All variants

640327 entries on 6404 pages. Showing entries 1 - 100.
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Effect

Chr

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
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76199277A>C g.75733592A>C - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76198571C>T g.75732886C>T - - ACADM_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.21887209C>T g.21560716C>T - - ALPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - pathogenic (recessive) g.21889760G>A g.21563267G>A - - ALPL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.197070442G>T g.197101312G>T - - ASPM_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.97547947T>A g.97082391T>A - - DPYD_000004 - - - rs67376798 Germline - - - 0 - Gerard C.P. Schaafsma
?/. 1 - VUS g.98165030T>C g.97699474T>C - - DPYD_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155206060C>T g.155236269C>T - - GBA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205043A>C g.155235252A>C - - GBA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155206089C>G g.155236298C>G - - GBA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155210452dup g.155240661dup - - GBA_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205043A>G g.155235252A>G - - GBA_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.155205499G>C g.155235708G>C - - GBA_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - - g.155210420C>T g.155240629C>T INTRON 2, IVS2+1G>A, CHR1:153477044G>A - GBA_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.43225040G>A g.42759369G>A - - P3H1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.235993601dup g.235830301dup - - LYST_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.235969126G>A g.235805826G>A - - LYST_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.235884132_235884144del g.235720832_235720844del - - LYST_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - pathogenic (recessive) g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - pathogenic (recessive) g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
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