HYAL2[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61