Unique variants in the GNB3 gene

Information The variants shown are described using the NM_002075.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

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     
?/. 1 - c.? r.(?) p.(Val276Gly) - VUS g.? - - - ALX1_000001 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.58-19A>G r.(=) p.(=) - likely benign g.6950731A>G g.6841567A>G GNB3(NM_002075.4):c.58-19A>G - GNB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.80A>G r.(?) p.(Asp27Gly) - VUS g.6950772A>G - GNB3(NM_002075.3):c.80A>G (p.D27G) - GNB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.96+15C>T r.(=) p.(=) - likely benign g.6950803C>T - GNB3(NM_002075.4):c.96+15C>T - GNB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.96+16C>G r.(=) p.(=) - benign g.6950804C>G g.6841640C>G GNB3(NM_002075.4):c.96+16C>G - GNB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.141G>A r.(?) p.(Thr47=) - likely benign g.6952178G>A - GNB3(NM_002075.3):c.141G>A (p.T47=) - CDCA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.149C>T r.(?) p.(Thr50Met) - VUS g.6952186C>T - GNB3(NM_002075.4):c.149C>T (p.(Thr50Met)) - CDCA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 5 c.170_172del r.(?) p.(Lys57del) - pathogenic g.6952207_6952209del g.6843043_6843045del 170_172delAGA - GNB3_000002 - PubMed: Vincent 2016, Journal: Vincent 2016 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.177C>T r.(?) p.(Tyr59=) - benign g.6952214C>T g.6843050C>T GNB3(NM_002075.4):c.177C>T (p.Y59=) - CDCA3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5 c.200C>T r.(?) p.(Ser67Phe) - pathogenic g.6952237C>T g.6843073C>T - - GNB3_000003 likely homozygous; consanguineous parents deceased, no other family members available for testing PubMed: Vincent 2016, Journal: Vincent 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.203+16dup r.(=) p.(=) - VUS g.6952256dup - GNB3(NM_002075.4):c.203+16dup - CDCA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.240C>T r.(?) p.(Ile80=) - likely benign g.6952374C>T g.6843210C>T GNB3(NM_002075.3):c.240C>T (p.I80=) - CDCA3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.431-9C>T r.(=) p.(=) - likely benign g.6952787C>T - GNB3(NM_002075.4):c.431-9C>T - CDCA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.447C>T r.(?) p.(=) - likely benign g.6952812C>T - GNB3(NM_002075.4):c.447C>T (p.C149=) - CDCA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.449G>A r.(?) p.(Arg150His) - VUS g.6952814G>A - GNB3(NM_002075.4):c.449G>A (p.(Arg150His)) - CDCA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.476C>T r.(?) p.(Thr159Ile) - VUS g.6952841C>T g.6843677C>T GNB3(NM_002075.3):c.476C>T (p.T159I) - CDCA3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.619+1G>A r.spl p.? ACMG pathogenic g.6953063G>A - - - GNB3_000009 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
-?/. 1 - c.699+15C>A r.(=) p.(=) - likely benign g.6953157C>A - GNB3(NM_002075.4):c.699+15C>A - CDCA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.729G>A r.(?) p.(Thr243=) - likely benign g.6954779G>A g.6845615G>A GNB3(NM_002075.3):c.729G>A (p.T243=), GNB3(NM_002075.4):c.729G>A (p.T243=) - CDCA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.799G>A r.(?) p.(Glu267Lys) - likely benign g.6954849G>A - GNB3(NM_002075.2):c.799G>A (p.(Glu267Lys)) - CDCA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.852A>G r.(?) p.(Leu284=) - likely benign g.6954902A>G - GNB3(NM_002075.3):c.852A>G (p.L284=) - CDCA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.859G>A r.(?) p.(Ala287Thr) - VUS g.6954909G>A - GNB3(NM_002075.3):c.859G>A (p.A287T) - CDCA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.917-9C>T r.(=) p.(=) - likely benign g.6955947C>T g.6846783C>T GNB3(NM_002075.4):c.917-9C>T - GNB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.962C>T r.(?) p.(Thr321Ile) - VUS g.6956001C>T - GNB3(NM_002075.3):c.962C>T (p.T321I) - CDCA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.979G>A r.(?) p.(Val327Met) - likely benign g.6956018G>A g.6846854G>A CDCA3(NM_001297603.3):c.594C>T (p.H198=) - CDCA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 11 c.1017G>A r.(?) p.(Trp339*) - pathogenic g.6956056G>A g.6846892G>A - - GNB3_000001 - PubMed: Vincent 2016, Journal: Vincent 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.*8880C>T r.(=) p.(=) - likely benign g.6964942C>T - USP5(NM_001098536.2):c.261C>T (p.(Gly87=)) - CDCA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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