GNPTAB[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1560

<< First< Prev

Page of 16

	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)	not provided +2 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)	not provided +2 more	GLikely benign
Select item 2499513	NM_024312.5(GNPTAB):c.*295T>C	GNPTAB	Single nucleotide variant (3 prime UTR variant)	Pseudo-Hurler polydystrophy	GPathogenic
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)	not specified +3 more	GBenign
Select item 1661439	NM_024312.5(GNPTAB):c.3765A>G (p.Arg1255=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1982887	NM_024312.5(GNPTAB):c.3762C>A (p.Ile1254=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 1617478	NM_024312.5(GNPTAB):c.3753C>T (p.Pro1251=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 1647311	NM_024312.5(GNPTAB):c.3747T>C (p.Ala1249=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 39078	NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs)	GNPTAB (E1248fs)	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy	GPathogenic
Select item 999328	NM_024312.5(GNPTAB):c.3733A>T (p.Ile1245Leu)	GNPTAB (I1245L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 2083722	NM_024312.5(GNPTAB):c.3715A>G (p.Ile1239Val)	GNPTAB (I1239V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 2948299	NM_024312.5(GNPTAB):c.3711G>T (p.Arg1237=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 554200	NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)	GNPTAB (K1236R)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 1114344	NM_024312.5(GNPTAB):c.3702A>G (p.Ala1234=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
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 1129208	NM_024312.5(GNPTAB):c.3696A>G (p.Leu1232=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1677058	NM_024312.5(GNPTAB):c.3694-1G>A	GNPTAB	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 556345	NM_024312.5(GNPTAB):c.3694-1G>C	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 1664553	NM_024312.5(GNPTAB):c.3694-7C>A	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 747107	NM_024312.5(GNPTAB):c.3694-7C>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2926655	NM_024312.5(GNPTAB):c.3694-14C>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2938532	NM_024312.5(GNPTAB):c.3694-17T>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1290829	NM_024312.5(GNPTAB):c.3694-84A>T	GNPTAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261696	NM_024312.5(GNPTAB):c.3693+32A>G	GNPTAB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2934590	NM_024312.5(GNPTAB):c.3693+17_3693+20del	GNPTAB	Deletion (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1986726	NM_024312.5(GNPTAB):c.3693+18T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945427	NM_024312.5(GNPTAB):c.3693+17T>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2925102	NM_024312.5(GNPTAB):c.3693+17T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2925997	NM_024312.5(GNPTAB):c.3693+10AT[2]	GNPTAB	Microsatellite (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2939955	NM_024312.5(GNPTAB):c.3693+14A>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
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 749475	NM_024312.5(GNPTAB):c.3693+9del	GNPTAB	Deletion (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2943759	NM_024312.5(GNPTAB):c.3693+8T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 948703	NM_024312.5(GNPTAB):c.3693+3_3693+6del	GNPTAB	Deletion (splice donor variant)	Mucolipidosis type II +1 more	GUncertain significance
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 2943334	NM_024312.5(GNPTAB):c.3690G>A (p.Glu1230=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2021189	NM_024312.5(GNPTAB):c.3678_3680del (p.Phe1228del)	GNPTAB (F1228del)	Deletion (inframe_deletion)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 2133581	NM_024312.5(GNPTAB):c.3666T>C (p.Phe1222=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1428348	NM_024312.5(GNPTAB):c.3664T>A (p.Phe1222Ile)	GNPTAB (F1222I)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 997888	NM_024312.5(GNPTAB):c.3663del (p.Met1221fs)	GNPTAB (M1221fs)	Deletion (frameshift variant)	Mucolipidosis	GLikely pathogenic
Select item 1414596	NM_024312.5(GNPTAB):c.3658A>G (p.Ile1220Val)	GNPTAB (I1220V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 1156689	NM_024312.5(GNPTAB):c.3655T>C (p.Leu1219=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2930509	NM_024312.5(GNPTAB):c.3654A>G (p.Thr1218=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1252037	NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs)	GNPTAB (T1218fs)	Deletion (frameshift variant)	Mucolipidosis type II	GPathogenic
Select item 2020692	NM_024312.5(GNPTAB):c.3641_3646del (p.Cys1214_Val1215del)	GNPTAB	Deletion (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 798380	NM_024312.5(GNPTAB):c.3645A>G (p.Val1215=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2053570	NM_024312.5(GNPTAB):c.3639T>C (p.His1213=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1997983	NM_024312.5(GNPTAB):c.3636C>A (p.Thr1212=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1565515	NM_024312.5(GNPTAB):c.3636C>T (p.Thr1212=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2035881	NM_024312.5(GNPTAB):c.3621del (p.Lys1207fs)	GNPTAB (K1207fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic
Select item 1143889	NM_024312.5(GNPTAB):c.3615A>T (p.Arg1205=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2143293	NM_024312.5(GNPTAB):c.3614G>A (p.Arg1205Gln)	GNPTAB (R1205Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
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 1100084	NM_024312.5(GNPTAB):c.3612T>C (p.Tyr1204=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1537373	NM_024312.5(GNPTAB):c.3606G>A (p.Arg1202=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 557839	NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)	GNPTAB (W1201*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 504892	NM_024312.5(GNPTAB):c.3603-1G>A	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis +2 more	GPathogenic
Select item 2025345	NM_024312.5(GNPTAB):c.3603-5C>A	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1994862	NM_024312.5(GNPTAB):c.3603-5C>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2939001	NM_024312.5(GNPTAB):c.3603-7T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2928315	NM_024312.5(GNPTAB):c.3603-12CT[2]	GNPTAB	Microsatellite (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2085166	NM_024312.5(GNPTAB):c.3603-9T>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 1543225	NM_024312.5(GNPTAB):c.3603-12_3603-10del	GNPTAB	Deletion (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 1133470	NM_024312.5(GNPTAB):c.3603-10C>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign

<< First< Prev

Page of 16