Related gene-specific medical variations for Gene (Select 90161) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107048	NM_001394073.1(HS6ST2):c.992G>A (p.Arg331Gln)	HS6ST2, HS6ST2-AS1 (R331Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107040	NM_001394073.1(HS6ST2):c.1045C>T (p.Arg349Trp)	HS6ST2, HS6ST2-AS1 (R349W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2661454	NM_001394073.1(HS6ST2):c.1011C>T (p.Asn337=)	HS6ST2, HS6ST2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2592776	NM_001394073.1(HS6ST2):c.1058A>G (p.Lys353Arg)	HS6ST2, HS6ST2-AS1 (K353R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432533	NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)	HS6ST2 (N404S +1 more)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 2274116	NM_001394073.1(HS6ST2):c.994G>T (p.Gly332Cys)	HS6ST2, HS6ST2-AS1 (G332C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218463	NM_001394073.1(HS6ST2):c.1064G>A (p.Gly355Glu)	HS6ST2, HS6ST2-AS1 (G355E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1213743	NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser)	HS6ST2 (G108S)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 997001	NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe)	HS6ST2 (V23F)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 997000	NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val)	HS6ST2 (A52V)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance