"Ambry Genetics"[submitter] AND "HS3ST3B1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2360618	NM_006041.3(HS3ST3B1):c.22G>C (p.Gly8Arg)	HS3ST3B1 (G8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338037	NM_006041.3(HS3ST3B1):c.100G>C (p.Ala34Pro)	HS3ST3B1 (A34P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233659	NM_006041.3(HS3ST3B1):c.169G>T (p.Ala57Ser)	HS3ST3B1 (A57S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310628	NM_006041.3(HS3ST3B1):c.235A>T (p.Thr79Ser)	HS3ST3B1 (T79S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412432	NM_006041.3(HS3ST3B1):c.272G>T (p.Arg91Leu)	HS3ST3B1 (R91L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588883	NM_006041.3(HS3ST3B1):c.311T>C (p.Met104Thr)	HS3ST3B1 (M104T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387534	NM_006041.3(HS3ST3B1):c.328A>T (p.Ser110Cys)	HS3ST3B1 (S110C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474155	NM_006041.3(HS3ST3B1):c.332C>G (p.Pro111Arg)	HS3ST3B1 (P111R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294570	NM_006041.3(HS3ST3B1):c.398G>A (p.Gly133Glu)	HS3ST3B1 (G133E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314914	NM_006041.3(HS3ST3B1):c.421A>G (p.Ile141Val)	HS3ST3B1 (I141V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489717	NM_006041.3(HS3ST3B1):c.519C>G (p.Phe173Leu)	HS3ST3B1 (F173L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600736	NM_006041.3(HS3ST3B1):c.607A>G (p.Ser203Gly)	HS3ST3B1 (S203G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386194	NM_006041.3(HS3ST3B1):c.623G>C (p.Arg208Pro)	HS3ST3B1 (R208P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310843	NM_006041.3(HS3ST3B1):c.733C>G (p.Arg245Gly)	HS3ST3B1 (R245G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244668	NM_006041.3(HS3ST3B1):c.739G>A (p.Asp247Asn)	HS3ST3B1 (D247N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614724	NM_006041.3(HS3ST3B1):c.902T>C (p.Ile301Thr)	HS3ST3B1 (I301T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391779	NM_006041.3(HS3ST3B1):c.958A>T (p.Ile320Phe)	HS3ST3B1 (I320F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492684	NM_006041.3(HS3ST3B1):c.987C>A (p.Asn329Lys)	HS3ST3B1 (N329K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance