ClinVar for MedGen (Select 10988) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954471	NM_024312.5(GNPTAB):c.1569C>T (p.Cys523=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2954465	NM_024312.5(GNPTAB):c.3602+15T>A	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2954423	NM_024312.5(GNPTAB):c.2285del (p.Leu762fs)	GNPTAB (L762fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic
Select item 2954389	NM_024312.5(GNPTAB):c.1536C>G (p.Ser512=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2954143	NM_024312.5(GNPTAB):c.772-15C>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2953778	NM_024312.5(GNPTAB):c.945T>C (p.Asp315=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2953771	NM_024312.5(GNPTAB):c.2025C>T (p.Phe675=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2953734	NM_024312.5(GNPTAB):c.2505C>G (p.Pro835=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2953595	NM_024312.5(GNPTAB):c.1191G>A (p.Gly397=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2953594	NM_024312.5(GNPTAB):c.1809C>T (p.His603=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2953482	NM_024312.5(GNPTAB):c.323+12T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2953306	NM_024312.5(GNPTAB):c.3085_3086del (p.Glu1029fs)	GNPTAB (E1029fs)	Microsatellite (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2953123	NM_024312.5(GNPTAB):c.771+8C>T	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2953092	NM_024312.5(GNPTAB):c.1959T>G (p.Val653=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2953003	NM_024312.5(GNPTAB):c.3489A>G (p.Thr1163=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952798	NM_024312.5(GNPTAB):c.1408+7A>T	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952660	NM_024312.5(GNPTAB):c.519A>C (p.Pro173=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952250	NM_024312.5(GNPTAB):c.2877C>T (p.His959=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952236	NM_024312.5(GNPTAB):c.3249+20T>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952187	NM_024312.5(GNPTAB):c.118-19T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952186	NM_024312.5(GNPTAB):c.2079G>A (p.Val693=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952119	NM_024312.5(GNPTAB):c.1050C>T (p.Thr350=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952079	NM_024312.5(GNPTAB):c.1612+16A>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2952002	NM_024312.5(GNPTAB):c.1455G>A (p.Gly485=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951940	NM_024312.5(GNPTAB):c.900A>T (p.Ala300=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951880	NM_024312.5(GNPTAB):c.3093A>T (p.Arg1031=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951879	NM_024312.5(GNPTAB):c.3098dup (p.Ala1034fs)	GNPTAB (A1034fs)	Duplication (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2951809	NM_024312.5(GNPTAB):c.3369del (p.Phe1123fs)	GNPTAB (F1123fs)	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2951769	NM_024312.5(GNPTAB):c.2985C>T (p.Phe995=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951504	NM_024312.5(GNPTAB):c.1932A>C (p.Thr644=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951490	NM_024312.5(GNPTAB):c.571+9T>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951475	NM_024312.5(GNPTAB):c.324-16A>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951466	NM_024312.5(GNPTAB):c.73T>C (p.Leu25=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2951055	NM_024312.5(GNPTAB):c.3148C>T (p.Leu1050=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2950579	NM_024312.5(GNPTAB):c.3199C>T (p.Gln1067Ter)	GNPTAB (Q1067*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2950421	NM_024312.5(GNPTAB):c.3602+20A>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2950398	NM_024312.5(GNPTAB):c.3250-19T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2950319	NM_024312.5(GNPTAB):c.213G>A (p.Leu71=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2950234	NM_024312.5(GNPTAB):c.324-19T>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2950059	NM_024312.5(GNPTAB):c.2295A>G (p.Pro765=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949899	NM_024312.5(GNPTAB):c.3335+9T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949898	NM_024312.5(GNPTAB):c.240C>T (p.Thr80=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949887	NM_024312.5(GNPTAB):c.1962T>C (p.Ser654=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949872	NM_024312.5(GNPTAB):c.1023A>C (p.Pro341=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949726	NM_024312.5(GNPTAB):c.3595C>T (p.Gln1199Ter)	GNPTAB (Q1199*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2949707	NM_024312.5(GNPTAB):c.2737C>T (p.Gln913Ter)	GNPTAB (Q913*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2949680	NM_024312.5(GNPTAB):c.2936_2943del (p.Lys979fs)	GNPTAB (K979fs)	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2949639	NM_024312.5(GNPTAB):c.1848G>C (p.Thr616=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949589	NM_024312.5(GNPTAB):c.2004T>C (p.Asp668=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949527	NM_024312.5(GNPTAB):c.1612+17A>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2949474	NM_024312.5(GNPTAB):c.1495del (p.Gly498_Ile499insTer)	GNPTAB	Deletion (nonsense)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2949353	NM_024312.5(GNPTAB):c.1409-1G>A	GNPTAB	Single nucleotide variant (splice acceptor variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2949309	NM_024312.5(GNPTAB):c.147C>G (p.Tyr49Ter)	GNPTAB (Y49*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2948961	NM_024312.5(GNPTAB):c.637-1del	GNPTAB	Deletion (splice acceptor variant)	Pseudo-Hurler polydystrophy +1 more	GLikely pathogenic
Select item 2948858	NM_024312.5(GNPTAB):c.772-18C>T	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2948683	NM_024312.5(GNPTAB):c.1858_1880del (p.Thr620fs)	GNPTAB (T620fs)	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2948524	NM_024312.5(GNPTAB):c.3569del (p.Asn1190fs)	GNPTAB (N1190fs)	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2948330	NM_024312.5(GNPTAB):c.204-2A>G	GNPTAB	Single nucleotide variant (splice acceptor variant)	Pseudo-Hurler polydystrophy +1 more	GLikely pathogenic
Select item 2948306	NM_024312.5(GNPTAB):c.2961T>C (p.His987=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2948300	NM_024312.5(GNPTAB):c.165C>G (p.Ser55=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2948299	NM_024312.5(GNPTAB):c.3711G>T (p.Arg1237=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2948269	NM_024312.5(GNPTAB):c.2715+7A>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2948257	NM_024312.5(GNPTAB):c.3273_3280del (p.Val1091_Thr1092insTer)	GNPTAB	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2948077	NM_024312.5(GNPTAB):c.1613-1G>C	GNPTAB	Single nucleotide variant (splice acceptor variant)	Pseudo-Hurler polydystrophy +1 more	GLikely pathogenic
Select item 2947866	NM_024312.5(GNPTAB):c.3432T>C (p.Pro1144=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947706	NM_024312.5(GNPTAB):c.2915+16G>T	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947679	NM_024312.5(GNPTAB):c.769C>T (p.Leu257=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947567	NM_024312.5(GNPTAB):c.2097T>C (p.Asn699=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947462	NM_024312.5(GNPTAB):c.2725T>G (p.Ser909Ala)	GNPTAB (S909A)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 2947290	NM_024312.5(GNPTAB):c.2497G>T (p.Glu833Ter)	GNPTAB (E833*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2947170	NM_024312.5(GNPTAB):c.3603-16T>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947153	NM_024312.5(GNPTAB):c.1356T>C (p.Cys452=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947122	NM_024312.5(GNPTAB):c.366-12G>T	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947120	NM_024312.5(GNPTAB):c.14T>C (p.Leu5Pro)	GNPTAB (L5P)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 2947093	NM_024312.5(GNPTAB):c.3136-19T>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2947010	NM_024312.5(GNPTAB):c.3435-12C>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946978	NM_024312.5(GNPTAB):c.739T>C (p.Leu247=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946958	NM_024312.5(GNPTAB):c.1971A>T (p.Thr657=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946945	NM_024312.5(GNPTAB):c.1857T>C (p.Asn619=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946920	NM_024312.5(GNPTAB):c.203+1G>A	GNPTAB	Single nucleotide variant (splice donor variant)	Pseudo-Hurler polydystrophy +1 more	GLikely pathogenic
Select item 2946783	NM_024312.5(GNPTAB):c.3303C>T (p.Ile1101=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946658	NM_024312.5(GNPTAB):c.3249+12G>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946592	NM_024312.5(GNPTAB):c.571+15T>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946320	NM_024312.5(GNPTAB):c.933+14A>G	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946223	NM_024312.5(GNPTAB):c.1408+18T>C	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +1 more	GLikely benign
Select item 2946180	NM_024312.5(GNPTAB):c.1416_1420del (p.Ser472fs)	GNPTAB (S472fs)	Deletion (frameshift variant)	Pseudo-Hurler polydystrophy +1 more	GPathogenic
Select item 2945580	NM_024312.5(GNPTAB):c.571+15T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945575	NM_024312.5(GNPTAB):c.2379G>C (p.Val793=)	GNPTAB	Single nucleotide variant (synonymous 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)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945379	NM_024312.5(GNPTAB):c.1038T>C (p.Ile346=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945358	NM_024312.5(GNPTAB):c.771+19G>A	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945354	NM_024312.5(GNPTAB):c.839del (p.Glu279_Leu280insTer)	GNPTAB	Deletion (nonsense)	Mucolipidosis type II +1 more	GPathogenic
Select item 2945197	NM_024312.5(GNPTAB):c.3134_3135+8delinsCGTTAAGTAGATT	GNPTAB	Indel (splice donor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 2945173	NM_024312.5(GNPTAB):c.1488T>C (p.Gly496=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945091	NM_024312.5(GNPTAB):c.2907G>A (p.Leu969=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945085	NM_024312.5(GNPTAB):c.571+8C>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2945059	NM_024312.5(GNPTAB):c.772-17C>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2944689	NM_024312.5(GNPTAB):c.3249+18C>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2944672	NM_024312.5(GNPTAB):c.933+9T>C	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +1 more	GLikely benign
Select item 2944608	NM_024312.5(GNPTAB):c.2568A>G (p.Glu856=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +1 more	GLikely benign

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