"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GNPTAB"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574283	NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr)	GNPTAB (A1234T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GUncertain significance
Select item 2773	NM_024312.5(GNPTAB):c.3335+6T>G	GNPTAB	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 2772	NM_024312.5(GNPTAB):c.3335+1G>A	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis +3 more	GPathogenic
Select item 990626	NM_024312.5(GNPTAB):c.3198G>A (p.Thr1066=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 306800	NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met)	GNPTAB (T1066M)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GBenign/Likely benign
Select item 550844	NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)	GNPTAB (Q967R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 39059	NM_024312.5(GNPTAB):c.2715+2T>G	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis +3 more	GPathogenic/Likely pathogenic
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 1042250	NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu)	GNPTAB (P696L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 550685	NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp)	GNPTAB (G648D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 574282	NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)	GNPTAB (I629V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GUncertain significance
Select item 551806	NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu)	GNPTAB (I557L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39035	NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)	GNPTAB (C505Y)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +3 more	GPathogenic/Likely pathogenic
Select item 281020	NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp)	GNPTAB (Y477D)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +3 more	GConflicting classifications of pathogenicity
Select item 554325	NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg)	GNPTAB (K428R)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 660594	NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln)	GNPTAB (R375Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39021	NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)	GNPTAB (R364*)	Single nucleotide variant (nonsense)	Mucolipidosis +2 more	GPathogenic
Select item 39020	NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)	GNPTAB (I348L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 556992	NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)	GNPTAB (P341fs)	Duplication (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 991288	NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys)	GNPTAB (E327K)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 735234	NM_024312.5(GNPTAB):c.771+7A>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GBenign/Likely benign
Select item 883626	NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val)	GNPTAB (A171V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 281019	NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)	GNPTAB (I167N)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GConflicting classifications of pathogenicity
Select item 550053	NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)	GNPTAB (K113E)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance

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Items: 24