Full data view for gene PAPPA2

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_020318.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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.380C>T r.(?) p.(Ala127Val) Unknown - likely benign g.176525838C>T - PAPPA2(NM_020318.2):c.380C>T (p.(Ala127Val)) - PAPPA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.512C>G r.(?) p.(Thr171Ser) Unknown - likely benign g.176525970C>G - PAPPA2(NM_020318.2):c.512C>G (p.(Thr171Ser)) - PAPPA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516_518del r.(?) p.(Thr174del) Unknown - VUS g.176525974_176525976del - PAPPA2(NM_020318.3):c.516_518del (p.(Thr174del)) - PAPPA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689G>C r.(?) p.(Arg230Thr) Unknown - likely benign g.176526147G>C - PAPPA2(NM_020318.2):c.689G>C (p.(Arg230Thr)) - PAPPA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.837_841delinsCC r.(?) p.(Ala280_Glu281delinsGln) Unknown - VUS g.176526295_176526299delinsCC - PAPPA2(NM_020318.3):c.837_841delinsCC (p.(Ala280_Glu281delinsGln)) - PAPPA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850C>T r.(?) p.(Arg284Trp) Unknown - VUS g.176526308C>T - - - PAPPA2_000057 - - - rs199723174 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941A>T r.(?) p.(His314Leu) Unknown - VUS g.176563681A>T - PAPPA2(NM_020318.2):c.941A>T (p.(His314Leu)) - PAPPA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976C>T r.(?) p.(Arg326Cys) Unknown - VUS g.176563716C>T - PAPPA2(NM_020318.3):c.976C>T (p.(Arg326Cys)) - PAPPA2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032C>T r.(?) p.(Thr344=) Unknown - likely benign g.176563772C>T - PAPPA2(NM_020318.2):c.1032C>T (p.T344=, p.(Thr344=)) - PAPPA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032C>T r.(?) p.(Thr344=) Unknown - likely benign g.176563772C>T - PAPPA2(NM_020318.2):c.1032C>T (p.T344=, p.(Thr344=)) - PAPPA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1033G>A r.(?) p.(Asp345Asn) Unknown - VUS g.176563773G>A - PAPPA2(NM_020318.3):c.1033G>A (p.(Asp345Asn)) - PAPPA2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039G>A r.(?) p.(Val347Met) Unknown - likely benign g.176563779G>A g.176594643G>A PAPPA2(NM_020318.2):c.1039G>A (p.(Val347Met)) - PAPPA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072C>T r.(?) p.(Arg358Cys) Unknown - VUS g.176563812C>T - PAPPA2(NM_020318.3):c.1072C>T (p.(Arg358Cys)) - PAPPA2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1133T>C r.(?) p.(Leu378Pro) Unknown - likely pathogenic g.176563873T>C - - - PAPPA2_000038 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1240G>C r.(?) p.(Glu414Gln) Unknown - likely benign g.176563980G>C g.176594844G>C PAPPA2(NM_020318.2):c.1240G>C (p.(Glu414Gln)) - PAPPA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1258C>T r.(?) p.(Arg420Cys) Unknown - VUS g.176563998C>T - PAPPA2(NM_020318.2):c.1258C>T (p.(Arg420Cys)) - PAPPA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1416T>G r.(?) p.(Asp472Glu) Unknown - likely benign g.176564156T>G g.176595020T>G PAPPA2(NM_020318.2):c.1416T>G (p.(Asp472Glu)) - PAPPA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1475C>T r.(?) p.(Ser492Leu) Unknown - likely benign g.176564215C>T g.176595079C>T PAPPA2(NM_020318.2):c.1475C>T (p.(Ser492Leu)) - PAPPA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559G>A r.(?) p.(Arg520Gln) Unknown - VUS g.176564299G>A - PAPPA2(NM_020318.2):c.1559G>A (p.(Arg520Gln)) - PAPPA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1750G>A r.(?) p.(Val584Met) Unknown - likely benign g.176564490G>A - PAPPA2(NM_020318.2):c.1750G>A (p.(Val584Met)) - PAPPA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1928_1929insTA r.(?) p.(Cys644Thrfs*25) Both (homozygous) - pathogenic g.176564668_176564669insTA g.176595532_176595533insTA 1927_1928insAT (D643fs25*) - PAPPA2_000001 - PubMed: Dauber 2016, Journal: Dauber 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - stature, short 26902202-Fam1 PubMed: Dauber 2016, Journal: Dauber 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Spain Spanish - - - - 2 Johan den Dunnen
+/. 3 c.1928_1929insTA r.(?) p.Cys644Thrfs*25 Unknown - NA g.176564668_176564669insTA g.176595532_176595533insTA - - PAPPA2_000001 cDNA expression cloning in HEK293 cells showed absent proteolytic activity toward IGFBP-3 or IGFBP-5 and no PAPPA2 protein on WB PubMed: Dauber 2016, Journal: Dauber 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1931G>T r.(?) p.(Cys644Phe) Unknown - VUS g.176564671G>T - - - PAPPA2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1944G>A r.(?) p.(Gln648=) Unknown - likely benign g.176564684G>A - PAPPA2(NM_020318.2):c.1944G>A (p.Q648=) - PAPPA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1958G>A r.(?) p.(Arg653His) Unknown - likely benign g.176564698G>A - PAPPA2(NM_020318.2):c.1958G>A (p.(Arg653His)) - PAPPA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1992G>A r.(?) p.(Arg664=) Unknown - VUS g.176640106G>A - PAPPA2(NM_020318.2):c.1992G>A (p.(=)) - PAPPA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2336A>G r.(?) p.(Lys779Arg) Unknown - VUS g.176659471A>G - PAPPA2(NM_020318.2):c.2336A>G (p.(Lys779Arg)) - PAPPA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2375C>T r.(?) p.(Thr792Ile) Unknown - VUS g.176659510C>T - PAPPA2(NM_020318.2):c.2375C>T (p.(Thr792Ile)) - PAPPA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2390G>A r.(?) p.(Arg797His) Unknown - likely benign g.176659525G>A - PAPPA2(NM_020318.2):c.2390G>A (p.R797H) - PAPPA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2431+46G>T r.(=) p.(=) Unknown - VUS g.176659612G>T - PAPPA2(NM_021936.2):c.2477G>T (p.G826V) - PAPPA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2473C>T r.(?) p.(Arg825Ter) Unknown - likely pathogenic g.176661303C>T g.176692167C>T PAPPA2(NM_020318.2):c.2473C>T (p.(Arg825Ter)) - PAPPA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2539C>T r.(?) p.(Pro847Ser) Unknown - VUS g.176661369C>T - PAPPA2(NM_020318.2):c.2539C>T (p.P847S) - PAPPA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3053C>T r.(?) p.(Ser1018Leu) Unknown - benign g.176668542C>T - PAPPA2(NM_020318.2):c.3053C>T (p.(Ser1018Leu)) - PAPPA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3095A>T r.(?) p.(Asp1032Val) Unknown - likely pathogenic g.176668584A>T - PAPPA2(NM_020318.2):c.3095A>T (p.(Asp1032Val)) - PAPPA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.3098C>T r.(?) p.(Ala1033Val) Both (homozygous) - pathogenic g.176668587C>T g.176699451C>T - - PAPPA2_000002 - PubMed: Dauber 2016, Journal: Dauber 2016 - - Germline yes - - - - DNA SEQ - - stature, short 26902202-Fam2 PubMed: Dauber 2016, Journal: Dauber 2016 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs F;M yes Palestine Palestinian - - - - 3 Johan den Dunnen
+/. 8 c.3098C>T r.(?) p.Ala1033Val Unknown - NA g.176668587C>T g.176699451C>T - - PAPPA2_000002 cDNA expression cloning in HEK293 cells showed absent proteolytic activity toward IGFBP-3 or IGFBP-5 and redcued PAPPA2 protein on WB PubMed: Dauber 2016, Journal: Dauber 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3230C>T r.(?) p.(Thr1077Met) Unknown - likely benign g.176668719C>T g.176699583C>T PAPPA2(NM_020318.2):c.3230C>T (p.(Thr1077Met)) - PAPPA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3236+10G>A r.(=) p.(=) Unknown - VUS g.176668735G>A - PAPPA2(NM_020318.3):c.3236+10G>A - PAPPA2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3309G>A r.(?) p.(Ser1103=) Unknown - likely benign g.176671815G>A - PAPPA2(NM_020318.2):c.3309G>A (p.S1103=, p.(Ser1103=)) - PAPPA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3309G>A r.(?) p.(Ser1103=) Unknown - likely benign g.176671815G>A - PAPPA2(NM_020318.2):c.3309G>A (p.S1103=, p.(Ser1103=)) - PAPPA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3337C>T r.(?) p.(Pro1113Ser) Unknown - likely benign g.176671843C>T - PAPPA2(NM_020318.2):c.3337C>T (p.(Pro1113Ser)) - PAPPA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3365+10_3365+11insG r.(=) p.(=) Unknown - likely benign g.176671881_176671882insG - PAPPA2(NM_020318.3):c.3365+10_3365+11insG - PAPPA2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3650T>C r.(?) p.(Leu1217Pro) Unknown - likely benign g.176679311T>C - PAPPA2(NM_020318.2):c.3650T>C (p.(Leu1217Pro)) - PAPPA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3686A>G r.(?) p.(His1229Arg) Unknown - likely benign g.176681005A>G - PAPPA2(NM_020318.2):c.3686A>G (p.(His1229Arg)) - PAPPA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3798+8G>T r.(=) p.(=) Unknown - likely benign g.176681125G>T - PAPPA2(NM_020318.3):c.3798+8G>T - PAPPA2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3822G>A r.(?) p.(=) Unknown - benign g.176708785G>A - PAPPA2(NM_020318.3):c.3822G>A (p.(Glu1274=)) - PAPPA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4008C>G r.(?) p.(His1336Gln) Unknown - likely benign g.176709189C>G - PAPPA2(NM_020318.2):c.4008C>G (p.(His1336Gln)) - PAPPA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4063G>T r.(?) p.(Val1355Leu) Unknown - VUS g.176709244G>T - PAPPA2(NM_020318.2):c.4063G>T (p.(Val1355Leu)) - PAPPA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4128G>C r.(?) p.(Glu1376Asp) Unknown - likely benign g.176709309G>C - PAPPA2(NM_020318.2):c.4128G>C (p.(Glu1376Asp)) - PAPPA2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4152-4C>T r.spl? p.? Unknown - likely benign g.176734798C>T - PAPPA2(NM_020318.2):c.4152-4C>T (p.?) - PAPPA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4186T>C r.(?) p.(Cys1396Arg) Unknown - VUS g.176734836T>C - PAPPA2(NM_020318.2):c.4186T>C (p.(Cys1396Arg)) - PAPPA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4274G>C r.(?) p.(Arg1425Thr) Unknown - VUS g.176734924G>C g.176765788G>C PAPPA2(NM_020318.2):c.4274G>C (p.(Arg1425Thr)) - PAPPA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4456C>G r.(?) p.(Leu1486Val) Unknown - VUS g.176738875C>G g.176769739C>G PAPPA2(NM_020318.2):c.4456C>G (p.(Leu1486Val)) - PAPPA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4763G>C r.(?) p.(Gly1588Ala) Unknown - likely benign g.176758992G>C g.176789856G>C PAPPA2(NM_020318.2):c.4763G>C (p.(Gly1588Ala)) - PAPPA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4849C>A r.(?) p.(Gln1617Lys) Unknown - likely benign g.176759078C>A g.176789942C>A PAPPA2(NM_020318.2):c.4849C>A (p.(Gln1617Lys)) - PAPPA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4851G>C r.(?) p.(Gln1617His) Unknown - likely benign g.176759080G>C g.176789944G>C PAPPA2(NM_020318.2):c.4851G>C (p.(Gln1617His)) - PAPPA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4901C>T r.(?) p.(Thr1634Ile) Unknown - VUS g.176760499C>T - PAPPA2(NM_020318.2):c.4901C>T (p.(Thr1634Ile)) - PAPPA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4970C>G r.(?) p.(Pro1657Arg) Unknown - likely benign g.176760568C>G g.176791432C>G PAPPA2(NM_020318.2):c.4970C>G (p.(Pro1657Arg)) - PAPPA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5050C>T r.(?) p.(Pro1684Ser) Unknown - VUS g.176762725C>T - PAPPA2(NM_020318.2):c.5050C>T (p.(Pro1684Ser)) - PAPPA2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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