"Illumina Laboratory Services, Illumina"[submitter] AND "GNPTAB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306767	NM_024312.5(GNPTAB):c.*1632del	GNPTAB	Deletion (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GUncertain significance
Select item 882345	NM_024312.5(GNPTAB):c.*1550C>A	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306768	NM_024312.5(GNPTAB):c.*1464A>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306769	NM_024312.5(GNPTAB):c.*1457A>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GBenign
Select item 306770	NM_024312.5(GNPTAB):c.*1390G>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 882612	NM_024312.5(GNPTAB):c.*1370C>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 882613	NM_024312.5(GNPTAB):c.*1243C>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306771	NM_024312.5(GNPTAB):c.*1240T>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GBenign
Select item 306772	NM_024312.5(GNPTAB):c.*1233T>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GUncertain significance
Select item 306773	NM_024312.5(GNPTAB):c.*1195A>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GBenign
Select item 883392	NM_024312.5(GNPTAB):c.*1160G>A	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306774	NM_024312.5(GNPTAB):c.*1109GTT[8]	GNPTAB	Microsatellite (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GLikely benign
Select item 306775	NM_024312.5(GNPTAB):c.*1109G>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306776	NM_024312.5(GNPTAB):c.*1093C>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 881043	NM_024312.5(GNPTAB):c.*1033C>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306777	NM_024312.5(GNPTAB):c.*920G>A	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GUncertain significance
Select item 881044	NM_024312.5(GNPTAB):c.*911A>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306778	NM_024312.5(GNPTAB):c.*888AG[3]	GNPTAB	Microsatellite (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GLikely benign
Select item 306779	NM_024312.5(GNPTAB):c.*842T>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 881502	NM_024312.5(GNPTAB):c.*839C>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306780	NM_024312.5(GNPTAB):c.*814T>G	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GBenign
Select item 306781	NM_024312.5(GNPTAB):c.*739T>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306782	NM_024312.5(GNPTAB):c.*646G>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306783	NM_024312.5(GNPTAB):c.*612T>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GBenign
Select item 306784	NM_024312.5(GNPTAB):c.*558del	GNPTAB	Deletion (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GUncertain significance
Select item 882660	NM_024312.5(GNPTAB):c.*557A>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 882661	NM_024312.5(GNPTAB):c.*478C>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306785	NM_024312.5(GNPTAB):c.*436G>A	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306786	NM_024312.5(GNPTAB):c.*419dup	GNPTAB	Duplication (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GUncertain significance
Select item 306787	NM_024312.5(GNPTAB):c.*419del	GNPTAB	Deletion (3 prime UTR variant)	Mucolipidosis, Type III Alpha/Beta +1 more	GUncertain significance
Select item 306788	NM_024312.5(GNPTAB):c.*323T>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 306789	NM_024312.5(GNPTAB):c.*143G>A	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +2 more	GBenign/Likely benign
Select item 883435	NM_024312.5(GNPTAB):c.*103G>A	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306790	NM_024312.5(GNPTAB):c.*63C>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306791	NM_024312.5(GNPTAB):c.*51A>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306792	NM_024312.5(GNPTAB):c.*43C>T	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Mucolipidosis type II +3 more	GBenign
Select item 881081	NM_024312.5(GNPTAB):c.3758G>A (p.Arg1253Gln)	GNPTAB (R1253Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
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 195529	NM_024312.5(GNPTAB):c.3693+10A>T	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 306794	NM_024312.5(GNPTAB):c.3693G>C (p.Gln1231His)	GNPTAB (Q1231H)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 96122	NM_024312.5(GNPTAB):c.3602+8C>A	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 68107	NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	GNPTAB (E1200K)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 306795	NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 2771	NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	GNPTAB (L1168fs)	Microsatellite (frameshift variant)	Mucolipidosis type II +4 more	GPathogenic
Select item 882710	NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 261694	NM_024312.5(GNPTAB):c.3335+14G>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +2 more	GConflicting classifications of pathogenicity
Select item 306796	NM_024312.5(GNPTAB):c.3335+11C>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GBenign/Likely benign
Select item 306797	NM_024312.5(GNPTAB):c.3306C>G (p.His1102Gln)	GNPTAB (H1102Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306798	NM_024312.5(GNPTAB):c.3286C>T (p.Pro1096Ser)	GNPTAB (P1096S)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 883483	NM_024312.5(GNPTAB):c.3250-8T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 883484	NM_024312.5(GNPTAB):c.3250-12A>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 306799	NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +3 more	GConflicting classifications of pathogenicity
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 306801	NM_024312.5(GNPTAB):c.3194T>C (p.Ile1065Thr)	GNPTAB (I1065T)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 96121	NM_024312.5(GNPTAB):c.3135+5T>C	GNPTAB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 881595	NM_024312.5(GNPTAB):c.3115G>C (p.Glu1039Gln)	GNPTAB (E1039Q)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306802	NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)	GNPTAB (E968D)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 881596	NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 2768	NM_024312.5(GNPTAB):c.2715+1G>A	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis +3 more	GPathogenic
Select item 306803	NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GBenign/Likely benign
Select item 306804	NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 167153	NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser)	GNPTAB (G871S)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +3 more	GBenign/Likely benign
Select item 306805	NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 306806	NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GBenign
Select item 388282	NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met)	GNPTAB (V781M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 306807	NM_024312.5(GNPTAB):c.2225A>G (p.Asn742Ser)	GNPTAB (N742S)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 883540	NM_024312.5(GNPTAB):c.2166C>T (p.Asp722=)	GNPTAB	Single nucleotide variant (synonymous 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)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 96119	NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=)	GNPTAB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 194264	NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)	GNPTAB (T644I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 558793	NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser)	GNPTAB (N621S)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GConflicting classifications of pathogenicity
Select item 881639	NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn)	GNPTAB (T609N)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 723773	NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 100737	NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)	GNPTAB (A592T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 731869	NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr)	GNPTAB (P584T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GBenign/Likely benign
Select item 306809	NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +2 more	GBenign/Likely benign
Select item 882801	NM_024312.5(GNPTAB):c.1613-3T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 558795	NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 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 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 883587	NM_024312.5(GNPTAB):c.1427G>C (p.Arg476Pro)	GNPTAB (R476P)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306810	NM_024312.5(GNPTAB):c.1269C>T (p.His423=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 306811	NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 39022	NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)	GNPTAB (R375*)	Single nucleotide variant (nonsense)	GNPTAB-Related Disorders +3 more	GPathogenic
Select item 881223	NM_024312.5(GNPTAB):c.1114-14G>A	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 306812	NM_024312.5(GNPTAB):c.1113+12T>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
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 881224	NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 881688	NM_024312.5(GNPTAB):c.866C>G (p.Thr289Ser)	GNPTAB (T289S)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306813	NM_024312.5(GNPTAB):c.863T>C (p.Met288Thr)	GNPTAB (M288T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 881689	NM_024312.5(GNPTAB):c.805C>G (p.Leu269Val)	GNPTAB (L269V)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 631534	NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter)	GNPTAB (Q259*)	Single nucleotide variant (nonsense)	GNPTAB-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 881690	NM_024312.5(GNPTAB):c.772-7T>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 306814	NM_024312.5(GNPTAB):c.703C>G (p.Pro235Ala)	GNPTAB (P235A)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 261697	NM_024312.5(GNPTAB):c.630C>T (p.Gly210=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +2 more	GConflicting classifications of pathogenicity
Select item 882836	NM_024312.5(GNPTAB):c.609C>G (p.Ser203Arg)	GNPTAB (S203R)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 882837	NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly)	GNPTAB (D193G)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 306815	NM_024312.5(GNPTAB):c.571+12T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GBenign/Likely benign
Select item 306816	NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
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

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