"HYAL2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031271	NM_003773.5(HYAL2):c.1200T>C (p.His400=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition	GLikely benign
Select item 3052597	NM_003773.5(HYAL2):c.1164T>C (p.His388=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition	GLikely benign
Select item 2635252	NM_003773.5(HYAL2):c.1011G>A (p.Thr337=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition	GUncertain significance
Select item 3033948	NM_003773.5(HYAL2):c.993G>A (p.Ala331=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition	GLikely benign
Select item 3046607	NM_003773.5(HYAL2):c.963C>T (p.Gly321=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition	GLikely benign
Select item 3035605	NM_003773.5(HYAL2):c.935C>T (p.Ser312Phe)	HYAL2 (S312F)	Single nucleotide variant (missense variant)	HYAL2-related condition	GUncertain significance
Select item 1065393	NM_003773.5(HYAL2):c.829C>T (p.Arg277Cys)	HYAL2 (R277C)	Single nucleotide variant (missense variant)	HYAL2-related condition	GUncertain significance
Select item 746855	NM_003773.5(HYAL2):c.753T>C (p.Ser251=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition +1 more	GBenign/Likely benign
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 3035932	NM_003773.5(HYAL2):c.591G>A (p.Val197=)	HYAL2	Single nucleotide variant (synonymous variant)	HYAL2-related condition	GLikely benign
Select item 2633355	NM_003773.5(HYAL2):c.350T>C (p.Val117Ala)	HYAL2 (V117A)	Single nucleotide variant (missense variant)	HYAL2-related condition	GUncertain significance