All variants in the GPR64 gene

Information The variants shown are described using the NM_001079858.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-46-183G>A r.(=) p.(=) - VUS g.19101047C>T g.19082929C>T - - GPR64_000008 - - - - Germline - - - - - Yu Sun
?/. - c.-46-183G>A r.(=) p.(=) - VUS g.19101047C>T g.19082929C>T - - GPR64_000008 - - - - Germline - - - - - Yu Sun
-?/. - c.60G>A r.(?) p.(Thr20=) - likely benign g.19086893C>T g.19068775C>T ADGRG2(NM_001079858.2):c.60G>A (p.T20=) - GPR64_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 5 c.191A>G r.(?) p.(Asn64Ser) - VUS g.19055718T>C g.19037600T>C N64S - GPR64_000023 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.358+159T>C r.(=) p.(=) - VUS g.19048943A>G g.19030825A>G - - GPR64_000005 - - - - Germline - - - - - Yu Sun
?/. - c.358+159T>C r.(=) p.(=) - VUS g.19048943A>G g.19030825A>G - - GPR64_000005 - - - - Germline - - - - - Yu Sun
-?/. - c.443C>T r.(?) p.(Thr148Ile) - likely benign g.19045364G>A g.19027246G>A GPR64(NM_001079858.2):c.443C>T (p.T148I, p.(Thr148Ile)) - GPR64_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.443C>T r.(?) p.(Thr148Ile) - VUS g.19045364G>A g.19027246G>A GPR64(NM_001079858.2):c.443C>T (p.T148I, p.(Thr148Ile)) - GPR64_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.451C>T r.(?) p.(Leu151=) - likely benign g.19045356G>A g.19027238G>A ADGRG2(NM_001079858.2):c.451C>T (p.L151=) - GPR64_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.511-7G>A r.(=) p.(=) - likely benign g.19041578C>T g.19023460C>T GPR64(NM_001079858.2):c.511-7G>A (p.(=)) - GPR64_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.533C>A r.(?) p.(Thr178Lys) - VUS g.19041549G>T g.19023431G>T GPR64(NM_001079858.2):c.533C>A (p.(Thr178Lys)) - GPR64_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.710+4T>C r.spl? p.? - likely benign g.19037713A>G g.19019595A>G GPR64(NM_001079858.2):c.710+4T>C (p.?) - GPR64_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.710+51del r.(=) p.(=) - VUS g.19037666del g.19019548del - - GPR64_000014 - - - - Germline - - - - - Yu Sun
?/. - c.710+51del r.(=) p.(=) - VUS g.19037666del g.19019548del - - GPR64_000014 - - - - Germline - - - - - Yu Sun
-?/. - c.909A>G r.(?) p.(Ser303=) - likely benign g.19031994T>C g.19013876T>C ADGRG2(NM_001079858.2):c.909A>G (p.S303=) - GPR64_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.917C>G r.(?) p.(Pro306Arg) - VUS g.19031986G>C g.19013868G>C ADGRG2(NM_001079858.2):c.917C>G (p.P306R) - GPR64_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1567G>T r.(?) p.(Asp523Tyr) - VUS g.19025475C>A g.19007357C>A ADGRG2(NM_001079858.2):c.1567G>T (p.D523Y) - GPR64_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 20 c.1605G>A r.(?) p.? - likely benign g.19025437C>T - S535S - GPR64_000022 recurrent, found 3 times Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.1690-43del r.(=) p.(=) - VUS g.19024426del g.19006308del - - GPR64_000012 - - - - Germline - - - - - Yu Sun
?/. - c.1690-43del r.(=) p.(=) - VUS g.19024426del g.19006308del - - GPR64_000012 - - - - Germline - - - - - Yu Sun
?/. - c.1909G>A r.(?) p.(Gly637Arg) - VUS g.19022928C>T g.19004810C>T ADGRG2(NM_001079858.2):c.1909G>A (p.G637R) - GPR64_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 24 c.2007G>C r.(?) p.? - likely benign g.19021187C>G - L669L - GPR64_000021 found once, nonrecurrent change Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2008G>A r.(?) p.(Ala670Thr) - likely benign g.19021186C>T - ADGRG2(NM_001079858.2):c.2008G>A (p.A670T) - GPR64_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2016G>C r.(?) p.(Leu672=) - likely benign g.19021178C>G - ADGRG2(NM_001079858.2):c.2016G>C (p.L672=) - GPR64_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2231-33_2231-32dup r.(=) p.(=) - VUS g.19018128_19018129dup g.19000010_19000011dup - - GPR64_000011 - - - - Germline - - - - - Yu Sun
-?/. - c.2655T>C r.(?) p.(Asn885=) - likely benign g.19014230A>G - ADGRG2(NM_001079858.2):c.2655T>C (p.N885=) - GPR64_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2675G>A r.(?) p.(Arg892Gln) - VUS g.19014210C>T g.18996092C>T GPR64(NM_001079858.2):c.2675G>A (p.(Arg892Gln)) - GPR64_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2968A>G r.(?) p.(Lys990Glu) - VUS g.19009068T>C g.18990950T>C ADGRG2(NM_001079858.2):c.2968A>G (p.K990E) - GPR64_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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