"Ambry Genetics"[submitter] AND "HYAL1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550822	NM_033159.4(HYAL1):c.1298G>A (p.Ser433Asn)	HYAL1 (S403N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 346082	NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)	HYAL1 (R431Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 901013	NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)	HYAL1 (E430D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2615869	NM_033159.4(HYAL1):c.1288G>A (p.Glu430Lys)	HYAL1 (E400K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107657	NM_033159.4(HYAL1):c.1265C>G (p.Pro422Arg)	HYAL1 (P163R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2313458	NM_033159.4(HYAL1):c.1229C>A (p.Ala410Glu)	HYAL1 (A228E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2042955	NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)	HYAL1 (G372R +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of hyaluronoglucosaminidase +1 more	GUncertain significance
Select item 2519516	NM_033159.4(HYAL1):c.1153G>C (p.Ala385Pro)	HYAL1 (A203P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107656	NM_033159.4(HYAL1):c.1051G>A (p.Val351Met)	HYAL1 (V321M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3107660	NM_033159.4(HYAL1):c.820G>A (p.Val274Met)	HYAL1 (V274M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2620866	NM_033159.4(HYAL1):c.742A>G (p.Met248Val)	HYAL1 (M248V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2047708	NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)	HYAL1 (Y202C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	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)	Deficiency of hyaluronoglucosaminidase +1 more	GConflicting classifications of pathogenicity
Select item 2599275	NM_033159.4(HYAL1):c.538C>T (p.Arg180Trp)	HYAL1 (R180W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3107658	NM_033159.4(HYAL1):c.532G>A (p.Ala178Thr)	HYAL1 (A178T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2337801	NM_033159.4(HYAL1):c.233A>G (p.Gln78Arg)	HYAL1 (Q78R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2060406	NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)	HYAL1 (G48S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2558199	NM_033159.4(HYAL1):c.49G>A (p.Asp17Asn)	HYAL1 (D17N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318767	NM_033159.4(HYAL1):c.5C>T (p.Ala2Val)	HYAL1 (A2V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 22