C1291490[trait identifier] AND "Natera, Inc."[submitter] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346082	NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)	HYAL1 (R431Q +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase +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 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 346084	NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met)	HYAL1 (T392M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 968114	NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)	HYAL1 (R189H +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
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 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 766075	NM_033159.4(HYAL1):c.915C>T (p.His305=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 991892	NM_033159.4(HYAL1):c.796G>A (p.Val266Met)	HYAL1 (V266M +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 346086	NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)	HYAL1 (G256R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 595051	NM_033159.4(HYAL1):c.600C>A (p.Gly200=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 799597	NM_033159.4(HYAL1):c.588C>T (p.Arg196=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 991893	NM_033159.4(HYAL1):c.587G>A (p.Arg196His)	HYAL1 (R14H +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 991894	NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)	HYAL1 (A184V +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 1014561	NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)	HYAL1 (W182S)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 739148	NM_033159.4(HYAL1):c.483T>C (p.Asp161=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 787973	NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)	HYAL1 (R152W)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 725404	NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)	HYAL1 (N140S)	Single nucleotide variant (missense variant +3 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 346088	NM_033159.4(HYAL1):c.384C>T (p.Ile128=)	HYAL1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of hyaluronoglucosaminidase	GBenign
Select item 720221	NM_033159.4(HYAL1):c.323G>A (p.Arg108His)	HYAL1 (R108H)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GBenign
Select item 346089	NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)	HYAL1 (E90D)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GBenign/Likely benign
Select item 1018908	NM_033159.4(HYAL1):c.200G>A (p.Arg67His)	HYAL1 (R67H)	Single nucleotide variant (missense variant +2 more)	Deficiency of hyaluronoglucosaminidase	GUncertain significance
Select item 765955	NM_033159.4(HYAL1):c.150C>T (p.Asp50=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase	GLikely benign
Select item 1086439	NM_033159.4(HYAL1):c.141C>T (p.His47=)	HYAL1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of hyaluronoglucosaminidase +1 more	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: 24