All variants in the HS6ST2 gene

Information The variants shown are described using the NM_001077188.1 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.-267+114_-267+115dup r.(=) p.(=) - VUS g.132095171_132095172dup g.132961143_132961144dup - - HS6ST2_000008 - - - - Germline - - - - - Yu Sun
?/. - c.-267+115dup r.(=) p.(=) - VUS g.132095172dup g.132961144dup - - HS6ST2_000006 - - - - Germline - - - - - Yu Sun
?/. - c.-267+115dup r.(=) p.(=) - VUS g.132095172dup g.132961144dup - - HS6ST2_000018 - - - - Germline - - - - - Yu Sun
?/. - c.-267+115dup r.(=) p.(=) - VUS g.132095172dup g.132961144dup - - HS6ST2_000006 - - - - Germline - - - - - Yu Sun
?/. - c.-267+115dup r.(=) p.(=) - VUS g.132095172dup g.132961144dup - - HS6ST2_000018 - - - - Germline - - - - - Yu Sun
?/. - c.-266-257A>G r.(=) p.(=) - VUS g.132093153T>C g.132959125T>C - - HS6ST2_000004 - - - - Germline - - - - - Yu Sun
?/. - c.-266-257A>G r.(=) p.(=) - VUS g.132093153T>C g.132959125T>C - - HS6ST2_000004 - - - - Germline - - - - - Yu Sun
?/. - c.41C>T r.(?) p.(Pro14Leu) - VUS g.132092590G>A - HS6ST2(NM_001077188.1):c.41C>T (p.P14L) - HS6ST2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.132G>A r.(?) p.(Gly44=) - likely benign g.132092499C>T - HS6ST2(NM_001077188.1):c.132G>A (p.G44=) - HS6ST2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.134C>G r.(?) p.(Ser45Trp) - VUS g.132092497G>C - HS6ST2(NM_001077188.1):c.134C>G (p.S45W) - HS6ST2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.146C>T r.(?) p.(Ser49Leu) - likely benign g.132092485G>A g.132958457G>A HS6ST2(NM_001077188.1):c.146C>T (p.(Ser49Leu)) - HS6ST2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.152G>T r.(?) p.(Arg51Leu) - likely benign g.132092479C>A g.132958451C>A HS6ST2(NM_001077188.1):c.152G>T (p.(Arg51Leu)) - HS6ST2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.295C>A r.(?) p.(His99Asn) - likely benign g.132092336G>T - HS6ST2(NM_001077188.1):c.295C>A (p.H99N) - HS6ST2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.338C>T r.(?) p.(Ala113Val) - VUS g.132092293G>A - - - HS6ST2_000035 - Doucette 2021, submitted - rs761589939 Germline yes - - 0 - Lance P Doucette
?/. - c.428+142G>C r.(=) p.(=) - VUS g.132092061C>G g.132958033C>G - - HS6ST2_000011 - - - - Germline - - - - - Yu Sun
?/. - c.428+160C>G r.(=) p.(=) - VUS g.132092043G>C g.132958015G>C - - HS6ST2_000009 - - - - Germline - - - - - Yu Sun
?/. - c.428+160C>G r.(=) p.(=) - VUS g.132092043G>C g.132958015G>C - - HS6ST2_000009 - - - - Germline - - - - - Yu Sun
?/. - c.981-306del r.(=) p.(=) - VUS g.131803536del g.132669508del - - HS6ST2_000016 - - - - Germline - - - - - Yu Sun
?/. - c.981-306del r.(=) p.(=) - VUS g.131803536del g.132669508del - - HS6ST2_000016 - - - - Germline - - - - - Yu Sun
?/. - c.981-141G>C r.(=) p.(=) - VUS g.131803368C>G g.132669340C>G - - HS6ST2_000001 - - - - Germline - - - - - Yu Sun
?/. - c.981-128_981-125del r.(=) p.(=) - VUS g.131803352_131803355del g.132669324_132669327del - - HS6ST2_000015 - - - - Germline - - - - - Yu Sun
?/. - c.981-127_981-126del r.(=) p.(=) - VUS g.131803373_131803374del g.132669345_132669346del - - HS6ST2_000002 - - - - Germline - - - - - Yu Sun
?/. - c.981-127_981-126del r.(=) p.(=) - VUS g.131803373_131803374del g.132669345_132669346del - - HS6ST2_000002 - - - - Germline - - - - - Yu Sun
?/. - c.981-126_981-125del r.(=) p.(=) - VUS g.131803352_131803353del g.132669324_132669325del - - HS6ST2_000013 - - - - Germline - - - - - Yu Sun
?/. - c.981-126_981-125del r.(=) p.(=) - VUS g.131803352_131803353del g.132669324_132669325del - - HS6ST2_000013 - - - - Germline - - - - - Yu Sun
?/. - c.1046G>A r.(?) p.(Arg349Gln) - VUS g.131803162C>T g.132669134C>T HS6ST2(NM_001077188.1):c.1046G>A (p.(Arg349Gln)) - HS6ST2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1078T>C r.(?) p.(Tyr360His) - VUS g.131763111A>G g.132629083A>G HS6ST2(NM_001077188.1):c.1078T>C (p.(Tyr360His)) - HS6ST2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1241C>A r.(?) p.(Pro414His) - likely benign g.131762948G>T - HS6ST2(NM_001077188.1):c.1241C>A (p.P414H) - HS6ST2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1531G>A r.(?) p.(Glu511Lys) - likely benign g.131762658C>T g.132628630C>T HS6ST2(NM_001077188.1):c.1531G>A (p.(Glu511Lys)) - HS6ST2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1546C>T r.(?) p.(Arg516Cys) - VUS g.131762643G>A g.132628615G>A HS6ST2(NM_001077188.1):c.1546C>T (p.R516C) - HS6ST2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1595A>T r.(?) p.(Lys532Ile) - VUS g.131762594T>A g.132628566T>A HS6ST2(NM_001077188.1):c.1595A>T (p.(Lys532Ile)) - HS6ST2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1666G>A r.(?) p.(Glu556Lys) - VUS g.131762523C>T g.132628495C>T HS6ST2(NM_001077188.1):c.1666G>A (p.E556K) - HS6ST2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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