NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	GALNS, LOC126862447 (V480F +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 93168	NM_000512.5(GALNS):c.1431G>A (p.Glu477=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93167	NM_000512.5(GALNS):c.1413C>T (p.Val471=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 321189	NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)	GALNS, LOC126862447 (A459V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 645753	NM_000512.5(GALNS):c.1364+1G>A	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 93166	NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)	GALNS (F452I +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 321190	NM_000512.5(GALNS):c.1278G>T (p.Gly426=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GBenign
Select item 321191	NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)	GALNS (I416T +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1048350	NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	GALNS (Q229* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 634437	NM_000512.5(GALNS):c.1219A>C (p.Asn407His)	GALNS (N407H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 849188	NM_000512.5(GALNS):c.1192del (p.His398fs)	GALNS (H213fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 321194	NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)	GALNS (G396R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93165	NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)	GALNS (A393S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 93163	NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	GALNS (A392V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 93162	NM_000512.5(GALNS):c.1171A>G (p.Met391Val)	GALNS (M391V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 528322	NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)	GALNS (D388E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 700	NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	GALNS (R386C +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +2 more	GConflicting classifications of pathogenicity
Select item 938197	NM_000512.5(GALNS):c.1139+1G>A	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 193597	NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)	GALNS (R376Q +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 884853	NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)	GALNS (P370S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 321195	NM_000512.5(GALNS):c.1071G>A (p.Pro357=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 884856	NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)	GALNS (P172L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 18403	NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	GALNS (G340D +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1048435	NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)	GALNS (Q153* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 256331	NM_000512.5(GALNS):c.1003-42C>T	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 93161	NM_000512.5(GALNS):c.1002+17C>T	GALNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 619963	NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)	GALNS (Q334* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1045364	NM_000512.5(GALNS):c.986A>C (p.His329Pro)	GALNS (H144P +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 645751	NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)	GALNS (A328P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 199031	NM_000512.5(GALNS):c.953T>G (p.Met318Arg)	GALNS (M318R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GPathogenic
Select item 1048309	NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)	GALNS (G132R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 713	NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	GALNS (T312S +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 566518	NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)	GALNS (K310N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321199	NM_000512.5(GALNS):c.921G>T (p.Leu307=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048216	NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)	GALNS (L122P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048212	NM_000512.5(GALNS):c.916T>G (p.Phe306Val)	GALNS (F121V +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +2 more	GConflicting classifications of pathogenicity
Select item 373413	NM_000512.5(GALNS):c.911G>T (p.Gly304Val)	GALNS (G304V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 623363	NM_000512.5(GALNS):c.909C>G (p.Asn303Lys)	GALNS (N303K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 708	NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)	GALNS (G301C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 558877	NM_000512.5(GALNS):c.899-4C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GBenign
Select item 256339	NM_000512.5(GALNS):c.898+42G>C	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256338	NM_000512.5(GALNS):c.898+25C>G	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 528323	NM_000512.5(GALNS):c.898+1G>A	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 520617	NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)	GALNS (S295F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 379921	NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)	GALNS (A291S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 707	NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	GALNS (A291T +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 265169	NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	GALNS (S287L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GPathogenic/Likely pathogenic
Select item 256337	NM_000512.5(GALNS):c.858G>A (p.Thr286=)	GALNS	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 633230	NM_000512.5(GALNS):c.857C>T (p.Thr286Met)	GALNS (T286M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 321200	NM_000512.5(GALNS):c.850T>G (p.Phe284Val)	GALNS (F284V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93187	NM_000512.5(GALNS):c.846C>T (p.Phe282=)	GALNS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 288253	NM_000512.5(GALNS):c.775C>A (p.Arg259=)	GALNS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 741344	NM_000512.5(GALNS):c.771C>T (p.Ala257=)	GALNS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256336	NM_000512.5(GALNS):c.758+22C>T	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1002003	NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)	GALNS (R253W +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048209	NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)	GALNS (R251* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 198426	NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)	GALNS (G247D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 256335	NM_000512.5(GALNS):c.723C>T (p.Ala241=)	GALNS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1048206	NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)	GALNS (Y240C +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 93186	NM_000512.5(GALNS):c.708C>T (p.His236=)	GALNS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93185	NM_000512.5(GALNS):c.707A>G (p.His236Arg)	GALNS (H236R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1020100	NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)	GALNS (A234T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048200	NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)	GALNS (D233N +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 93183	NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)	GALNS (A231G +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 711	NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)	GALNS (W230* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic
Select item 198427	NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)	GALNS (R222Q +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 658160	NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)	GALNS (R222W +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048469	NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	GALNS (F216S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 569811	NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)	GALNS (L214P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 93181	NM_000512.5(GALNS):c.634-19G>A	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 93182	NM_000512.5(GALNS):c.634-20C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 1048416	NM_000512.5(GALNS):c.604del (p.Glu202fs)	GALNS (E17fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1021451	NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	GALNS (G16E +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 198087	NM_000512.5(GALNS):c.599C>T (p.Thr200Met)	GALNS (T200M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 1048411	NM_000512.5(GALNS):c.567-3C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 321202	NM_000512.5(GALNS):c.566+10C>T	GALNS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 321203	NM_000512.5(GALNS):c.566+5T>C	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GBenign
Select item 192298	NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)	GALNS (Y181C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 93180	NM_000512.5(GALNS):c.510T>C (p.Tyr170=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 528319	NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)	GALNS (G168R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 321204	NM_000512.5(GALNS):c.499T>G (p.Phe167Val)	GALNS (F167V +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 973574	NM_000512.5(GALNS):c.498C>G (p.His166Gln)	GALNS (H172Q +1 more)	Single nucleotide variant (missense variant +1 more)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 633232	NM_000512.5(GALNS):c.498del (p.Phe167fs)	GALNS (F167fs +1 more)	Deletion (frameshift variant +1 more)	Morquio syndrome +2 more	GPathogenic
Select item 803280	NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	GALNS (N164T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 643109	NM_000512.5(GALNS):c.489del (p.Asn164fs)	GALNS (N164fs +1 more)	Deletion (frameshift variant +1 more)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 709	NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)	GALNS (S162F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic

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