"Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS"[ - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917835	NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)	GNPTAB (W1201*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397573	NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser)	GNPTAB (F1192S)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397574	NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe)	GNPTAB (S1180F)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397566	NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs)	GNPTAB (L1150fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397572	NM_024312.5(GNPTAB):c.3336-1G>A	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397571	NM_024312.5(GNPTAB):c.3250-10_3335+112dup	GNPTAB	Duplication (splice acceptor variant +1 more)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917841	NM_024312.5(GNPTAB):c.3250-16_3335+104dup	GNPTAB	Duplication (splice acceptor variant +1 more)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917838	NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer)	GNPTAB	Indel (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397570	NM_024312.5(GNPTAB):c.3250-1_3250delinsAT	GNPTAB	Indel (splice acceptor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917840	NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs)	GNPTAB (F995fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917833	NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)	GNPTAB (R986H)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GLikely pathogenic
Select item 397568	NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)	GNPTAB (R986C)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GPathogenic/Likely pathogenic
Select item 397569	NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs)	GNPTAB (R986fs)	Duplication (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917834	NM_024312.5(GNPTAB):c.2953_2954delinsA (p.Val985fs)	GNPTAB (V985fs)	Indel (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397563	NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs)	GNPTAB (L892fs)	Duplication (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397561	NM_024312.5(GNPTAB):c.2614del (p.Val872fs)	GNPTAB (V872fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397562	NM_024312.5(GNPTAB):c.2550_2554dup (p.Ile852fs)	GNPTAB (I852fs)	Microsatellite (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 39055	NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)	GNPTAB (K850fs)	Microsatellite (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 397567	NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs)	GNPTAB (F790fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917839	NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs)	GNPTAB (S710fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 766514	NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=)	GNPTAB	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 397564	NM_024312.5(GNPTAB):c.1613-25del	GNPTAB	Deletion (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 397560	NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn)	GNPTAB (D534N)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917836	NM_024312.5(GNPTAB):c.1540C>T (p.Leu514Phe)	GNPTAB (L514F)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 397559	NM_024312.5(GNPTAB):c.1408+1G>T	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 193739	NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)	GNPTAB (T382P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 397558	NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del)	GNPTAB (P341del)	Deletion (inframe_deletion)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 917837	NM_024312.5(GNPTAB):c.571+4A>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397556	NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile)	GNPTAB (V191I)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 397557	NM_024312.5(GNPTAB):c.378dup (p.Glu127fs)	GNPTAB (E127fs)	Duplication (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic

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Items: 30