Related gene-specific medical variations for Gene (Select 9394) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057836	NM_004807.3(HS6ST1):c.527+9C>T	HS6ST1, LOC129934748	Single nucleotide variant (intron variant)	HS6ST1-related condition	GLikely benign
Select item 2689224	NM_004807.3(HS6ST1):c.131C>T (p.Ala44Val)	HS6ST1 (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296962	NM_004807.3(HS6ST1):c.-281G>C	HS6ST1, LOC129934749	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1246773	NM_004807.3(HS6ST1):c.-259G>C	HS6ST1, LOC129934749	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1224972	NM_004807.3(HS6ST1):c.-250G>T	HS6ST1, LOC129934749	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1207338	NM_004807.3(HS6ST1):c.527+103C>A	HS6ST1, LOC129934748	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 930865	NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn)	HS6ST1 (Y319N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 15 with or without anosmia	GUncertain significance

ClinVar