ClinVar for MedGen (Select 11713) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065512	NM_000520.6(HEXA):c.1478T>C (p.Leu493Pro)	HEXA (L493P +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 3023149	NM_000520.6(HEXA):c.1536C>G (p.Val512=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 3020963	NM_000520.6(HEXA):c.1422-14C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 3020542	NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)	HEXA (T297fs +1 more)	Insertion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 3019914	NM_000520.6(HEXA):c.1421+19del	HEXA	Deletion (intron variant)	Tay-Sachs disease	GBenign
Select item 3018204	NM_000520.6(HEXA):c.576C>T (p.Val192=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 3016152	NM_000520.6(HEXA):c.253+7C>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 3014373	NM_000520.6(HEXA):c.986+20C>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 3014309	NM_000520.6(HEXA):c.1421+19G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 3003498	NM_000520.6(HEXA):c.939A>G (p.Pro313=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2999107	NM_000520.6(HEXA):c.571-19T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2997528	NM_000520.6(HEXA):c.1421+19G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2996955	NM_000520.6(HEXA):c.673-7C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2989651	NM_000520.6(HEXA):c.1527-18C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2989287	NM_000520.6(HEXA):c.162G>T (p.Ala54=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2988264	NM_000520.6(HEXA):c.346+8C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2985186	NM_000520.6(HEXA):c.460-18A>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2966541	NM_000520.6(HEXA):c.1147-14A>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2965563	NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)	HEXA (D333G +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 2964789	NM_000520.6(HEXA):c.1421+7G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2963344	NM_000520.6(HEXA):c.1182G>A (p.Glu394=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2963042	NM_000520.6(HEXA):c.1330+15C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2962390	NM_000520.6(HEXA):c.673-11G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2958297	NM_000520.6(HEXA):c.222T>G (p.Gly74=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2955485	NM_000520.6(HEXA):c.254-20A>G	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2918430	NM_000520.6(HEXA):c.27G>T (p.Ser9=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2917881	NM_000520.6(HEXA):c.1347G>A (p.Lys449=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2916092	NM_000520.6(HEXA):c.1122G>A (p.Gln374=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2916034	NM_000520.6(HEXA):c.570+16G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2915405	NM_000520.6(HEXA):c.1421+16G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2914532	NM_000520.6(HEXA):c.672+1G>T	HEXA	Single nucleotide variant (splice donor variant)	Tay-Sachs disease	GPathogenic
Select item 2913354	NM_000520.6(HEXA):c.1278C>T (p.Ser426=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2912841	NM_000520.6(HEXA):c.1147-13C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2912596	NM_000520.6(HEXA):c.570+7A>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2910381	NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)	HEXA (F355S +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 2904227	NM_000520.6(HEXA):c.254-15A>T	HEXA (Y91F)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2903868	NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)	HEXA (P283L +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GUncertain significance
Select item 2901663	NM_000520.6(HEXA):c.228G>T (p.Gly76=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2901105	NM_000520.6(HEXA):c.412+18A>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2900361	NM_000520.6(HEXA):c.1473T>G (p.Ser491=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2900176	NM_000520.6(HEXA):c.413-12A>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2896595	NM_000520.6(HEXA):c.1074-17A>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2895307	NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)	HEXA (T398fs +1 more)	Microsatellite (frameshift variant)	Tay-Sachs disease	GPathogenic
Select item 2893397	NM_000520.6(HEXA):c.346+18C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2882895	NM_000520.6(HEXA):c.1331-19G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2880175	NM_000520.6(HEXA):c.570+11C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2874384	NM_000520.6(HEXA):c.253+5G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GUncertain significance
Select item 2870454	NM_000520.6(HEXA):c.31C>T (p.Leu11=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2869789	NM_000520.6(HEXA):c.412+17G>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2866173	NM_000520.6(HEXA):c.702C>T (p.Tyr234=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2865040	NM_000520.6(HEXA):c.1527-10C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2855480	NM_000520.6(HEXA):c.541C>T (p.Leu181=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2854169	NM_000520.6(HEXA):c.986+10C>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2852631	NM_000520.6(HEXA):c.412+14G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2850218	NM_000520.6(HEXA):c.1331-5C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2849071	NM_000520.6(HEXA):c.253+14G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2849055	NM_000520.6(HEXA):c.672+8C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2848729	NM_000520.6(HEXA):c.1371T>G (p.Ala457=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2847587	NM_000520.6(HEXA):c.1331-19G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2843133	NM_000520.6(HEXA):c.254-10G>T	HEXA (V93F)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2839633	NM_000520.6(HEXA):c.1146+8G>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2837025	NM_000520.6(HEXA):c.1364del (p.Gly455fs)	HEXA (G466fs +1 more)	Deletion (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 2836271	NM_000520.6(HEXA):c.107dup (p.Tyr37fs)	HEXA (Y37fs)	Duplication (frameshift variant +1 more)	Tay-Sachs disease	GPathogenic
Select item 2835602	NM_000520.6(HEXA):c.753C>T (p.Ile251=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2831961	NM_000520.6(HEXA):c.1335C>A (p.Thr445=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2829890	NM_000520.6(HEXA):c.3G>T (p.Met1Ile)	HEXA (M1I)	Single nucleotide variant (missense variant +2 more)	Tay-Sachs disease	GPathogenic
Select item 2827994	NM_000520.6(HEXA):c.1074-19A>G	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2827192	NM_000520.6(HEXA):c.1074-20G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2824436	NM_000520.6(HEXA):c.253+20C>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2824079	NM_000520.6(HEXA):c.460-2A>G	HEXA	Single nucleotide variant (splice acceptor variant)	Tay-Sachs disease	GPathogenic
Select item 2823524	NM_000520.6(HEXA):c.147T>C (p.Asp49=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2821799	NM_000520.6(HEXA):c.720G>A (p.Lys240=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2820365	NM_000520.6(HEXA):c.459+13_459+14del	HEXA	Deletion (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2820034	NM_000520.6(HEXA):c.861T>C (p.Phe287=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2818707	NM_000520.6(HEXA):c.54A>G (p.Gly18=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2818181	NM_000520.6(HEXA):c.805+14C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2814391	NM_000520.6(HEXA):c.1526+14G>A	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2814087	NM_000520.6(HEXA):c.673-11G>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2812303	NM_000520.6(HEXA):c.254-12C>G	HEXA (P92R)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2811579	NM_000520.6(HEXA):c.849C>A (p.Pro283=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2810919	NM_000520.6(HEXA):c.1362T>C (p.Gly454=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2810898	NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)	HEXA (Q357* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 2805525	NM_000520.6(HEXA):c.1422-6C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2791209	NM_000520.6(HEXA):c.1331-4T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2788439	NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)	HEXA (Y224C +1 more)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 2788035	NM_000520.6(HEXA):c.1533T>G (p.Gly511=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2782660	NM_000520.6(HEXA):c.36G>A (p.Leu12=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2781739	NM_000520.6(HEXA):c.254-1G>C	HEXA (G96R)	Single nucleotide variant (missense variant +1 more)	Tay-Sachs disease	GLikely pathogenic
Select item 2781584	NM_000520.6(HEXA):c.1526+20T>G	HEXA	Single nucleotide variant (non-coding transcript variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2780956	NM_000520.6(HEXA):c.195C>T (p.Phe65=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2777927	NM_000520.6(HEXA):c.460-10T>C	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2772910	NM_000520.6(HEXA):c.1164C>T (p.Ile388=)	HEXA	Single nucleotide variant (synonymous variant)	Tay-Sachs disease	GLikely benign
Select item 2772286	NM_000520.6(HEXA):c.571-7C>T	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2764269	NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)	HEXA (W277* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 2763538	NM_000520.6(HEXA):c.165G>A (p.Gln55=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2763203	NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)	HEXA (W147* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 2762385	NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)	HEXA (Y289* +1 more)	Single nucleotide variant (nonsense +1 more)	Tay-Sachs disease	GPathogenic
Select item 2762238	NM_000520.6(HEXA):c.412+16T>A	HEXA	Single nucleotide variant (intron variant)	Tay-Sachs disease	GLikely benign
Select item 2760228	NM_000520.6(HEXA):c.63G>A (p.Thr21=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign
Select item 2758416	NM_000520.6(HEXA):c.225C>G (p.Ser75=)	HEXA	Single nucleotide variant (synonymous variant +1 more)	Tay-Sachs disease	GLikely benign

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