"GeneDx"[submitter] AND "GALNS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 321156	NM_000485.3(APRT):c.*178A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign
Select item 321161	NM_000485.3(APRT):c.*47T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GLikely benign
Select item 321162	NM_000485.3(APRT):c.*3A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 321166	NM_000485.3(APRT):c.97C>T (p.Leu33=)	APRT, GALNS	Single nucleotide variant (synonymous variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 369134	NC_000016.10:g.88811949G>T	GALNS, LOC130059760 +1 more	Single nucleotide variant	Adenine phosphoribosyltransferase deficiency +2 more	GBenign/Likely benign
Select item 321176	NM_000512.5(GALNS):c.*367T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +3 more	GBenign
Select item 321177	NM_000512.5(GALNS):c.*296A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign/Likely benign
Select item 321180	NM_000512.5(GALNS):c.*236C>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 321181	NM_000512.5(GALNS):c.*224C>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign/Likely benign
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 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 1265043	NM_000512.5(GALNS):c.1482+281C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223429	NM_000512.5(GALNS):c.1482+189C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196720	NM_000512.5(GALNS):c.1482+184A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275374	NM_000512.5(GALNS):c.1482+121T>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206843	NM_000512.5(GALNS):c.1482+116G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210784	NM_000512.5(GALNS):c.1482+109C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707280	NM_000512.5(GALNS):c.1482+37G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely 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 1158060	NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)	GALNS, LOC126862447 (S285L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
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 1202126	NM_000512.5(GALNS):c.1365-81C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297859	NM_000512.5(GALNS):c.1365-129A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297858	NM_000512.5(GALNS):c.1365-243C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684054	NM_000512.5(GALNS):c.1365-277T>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684052	NM_000512.5(GALNS):c.1365-281A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684047	NM_000512.5(GALNS):c.1365-285G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228059	NM_000512.5(GALNS):c.1365-304G>A	LOC126862447, GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221104	NM_000512.5(GALNS):c.1365-310T>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210614	NM_000512.5(GALNS):c.1365-324G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152603	GRCh38/hg38 16q24.3(chr16:88818756-88836239)x1	GALNS, LOC126862447	Copy number loss	See cases	GLikely benign
Select item 1252609	NM_000512.5(GALNS):c.1364+256T>C	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198510	NM_000512.5(GALNS):c.1243-45G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186941	NM_000512.5(GALNS):c.1243-243G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230641	NM_000512.5(GALNS):c.1243-309A>G	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198241	NM_000512.5(GALNS):c.1243-324G>T	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684042	NM_000512.5(GALNS):c.1242+149G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236104	NM_000512.5(GALNS):c.1242+97G>T	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239834	NM_000512.5(GALNS):c.1242+36C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620097	NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter)	GALNS (E410* +2 more)	Single nucleotide variant (nonsense)	not provided	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 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 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 1223997	NM_000512.5(GALNS):c.1140-85C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242984	NM_000512.5(GALNS):c.1140-161C>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280110	NM_000512.5(GALNS):c.1140-163A>G	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193542	NM_000512.5(GALNS):c.1140-164_1140-163insCCCAGGCACCCCAGCCCCGGACA	GALNS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269034	NM_000512.5(GALNS):c.1140-210_1140-188dup	GALNS	Duplication (intron variant)	not provided	GBenign
Select item 1217111	NM_000512.5(GALNS):c.1140-256_1140-242del	GALNS	Deletion (intron variant)	not provided	GLikely benign
Select item 1197912	NM_000512.5(GALNS):c.1139+237C>A	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198257	NM_000512.5(GALNS):c.1139+108C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684029	NM_000512.5(GALNS):c.1139+97G>C	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302909	NM_000512.5(GALNS):c.1003-10T>G	GALNS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1296493	NM_000512.5(GALNS):c.1003-127G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212624	NM_000512.5(GALNS):c.1003-134del	GALNS	Deletion (intron variant)	not provided	GLikely benign
Select item 684028	NM_000512.5(GALNS):c.1003-170T>C	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1048431	NM_000512.5(GALNS):c.1002+307G>C	GALNS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216555	NM_000512.5(GALNS):c.1002+174C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198001	NM_000512.5(GALNS):c.1002+172A>G	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216722	NM_000512.5(GALNS):c.1002+157A>G	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707193	NM_000512.5(GALNS):c.1002+108C>G	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 373414	NM_000512.5(GALNS):c.947G>A (p.Gly316Glu)	GALNS (G316E +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GUncertain significance
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 1221269	NM_000512.5(GALNS):c.899-276G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227124	NM_000512.5(GALNS):c.899-277G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237777	NM_000512.5(GALNS):c.898+228_898+229del	GALNS	Deletion (intron variant)	not provided	GBenign
Select item 1273337	NM_000512.5(GALNS):c.898+208G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211781	NM_000512.5(GALNS):c.898+100C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272873	NM_000512.5(GALNS):c.898+68G>A	GALNS	Single nucleotide variant (intron variant)	not provided	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 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 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 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 706	NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)	GALNS (R259Q +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 1675645	NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)	GALNS (R259W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1260453	NM_000512.5(GALNS):c.759-84G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684024	NM_000512.5(GALNS):c.759-90A>T	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200252	NM_000512.5(GALNS):c.759-129G>C	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288302	NM_000512.5(GALNS):c.758+135G>A	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707200	NM_000512.5(GALNS):c.758+94C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256336	NM_000512.5(GALNS):c.758+22C>T	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 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 1279515	NM_000512.5(GALNS):c.634-125C>T	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258528	NM_000512.5(GALNS):c.634-130T>C	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261705	NM_000512.5(GALNS):c.634-134A>G	GALNS	Single nucleotide variant (intron variant)	not provided	GBenign

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