HYAL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 346077	NM_033159.4(HYAL1):c.*492C>T	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 346078	NM_033159.4(HYAL1):c.*459G>A	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 346079	NM_033159.4(HYAL1):c.*434C>T	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 899843	NM_033159.4(HYAL1):c.*333C>G	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 346080	NM_033159.4(HYAL1):c.*221T>C	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of hyaluronoglucosaminidase +1 more	GBenign/Likely benign
Select item 346081	NM_033159.4(HYAL1):c.*173T>C	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 899844	NM_033159.4(HYAL1):c.*106G>C	HYAL1	Single nucleotide variant (3 prime UTR variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1991680	NM_033159.4(HYAL1):c.1299C>T (p.Ser433=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2550822	NM_033159.4(HYAL1):c.1298G>A (p.Ser433Asn)	HYAL1 (S403N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 346082	NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)	HYAL1 (R431Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1041971	NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)	HYAL1 (R172W +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 901013	NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)	HYAL1 (E430D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2615869	NM_033159.4(HYAL1):c.1288G>A (p.Glu430Lys)	HYAL1 (E400K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1080928	NM_033159.4(HYAL1):c.1281G>A (p.Pro427=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1374037	NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu)	HYAL1 (P427L +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 346083	NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly)	HYAL1 (A426G +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GBenign
Select item 2034392	NM_033159.4(HYAL1):c.1269C>A (p.Gly423=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2156301	NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)	HYAL1 (G241S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 3107657	NM_033159.4(HYAL1):c.1265C>G (p.Pro422Arg)	HYAL1 (P163R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2147871	NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)	HYAL1 (P422T +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 901014	NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)	HYAL1 (R160Q +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1636589	NM_033159.4(HYAL1):c.1245G>A (p.Glu415=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1941096	NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)	HYAL1 (Q229* +3 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2878320	NM_033159.4(HYAL1):c.1230A>G (p.Ala410=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2740905	NM_033159.4(HYAL1):c.1230A>T (p.Ala410=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2313458	NM_033159.4(HYAL1):c.1229C>A (p.Ala410Glu)	HYAL1 (A228E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1153422	NM_033159.4(HYAL1):c.1212C>G (p.Leu404=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1634224	NM_033159.4(HYAL1):c.1209C>G (p.Ala403=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1130818	NM_033159.4(HYAL1):c.1209C>T (p.Ala403=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2042955	NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)	HYAL1 (G372R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1651884	NM_033159.4(HYAL1):c.1203G>T (p.Arg401=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2143368	NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)	HYAL1 (R142Q +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1698562	NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)	HYAL1 (R142W +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase +1 more	GUncertain significance
Select item 1091956	NM_033159.4(HYAL1):c.1198C>T (p.Leu400=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1137512	NM_033159.4(HYAL1):c.1197C>T (p.Ser399=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1110247	NM_033159.4(HYAL1):c.1188G>T (p.Gly396=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2081369	NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)	HYAL1 (P363A +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1657790	NM_033159.4(HYAL1):c.1176G>C (p.Thr392=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 901015	NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GConflicting classifications of pathogenicity
Select item 346084	NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met)	HYAL1 (T392M +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase +1 more	GBenign
Select item 1096480	NM_033159.4(HYAL1):c.1173C>T (p.Leu391=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1979075	NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)	HYAL1 (F205V +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1360450	NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys)	HYAL1 (S386C +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2782955	NM_033159.4(HYAL1):c.1155C>T (p.Ala385=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2519516	NM_033159.4(HYAL1):c.1153G>C (p.Ala385Pro)	HYAL1 (A203P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2154567	NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)	HYAL1 (L123del +3 more)	Deletion (inframe_indel +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1627400	NM_033159.4(HYAL1):c.1146T>C (p.Leu382=)	HYAL1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1007713	NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)	HYAL1 (L121F +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2865196	NM_033159.4(HYAL1):c.1137C>T (p.Leu379=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1637904	NM_033159.4(HYAL1):c.1128C>T (p.Pro376=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2840510	NM_033159.4(HYAL1):c.1125C>T (p.His375=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 968114	NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)	HYAL1 (R371H +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2192868	NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)	HYAL1 (R112C +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2886868	NM_033159.4(HYAL1):c.1110C>G (p.Val370=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2134995	NM_033159.4(HYAL1):c.1110C>A (p.Val370=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2197621	NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)	HYAL1 (R338H +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1087976	NM_033159.4(HYAL1):c.1098T>C (p.His366=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1080575	NM_033159.4(HYAL1):c.1092C>T (p.Ser364=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 901016	NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)	HYAL1 (C363S +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1576565	NM_033159.4(HYAL1):c.1084C>T (p.Leu362=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2708734	NM_033159.4(HYAL1):c.1071C>T (p.Leu357=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2145259	NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)	HYAL1 (S171N +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2820531	NM_033159.4(HYAL1):c.1056C>T (p.Thr352=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 3107656	NM_033159.4(HYAL1):c.1051G>A (p.Val351Met)	HYAL1 (V321M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1607594	NM_033159.4(HYAL1):c.1050C>T (p.Asn350=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 991891	NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 901017	NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GConflicting classifications of pathogenicity
Select item 1119729	NM_033159.4(HYAL1):c.1044C>T (p.Ile348=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 741222	NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GConflicting classifications of pathogenicity
Select item 2132022	NM_033159.4(HYAL1):c.1038C>G (p.Pro346=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1112598	NM_033159.4(HYAL1):c.1030C>T (p.Leu344=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1581862	NM_033159.4(HYAL1):c.1017T>C (p.Tyr339=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2116748	NM_033159.4(HYAL1):c.1014G>A (p.Glu338=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2879539	NM_033159.4(HYAL1):c.1005C>T (p.Ala335=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2874212	NM_033159.4(HYAL1):c.996A>G (p.Ser332=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2005486	NM_033159.4(HYAL1):c.996A>C (p.Ser332=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2030056	NM_033159.4(HYAL1):c.991-5C>T	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2415092	NM_033159.4(HYAL1):c.991-6A>C	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1122860	NM_033159.4(HYAL1):c.991-8C>G	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2702851	NM_033159.4(HYAL1):c.991-11T>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2851987	NM_033159.4(HYAL1):c.991-20T>C	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2843828	NM_033159.4(HYAL1):c.990+19T>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 3021541	NM_033159.4(HYAL1):c.990+15G>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2998261	NM_033159.4(HYAL1):c.990+12C>T	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2877597	NM_033159.4(HYAL1):c.987C>A (p.Thr329=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1147731	NM_033159.4(HYAL1):c.987C>G (p.Thr329=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1429347	NM_033159.4(HYAL1):c.981A>G (p.Thr327=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1621347	NM_033159.4(HYAL1):c.969C>T (p.Ser323=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 795446	NM_033159.4(HYAL1):c.966G>A (p.Val322=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1360063	NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile)	HYAL1 (L61I +2 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2768685	NM_033159.4(HYAL1):c.957G>A (p.Val319=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1658682	NM_033159.4(HYAL1):c.954G>A (p.Val318=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1439136	NM_033159.4(HYAL1):c.952G>A (p.Val318Met)	HYAL1 (V318M +2 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1947092	NM_033159.4(HYAL1):c.943dup (p.Ala315fs)	HYAL1 (A56fs +2 more)	Duplication (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1452834	NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter)	HYAL1 (Q313* +2 more)	Single nucleotide variant (nonsense +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 1140473	NM_033159.4(HYAL1):c.936C>G (p.Ala312=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 712895	NM_033159.4(HYAL1):c.936C>T (p.Ala312=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2416859	NM_033159.4(HYAL1):c.933G>C (p.Ala311=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign

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