"Natera, Inc."[submitter] AND "GNPTAB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306793	NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln)	GNPTAB (R1237Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
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 38429	NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)	GNPTAB (R1205*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +3 more	GPathogenic
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)	Pseudo-Hurler polydystrophy +3 more	GConflicting classifications of pathogenicity
Select item 726205	NM_024312.5(GNPTAB):c.3591G>A (p.Glu1197=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 557433	NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)	GNPTAB (R1191C)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 2764	NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)	GNPTAB (R1189*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 306795	NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 990624	NM_024312.5(GNPTAB):c.3515A>T (p.Tyr1172Phe)	GNPTAB (Y1172F)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
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 39074	NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)	GNPTAB (V1148fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 990625	NM_024312.5(GNPTAB):c.3364G>T (p.Ala1122Ser)	GNPTAB (A1122S)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 41257	NM_024312.5(GNPTAB):c.3336-1G>C	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis +2 more	GPathogenic/Likely pathogenic
Select item 858582	NM_024312.5(GNPTAB):c.3336-6A>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
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)	not provided +3 more	GPathogenic
Select item 928880	NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys)	GNPTAB (Y1105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 306799	NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=)	GNPTAB	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 990627	NM_024312.5(GNPTAB):c.3182T>C (p.Leu1061Pro)	GNPTAB (L1061P)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 754417	NM_024312.5(GNPTAB):c.3174A>G (p.Ser1058=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1009941	NM_024312.5(GNPTAB):c.3148C>A (p.Leu1050Met)	GNPTAB (L1050M)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 96121	NM_024312.5(GNPTAB):c.3135+5T>C	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 735732	NM_024312.5(GNPTAB):c.3123G>A (p.Pro1041=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 284195	NM_024312.5(GNPTAB):c.3114C>T (p.His1038=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 990628	NM_024312.5(GNPTAB):c.3106A>G (p.Arg1036Gly)	GNPTAB (R1036G)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 39065	NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)	GNPTAB (R1031*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +2 more	GPathogenic
Select item 1041561	NM_024312.5(GNPTAB):c.3026A>C (p.Asn1009Thr)	GNPTAB (N1009T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306802	NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)	GNPTAB (E968D)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 744240	NM_024312.5(GNPTAB):c.2886C>T (p.Asp962=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 763170	NM_024312.5(GNPTAB):c.2862T>C (p.Pro954=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 756741	NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 968831	NM_024312.5(GNPTAB):c.2715+3A>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +2 more	GUncertain significance
Select item 2768	NM_024312.5(GNPTAB):c.2715+1G>A	GNPTAB	Single nucleotide variant (splice donor variant)	GNPTAB-related disorder +3 more	GPathogenic
Select item 991276	NM_024312.5(GNPTAB):c.2715C>T (p.Asp905=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306803	NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)	GNPTAB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 306804	NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 991277	NM_024312.5(GNPTAB):c.2618C>T (p.Thr873Ile)	GNPTAB (T873I)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 167153	NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser)	GNPTAB (G871S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 991278	NM_024312.5(GNPTAB):c.2603A>T (p.Asn868Ile)	GNPTAB (N868I)	Single nucleotide variant (missense variant)	Mucolipidosis type II	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 730952	NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 991279	NM_024312.5(GNPTAB):c.2505C>T (p.Pro835=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 860593	NM_024312.5(GNPTAB):c.2504C>T (p.Pro835Leu)	GNPTAB (P835L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 306805	NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 306806	NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GBenign
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 388282	NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met)	GNPTAB (V781M)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 991280	NM_024312.5(GNPTAB):c.2164G>C (p.Asp722His)	GNPTAB (D722H)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 736709	NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 373482	NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe)	GNPTAB (L716F)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GUncertain significance
Select item 393114	NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)	GNPTAB (A707T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 719478	NM_024312.5(GNPTAB):c.2118C>T (p.Asp706=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 766601	NM_024312.5(GNPTAB):c.2094A>G (p.Val698=)	GNPTAB	Single nucleotide variant (synonymous variant)	not provided +3 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 306808	NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)	GNPTAB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 496455	NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=)	GNPTAB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 39041	NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)	GNPTAB (S654fs)	Microsatellite (frameshift variant)	Abnormality of metabolism/homeostasis +3 more	GPathogenic
Select item 991281	NM_024312.5(GNPTAB):c.1960A>T (p.Ser654Cys)	GNPTAB (S654C)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 965325	NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly)	GNPTAB (S654G)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GUncertain significance
Select item 1096660	NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 194264	NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)	GNPTAB (T644I)	Single nucleotide variant (missense variant)	Mucolipidosis type II +3 more	GBenign/Likely benign
Select item 725206	NM_024312.5(GNPTAB):c.1929T>G (p.Ser643=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GLikely benign
Select item 856935	NM_024312.5(GNPTAB):c.1905_1908del (p.Glu637fs)	GNPTAB (E637fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic
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 855860	NM_024312.5(GNPTAB):c.1875C>A (p.Phe625Leu)	GNPTAB (F625L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 792286	NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 753385	NM_024312.5(GNPTAB):c.1848G>A (p.Thr616=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 881639	NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn)	GNPTAB (T609N)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1016610	NM_024312.5(GNPTAB):c.1801A>G (p.Ile601Val)	GNPTAB (I601V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 991282	NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile)	GNPTAB (N593I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 39040	NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)	GNPTAB (R587*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +2 more	GPathogenic
Select item 731869	NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr)	GNPTAB (P584T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GBenign/Likely benign
Select item 551806	NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu)	GNPTAB (I557L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GUncertain significance
Select item 991283	NM_024312.5(GNPTAB):c.1655A>G (p.Gln552Arg)	GNPTAB (Q552R)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 306809	NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GBenign/Likely benign
Select item 38414	NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)	GNPTAB (C528fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic
Select item 527895	NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp)	GNPTAB (N524D)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 794726	NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 791000	NM_024312.5(GNPTAB):c.1500C>T (p.Asn500=)	GNPTAB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 786142	NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr)	GNPTAB (I478T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 39034	NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)	GNPTAB (D467fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 739533	NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 727753	NM_024312.5(GNPTAB):c.1302T>G (p.Pro434=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 38413	NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)	GNPTAB (S399F)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 991284	NM_024312.5(GNPTAB):c.1185C>T (p.Ile395=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 306811	NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 740231	NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 39022	NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)	GNPTAB (R375*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 991285	NM_024312.5(GNPTAB):c.1114-14GTT[2]	GNPTAB	Microsatellite (intron variant)	Mucolipidosis type II +1 more	GBenign
Select item 991286	NM_024312.5(GNPTAB):c.1110C>G (p.His370Gln)	GNPTAB (H370Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II	GUncertain significance
Select item 39021	NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)	GNPTAB (R364*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +2 more	GPathogenic
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

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