ClinVar for MedGen (Select 82779) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062257	NM_000308.4(CTSA):c.948+1G>A	CTSA	Single nucleotide variant (splice donor variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely pathogenic
Select item 3022656	NM_000308.4(CTSA):c.510C>T (p.Asn170=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3020832	NM_000308.4(CTSA):c.949-11G>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3016847	NM_000308.4(CTSA):c.306+7G>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3015983	NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)	CTSA (Q352* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 3015963	NM_000308.4(CTSA):c.949-18A>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3013332	NM_000308.4(CTSA):c.1035C>A (p.Tyr345Ter)	CTSA (Y345* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 3010013	NM_000308.4(CTSA):c.307-7T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3009139	NM_000308.4(CTSA):c.-1+13C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3007315	NM_000308.4(CTSA):c.195-15T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3006658	NM_000308.4(CTSA):c.307-20G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3006202	NM_000308.4(CTSA):c.870-7A>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3005977	NM_000308.4(CTSA):c.777+12C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3005536	NM_000308.4(CTSA):c.949-13C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3003315	NM_000308.4(CTSA):c.693-7_693-5del	CTSA	Deletion (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3002724	NM_000308.4(CTSA):c.692+17T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3001192	NM_000308.4(CTSA):c.1088+18C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3000516	NM_000308.4(CTSA):c.507C>T (p.Asn169=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 3000118	NM_000308.4(CTSA):c.69G>T (p.Ala23=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2998583	NM_000308.4(CTSA):c.558C>T (p.Thr186=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2996664	NM_000308.4(CTSA):c.625_626del (p.Ser209fs)	CTSA (S192fs +1 more)	Microsatellite (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 2995583	NM_000308.4(CTSA):c.693-18C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2995551	NM_000308.4(CTSA):c.1359+19G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2993774	NM_000308.4(CTSA):c.778-17T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2992903	NM_000308.4(CTSA):c.1428C>T (p.Asn476=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2983772	NM_000308.4(CTSA):c.357+13C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2983356	NM_000308.4(CTSA):c.693-14C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2981564	NM_000308.4(CTSA):c.819C>T (p.Asn273=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2978500	NM_000308.4(CTSA):c.869+19C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2977364	NM_000308.4(CTSA):c.1044G>A (p.Lys348=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2977232	NM_000308.4(CTSA):c.189C>T (p.His63=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2975006	NM_000308.4(CTSA):c.309C>T (p.Val103=)	CTSA	Single nucleotide variant (intron variant +2 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2974790	NM_000308.4(CTSA):c.1165-19T>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2973874	NM_000308.4(CTSA):c.1255-4G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2973681	NM_000308.4(CTSA):c.975G>A (p.Val325=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2973631	NM_000308.4(CTSA):c.1194T>C (p.Asp398=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2968707	NM_000308.4(CTSA):c.1395C>T (p.Leu465=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2968562	NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)	CTSA (W117*)	Single nucleotide variant (nonsense +2 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 2966212	NM_000308.4(CTSA):c.966G>C (p.Gly322=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2962180	NM_000308.4(CTSA):c.1360-17C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2960859	NM_000308.4(CTSA):c.669C>T (p.Tyr223=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2959817	NM_000308.4(CTSA):c.195-15_195-8del	CTSA	Deletion (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2958916	NM_000308.4(CTSA):c.1254+11G>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2958349	NM_000308.4(CTSA):c.549C>T (p.Tyr183=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2957088	NM_000308.4(CTSA):c.1360-13C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2956220	NM_000308.4(CTSA):c.558C>G (p.Thr186=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2955196	NM_000308.4(CTSA):c.1089-8C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2954761	NM_000308.4(CTSA):c.1350C>G (p.Leu450=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2919282	NM_000308.4(CTSA):c.692+9T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2916570	NM_000308.4(CTSA):c.1089-15G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2915328	NM_000308.4(CTSA):c.1255-4G>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2913827	NM_000308.4(CTSA):c.15G>A (p.Ala5=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2913528	NM_000308.4(CTSA):c.378G>C (p.Leu126=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2913059	NM_000308.4(CTSA):c.798C>T (p.Ile266=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase +1 more	GLikely benign
Select item 2912759	NM_000308.4(CTSA):c.1165-15C>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2912177	NM_000308.4(CTSA):c.1293G>A (p.Gly431=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2910868	NM_000308.4(CTSA):c.445-7T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2909629	NM_000308.4(CTSA):c.358-20A>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2908017	NM_000308.4(CTSA):c.-10G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2905670	NM_000308.4(CTSA):c.729A>G (p.Gln243=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2901872	NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)	CTSA (Q338* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 2901212	NM_000308.4(CTSA):c.869+12T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2900518	NM_000308.4(CTSA):c.778-8C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2899655	NM_000308.4(CTSA):c.870-6T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2896663	NM_000308.4(CTSA):c.1359+12del	CTSA	Deletion (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2896108	NM_000308.4(CTSA):c.778-18C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2895425	NM_000308.4(CTSA):c.294T>C (p.His98=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2894217	NM_000308.4(CTSA):c.601-8T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2891203	NM_000308.4(CTSA):c.1165-12A>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2888905	NM_000308.4(CTSA):c.31_34del (p.Leu11fs)	CTSA (L11fs)	Deletion (frameshift variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 2888688	NM_000308.4(CTSA):c.358-5T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2887472	NM_000308.4(CTSA):c.474A>G (p.Gln158=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2887209	NM_000308.4(CTSA):c.-1+9G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2887021	NM_000308.4(CTSA):c.1360-16G>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2886861	NM_000308.4(CTSA):c.52C>T (p.Leu18=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2885555	NM_000308.4(CTSA):c.1362C>T (p.Gly454=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2883166	NM_000308.4(CTSA):c.1360-9G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2882412	NM_000308.4(CTSA):c.1089-6C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2882408	NM_000308.4(CTSA):c.445-4C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2882134	NM_000308.4(CTSA):c.1383C>G (p.Thr461=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2881241	NM_000308.4(CTSA):c.258C>T (p.Pro86=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2880988	NM_000308.4(CTSA):c.1-11G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2880031	NM_000308.4(CTSA):c.-40C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2879758	NM_000308.4(CTSA):c.708C>A (p.Leu236=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2879289	NM_000308.4(CTSA):c.-31T>C	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2878477	NM_000308.4(CTSA):c.1-6C>T	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2874953	NM_000308.4(CTSA):c.358-4_358-3del	CTSA	Microsatellite (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2874819	NM_000308.4(CTSA):c.306+14A>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2870774	NM_000308.4(CTSA):c.882C>T (p.Asp294=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2869304	NM_000308.4(CTSA):c.445-14T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2869206	NM_000308.4(CTSA):c.1-7C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2867696	NM_000308.4(CTSA):c.999C>T (p.Asn333=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2865715	NM_000308.4(CTSA):c.1360-7T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2861312	NM_000308.4(CTSA):c.778-19G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2861230	NM_000308.4(CTSA):c.870-10C>G	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2859482	NM_000308.4(CTSA):c.708C>G (p.Leu236=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2858282	NM_000308.4(CTSA):c.444+15T>C	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2857306	NM_000308.4(CTSA):c.948+13G>A	CTSA	Single nucleotide variant (intron variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2856148	NM_000308.4(CTSA):c.489C>T (p.Leu163=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign
Select item 2855775	NM_000308.4(CTSA):c.1074A>G (p.Gln358=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GLikely benign

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