ClinVar for MedGen (Select 11313) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 715

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366799	NC_000005.9:g.(?_73981057)_(73992932_74001043)del	HEXB	Deletion	Sandhoff disease	GPathogenic
Select item 3339166	NM_000521.4(HEXB):c.1529_1550dup (p.Lys517_Asp518insTer)	HEXB	Duplication (nonsense +1 more)	Sandhoff disease	GPathogenic
Select item 3246290	NC_000005.9:g.(?_74001024)_(74014816_?)del	HEXB	Deletion	Sandhoff disease	GPathogenic
Select item 3246289	NC_000005.9:g.(?_73992498)_(73992951_?)del	HEXB	Deletion	Sandhoff disease	GPathogenic
Select item 3246287	NC_000005.9:g.(?_73980960)_(74001165_?)del	HEXB	Deletion	Sandhoff disease	GPathogenic
Select item 3242562	NM_000521.4(HEXB):c.1552del (p.Asp518fs)	HEXB (D293fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GPathogenic
Select item 3234956	NM_000521.4(HEXB):c.197C>T (p.Thr66Ile)	HEXB (T66I)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 3023739	NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)	HEXB (E288fs +1 more)	Duplication (frameshift variant)	Sandhoff disease	GPathogenic
Select item 3021535	NM_000521.4(HEXB):c.511+14A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 3021036	NM_000521.4(HEXB):c.675C>T (p.Ala225=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 3020941	NM_000521.4(HEXB):c.1243-18A>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 3019697	NM_000521.4(HEXB):c.558+18_558+19del	HEXB	Microsatellite (intron variant)	Sandhoff disease	GLikely benign
Select item 3018339	NM_000521.4(HEXB):c.772-12T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 3016254	NM_000521.4(HEXB):c.1613+13_1613+15del	HEXB	Deletion (intron variant)	Sandhoff disease	GLikely benign
Select item 3015361	NM_000521.4(HEXB):c.1534A>C (p.Arg512=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 3015069	NM_000521.4(HEXB):c.828A>G (p.Glu276=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 3011258	NM_000521.4(HEXB):c.445+11A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 3010478	NM_000521.4(HEXB):c.90G>A (p.Leu30=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 3009263	NM_000521.4(HEXB):c.1155T>C (p.Ser385=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 3007483	NM_000521.4(HEXB):c.1417+19C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 3007481	NM_000521.4(HEXB):c.987A>G (p.Thr329=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 3007185	NM_000521.4(HEXB):c.901+11G>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 3006255	NM_000521.4(HEXB):c.892del (p.Trp298fs)	HEXB (W73fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GPathogenic
Select item 3003961	NM_000521.4(HEXB):c.771+8A>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2997580	NM_000521.4(HEXB):c.299+17C>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2997498	NM_000521.4(HEXB):c.72G>A (p.Ala24=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2996138	NM_000521.4(HEXB):c.1509-12T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2995289	NM_000521.4(HEXB):c.1613+19C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2991487	NM_000521.4(HEXB):c.109G>T (p.Val37Leu)	HEXB (V37L)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2988833	NM_000521.4(HEXB):c.901+7A>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2983715	NM_000521.4(HEXB):c.1509-18G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2983710	NM_000521.4(HEXB):c.512-12T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2979056	NM_000521.4(HEXB):c.1170-5A>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2976578	NM_000521.4(HEXB):c.559-11T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2975014	NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)	HEXB (W235* +1 more)	Single nucleotide variant (nonsense)	Sandhoff disease	GPathogenic
Select item 2974593	NM_000521.4(HEXB):c.300-20T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2971939	NM_000521.4(HEXB):c.1614-19_1614-18del	HEXB	Deletion (intron variant)	Sandhoff disease	GLikely benign
Select item 2966912	NM_000521.4(HEXB):c.1083-15C>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2959404	NM_000521.4(HEXB):c.255C>T (p.Ser85=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2959304	NM_000521.4(HEXB):c.1418-13G>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2958276	NM_000521.4(HEXB):c.946T>C (p.Leu316=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2955483	NM_000521.4(HEXB):c.771+20C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2954584	NM_000521.4(HEXB):c.1170-11T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2920151	NM_000521.4(HEXB):c.147G>A (p.Ser49=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2918626	NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)	HEXB (A300T +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GUncertain significance
Select item 2917879	NM_000521.4(HEXB):c.445+12T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2915290	NM_000521.4(HEXB):c.1170-11del	HEXB	Deletion (intron variant)	Sandhoff disease	GBenign
Select item 2914881	NM_000521.4(HEXB):c.102G>T (p.Ala34=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2914737	NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)	HEXB (A495fs +1 more)	Duplication (frameshift variant)	Sandhoff disease	GPathogenic
Select item 2910535	NM_000521.4(HEXB):c.1418-16A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2909747	NM_000521.4(HEXB):c.511+7T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2908018	NM_000521.4(HEXB):c.1170-18A>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2902766	NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)	HEXB (W11* +1 more)	Single nucleotide variant (nonsense)	Sandhoff disease	GPathogenic
Select item 2902393	NM_000521.4(HEXB):c.299+18G>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2901665	NM_000521.4(HEXB):c.1614-6C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2901360	NM_000521.4(HEXB):c.511+16T>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2898611	NM_000521.4(HEXB):c.1508+11T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2898134	NM_000521.4(HEXB):c.1418-15A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2897975	NM_000521.4(HEXB):c.1242+18T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2896577	NM_000521.4(HEXB):c.1170-17T>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2895514	NM_000521.4(HEXB):c.558+19T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2894145	NM_000521.4(HEXB):c.512-18A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2893381	NM_000521.4(HEXB):c.9G>T (p.Leu3=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2890001	NM_000521.4(HEXB):c.299+14G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2888669	NM_000521.4(HEXB):c.1243-15T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2888319	NM_000521.4(HEXB):c.1170-18A>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2886627	NM_000521.4(HEXB):c.264C>G (p.Gly88=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2884780	NM_000521.4(HEXB):c.300-18C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2883983	NM_000521.4(HEXB):c.559-18A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2875921	NM_000521.4(HEXB):c.299+17C>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2871874	NM_000521.4(HEXB):c.1508+15T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2871767	NM_000521.4(HEXB):c.446-21_446-14del	HEXB	Deletion (intron variant)	Sandhoff disease	GLikely benign
Select item 2868284	NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)	HEXB (D470fs +1 more)	Insertion (frameshift variant)	Sandhoff disease	GPathogenic
Select item 2868104	NM_000521.4(HEXB):c.1320C>T (p.Gly440=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2865161	NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2863998	NM_000521.4(HEXB):c.1418-15A>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2862037	NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)	HEXB (C309R +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GLikely pathogenic
Select item 2861549	NM_000521.4(HEXB):c.1365C>T (p.Ser455=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2860132	NM_000521.4(HEXB):c.1314A>G (p.Ala438=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2859878	NM_000521.4(HEXB):c.1125C>T (p.Gly375=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2859322	NM_000521.4(HEXB):c.1613+19C>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2856223	NM_000521.4(HEXB):c.1575C>T (p.Ala525=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2850472	NM_000521.4(HEXB):c.477C>T (p.Val159=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2844776	NM_000521.4(HEXB):c.1169+1G>A	HEXB	Single nucleotide variant (splice donor variant)	Sandhoff disease	GLikely pathogenic
Select item 2842586	NM_000521.4(HEXB):c.1243-20G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2839419	NM_000521.4(HEXB):c.1469dup (p.Glu491fs)	HEXB (E266fs +1 more)	Duplication (frameshift variant)	Sandhoff disease	GPathogenic
Select item 2838452	NM_000521.4(HEXB):c.282G>A (p.Leu94=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2837841	NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)	HEXB (P430fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GPathogenic
Select item 2837773	NM_000521.4(HEXB):c.1170-10G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2837223	NM_000521.4(HEXB):c.1613+15_1613+16dup	HEXB	Duplication (intron variant)	Sandhoff disease	GLikely benign
Select item 2836017	NM_000521.4(HEXB):c.1083-12T>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2835885	NM_000521.4(HEXB):c.1635T>G (p.Pro545=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2835335	NM_000521.4(HEXB):c.1169+8G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2833993	NM_000521.4(HEXB):c.1251G>C (p.Pro417=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2832745	NM_000521.4(HEXB):c.1518A>C (p.Ala506=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign
Select item 2832433	NM_000521.4(HEXB):c.445+14C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2832090	NM_000521.4(HEXB):c.669+16A>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2829973	NM_000521.4(HEXB):c.60G>A (p.Ala20=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2829843	NM_000521.4(HEXB):c.670-6T>C	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GLikely benign
Select item 2828795	NM_000521.4(HEXB):c.1617T>A (p.Arg539=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GLikely benign

<< First< Prev

Page of 8