"PreventionGenetics, part of Exact Sciences"[submitter] AND "HS6ST1"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180161	NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)	HS6ST1 (R382W)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 39691	NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln)	HS6ST1 (R306Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3057836	NM_004807.3(HS6ST1):c.527+9C>T	HS6ST1, LOC129934748	Single nucleotide variant (intron variant)	HS6ST1-related disorder	GLikely benign
Select item 3055084	NM_004807.3(HS6ST1):c.405T>A (p.Thr135=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder	GLikely benign
Select item 1608082	NM_004807.3(HS6ST1):c.234G>C (p.Ser78=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder +1 more	GLikely benign
Select item 3038535	NM_004807.3(HS6ST1):c.219C>T (p.Arg73=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder	GBenign
Select item 3036210	NM_004807.3(HS6ST1):c.198G>A (p.Lys66=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder	GLikely benign
Select item 3055191	NM_004807.3(HS6ST1):c.156C>T (p.Asp52=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder	GLikely benign
Select item 3057559	NM_004807.3(HS6ST1):c.147G>A (p.Ala49=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder	GLikely benign
Select item 3032526	NM_004807.3(HS6ST1):c.75G>A (p.Ser25=)	HS6ST1	Single nucleotide variant (synonymous variant)	HS6ST1-related disorder	GLikely benign
Select item 2716290	NM_004807.3(HS6ST1):c.48C>T (p.Ser16=)	HS6ST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign