Full data view for gene GPR112

Information The variants shown are described using the NM_153834.3 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
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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.158G>A r.(?) p.(Ser53Asn) Unknown - likely benign g.135405024G>A g.136322865G>A GPR112(NM_153834.3):c.158G>A (p.(Ser53Asn)) - GPR112_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178G>A r.(?) p.(Asp60Asn) Unknown - VUS g.135405044G>A - ADGRG4(NM_153834.3):c.178G>A (p.D60N) - GPR112_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325T>C r.(?) p.(Ser109Pro) Unknown - likely benign g.135405191T>C g.136323032T>C GPR112(NM_153834.3):c.325T>C (p.(Ser109Pro)) - GPR112_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.325T>C r.(?) p.(Ser109Pro) Parent #1 - VUS g.135405191T>C g.136323032T>C - - GPR112_000047 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.331C>T r.(?) p.(Arg111Cys) Unknown - VUS g.135405197C>T - ADGRG4(NM_153834.3):c.331C>T (p.R111C) - GPR112_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340C>T r.(?) p.(Leu114=) Unknown - likely benign g.135405206C>T g.136323047C>T ADGRG4(NM_153834.3):c.340C>T (p.L114=) - GPR112_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>G r.(?) p.(Phe159Leu) Unknown - likely benign g.135405343C>G g.136323184C>G GPR112(NM_153834.3):c.477C>G (p.F159L) - GPR112_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508G>A r.(?) p.(Glu170Lys) Unknown - VUS g.135405374G>A g.136323215G>A GPR112(NM_153834.3):c.508G>A (p.(Glu170Lys)) - GPR112_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.513T>C r.(?) p.(Val171=) Unknown - likely benign g.135405379T>C - ADGRG4(NM_153834.3):c.513T>C (p.V171=) - GPR112_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588G>C r.(?) p.(Glu196Asp) Unknown - likely benign g.135405454G>C g.136323295G>C ADGRG4(NM_153834.3):c.588G>C (p.E196D) - GPR112_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.828A>G r.(?) p.(Ile276Met) Parent #1 - VUS g.135426693A>G g.136344534A>G - - GPR112_000075 recurrent, found 58 times PubMed: Tarpey 2009 - - Germline - 58/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 58 Lucy Raymond
?/. - c.1103C>A r.(?) p.(Pro368His) Parent #1 - VUS g.135426968C>A g.136344809C>A - - GPR112_000076 recurrent, found 86 times PubMed: Tarpey 2009 - - Germline - 86/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 86 Lucy Raymond
-?/. - c.1150G>A r.(?) p.(Val384Ile) Unknown - likely benign g.135427015G>A - ADGRG4(NM_153834.3):c.1150G>A (p.V384I) - GPR112_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1285C>T r.(?) p.(Pro429Ser) Unknown - VUS g.135427150C>T g.136344991C>T GPR112(NM_153834.3):c.1285C>T (p.(Pro429Ser)) - GPR112_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1420A>C r.(?) p.(Ile474Leu) Unknown - likely benign g.135427285A>C g.136345126A>C ADGRG4(NM_153834.3):c.1420A>C (p.I474L) - GPR112_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474C>T r.(?) p.(Pro492Ser) Unknown - likely benign g.135427339C>T g.136345180C>T GPR112(NM_153834.3):c.1474C>T (p.P492S) - GPR112_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1477T>C r.(?) p.(Leu493=) Unknown - likely benign g.135427342T>C g.136345183T>C ADGRG4(NM_153834.3):c.1477T>C (p.L493=) - GPR112_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1519T>C r.(?) p.(Leu507=) Unknown - likely benign g.135427384T>C - ADGRG4(NM_153834.3):c.1519T>C (p.L507=) - GPR112_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1666A>T r.(?) p.(Thr556Ser) Unknown - likely benign g.135427531A>T g.136345372A>T ADGRG4(NM_153834.3):c.1666A>T (p.T556S) - GPR112_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1828C>T r.(?) p.(Gln610Ter) Unknown - VUS g.135427693C>T g.136345534C>T GPR112(NM_153834.3):c.1828C>T (p.Q610*) - GPR112_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1910G>A r.(?) p.(Gly637Asp) Unknown - VUS g.135427775G>A g.136345616G>A GPR112(NM_153834.3):c.1910G>A (p.(Gly637Asp)) - GPR112_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1963A>G r.(?) p.(Ile655Val) Unknown - likely benign g.135427828A>G g.136345669A>G GPR112(NM_153834.3):c.1963A>G (p.I655V, p.(Ile655Val)) - GPR112_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1963A>G r.(?) p.(Ile655Val) Parent #1 - VUS g.135427828A>G g.136345669A>G - - GPR112_000056 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1963A>G r.(?) p.(Ile655Val) Unknown - likely benign g.135427828A>G g.136345669A>G GPR112(NM_153834.3):c.1963A>G (p.I655V, p.(Ile655Val)) - GPR112_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2017A>G r.(?) p.(Ile673Val) Unknown - VUS g.135427882A>G g.136345723A>G GPR112(NM_153834.3):c.2017A>G (p.I673V) - GPR112_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2209G>T r.(?) p.(Ala737Ser) Parent #1 - VUS g.135428074G>T g.136345915G>T - - GPR112_000077 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2963C>T r.(?) p.(Thr988Met) Unknown - VUS g.135428828C>T g.136346669C>T GPR112(NM_153834.3):c.2963C>T (p.(Thr988Met)) - GPR112_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3209C>A r.(?) p.(Thr1070Asn) Unknown - VUS g.135429074C>A g.136346915C>A ADGRG4(NM_153834.3):c.3209C>A (p.T1070N) - GPR112_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3252G>A r.(=) p.(=) Parent #1 - likely benign g.135429117G>A g.136346958G>A L1084L - GPR112_000078 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.3365C>T r.(?) p.(Ala1122Val) Unknown - VUS g.135429230C>T g.136347071C>T ADGRG4(NM_153834.3):c.3365C>T (p.A1122V), GPR112(NM_153834.3):c.3365C>T (p.(Ala1122Val)) - GPR112_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3365C>T r.(?) p.(Ala1122Val) Unknown - likely benign g.135429230C>T g.136347071C>T ADGRG4(NM_153834.3):c.3365C>T (p.A1122V), GPR112(NM_153834.3):c.3365C>T (p.(Ala1122Val)) - GPR112_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3495G>A r.(?) p.(Thr1165=) Unknown - likely benign g.135429360G>A - ADGRG4(NM_153834.3):c.3495G>A (p.T1165=) - GPR112_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3604A>G r.(?) p.(Thr1202Ala) Unknown - likely benign g.135429469A>G g.136347310A>G ADGRG4(NM_153834.3):c.3604A>G (p.T1202A) - GPR112_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3610A>T r.(?) p.(Thr1204Ser) Parent #1 - VUS g.135429475A>T g.136347316A>T - - GPR112_000061 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.3615A>G r.(?) p.(Thr1205=) Unknown - likely benign g.135429480A>G - ADGRG4(NM_153834.3):c.3615A>G (p.T1205=) - GPR112_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3638C>A r.(?) p.(Thr1213Asn) Maternal (inferred) - VUS g.135429503C>A g.136347344C>A - - GPR112_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3638C>A r.(?) p.(Thr1213Asn) Maternal (inferred) - VUS g.135429503C>A g.136347344C>A - - GPR112_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3638C>A r.(?) p.(Thr1213Asn) Parent #1 - VUS g.135429503C>A g.136347344C>A - - GPR112_000039 recurrent, found 84 times PubMed: Tarpey 2009 - - Germline - 84/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 84 Lucy Raymond
?/. - c.3697T>C r.(?) p.(Ser1233Pro) Parent #1 - VUS g.135429562T>C g.136347403T>C - - GPR112_000079 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.4179T>C r.(?) p.(=) Maternal (inferred) - VUS g.135430044T>C g.136347885T>C - - GPR112_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.4179T>C r.(?) p.(=) Maternal (inferred) - VUS g.135430044T>C g.136347885T>C - - GPR112_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.4179T>C r.(=) p.(=) Parent #1 - likely benign g.135430044T>C g.136347885T>C T1393T - GPR112_000030 recurrent, found 94 times PubMed: Tarpey 2009 - - Germline - 94/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 94 Lucy Raymond
?/. - c.4618T>C r.(?) p.(Ser1540Pro) Maternal (inferred) - VUS g.135430483T>C g.136348324T>C - - GPR112_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.4618T>C r.(?) p.(Ser1540Pro) Maternal (inferred) - VUS g.135430483T>C g.136348324T>C - - GPR112_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.4618T>C r.(?) p.(Ser1540Pro) Parent #1 - VUS g.135430483T>C g.136348324T>C - - GPR112_000033 recurrent, found 97 times PubMed: Tarpey 2009 - - Germline - 97/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 97 Lucy Raymond
-?/. - c.4633C>G r.(?) p.(Pro1545Ala) Unknown - likely benign g.135430498C>G g.136348339C>G ADGRG4(NM_153834.3):c.4633C>G (p.P1545A) - GPR112_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4639T>A r.(?) p.(Cys1547Ser) Parent #1 - VUS g.135430504T>A g.136348345T>A - - GPR112_000080 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.4639T>A r.(?) p.(Cys1547Ser) Unknown - likely benign g.135430504T>A g.136348345T>A ADGRG4(NM_153834.4):c.4639T>A (p.C1547S), GPR112(NM_153834.3):c.4639T>A (p.(Cys1547Ser)) - GPR112_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4639T>A r.(?) p.(Cys1547Ser) Unknown - likely benign g.135430504T>A g.136348345T>A ADGRG4(NM_153834.4):c.4639T>A (p.C1547S), GPR112(NM_153834.3):c.4639T>A (p.(Cys1547Ser)) - GPR112_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4928C>T r.(?) p.(Thr1643Met) Unknown - likely benign g.135430793C>T g.136348634C>T GPR112(NM_153834.3):c.4928C>T (p.T1643M) - GPR112_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4938C>G r.(=) p.(=) Parent #1 - likely benign g.135430803C>G g.136348644C>G L1646L - GPR112_000081 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
-?/. - c.5147G>A r.(?) p.(Gly1716Asp) Unknown - likely benign g.135431012G>A g.136348853G>A GPR112(NM_153834.3):c.5147G>A (p.(Gly1716Asp)) - GPR112_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5174C>T r.(?) p.(Ser1725Phe) Unknown - likely benign g.135431039C>T g.136348880C>T GPR112(NM_153834.3):c.5174C>T (p.(Ser1725Phe)) - GPR112_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5182A>C r.(?) p.(Thr1728Pro) Parent #1 - VUS g.135431047A>C g.136348888A>C - - GPR112_000082 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
?/. - c.5371T>C r.(?) p.(Phe1791Leu) Maternal (inferred) - VUS g.135431236T>C g.136349077T>C - - GPR112_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.5371T>C r.(?) p.(Phe1791Leu) Maternal (inferred) - VUS g.135431236T>C g.136349077T>C - - GPR112_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.5371T>C r.(?) p.(Phe1791Leu) Parent #1 - VUS g.135431236T>C g.136349077T>C - - GPR112_000036 recurrent, found 97 times PubMed: Tarpey 2009 - - Germline - 97/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 97 Lucy Raymond
?/. - c.5493C>T r.(?) p.(=) Maternal (inferred) - VUS g.135431358C>T g.136349199C>T - - GPR112_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.5493C>T r.(?) p.(=) Maternal (inferred) - VUS g.135431358C>T g.136349199C>T - - GPR112_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.5493C>T r.(=) p.(=) Parent #1 - likely benign g.135431358C>T g.136349199C>T P1831P - GPR112_000019 recurrent, found 97 times PubMed: Tarpey 2009 - - Germline - 97/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 97 Lucy Raymond
-?/. - c.5517A>G r.(=) p.(=) Parent #1 - likely benign g.135431382A>G g.136349223A>G S1839S - GPR112_000083 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.5575C>G r.(?) p.(Gln1859Glu) Unknown - likely benign g.135431440C>G g.136349281C>G ADGRG4(NM_153834.3):c.5575C>G (p.Q1859E) - GPR112_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.5591C>T r.(?) p.(Pro1864Leu) Unknown - VUS g.135431456C>T g.136349297C>T ADGRG4(NM_153834.3):c.5591C>T (p.P1864L) - GPR112_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5592A>G r.(?) p.(Pro1864=) Unknown - likely benign g.135431457A>G - ADGRG4(NM_153834.3):c.5592A>G (p.P1864=) - GPR112_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5617A>G r.(?) p.(Ser1873Gly) Unknown - VUS g.135431482A>G g.136349323A>G ADGRG4(NM_153834.3):c.5617A>G (p.S1873G) - GPR112_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6208C>T r.(?) p.(Arg2070*) Maternal (inferred) - VUS g.135432073C>T g.136349914C>T - - GPR112_000074 - - - - Germline - - - 0 - DNA SEQ-NG blood - - - - - M no - - - 0 - - 1 Karine Poirier
?/. - c.6557C>T r.(?) p.(Ser2186Phe) Unknown - VUS g.135432422C>T g.136350263C>T ADGRG4(NM_153834.3):c.6557C>T (p.S2186F) - GPR112_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6656C>G r.(?) p.(Thr2219Ser) Unknown - likely benign g.135432521C>G g.136350362C>G ADGRG4(NM_153834.3):c.6656C>G (p.T2219S) - GPR112_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6823-21del r.(=) p.(=) Maternal (inferred) - VUS g.135435475del g.136353316del - - GPR112_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.6823-21del r.(=) p.(=) Maternal (inferred) - VUS g.135435475del g.136353316del - - GPR112_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.6832A>G r.(?) p.(Ile2278Val) Unknown - likely benign g.135435505A>G - ADGRG4(NM_153834.3):c.6832A>G (p.I2278V) - GPR112_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6927+64A>G r.(=) p.(=) Maternal (inferred) - VUS g.135438388A>G g.136356229A>G - - GPR112_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.6927+64A>G r.(=) p.(=) Maternal (inferred) - VUS g.135438388A>G g.136356229A>G - - GPR112_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.6927+215G>T r.(=) p.(=) Maternal (inferred) - VUS g.135438539G>T g.136356380G>T - - GPR112_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.6927+215G>T r.(=) p.(=) Maternal (inferred) - VUS g.135438539G>T g.136356380G>T - - GPR112_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.6928-325G>T r.(=) p.(=) Maternal (inferred) - VUS g.135439538G>T g.136357379G>T - - GPR112_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.7074A>G r.(?) p.(Thr2358=) Unknown - likely benign g.135441544A>G - ADGRG4(NM_153834.3):c.7074A>G (p.T2358=) - GPR112_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7211C>G r.(?) p.(Thr2404Ser) Parent #1 - VUS g.135443680C>G g.136361521C>G - - GPR112_000084 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.7211C>G r.(?) p.(Thr2404Ser) Unknown - likely benign g.135443680C>G g.136361521C>G GPR112(NM_153834.3):c.7211C>G (p.(Thr2404Ser)) - GPR112_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7265C>T r.(?) p.(Ala2422Val) Unknown - VUS g.135443734C>T g.136361575C>T GPR112(NM_153834.3):c.7265C>T (p.A2422V) - GPR112_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.7278-279T>C r.(=) p.(=) Maternal (inferred) - VUS g.135445357T>C g.136363198T>C - - GPR112_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.7332A>G r.(?) p.(Gln2444=) Unknown - likely benign g.135445690A>G g.136363531A>G ADGRG4(NM_153834.3):c.7332A>G (p.Q2444=) - GPR112_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7558G>A r.(?) p.(Val2520Ile) Unknown - likely benign g.135453648G>A - ADGRG4(NM_153834.3):c.7558G>A (p.V2520I) - GPR112_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7938C>T r.(=) p.(=) Parent #1 - likely benign g.135474417C>T g.136392258C>T T2646T - GPR112_000085 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.7941C>A r.(?) p.(=) Maternal (inferred) - VUS g.135474420C>A g.136392261C>A - - GPR112_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.7941C>A r.(?) p.(=) Maternal (inferred) - VUS g.135474420C>A g.136392261C>A - - GPR112_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.7941C>A r.(=) p.(=) Parent #1 - likely benign g.135474420C>A g.136392261C>A T2647T - GPR112_000002 recurrent, found 124 times PubMed: Tarpey 2009 - - Germline - 124/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 124 Lucy Raymond
?/. - c.7965_7967del r.(?) p.(Asp2657del) Maternal (inferred) - VUS g.135474444_135474446del g.136392285_136392287del - - GPR112_000044 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.7965_7967del r.(?) p.(Asp2657del) Maternal (inferred) - VUS g.135474444_135474446del g.136392285_136392287del - - GPR112_000044 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.7969_7971del r.(?) p.(Asp2657del) Maternal (inferred) - VUS g.135474448_135474450del g.136392289_136392291del - - GPR112_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.7969_7971del r.(?) p.(Asp2657del) Maternal (inferred) - VUS g.135474448_135474450del g.136392289_136392291del - - GPR112_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.7969_7971del r.(?) p.(Asp2657del) Parent #1 - VUS g.135474448_135474450del g.136392289_136392291del 7969_7971delGAT - GPR112_000007 recurrent, found 125 times PubMed: Tarpey 2009 - - Germline - 125/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 125 Lucy Raymond
?/. - c.8102C>T r.(?) p.(Ser2701Leu) Unknown - VUS g.135477570C>T g.136395411C>T GPR112(NM_153834.3):c.8102C>T (p.(Ser2701Leu)) - GPR112_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.8144T>C r.(?) p.(Ile2715Thr) Unknown - likely benign g.135477612T>C g.136395453T>C GPR112(NM_153834.3):c.8144T>C (p.I2715T) - GPR112_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.8231C>T r.(?) p.(Ala2744Val) Unknown - likely benign g.135480086C>T g.136397927C>T ADGRG4(NM_153834.3):c.8231C>T (p.A2744V) - GPR112_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8271T>C r.(?) p.(=) Maternal (inferred) - VUS g.135480126T>C g.136397967T>C - - GPR112_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.8271T>C r.(?) p.(=) Maternal (inferred) - VUS g.135480126T>C g.136397967T>C - - GPR112_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.8271T>C r.(=) p.(=) Parent #1 - likely benign g.135480126T>C g.136397967T>C F2757F - GPR112_000009 recurrent, found 118 times PubMed: Tarpey 2009 - - Germline - 118/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 118 Lucy Raymond
?/. - c.8307-51del r.(=) p.(=) Unknown - VUS g.135481956del g.136399797del - - GPR112_000046 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.8434G>A r.(?) p.(Ala2812Thr) Unknown - likely benign g.135482134G>A g.136399975G>A ADGRG4(NM_153834.3):c.8434G>A (p.A2812T) - GPR112_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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