3074[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 3883	NC_000005.10:g.(?_74640023)_(74705321_74713505)del	ENC1, HEXB +7 more	Deletion	Sandhoff disease, infantile form	GPathogenic
Select item 680593	NM_001292004.2(HEXB):c.-376-4450A>T	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680595	NM_001292004.2(HEXB):c.-376-4449T>G	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680596	NM_001292004.2(HEXB):c.-376-4354G>C	HEXB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275326	NM_000521.4(HEXB):c.-175G>A	HEXB	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 369506	NM_000521.4(HEXB):c.-126C>T	HEXB	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 2069758	NM_001292004.2(HEXB):c.-376-4189C>T	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GUncertain significance
Select item 369507	NM_000521.4(HEXB):c.-122del	HEXB	Deletion (intron variant +1 more)	not provided +1 more	GBenign
Select item 906217	NM_000521.3(HEXB):c.-63G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GUncertain significance
Select item 906218	NM_000521.3(HEXB):c.-62G>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GUncertain significance
Select item 354128	NM_000521.3(HEXB):c.-52C>A	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease	GUncertain significance
Select item 527972	NC_000005.10:g.(?_74685241)_(74697126_?)del	HEXB, LOC129994060 +2 more	Deletion	Sandhoff disease	GPathogenic
Select item 354129	NM_000521.4(HEXB):c.-14G>A	HEXB	Single nucleotide variant (5 prime UTR variant +1 more)	Sandhoff disease	GUncertain significance
Select item 644276	NC_000005.10:g.(?_74685251)_(74697116_?)del	HEXB, LOC129994060 +2 more	Deletion	Sandhoff disease	GPathogenic
Select item 583659	NC_000005.10:g.(?_74685261)_(74697106_?)del	LOC129994062, LOC129994060 +2 more	Deletion	Sandhoff disease	GPathogenic
Select item 1979367	NM_000521.4(HEXB):c.7C>T (p.Leu3=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	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 1619023	NM_000521.4(HEXB):c.12C>T (p.Cys4=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 991044	NM_000521.4(HEXB):c.14G>A (p.Gly5Glu)	HEXB (G5E)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2106348	NM_000521.4(HEXB):c.15G>T (p.Gly5=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 793988	NM_000521.4(HEXB):c.16C>T (p.Leu6=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2175148	NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)	HEXB (G7E)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2027089	NM_000521.4(HEXB):c.21G>A (p.Gly7=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1982906	NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)	HEXB (P11L)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 1089926	NM_000521.4(HEXB):c.33G>T (p.Pro11=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2473883	NM_000521.4(HEXB):c.34C>T (p.Pro12Ser)	HEXB (P12S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1100371	NM_000521.4(HEXB):c.36C>T (p.Pro12=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1097850	NM_000521.4(HEXB):c.42G>C (p.Leu14=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1077435	NM_000521.4(HEXB):c.42G>T (p.Leu14=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 792247	NM_000521.4(HEXB):c.42G>A (p.Leu14=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2127592	NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)	HEXB (L17Q)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2025040	NM_000521.4(HEXB):c.52C>T (p.Leu18=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1659546	NM_000521.4(HEXB):c.55T>C (p.Leu19=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 558245	NM_000521.4(HEXB):c.56del (p.Leu19fs)	HEXB (L19fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 556033	NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 558240	NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 967177	NM_000521.4(HEXB):c.59C>A (p.Ala20Glu)	HEXB (A20E)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
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 1937452	NM_000521.4(HEXB):c.63A>G (p.Thr21=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2803412	NM_000521.4(HEXB):c.64C>T (p.Leu22=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 860680	NM_000521.4(HEXB):c.64_65del (p.Leu22fs)	HEXB (L22fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GPathogenic
Select item 558194	NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 1639762	NM_000521.4(HEXB):c.66G>A (p.Leu22=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 551537	NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)	HEXB	Deletion (inframe_deletion +1 more)	Sandhoff disease	GUncertain significance
Select item 1130220	NM_000521.4(HEXB):c.69G>T (p.Leu23=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 762762	NM_000521.4(HEXB):c.69G>A (p.Leu23=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 1581777	NM_000521.4(HEXB):c.75G>A (p.Ala25=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 3886	NM_000521.4(HEXB):c.76del (p.Met26fs)	HEXB (M26fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GPathogenic
Select item 354130	NM_000521.4(HEXB):c.78G>A (p.Met26Ile)	HEXB (M26I)	Single nucleotide variant (intron variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2428284	NM_000521.4(HEXB):c.79T>C (p.Leu27=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 550054	NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)	HEXB	Deletion (intron variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2738977	NM_000521.4(HEXB):c.81G>A (p.Leu27=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	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 1557976	NM_000521.4(HEXB):c.93T>C (p.Thr31=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 800874	NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)	HEXB (Q32*)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GPathogenic
Select item 1993858	NM_000521.4(HEXB):c.96G>C (p.Gln32His)	HEXB (Q32H)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
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 1160208	NM_000521.4(HEXB):c.108G>A (p.Val36=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	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 2783770	NM_000521.4(HEXB):c.114G>A (p.Gln38=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 93194	NM_000521.4(HEXB):c.115del (p.Val39fs)	HEXB (V39fs)	Deletion (frameshift variant +1 more)	Sandhoff disease +1 more	GPathogenic
Select item 2118134	NM_000521.4(HEXB):c.117G>T (p.Val39=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 554151	NM_000521.4(HEXB):c.118del (p.Ala40fs)	HEXB (A40fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 2142879	NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)	HEXB (A40S)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 2150638	NM_000521.4(HEXB):c.120G>A (p.Ala40=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1106749	NM_000521.4(HEXB):c.126G>T (p.Ala42=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1082338	NM_000521.4(HEXB):c.126G>A (p.Ala42=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 211144	NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)	HEXB (A43S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2189833	NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)	HEXB (R44W)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 552453	NM_000521.4(HEXB):c.133del (p.Ala45fs)	HEXB (A45fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GLikely pathogenic
Select item 1660812	NM_000521.4(HEXB):c.135C>T (p.Ala45=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1057998	NM_000521.4(HEXB):c.136C>G (p.Pro46Ala)	HEXB (P46A)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 1607833	NM_000521.4(HEXB):c.138G>A (p.Pro46=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1593899	NM_000521.4(HEXB):c.138G>T (p.Pro46=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 555683	NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)	HEXB (S49*)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GPathogenic/Likely pathogenic
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 2416691	NM_000521.4(HEXB):c.147G>C (p.Ser49=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 763563	NM_000521.4(HEXB):c.150C>T (p.Ala50=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 906219	NM_000521.4(HEXB):c.156G>A (p.Pro52=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GConflicting classifications of pathogenicity
Select item 2615365	NM_000521.4(HEXB):c.158G>A (p.Gly53Glu)	HEXB (G53E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1596061	NM_000521.4(HEXB):c.159G>A (p.Gly53=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2060588	NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)	HEXB (P54S)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GUncertain significance
Select item 570375	NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)	HEXB (P54T)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GConflicting classifications of pathogenicity
Select item 2197478	NM_000521.4(HEXB):c.164C>T (p.Ala55Val)	HEXB (A55V)	Single nucleotide variant (intron variant +1 more)	Sandhoff disease +1 more	GConflicting classifications of pathogenicity
Select item 2028927	NM_000521.4(HEXB):c.165G>T (p.Ala55=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1990962	NM_000521.4(HEXB):c.166C>T (p.Leu56=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 557707	NM_000521.4(HEXB):c.171del (p.Trp57fs)	HEXB (W57fs)	Deletion (frameshift variant +1 more)	Sandhoff disease	GPathogenic
Select item 242876	NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)	HEXB (W57*)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 1092720	NM_000521.4(HEXB):c.174C>T (p.Pro58=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 1397605	NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)	HEXB (L59P)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +1 more	GUncertain significance
Select item 1328998	NM_000521.4(HEXB):c.178C>A (p.Pro60Thr)	HEXB (P60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1077550	NM_000521.4(HEXB):c.180G>A (p.Pro60=)	HEXB	Single nucleotide variant (intron variant +1 more)	Sandhoff disease	GLikely benign
Select item 2080472	NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)	HEXB (L61F)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease	GLikely benign
Select item 167173	NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)	HEXB (L62S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3882	NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)	HEXB	Single nucleotide variant (no sequence alteration +1 more)	Sandhoff disease	GBenign
Select item 2282556	NM_000521.4(HEXB):c.187G>A (p.Val63Met)	HEXB (V63M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1642499	NM_000521.4(HEXB):c.189G>A (p.Val63=)	HEXB	Single nucleotide variant (synonymous variant +1 more)	Sandhoff disease	GLikely benign
Select item 2256269	NM_000521.4(HEXB):c.190A>G (p.Lys64Glu)	HEXB (K64E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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