"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Universit - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048366	NC_000016.10:g.(?_88813734)_(88856758_?)del	GALNS, LOC126862447 +4 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048370	NM_000512.5(GALNS):c.120+1G>A	GALNS, LOC130059762 +1 more	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 847816	NM_000512.5(GALNS):c.120+1G>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048369	NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)	GALNS, LOC130059762 +1 more (D40G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048258	NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)	GALNS, LOC130059762 +1 more (D40N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048257	NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)	GALNS, LOC130059762 +1 more (D39Y)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 193104	NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)	GALNS, LOC130059762 +1 more	Microsatellite (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 1048256	NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)	GALNS, LOC130059762 +1 more (L36P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 528320	NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	GALNS, LOC130059762 +1 more (L36R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048255	NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)	GALNS, LOC130059762 +1 more (N32T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048254	NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)	GALNS, LOC130059762 +1 more (N32D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048253	NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)	GALNS, LOC130059762 +1 more (Q29*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048252	NM_000512.5(GALNS):c.77dup (p.Ala27fs)	GALNS, LOC130059762 +1 more (A27fs)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1048251	NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)	GALNS, LOC130059762 +1 more (G23R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 202175	NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	TRAPPC2L, GALNS +1 more (V16E)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048250	NM_000512.5(GALNS):c.43C>A (p.Leu15Met)	GALNS, LOC130059762 +1 more (L15M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048249	NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)	GALNS, LOC130059762 +1 more (Q12*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048248	NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)	GALNS, LOC130059762 +1 more (W10*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048176	NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del)	GALNS, LOC130059762 +1 more	Indel (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048247	NM_000512.5(GALNS):c.3G>A (p.Met1Ile)	GALNS, LOC130059762 +1 more (M1I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048246	NM_000512.5(GALNS):c.1A>G (p.Met1Val)	GALNS, LOC130059762 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048175	NM_000512.5(GALNS):c.-42G>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance

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Items: 22