ClinVar for MedGen (Select 226942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021541	NM_033159.4(HYAL1):c.990+15G>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 3016878	NM_033159.4(HYAL1):c.85_88dup (p.Arg30fs)	HYAL1 (R30fs)	Duplication (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 3012779	NM_033159.4(HYAL1):c.387C>T (p.Asp129=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 3004480	NM_033159.4(HYAL1):c.528G>A (p.Gln176=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	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 2991501	NM_033159.4(HYAL1):c.735C>T (p.Ser245=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2984498	NM_033159.4(HYAL1):c.235C>T (p.Leu79=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2980703	NM_033159.4(HYAL1):c.900+10C>G	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2967212	NM_033159.4(HYAL1):c.900+17C>T	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2954782	NM_033159.4(HYAL1):c.900+16C>G	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2920549	NM_033159.4(HYAL1):c.705G>A (p.Leu235=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2889364	NM_033159.4(HYAL1):c.564G>A (p.Gln188=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
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 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 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 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 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 2866304	NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter)	HYAL1 (Q259* +1 more)	Single nucleotide variant (nonsense +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
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 2860602	NM_033159.4(HYAL1):c.900+14A>T	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2859318	NM_033159.4(HYAL1):c.63C>A (p.Gly21=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2855511	NM_033159.4(HYAL1):c.901-16G>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 2849832	NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter)	HYAL1 (Q64*)	Single nucleotide variant (nonsense +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2849597	NM_033159.4(HYAL1):c.599del (p.Gly200fs)	HYAL1 (G18fs +1 more)	Deletion (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2843828	NM_033159.4(HYAL1):c.990+19T>A	HYAL1	Single nucleotide variant (intron variant)	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 2840269	NM_033159.4(HYAL1):c.900+16C>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2837028	NM_033159.4(HYAL1):c.432G>A (p.Lys144=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2836940	NM_033159.4(HYAL1):c.111T>C (p.Asn37=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
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 2817930	NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter)	HYAL1 (W182*)	Single nucleotide variant (nonsense +3 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2803938	NM_033159.4(HYAL1):c.901-13G>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2787441	NM_033159.4(HYAL1):c.627C>T (p.Asn209=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
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 2780854	NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter)	HYAL1 (Q38* +1 more)	Single nucleotide variant (nonsense +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
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 2758163	NM_033159.4(HYAL1):c.876C>T (p.Asp292=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2751188	NM_033159.4(HYAL1):c.621C>T (p.Cys207=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2745132	NM_033159.4(HYAL1):c.268del (p.Glu90fs)	HYAL1 (E90fs)	Deletion (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2744290	NM_033159.4(HYAL1):c.75C>G (p.Pro25=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2743470	NM_033159.4(HYAL1):c.201del (p.Gly68fs)	HYAL1 (G68fs)	Deletion (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2742904	NM_033159.4(HYAL1):c.768G>C (p.Gly256=)	HYAL1	Single nucleotide variant (synonymous variant +2 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 2732354	NM_033159.4(HYAL1):c.21C>T (p.Pro7=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2726228	NM_033159.4(HYAL1):c.900+18T>G	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2709950	NM_033159.4(HYAL1):c.537A>T (p.Ala179=)	HYAL1	Single nucleotide variant (intron variant +3 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 2702851	NM_033159.4(HYAL1):c.991-11T>A	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2701046	NM_033159.4(HYAL1):c.901-7T>C	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2700606	NM_033159.4(HYAL1):c.327A>T (p.Thr109=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2695909	NM_033159.4(HYAL1):c.250del (p.Tyr84fs)	HYAL1 (Y84fs)	Deletion (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2428440	NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)	HYAL1 (D57N)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2427429	NC_000003.11:g.(?_50340112)_(50342638_?)del	HYAL1	Deletion	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2418781	NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)	HYAL1 (I128T)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
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
Select item 2415092	NM_033159.4(HYAL1):c.991-6A>C	HYAL1	Single nucleotide variant (intron variant)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2202811	NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)	HYAL1 (A94V +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2202578	NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)	HYAL1 (R30W)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2199948	NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)	HYAL1 (R191Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2199871	NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)	HYAL1 (D52G)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase +1 more	GUncertain significance
Select item 2199188	NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)	HYAL1 (W130*)	Single nucleotide variant (nonsense +3 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
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 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 2188197	NM_033159.4(HYAL1):c.573G>A (p.Arg191=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2186105	NM_033159.4(HYAL1):c.547A>G (p.Met183Val)	HYAL1 (M183V +1 more)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2178003	NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)	HYAL1 (P69R)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2173294	NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)	HYAL1 (R46fs)	Duplication (frameshift variant +2 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2163512	NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)	HYAL1 (G233R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2162509	NM_033159.4(HYAL1):c.315C>G (p.His105Gln)	HYAL1 (H105Q)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2162496	NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)	HYAL1 (R226S +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2157691	NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)	HYAL1 (G37S +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2157262	NM_033159.4(HYAL1):c.886C>G (p.His296Asp)	HYAL1 (H114D +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase +1 more	GUncertain significance
Select item 2156301	NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)	HYAL1 (G241S +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2155826	NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)	HYAL1 (R134P)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2155282	NM_033159.4(HYAL1):c.151G>A (p.Val51Met)	HYAL1 (V51M)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	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 2154071	NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)	HYAL1 (R134C)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2153547	NM_033159.4(HYAL1):c.900G>C (p.Leu300=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	HYAL1-related condition +1 more	GConflicting classifications of pathogenicity
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 2147091	NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)	HYAL1 (A68T +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase +1 more	GUncertain significance
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 2143566	NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)	HYAL1 (Y32C +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
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 2142662	NM_033159.4(HYAL1):c.348C>T (p.Ala116=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2142626	NM_033159.4(HYAL1):c.801C>G (p.Ala267=)	HYAL1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2141322	NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)	HYAL1 (G68D)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
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 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 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 2115682	NM_033159.4(HYAL1):c.440del (p.Tyr147fs)	HYAL1 (Y147fs)	Deletion (frameshift variant +3 more)	Deficiency of hyaluronoglucosaminidase	GPathogenic
Select item 2115092	NM_033159.4(HYAL1):c.99C>A (p.Thr33=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2107847	NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)	HYAL1 (V35D)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2105233	NM_033159.4(HYAL1):c.147G>A (p.Val49=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2100674	NM_033159.4(HYAL1):c.417C>T (p.Phe139=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 2081897	NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)	HYAL1 (V35I)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2081426	NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)	HYAL1 (S63T +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
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 2074031	NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)	HYAL1 (R136C)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 2063762	NM_033159.4(HYAL1):c.49G>C (p.Asp17His)	HYAL1 (D17H)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance

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