"GeneDx"[submitter] AND "HS6ST1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 1197915	NM_004807.3(HS6ST1):c.*340C>T	HS6ST1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1225191	NM_004807.3(HS6ST1):c.*332del	HS6ST1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1216882	NM_004807.3(HS6ST1):c.*268G>C	HS6ST1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1221493	NM_004807.3(HS6ST1):c.*117A>G	HS6ST1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226324	NM_004807.3(HS6ST1):c.*31G>C	HS6ST1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1310216	NM_004807.3(HS6ST1):c.1213A>G (p.Ser405Gly)	HS6ST1 (S405G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180161	NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)	HS6ST1 (R382W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2574747	NM_004807.3(HS6ST1):c.1124G>A (p.Arg375His)	HS6ST1 (R375H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252635	NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)	HS6ST1 (S374N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1311207	NM_004807.3(HS6ST1):c.1077C>T (p.Tyr359=)	HS6ST1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1311339	NM_004807.3(HS6ST1):c.1017G>T (p.Glu339Asp)	HS6ST1 (E339D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39691	NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln)	HS6ST1 (R306Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1211548	NM_004807.3(HS6ST1):c.807C>T (p.Pro269=)	HS6ST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1266156	NM_004807.3(HS6ST1):c.528-13C>T	HS6ST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193824	NM_004807.3(HS6ST1):c.528-68A>G	HS6ST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245662	NM_004807.3(HS6ST1):c.528-178A>G	HS6ST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201705	NM_004807.3(HS6ST1):c.528-274A>C	HS6ST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288767	NM_004807.3(HS6ST1):c.528-305T>C	HS6ST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235504	NM_004807.3(HS6ST1):c.528-333T>C	HS6ST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270027	NM_004807.3(HS6ST1):c.527+269G>A	HS6ST1	Single nucleotide variant (intron 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 3369895	NM_004807.3(HS6ST1):c.512C>T (p.Ala171Val)	HS6ST1, LOC129934748 (A171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326717	NM_004807.3(HS6ST1):c.418C>G (p.Arg140Gly)	HS6ST1 (R140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363708	NM_004807.3(HS6ST1):c.381C>T (p.Cys127=)	HS6ST1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1205812	NM_004807.3(HS6ST1):c.348C>T (p.Cys116=)	HS6ST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708891	NM_004807.3(HS6ST1):c.344C>A (p.Pro115Gln)	HS6ST1 (P115Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 450657	NM_004807.3(HS6ST1):c.206A>G (p.Tyr69Cys)	HS6ST1 (Y69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216944	NM_004807.3(HS6ST1):c.187C>G (p.His63Asp)	HS6ST1 (H63D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1237973	NM_004807.3(HS6ST1):c.177A>G (p.Thr59=)	HS6ST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1248375	NM_004807.3(HS6ST1):c.122G>C (p.Ser41Thr)	HS6ST1 (S41T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1303222	NM_004807.3(HS6ST1):c.41G>C (p.Arg14Pro)	HS6ST1 (R14P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1311414	NM_004807.3(HS6ST1):c.1A>G (p.Met1Val)	HS6ST1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1207095	NM_004807.3(HS6ST1):c.-58G>C	HS6ST1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1224972	NM_004807.3(HS6ST1):c.-250G>T	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 1296962	NM_004807.3(HS6ST1):c.-281G>C	HS6ST1, LOC129934749	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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Items: 38