Full data view for gene GUCY2C

Information The variants shown are described using the NM_004963.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.138C>T r.(?) p.(Ala46=) Unknown - likely benign g.14849245G>A g.14696311G>A GUCY2C(NM_004963.3):c.138C>T (p.A46=), GUCY2C(NM_004963.4):c.138C>T (p.A46=) - GUCY2C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.138C>T r.(?) p.(Ala46=) Unknown - likely benign g.14849245G>A - GUCY2C(NM_004963.3):c.138C>T (p.A46=), GUCY2C(NM_004963.4):c.138C>T (p.A46=) - GUCY2C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.378C>G r.(?) p.(Tyr126Ter) Unknown - VUS g.14839112G>C g.14686178G>C GUCY2C(NM_004963.3):c.378C>G (p.(Tyr126Ter)) - GUCY2C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.410T>C r.(?) p.(Leu137Ser) Parent #1 - likely pathogenic g.14836177A>G g.14683243A>G - - GUCY2C_000003 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4396_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.612-16_612-15delinsA r.(=) p.(=) Unknown - benign g.14834426_14834427delinsT g.14681492_14681493delinsT GUCY2C(NM_004963.4):c.612-16_612-15delCTinsA - GUCY2C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.612-9C>T r.(=) p.(=) Unknown - likely benign g.14834420G>A g.14681486G>A GUCY2C(NM_004963.3):c.612-9C>T - GUCY2C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.843T>G r.(?) p.(Phe281Leu) Unknown - benign g.14829893A>C g.14676959A>C GUCY2C(NM_004963.4):c.843T>G (p.F281L) - GUCY2C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.893C>T r.(?) p.(Thr298Met) Unknown - VUS g.14829843G>A g.14676909G>A GUCY2C(NM_004963.3):c.893C>T (p.T298M) - GUCY2C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200C>T r.(?) p.(His400=) Unknown - likely benign g.14822738G>A - GUCY2C(NM_004963.3):c.1200C>T (p.H400=) - GUCY2C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1279C>T r.(?) p.(Arg427Trp) Unknown - VUS g.14822659G>A g.14669725G>A GUCY2C(NM_004963.3):c.1279C>T (p.R427W) - GUCY2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1737C>G r.(?) p.(Tyr579*) Unknown - likely pathogenic g.14798223G>C - GUCY2C(NM_004963.3):c.1737C>G (p.Y579*) - GUCY2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1917A>G r.(?) p.(Leu639=) Unknown - likely benign g.14796521T>C g.14643587T>C GUCY2C(NM_004963.3):c.1917A>G (p.L639=) - GUCY2C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1931-6T>C r.(=) p.(=) Unknown - likely benign g.14794159A>G g.14641225A>G GUCY2C(NM_004963.3):c.1931-6T>C (p.(=)) - GUCY2C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1993A>G r.(?) p.(Ser665Gly) Unknown - VUS g.14794091T>C g.14641157T>C GUCY2C(NM_004963.3):c.1993A>G (p.(Ser665Gly)) - GUCY2C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.2008G>A r.(?) p.(Ala670Thr) Unknown - likely pathogenic g.14794076C>T g.14641142C>T - - GUCY2C_000001 - - - - Germline - - - 0 - DNA PCR - - - - - - - - - - - 0 - - 1 Amanda Smith
+?/. 20 c.2008G>A r.(?) p.(Ala670Thr) Unknown - likely pathogenic g.14794076C>T g.14641142C>T - - GUCY2C_000001 - - - - Germline - - - 0 - DNA PCR - - meconium ileus - - - - yes - - - 0 - - 1 Amanda Smith
-/. - c.2022C>T r.(?) p.(Ile674=) Unknown - benign g.14794062G>A g.14641128G>A GUCY2C(NM_004963.4):c.2022C>T (p.I674=) - GUCY2C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2158-8dup r.(=) p.(=) Unknown - benign g.14781687dup g.14628753dup GUCY2C(NM_004963.4):c.2158-17_2158-16insT - GUCY2C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2300G>A r.(?) p.(Arg767His) Unknown - VUS g.14778799C>T g.14625865C>T GUCY2C(NM_004963.3):c.2300G>A (p.(Arg767His)) - GUCY2C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2454A>G r.(?) p.(Glu818=) Unknown - likely benign g.14775086T>C g.14622152T>C GUCY2C(NM_004963.3):c.2454A>G (p.E818=) - GUCY2C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2662del r.(?) p.(Arg888Glyfs*4) Unknown - VUS g.14774090del - GUCY2C(NM_004963.3):c.2662delC (p.R888Gfs*4) - GUCY2C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 24 c.2782T>C r.(?) p.(Cys928Arg) Unknown - likely pathogenic g.14772238A>G g.14619304A>G - - GUCY2C_000002 - - - - Germline - - - 0 - DNA PCR - - - - - - - - - - - 0 - - 1 Amanda Smith
+?/. 24 c.2782T>C r.(?) p.(Cys928Arg) Unknown - likely pathogenic g.14772238A>G g.14619304A>G - - GUCY2C_000002 - - - - Germline - - - 0 - DNA PCR - - meconium ileus - - - - yes - - - 0 - - 1 Amanda Smith
?/. - c.3215A>G r.(?) p.(Tyr1072Cys) Unknown - VUS g.14766058T>C g.14613124T>C GUCY2C(NM_004963.3):c.3215A>G (p.Y1072C) - GUCY2C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*45494_*45496del r.(=) p.(=) Unknown - benign g.14720574_14720576del - PLBD1(NM_024829.6):c.74_76delTGC (p.L25del) - PLBD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*45497C>A r.(=) p.(=) Unknown - likely benign g.14720554G>T - PLBD1(NM_024829.6):c.74_77delTGCCinsTGCA (p.P26Q) - PLBD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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