"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GNPTAB"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558791	NM_024312.5(GNPTAB):c.3751C>T (p.Pro1251Ser)	GNPTAB (P1251S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574283	NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr)	GNPTAB (A1234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 195529	NM_024312.5(GNPTAB):c.3693+10A>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +3 more	GBenign/Likely benign
Select item 96122	NM_024312.5(GNPTAB):c.3602+8C>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +3 more	GBenign
Select item 68107	NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	GNPTAB (E1200K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2771	NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	GNPTAB (L1168fs)	Microsatellite (frameshift variant)	GNPTAB-related disorder +4 more	GPathogenic
Select item 261695	NM_024312.5(GNPTAB):c.3336-25T>C	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 261694	NM_024312.5(GNPTAB):c.3335+14G>A	GNPTAB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 96121	NM_024312.5(GNPTAB):c.3135+5T>C	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2683213	NM_024312.5(GNPTAB):c.2937G>C (p.Lys979Asn)	GNPTAB (K979N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380120	NM_024312.5(GNPTAB):c.2657A>G (p.Asp886Gly)	GNPTAB (D886G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558792	NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys)	GNPTAB (R861K)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 970999	NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys)	GNPTAB (E783K)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 96119	NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +3 more	GBenign
Select item 574282	NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)	GNPTAB (I629V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 558793	NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser)	GNPTAB (N621S)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 100737	NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)	GNPTAB (A592T)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +3 more	GConflicting classifications of pathogenicity
Select item 558794	NM_024312.5(GNPTAB):c.1613-34dup	GNPTAB	Duplication (intron variant)	not provided	GLikely benign
Select item 496802	NM_024312.5(GNPTAB):c.1612+28T>C	GNPTAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 558795	NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GBenign
Select item 558796	NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 558797	NM_024312.5(GNPTAB):c.1114-17T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GBenign
Select item 3380121	NM_024312.5(GNPTAB):c.1085A>G (p.Asn362Ser)	GNPTAB (N362S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154085	NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp)	GNPTAB (N351D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 39020	NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)	GNPTAB (I348L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2683214	NM_024312.5(GNPTAB):c.758C>T (p.Ser253Phe)	GNPTAB (S253F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882837	NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly)	GNPTAB (D193G)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GUncertain significance
Select item 550053	NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)	GNPTAB (K113E)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GUncertain significance
Select item 558798	NM_024312.5(GNPTAB):c.323+11dup	GNPTAB	Duplication (intron variant)	Mucolipidosis type II +2 more	GBenign/Likely benign
Select item 1429181	NM_024312.5(GNPTAB):c.257A>C (p.Asp86Ala)	GNPTAB (D86A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 306819	NM_024312.5(GNPTAB):c.204-15G>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +2 more	GBenign
Select item 558799	NM_024312.5(GNPTAB):c.204-21G>C	GNPTAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558800	NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)	GNPTAB (R46Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 167154	NM_024312.5(GNPTAB):c.27G>A (p.Gln9=)	GNPTAB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 96118	NM_024312.5(GNPTAB):c.18G>A (p.Leu6=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +3 more	GBenign
Select item 2151371	NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)	GNPTAB (F3L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GConflicting classifications of pathogenicity

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Items: 36