HYAL2[gene] - ClinVar

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Items: 71

	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 3107664	NM_003773.5(HYAL2):c.1412G>T (p.Trp471Leu)	HYAL2 (W471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364479	NM_003773.5(HYAL2):c.1397C>T (p.Ala466Val)	HYAL2 (A466V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255434	NM_003773.5(HYAL2):c.1391T>A (p.Leu464Gln)	HYAL2 (L464Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107663	NM_003773.5(HYAL2):c.1351G>A (p.Glu451Lys)	HYAL2 (E451K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065397	NM_003773.5(HYAL2):c.1273T>G (p.Phe425Val)	HYAL2 (F425V)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GPathogenic
Select item 1065396	NM_003773.5(HYAL2):c.1271_1272del (p.His424fs)	HYAL2 (H424fs)	Microsatellite (frameshift variant)	HYAL2 deficiency	GPathogenic
Select item 1229880	NM_003773.5(HYAL2):c.1252A>C (p.Ile418Leu)	HYAL2 (I418L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2269481	NM_003773.5(HYAL2):c.1218G>C (p.Gln406His)	HYAL2 (Q406H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031271	NM_003773.5(HYAL2):c.1200T>C (p.His400=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related disorder	GLikely benign
Select item 3052597	NM_003773.5(HYAL2):c.1164T>C (p.His388=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related disorder	GLikely benign
Select item 3107662	NM_003773.5(HYAL2):c.1163A>G (p.His388Arg)	HYAL2 (H388R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704656	NM_003773.5(HYAL2):c.1135C>T (p.Arg379Cys)	HYAL2 (R379C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065395	NM_003773.5(HYAL2):c.1132C>T (p.Arg378Cys)	HYAL2 (R378C)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GLikely pathogenic
Select item 3340536	NM_003773.5(HYAL2):c.1124G>A (p.Arg375His)	HYAL2 (R375H)	Single nucleotide variant (missense variant)	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	GUncertain significance
Select item 2410242	NM_003773.5(HYAL2):c.1099C>T (p.Arg367Trp)	HYAL2 (R367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1704803	NM_003773.5(HYAL2):c.1070A>G (p.Asn357Ser)	HYAL2 (N357S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571180	NM_003773.5(HYAL2):c.1066G>A (p.Val356Ile)	HYAL2 (V356I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285102	NM_003773.5(HYAL2):c.1054G>A (p.Val352Ile)	HYAL2 (V352I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635252	NM_003773.5(HYAL2):c.1011G>A (p.Thr337=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related disorder	GUncertain significance
Select item 3033948	NM_003773.5(HYAL2):c.993G>A (p.Ala331=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related disorder	GLikely benign
Select item 2238118	NM_003773.5(HYAL2):c.965C>T (p.Ala322Val)	HYAL2 (A322V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046607	NM_003773.5(HYAL2):c.963C>T (p.Gly321=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related disorder	GLikely benign
Select item 2206122	NM_003773.5(HYAL2):c.940A>G (p.Ile314Val)	HYAL2 (I314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035605	NM_003773.5(HYAL2):c.935C>T (p.Ser312Phe)	HYAL2 (S312F)	Single nucleotide variant (missense variant)	HYAL2-related disorder	GUncertain significance
Select item 2276366	NM_003773.5(HYAL2):c.908C>T (p.Thr303Met)	HYAL2 (T303M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107671	NM_003773.5(HYAL2):c.884G>A (p.Arg295Gln)	HYAL2 (R295Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065394	NM_003773.5(HYAL2):c.883C>T (p.Arg295Ter)	HYAL2 (R295*)	Single nucleotide variant (nonsense)	HYAL2 deficiency	GLikely pathogenic
Select item 2544730	NM_003773.5(HYAL2):c.850G>A (p.Ala284Thr)	HYAL2 (A284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285103	NM_003773.5(HYAL2):c.838C>T (p.Arg280Cys)	HYAL2 (R280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285100	NM_003773.5(HYAL2):c.830G>A (p.Arg277His)	HYAL2 (R277H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065393	NM_003773.5(HYAL2):c.829C>T (p.Arg277Cys)	HYAL2 (R277C)	Single nucleotide variant (missense variant)	HYAL2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2606427	NM_003773.5(HYAL2):c.785G>A (p.Arg262His)	HYAL2 (R262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3375477	NM_003773.5(HYAL2):c.782C>T (p.Ser261Phe)	HYAL2 (S261F)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GLikely pathogenic
Select item 746855	NM_003773.5(HYAL2):c.753T>C (p.Ser251=)	HYAL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1065392	NM_003773.5(HYAL2):c.749C>T (p.Pro250Leu)	HYAL2 (P250L)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GLikely pathogenic
Select item 3285104	NM_003773.5(HYAL2):c.740C>T (p.Ala247Val)	HYAL2 (A247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519355	NM_003773.5(HYAL2):c.737C>T (p.Thr246Met)	HYAL2 (T246M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1065391	NM_003773.5(HYAL2):c.713T>G (p.Leu238Arg)	HYAL2 (L238R)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GLikely pathogenic
Select item 3107670	NM_003773.5(HYAL2):c.704A>G (p.Asn235Ser)	HYAL2 (N235S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470561	NM_003773.5(HYAL2):c.698C>A (p.Ala233Asp)	HYAL2 (A233D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107669	NM_003773.5(HYAL2):c.677G>A (p.Arg226His)	HYAL2 (R226H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107668	NM_003773.5(HYAL2):c.676C>T (p.Arg226Cys)	HYAL2 (R226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065390	NM_003773.5(HYAL2):c.611G>C (p.Gly204Ala)	HYAL2 (G204A)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GLikely pathogenic
Select item 3285101	NM_003773.5(HYAL2):c.610G>T (p.Gly204Cys)	HYAL2 (G204C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482993	NM_003773.5(HYAL2):c.605T>G (p.Leu202Arg)	HYAL2 (L202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346577	NM_003773.5(HYAL2):c.604C>T (p.Leu202Phe)	HYAL2 (L202F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107667	NM_003773.5(HYAL2):c.598C>T (p.Arg200Trp)	HYAL2 (R200W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035932	NM_003773.5(HYAL2):c.591G>A (p.Val197=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related disorder	GLikely benign
Select item 3107666	NM_003773.5(HYAL2):c.544G>A (p.Ala182Thr)	HYAL2 (A182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107665	NM_003773.5(HYAL2):c.542T>G (p.Phe181Cys)	HYAL2 (F181C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065389	NM_003773.5(HYAL2):c.443A>G (p.Lys148Arg)	HYAL2 (K148R)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GPathogenic
Select item 2287173	NM_003773.5(HYAL2):c.423G>C (p.Trp141Cys)	HYAL2 (W141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275378	NM_003773.5(HYAL2):c.353A>G (p.Glu118Gly)	HYAL2 (E118G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633355	NM_003773.5(HYAL2):c.350T>C (p.Val117Ala)	HYAL2 (V117A)	Single nucleotide variant (missense variant)	HYAL2-related disorder	GUncertain significance
Select item 3026661	NM_003773.5(HYAL2):c.316C>T (p.Leu106Phe)	HYAL2 (L106F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065388	NM_003773.5(HYAL2):c.194C>G (p.Ser65Ter)	HYAL2 (S65*)	Single nucleotide variant (nonsense)	HYAL2 deficiency	GPathogenic
Select item 1065387	NM_003773.5(HYAL2):c.190G>A (p.Ala64Thr)	HYAL2 (A64T)	Single nucleotide variant (missense variant)	HYAL2 deficiency	GLikely pathogenic
Select item 2492640	NM_003773.5(HYAL2):c.168C>A (p.Asp56Glu)	HYAL2 (D56E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107661	NM_003773.5(HYAL2):c.115G>A (p.Ala39Thr)	HYAL2 (A39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1183695	NM_003773.5(HYAL2):c.52T>G (p.Ser18Ala)	HYAL2 (S18A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2289766	NM_003773.5(HYAL2):c.7G>C (p.Ala3Pro)	HYAL2 (A3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691221	NM_003773.5(HYAL2):c.-9G>A	HYAL2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71