ClinVar for MedGen (Select 11313) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792691.	GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0 GRCh38: Chr5:74695284-74702264	HEXB		Sandhoff disease	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25062162.	NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) GRCh37: Chr5:73992873 GRCh38: Chr5:74697048	HEXB	G204E	Sandhoff disease	Likely pathogenic (May 1, 2023)	criteria provided, single submitter
Select item 24324483.	NM_000521.4(HEXB):c.512G>T (p.Gly171Val) GRCh37: Chr5:73992518 GRCh38: Chr5:74696693	HEXB	G171V	Sandhoff disease	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 24324474.	NM_000521.4(HEXB):c.969C>A (p.Asn323Lys) GRCh37: Chr5:74011402 GRCh38: Chr5:74715577	HEXB	N323K, N98K	Sandhoff disease	Uncertain significance (May 19, 2021)	criteria provided, single submitter
Select item 24324465.	NM_000521.4(HEXB):c.771+985G>A GRCh37: Chr5:74002130 GRCh38: Chr5:74706305	HEXB		Sandhoff disease	Uncertain significance (Sep 18, 2019)	criteria provided, single submitter
Select item 24282846.	NM_000521.4(HEXB):c.79T>C (p.Leu27=) GRCh37: Chr5:73981164 GRCh38: Chr5:74685339	HEXB		Sandhoff disease	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 24280777.	NM_000521.4(HEXB):c.771+14A>G GRCh37: Chr5:74001159 GRCh38: Chr5:74705334	HEXB		Sandhoff disease	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 24232028.	NC_000005.9:g.(?_73980960)_(74041702_?)del GRCh37: Chr5:73980960-74041702	GFM2, HEXB		Sandhoff disease	Pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 24232019.	NC_000005.9:g.(?_73978914)_(73981242_?)del GRCh37: Chr5:73978914-73981242	HEXB		Sandhoff disease	Pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 242320010.	NC_000005.9:g.(?_73980960)_(75008762_?)dup GRCh37: Chr5:73980960-75008762	ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK		not provided, Sandhoff disease	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 242319911.	NC_000005.9:g.(?_73981076)_(73981394_?)del GRCh37: Chr5:73981076-73981394	HEXB		Sandhoff disease	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 242030212.	NM_000521.4(HEXB):c.1509-20A>T GRCh37: Chr5:74016448 GRCh38: Chr5:74720623	HEXB		Sandhoff disease	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 241669113.	NM_000521.4(HEXB):c.147G>C (p.Ser49=) GRCh37: Chr5:73981232 GRCh38: Chr5:74685407	HEXB		Sandhoff disease	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 220365914.	NM_000521.4(HEXB):c.534_537del (p.Leu178fs) GRCh37: Chr5:73992536-73992539 GRCh38: Chr5:74696711-74696714	HEXB	L178fs	Sandhoff disease	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 220203815.	NM_000521.4(HEXB):c.1398G>A (p.Val466=) GRCh37: Chr5:74014777 GRCh38: Chr5:74718952	HEXB		Sandhoff disease	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 220182816.	NM_000521.4(HEXB):c.1066G>A (p.Val356Met) GRCh37: Chr5:74011499 GRCh38: Chr5:74715674	HEXB	V131M, V356M	Sandhoff disease	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 220125717.	NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly) GRCh37: Chr5:74016562 GRCh38: Chr5:74720737	HEXB	R535G, R310G	Sandhoff disease	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 220021018.	NM_000521.4(HEXB):c.710A>G (p.His237Arg) GRCh37: Chr5:74001084 GRCh38: Chr5:74705259	HEXB	H12R, H237R	Sandhoff disease	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 219747819.	NM_000521.4(HEXB):c.164C>T (p.Ala55Val) GRCh37: Chr5:73981249 GRCh38: Chr5:74685424	HEXB	A55V	Sandhoff disease, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jan 11, 2023)	criteria provided, conflicting interpretations
Select item 219280820.	NM_000521.4(HEXB):c.1416C>T (p.Gly472=) GRCh37: Chr5:74014795 GRCh38: Chr5:74718970	HEXB		Sandhoff disease	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 219113521.	NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys) GRCh37: Chr5:73992545 GRCh38: Chr5:74696720	HEXB	Y180C	Sandhoff disease	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 218983322.	NM_000521.4(HEXB):c.130C>T (p.Arg44Trp) GRCh37: Chr5:73981215 GRCh38: Chr5:74685390	HEXB	R44W	Sandhoff disease	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 218980923.	NM_000521.4(HEXB):c.236T>C (p.Ile79Thr) GRCh37: Chr5:73981321 GRCh38: Chr5:74685496	HEXB	I79T	Sandhoff disease	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 218753924.	NM_000521.4(HEXB):c.221C>G (p.Pro74Arg) GRCh37: Chr5:73981306 GRCh38: Chr5:74685481	HEXB	P74R	Sandhoff disease	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 218704325.	NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly) GRCh37: Chr5:74016307 GRCh38: Chr5:74720482	HEXB	E266G, E491G	Sandhoff disease	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 218411226.	NM_000521.4(HEXB):c.1048C>G (p.His350Asp) GRCh37: Chr5:74011481 GRCh38: Chr5:74715656	HEXB	H350D, H125D	Sandhoff disease	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217856227.	NM_000521.4(HEXB):c.234C>T (p.Tyr78=) GRCh37: Chr5:73981319 GRCh38: Chr5:74685494	HEXB		Sandhoff disease	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 217514828.	NM_000521.4(HEXB):c.20G>A (p.Gly7Glu) GRCh37: Chr5:73981105 GRCh38: Chr5:74685280	HEXB	G7E	Sandhoff disease	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 216778229.	NM_000521.4(HEXB):c.488A>G (p.Asn163Ser) GRCh37: Chr5:73989506 GRCh38: Chr5:74693681	HEXB	N163S	Sandhoff disease	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 216696930.	NM_000521.4(HEXB):c.1276G>C (p.Asp426His) GRCh37: Chr5:74014655 GRCh38: Chr5:74718830	HEXB	D426H, D201H	Sandhoff disease	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 216555431.	NM_000521.4(HEXB):c.333G>C (p.Trp111Cys) GRCh37: Chr5:73985186 GRCh38: Chr5:74689361	HEXB	W111C	Sandhoff disease	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 216198232.	NM_000521.4(HEXB):c.321T>A (p.Gly107=) GRCh37: Chr5:73985174 GRCh38: Chr5:74689349	HEXB		Sandhoff disease	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 216157133.	NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn) GRCh37: Chr5:74014655 GRCh38: Chr5:74718830	HEXB	D201N, D426N	Sandhoff disease, Inborn genetic diseases	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 216104834.	NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter) GRCh37: Chr5:74016974 GRCh38: Chr5:74721149	HEXB	G549, G324	Sandhoff disease	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 216102435.	NM_000521.4(HEXB):c.444T>G (p.Ser148=) GRCh37: Chr5:73985297 GRCh38: Chr5:74689472	HEXB		Sandhoff disease	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 216086636.	NM_000521.4(HEXB):c.250A>C (p.Asn84His) GRCh37: Chr5:73981335 GRCh38: Chr5:74685510	HEXB	N84H	Sandhoff disease	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 216004037.	NM_000521.4(HEXB):c.565A>G (p.Ile189Val) GRCh37: Chr5:73992827 GRCh38: Chr5:74697002	HEXB	I189V	Sandhoff disease	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215871638.	NM_000521.4(HEXB):c.811G>A (p.Val271Ile) GRCh37: Chr5:74009370 GRCh38: Chr5:74713545	HEXB	V46I, V271I	Sandhoff disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215780039.	NM_000521.4(HEXB):c.269C>G (p.Ser90Cys) GRCh37: Chr5:73981354 GRCh38: Chr5:74685529	HEXB	S90C	Sandhoff disease	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 215632040.	NM_000521.4(HEXB):c.867T>A (p.Phe289Leu) GRCh37: Chr5:74009426 GRCh38: Chr5:74713601	HEXB	F289L, F64L	Sandhoff disease	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 215603541.	NM_000521.4(HEXB):c.1508+6G>C GRCh37: Chr5:74016349 GRCh38: Chr5:74720524	HEXB		Sandhoff disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215529142.	NM_000521.4(HEXB):c.1335T>G (p.Leu445=) GRCh37: Chr5:74014714 GRCh38: Chr5:74718889	HEXB		Sandhoff disease	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 215353143.	NM_000521.4(HEXB):c.770A>C (p.Lys257Thr) GRCh37: Chr5:74001144 GRCh38: Chr5:74705319	HEXB	K32T, K257T	Sandhoff disease	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 215351644.	NM_000521.4(HEXB):c.771+10T>C GRCh37: Chr5:74001155 GRCh38: Chr5:74705330	HEXB		Sandhoff disease	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 215063845.	NM_000521.4(HEXB):c.120G>A (p.Ala40=) GRCh37: Chr5:73981205 GRCh38: Chr5:74685380	HEXB		Sandhoff disease	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 215011046.	NM_000521.4(HEXB):c.1134A>G (p.Thr378=) GRCh37: Chr5:74012463 GRCh38: Chr5:74716638	HEXB		Sandhoff disease	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 214722647.	NM_000521.4(HEXB):c.425A>G (p.Asn142Ser) GRCh37: Chr5:73985278 GRCh38: Chr5:74689453	HEXB	N142S	Sandhoff disease	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214614648.	NM_000521.4(HEXB):c.219C>A (p.Ala73=) GRCh37: Chr5:73981304 GRCh38: Chr5:74685479	HEXB		Sandhoff disease	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 214423349.	NM_000521.4(HEXB):c.1104A>C (p.Gln368His) GRCh37: Chr5:74012433 GRCh38: Chr5:74716608	HEXB	Q143H, Q368H	Sandhoff disease, Inborn genetic diseases	Uncertain significance (Jan 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214332050.	NM_000521.4(HEXB):c.387C>G (p.Val129=) GRCh37: Chr5:73985240 GRCh38: Chr5:74689415	HEXB		Sandhoff disease	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 214308951.	NM_000521.4(HEXB):c.261G>A (p.Ala87=) GRCh37: Chr5:73981346 GRCh38: Chr5:74685521	HEXB		Sandhoff disease	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 214287952.	NM_000521.4(HEXB):c.118G>T (p.Ala40Ser) GRCh37: Chr5:73981203 GRCh38: Chr5:74685378	HEXB	A40S	Sandhoff disease	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 214287653.	NM_000521.4(HEXB):c.1613+17G>T GRCh37: Chr5:74016589 GRCh38: Chr5:74720764	HEXB		Sandhoff disease	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 214222754.	NM_000521.4(HEXB):c.495T>C (p.Val165=) GRCh37: Chr5:73989513 GRCh38: Chr5:74693688	HEXB		Sandhoff disease	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 214045255.	NM_000521.4(HEXB):c.1284A>G (p.Ala428=) GRCh37: Chr5:74014663 GRCh38: Chr5:74718838	HEXB		Sandhoff disease	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 213901556.	NM_000521.4(HEXB):c.289G>A (p.Ala97Thr) GRCh37: Chr5:73981374 GRCh38: Chr5:74685549	HEXB	A97T	Sandhoff disease	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 213515157.	NM_000521.4(HEXB):c.790C>T (p.His264Tyr) GRCh37: Chr5:74009349 GRCh38: Chr5:74713524	HEXB	H264Y, H39Y	Sandhoff disease	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 212759258.	NM_000521.4(HEXB):c.50T>A (p.Leu17Gln) GRCh37: Chr5:73981135 GRCh38: Chr5:74685310	HEXB	L17Q	Sandhoff disease	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 212704459.	NM_000521.4(HEXB):c.801A>G (p.Thr267=) GRCh37: Chr5:74009360 GRCh38: Chr5:74713535	HEXB		Sandhoff disease	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212559460.	NM_000521.4(HEXB):c.522C>A (p.Thr174=) GRCh37: Chr5:73992528 GRCh38: Chr5:74696703	HEXB		Sandhoff disease	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212542061.	NM_000521.4(HEXB):c.810T>C (p.Asp270=) GRCh37: Chr5:74009369 GRCh38: Chr5:74713544	HEXB		Sandhoff disease	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212508762.	NM_000521.4(HEXB):c.1243-9C>A GRCh37: Chr5:74014613 GRCh38: Chr5:74718788	HEXB		Sandhoff disease	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212479763.	NM_000521.4(HEXB):c.1082+7T>C GRCh37: Chr5:74011522 GRCh38: Chr5:74715697	HEXB		Sandhoff disease	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212391264.	NM_000521.4(HEXB):c.680C>A (p.Ala227Asp) GRCh37: Chr5:74001054 GRCh38: Chr5:74705229	HEXB	A227D, A2D	Sandhoff disease	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 211933865.	NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs) GRCh37: Chr5:74016266-74016267 GRCh38: Chr5:74720441-74720442	HEXB	L480fs, L255fs	Sandhoff disease	Pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 211813466.	NM_000521.4(HEXB):c.117G>T (p.Val39=) GRCh37: Chr5:73981202 GRCh38: Chr5:74685377	HEXB		Sandhoff disease, not provided	Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 211799067.	NM_000521.4(HEXB):c.445+8C>T GRCh37: Chr5:73985306 GRCh38: Chr5:74689481	HEXB		Sandhoff disease	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211598368.	NM_000521.4(HEXB):c.924A>C (p.Pro308=) GRCh37: Chr5:74011357 GRCh38: Chr5:74715532	HEXB		Sandhoff disease	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211555969.	NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe) GRCh37: Chr5:74011486 GRCh38: Chr5:74715661	HEXB	L351F, L126F	Sandhoff disease	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 211143870.	NM_000521.4(HEXB):c.1605G>A (p.Arg535=) GRCh37: Chr5:74016564 GRCh38: Chr5:74720739	HEXB		Sandhoff disease	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 210962271.	NM_000521.4(HEXB):c.1614-9T>C GRCh37: Chr5:74016934 GRCh38: Chr5:74721109	HEXB		Sandhoff disease	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 210634872.	NM_000521.4(HEXB):c.15G>T (p.Gly5=) GRCh37: Chr5:73981100 GRCh38: Chr5:74685275	HEXB		Sandhoff disease	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210498073.	NM_000521.4(HEXB):c.1242+9dup GRCh37: Chr5:74014195-74014196 GRCh38: Chr5:74718370-74718371	HEXB		Sandhoff disease	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 209455874.	NM_000521.4(HEXB):c.1593G>A (p.Arg531=) GRCh37: Chr5:74016552 GRCh38: Chr5:74720727	HEXB		Sandhoff disease	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 208999175.	NM_000521.4(HEXB):c.758del (p.Glu253fs) GRCh37: Chr5:74001132 GRCh38: Chr5:74705307	HEXB	E253fs, E28fs	Sandhoff disease	Pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 208588576.	NM_000521.4(HEXB):c.817A>G (p.Met273Val) GRCh37: Chr5:74009376 GRCh38: Chr5:74713551	HEXB	M273V, M48V	Sandhoff disease	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 208403277.	NM_000521.4(HEXB):c.446-4A>G GRCh37: Chr5:73989460 GRCh38: Chr5:74693635	HEXB		Sandhoff disease	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 208047278.	NM_000521.4(HEXB):c.181C>T (p.Leu61Phe) GRCh37: Chr5:73981266 GRCh38: Chr5:74685441	HEXB	L61F	Sandhoff disease	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 207689279.	NM_000521.4(HEXB):c.824T>C (p.Ile275Thr) GRCh37: Chr5:74009383 GRCh38: Chr5:74713558	HEXB	I50T, I275T	Sandhoff disease	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 206975880.	NM_001292004.2(HEXB):c.-376-4189C>T GRCh37: Chr5:73980964 GRCh38: Chr5:74685139	HEXB		Sandhoff disease	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 206909181.	NM_000521.4(HEXB):c.1509-8A>T GRCh37: Chr5:74016460 GRCh38: Chr5:74720635	HEXB		Sandhoff disease	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 206058882.	NM_000521.4(HEXB):c.160C>T (p.Pro54Ser) GRCh37: Chr5:73981245 GRCh38: Chr5:74685420	HEXB	P54S	Sandhoff disease	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 205735583.	NM_000521.4(HEXB):c.559-1G>A GRCh37: Chr5:73992820 GRCh38: Chr5:74696995	HEXB		Sandhoff disease	Likely pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 204783384.	NM_000521.4(HEXB):c.1169+5G>C GRCh37: Chr5:74012503 GRCh38: Chr5:74716678	HEXB		Sandhoff disease	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204764885.	NM_000521.4(HEXB):c.592C>T (p.Pro198Ser) GRCh37: Chr5:73992854 GRCh38: Chr5:74697029	HEXB	P198S	Sandhoff disease, Inborn genetic diseases	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204555886.	NM_000521.4(HEXB):c.922C>G (p.Pro308Ala) GRCh37: Chr5:74011355 GRCh38: Chr5:74715530	HEXB	P83A, P308A	Sandhoff disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 203554487.	NM_000521.4(HEXB):c.300-4dup GRCh37: Chr5:73985146-73985147 GRCh38: Chr5:74689321-74689322	HEXB		Sandhoff disease	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203308488.	NM_000521.4(HEXB):c.1473A>G (p.Glu491=) GRCh37: Chr5:74016308 GRCh38: Chr5:74720483	HEXB		Sandhoff disease	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203308389.	NM_000521.4(HEXB):c.408G>A (p.Glu136=) GRCh37: Chr5:73985261 GRCh38: Chr5:74689436	HEXB		Sandhoff disease	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203236090.	NM_000521.4(HEXB):c.516A>G (p.Leu172=) GRCh37: Chr5:73992522 GRCh38: Chr5:74696697	HEXB		Sandhoff disease	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 203119191.	NM_000521.4(HEXB):c.1050T>C (p.His350=) GRCh37: Chr5:74011483 GRCh38: Chr5:74715658	HEXB		Sandhoff disease	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 202892792.	NM_000521.4(HEXB):c.165G>T (p.Ala55=) GRCh37: Chr5:73981250 GRCh38: Chr5:74685425	HEXB		Sandhoff disease	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 202708993.	NM_000521.4(HEXB):c.21G>A (p.Gly7=) GRCh37: Chr5:73981106 GRCh38: Chr5:74685281	HEXB		Sandhoff disease	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 202642094.	NM_000521.4(HEXB):c.1653T>C (p.Cys551=) GRCh37: Chr5:74016982 GRCh38: Chr5:74721157	HEXB		Sandhoff disease	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202640895.	NM_000521.4(HEXB):c.875dup (p.Gly293fs) GRCh37: Chr5:74009430-74009431 GRCh38: Chr5:74713605-74713606	HEXB	G68fs, G293fs	Sandhoff disease	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 202521496.	NM_000521.4(HEXB):c.1464A>G (p.Leu488=) GRCh37: Chr5:74016299 GRCh38: Chr5:74720474	HEXB		Sandhoff disease	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202504097.	NM_000521.4(HEXB):c.52C>T (p.Leu18=) GRCh37: Chr5:73981137 GRCh38: Chr5:74685312	HEXB		Sandhoff disease	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 202307598.	NM_000521.4(HEXB):c.1509-10T>C GRCh37: Chr5:74016458 GRCh38: Chr5:74720633	HEXB		Sandhoff disease	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202276499.	NM_000521.4(HEXB):c.937C>T (p.Gln313Ter) GRCh37: Chr5:74011370 GRCh38: Chr5:74715545	HEXB	Q313, Q88	Sandhoff disease	Pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 2019677100.	NM_000521.4(HEXB):c.858G>T (p.Leu286=) GRCh37: Chr5:74009417 GRCh38: Chr5:74713592	HEXB		Sandhoff disease	Likely benign (Jul 25, 2022)	criteria provided, single submitter

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