HS3ST3A1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 3284801	NM_006042.3(HS3ST3A1):c.1153G>C (p.Glu385Gln)	HS3ST3A1 (E385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106993	NM_006042.3(HS3ST3A1):c.1138G>A (p.Val380Met)	HS3ST3A1 (V380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559088	NM_006042.3(HS3ST3A1):c.1129C>A (p.Arg377Ser)	HS3ST3A1 (R377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106992	NM_006042.3(HS3ST3A1):c.1121A>C (p.Glu374Ala)	HS3ST3A1 (E374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106991	NM_006042.3(HS3ST3A1):c.1099A>T (p.Thr367Ser)	HS3ST3A1 (T367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106990	NM_006042.3(HS3ST3A1):c.1030A>G (p.Asn344Asp)	HS3ST3A1 (N344D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107000	NM_006042.3(HS3ST3A1):c.865G>A (p.Gly289Ser)	HS3ST3A1 (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312329	NM_006042.3(HS3ST3A1):c.844T>C (p.Ser282Pro)	HS3ST3A1 (S282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541141	NM_006042.3(HS3ST3A1):c.820A>G (p.Arg274Gly)	HS3ST3A1 (R274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609314	NM_006042.3(HS3ST3A1):c.781C>T (p.Pro261Ser)	HS3ST3A1 (P261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106999	NM_006042.3(HS3ST3A1):c.710A>C (p.Lys237Thr)	HS3ST3A1 (K237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106998	NM_006042.3(HS3ST3A1):c.691G>C (p.Ala231Pro)	HS3ST3A1 (A231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257198	NM_006042.3(HS3ST3A1):c.673G>T (p.Ala225Ser)	HS3ST3A1 (A225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556240	NM_006042.3(HS3ST3A1):c.670G>C (p.Glu224Gln)	HS3ST3A1 (E224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221201	NM_006042.3(HS3ST3A1):c.601G>A (p.Asp201Asn)	HS3ST3A1 (D201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259736	NM_006042.3(HS3ST3A1):c.589G>T (p.Ala197Ser)	HS3ST3A1 (A197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284802	NM_006042.3(HS3ST3A1):c.538G>A (p.Ala180Thr)	HS3ST3A1 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225787	NM_006042.3(HS3ST3A1):c.403G>A (p.Glu135Lys)	HS3ST3A1 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106996	NM_006042.3(HS3ST3A1):c.365G>C (p.Gly122Ala)	HS3ST3A1 (G122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106995	NM_006042.3(HS3ST3A1):c.305C>T (p.Pro102Leu)	HS3ST3A1 (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106994	NM_006042.3(HS3ST3A1):c.175G>A (p.Gly59Ser)	HS3ST3A1 (G59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301106	NM_006042.3(HS3ST3A1):c.139C>G (p.Gln47Glu)	HS3ST3A1 (Q47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106997	NM_006042.3(HS3ST3A1):c.41C>T (p.Ala14Val)	HS3ST3A1 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 815904	GRCh37/hg19 17p12(chr17:12914534-13474612)x4	HS3ST3A1, ELAC2	Copy number gain	not provided	GLikely benign
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 34