"Eurofins Ntd Llc (ga)"[submitter] AND "GALNS"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 194338	NM_000512.5(GALNS):c.1513G>A (p.Gly505Arg)	GALNS (G505R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 194177	NM_000512.5(GALNS):c.1421A>C (p.Gln474Pro)	GALNS, LOC126862447 (Q474P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 592181	NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)	GALNS (A393del +2 more)	Microsatellite (inframe_deletion)	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 93164	NM_000512.5(GALNS):c.1176G>A (p.Ala392=)	GALNS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 282902	NM_000512.5(GALNS):c.1113C>T (p.Thr371=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 93161	NM_000512.5(GALNS):c.1002+17C>T	GALNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 497336	NM_000512.5(GALNS):c.899-66_907delinsACTCAGTG	GALNS	Indel (splice acceptor variant)	not provided	GPathogenic
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 284438	NM_000512.5(GALNS):c.899-6T>C	GALNS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256338	NM_000512.5(GALNS):c.898+25C>G	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 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 93184	NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)	GALNS (T235K +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +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 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 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 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 280960	NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)	GALNS (Y190C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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
Select item 93179	NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)	GALNS (W159* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic
Select item 93178	NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)	GALNS (G155R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +2 more	GPathogenic/Likely pathogenic
Select item 93177	NM_000512.5(GALNS):c.405_422+1del	GALNS	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 197149	NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)	GALNS (W141R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 265167	NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)	GALNS (G139S +1 more)	Single nucleotide variant (missense variant +1 more)	Morquio syndrome +2 more	GPathogenic
Select item 703	NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	GALNS (I113F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 196279	NM_000512.5(GALNS):c.319+15G>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GConflicting classifications of pathogenicity
Select item 256333	NM_000512.5(GALNS):c.318C>T (p.Asn106=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 167127	NM_000512.5(GALNS):c.281G>A (p.Arg94His)	GALNS (R94H +1 more)	Single nucleotide variant (missense variant +1 more)	Morquio syndrome +2 more	GConflicting classifications of pathogenicity
Select item 93176	NM_000512.5(GALNS):c.266G>T (p.Gly89Val)	GALNS (G89V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 93175	NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	GALNS (S82L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 496880	NM_000512.5(GALNS):c.244+49C>T	GALNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 93174	NM_000512.5(GALNS):c.244+19C>T	GALNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 93173	NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)	GALNS (Y73C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 93172	NM_000512.5(GALNS):c.199C>A (p.Leu67Met)	GALNS (L67M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 281018	NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)	GALNS (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +2 more	GPathogenic/Likely pathogenic
Select item 193104	NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)	GALNS, LOC130059762 +1 more	Microsatellite (inframe_deletion +1 more)	Morquio syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 56