Full data view for gene NPR2

Information The variants shown are described using the NM_003995.3 transcript reference sequence.

285 entries on 3 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.18T>C r.(?) p.(Leu6=) Unknown - benign g.35792423T>C g.35792426T>C NPR2(NM_003995.4):c.18T>C (p.L6=) - NPR2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53G>C r.(?) p.(Arg18Pro) Unknown - VUS g.35792458G>C - NPR2(NM_003995.3):c.53G>C (p.(Arg18Pro)) - NPR2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64G>T r.(?) p.(Ala22Ser) Unknown - likely benign g.35792469G>T - NPR2(NM_003995.3):c.64G>T (p.(Ala22Ser)) - NPR2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>A r.(?) p.(Val30=) Unknown - likely benign g.35792495G>A g.35792498G>A NPR2(NM_003995.3):c.90G>A (p.(Val30=)), NPR2(NM_003995.4):c.90G>A (p.V30=) - NPR2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>A r.(?) p.(Val30=) Unknown - likely benign g.35792495G>A - NPR2(NM_003995.3):c.90G>A (p.(Val30=)), NPR2(NM_003995.4):c.90G>A (p.V30=) - NPR2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.94C>A r.(?) p.(Pro32Thr) Both (homozygous) - pathogenic g.35792499C>A g.35792502C>A - - NPR2_000017 - PubMed: Bartels 2004, OMIM:var0001 - rs28931581 Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat1 PubMed: Bartels 2004 family, heterozygous carriers have heights below mean for matched controls - yes Brazil Brazil - - - - 1 Irfan Ullah
+/. - c.109_119del r.(?) p.(Ser37Glyfs*37) Unknown - pathogenic g.35792514_35792524del - NPR2(NM_003995.3):c.109_119del (p.(Ser37GlyfsTer37)) - NPR2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>G r.(?) p.(Pro47Arg) Unknown - VUS g.35792545C>G - NPR2(NM_003995.3):c.140C>G (p.(Pro47Arg)) - NPR2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.142G>T r.(?) p.(Ala48Ser) Unknown - likely pathogenic g.35792547G>T g.35792550G>T - - NPR2_000005 - - - - Germline - 1/1872 cases - - - DNA SEQ, SEQ-NG-I - - stature, short - - - - - - - - - - - 1 Sophie Ran Wang
-?/. - c.207C>T r.(?) p.(Ser69=) Unknown - likely benign g.35792612C>T - NPR2(NM_003995.3):c.207C>T (p.(Ser69=)) - NPR2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224G>T r.(?) p.(Cys75Phe) Unknown - VUS g.35792629G>T - NPR2(NM_003995.3):c.224G>T (p.(Cys75Phe)) - NPR2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.226T>C r.(?) p.(Ser76Pro) Paternal (confirmed) - pathogenic g.35792631T>C g.35792634T>C - - NPR2_000046 - PubMed: Vasques 2013 - - Germline yes - - - - DNA SEQ Blood - stature, short 24001744-FamAPatII1 PubMed: Vasques 2013 2-generation family, affected father and daughter/son M - - - - - - - 3 Irfan Ullah
+?/. - c.226T>C r.(?) p.(Ser76Pro) Unknown - likely pathogenic g.35792631T>C - - - NPR2_000046 - - - rs796065355 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.239C>A r.(?) p.(Ala80Glu) Unknown - likely pathogenic g.35792644C>A g.35792647C>A NPR2(NM_003995.3):c.239C>A (p.(Ala80Glu)) - NPR2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>A r.(?) p.(Ala80Glu) Unknown - VUS g.35792644C>A - NPR2(NM_003995.3):c.239C>A (p.(Ala80Glu)) - NPR2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240A>T r.(?) p.(=) Unknown - likely benign g.35792645A>T - NPR2(NM_003995.4):c.240A>T (p.A80=) - NPR2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Pro81=) Unknown - likely benign g.35792648G>A - NPR2(NM_003995.3):c.243G>A (p.(Pro81=)) - NPR2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244C>A r.(?) p.(Leu82Met) Unknown - VUS g.35792649C>A - NPR2(NM_003995.3):c.244C>A (p.(Leu82Met)) - NPR2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.277C>T r.(?) p.(Pro93Ser) Maternal (confirmed) - likely pathogenic g.35792682C>T g.35792685C>T - - NPR2_000052 - - - - Germline yes - - - - DNA SEQ-NG-I - - AMD1 - - - - - - - - - - - 1 Dong Li
-?/. - c.288G>A r.(?) p.(Leu96=) Unknown - likely benign g.35792693G>A - NPR2(NM_003995.3):c.288G>A (p.(Leu96=)) - NPR2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.298G>C r.(?) p.(Gly100Arg) Unknown - VUS g.35792703G>C g.35792706G>C NPR2(NM_003995.3):c.298G>C (p.(Gly100Arg)) - NPR2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.316G>T r.(?) p.(Ala106Ser) Unknown - likely benign g.35792721G>T g.35792724G>T - - NPR2_000010 - - - - Unknown - 1/1872 cases - - - DNA SEQ, SEQ-NG-I - - stature, short - - - - - - - - - - - 1 Sophie Ran Wang
+/. 1 c.328C>T r.(?) p.(Arg110Cys) Maternal (confirmed) - pathogenic g.35792733C>T g.35792736C>T - - NPR2_000047 - PubMed: Amano 2014 - - Germline yes - - - - DNA ? - - stature, short 24471569-FamPat1 PubMed: Amano 2014 2-generation family, affected mother/son M - Japan Japanese - - - - 2 Irfan Ullah
+/. 1 c.343T>G r.(?) p.(Trp115Gly) Both (homozygous) - pathogenic g.35792748T>G g.35792751T>G - - NPR2_000018 - PubMed: Bartels 2004, OMIM:var0002 - rs28931582 Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat2 PubMed: Bartels 2004 - - yes Turks and Caicos Islands Turkish - - - - 1 Irfan Ullah
-?/. - c.349C>T r.(?) p.(Leu117Phe) Unknown - likely benign g.35792754C>T - - - NPR2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.368G>A r.(?) p.(Gly123Asp) Unknown - likely pathogenic g.35792773G>A - NPR2(NM_003995.4):c.368G>A (p.G123D) - NPR2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368G>T r.(?) p.(Gly123Val) Both (homozygous) - pathogenic (dominant) g.35792773G>T g.35792776G>T - - NPR2_000059 - PubMed: Ain 2019 - - Germline yes - - - - DNA SEQ - - AMD1 FamNAD-08 PubMed: Ain 2019 5-genration family, 6 affected (F, 5M), heterozygous carriers with slightly short hands and feet F;M yes Pakistan - - - - - 5 Noor-ul-ain Ain
?/. - c.410G>A r.(?) p.(Arg137His) Unknown - VUS g.35792815G>A - NPR2(NM_003995.3):c.410G>A (p.(Arg137His)) - NPR2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Gly143=) Unknown - likely benign g.35792834C>T - NPR2(NM_003995.3):c.429C>T (p.(=)) - NPR2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.491C>G r.(?) p.(Ala164Gly) Unknown - VUS g.35792896C>G g.35792899C>G - - NPR2_000009 - - - - Unknown - 1/1872 cases - - - DNA SEQ, SEQ-NG-I - - stature, short - - - - - - - - - - - 1 Sophie Ran Wang
?/. - c.491C>G r.(?) p.(Ala164Gly) Unknown - VUS g.35792896C>G - NPR2(NM_003995.3):c.491C>G (p.(Ala164Gly)) - NPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502T>G r.(?) p.(Leu168Val) Unknown - VUS g.35792907T>G - NPR2(NM_003995.3):c.502T>G (p.(Leu168Val)) - NPR2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.528T>A r.(?) p.(Asp176Glu) Maternal (confirmed) - likely pathogenic g.35792933T>A g.35792936T>A - - NPR2_000019 - PubMed: Bartels 2004, OMIM:var0003 - rs28929479 Germline - - - - - DNA SEQ Blood - AMD1 15146390-Pat3 PubMed: Bartels 2004 - ? no United States United States - - - - 1 Irfan Ullah
?/. - c.533G>A r.(?) p.(Arg178Gln) Unknown - VUS g.35792938G>A - NPR2(NM_003995.3):c.533G>A (p.(Arg178Gln)) - NPR2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.559G>A r.(?) p.(Val187Ile) Unknown - likely benign g.35792964G>A g.35792967G>A - - NPR2_000054 - PubMed: Amano 2014 - - Germline - - - - - DNA SEQ - - stature, short 24471569-Pat3 PubMed: Amano 2014 - ? - Japan - - - - - 1 Johan den Dunnen
?/. - c.650T>C r.(?) p.(Ile217Thr) Unknown - VUS g.35793055T>C g.35793058T>C NPR2(NM_003995.3):c.650T>C (p.(Ile217Thr)) - NPR2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650T>C r.(?) p.(Ile217Thr) Unknown - VUS g.35793055T>C - NPR2(NM_003995.3):c.650T>C (p.(Ile217Thr)) - NPR2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.667+4A>G r.spl? p.? Unknown - VUS g.35793076A>G - NPR2(NM_003995.4):c.667+4A>G - NPR2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667+11C>T r.(=) p.(=) Unknown - likely benign g.35793083C>T - NPR2(NM_003995.3):c.667+11C>T (p.(=)) - NPR2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667+13T>C r.(=) p.(=) Unknown - likely benign g.35793085T>C - NPR2(NM_003995.3):c.667+13T>C (p.(=)) - NPR2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668-20T>C r.(=) p.(=) Unknown - likely benign g.35793875T>C - NPR2(NM_003995.3):c.668-20T>C (p.(=)) - NPR2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668-4C>A r.spl? p.? Unknown - likely benign g.35793891C>A - NPR2(NM_003995.3):c.668-4C>A (p.?) - NPR2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674A>G r.(?) p.(Tyr225Cys) Unknown - VUS g.35793901A>G - NPR2(NM_003995.3):c.674A>G (p.(Tyr225Cys)) - NPR2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697C>T r.(?) p.(Leu233=) Unknown - likely benign g.35793924C>T - NPR2(NM_003995.3):c.697C>T (p.(Leu233=)), NPR2(NM_003995.4):c.697C>T (p.L233=) - NPR2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697C>T r.(?) p.(Leu233=) Unknown - likely benign g.35793924C>T - NPR2(NM_003995.3):c.697C>T (p.(Leu233=)), NPR2(NM_003995.4):c.697C>T (p.L233=) - NPR2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725G>A r.(?) p.(Arg242Lys) Unknown - VUS g.35793952G>A - NPR2(NM_003995.3):c.725G>A (p.(Arg242Lys)) - NPR2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.731A>C r.(?) p.(Asn244Thr) Unknown - likely benign g.35793958A>C g.35793961A>C NPR2(NM_003995.3):c.731A>C (p.(Asn244Thr)), NPR2(NM_003995.4):c.731A>C (p.N244T) - NPR2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731A>C r.(?) p.(Asn244Thr) Unknown - VUS g.35793958A>C - NPR2(NM_003995.3):c.731A>C (p.(Asn244Thr)), NPR2(NM_003995.4):c.731A>C (p.N244T) - NPR2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.739A>G r.(?) p.(Asn247Asp) Unknown - likely benign g.35793966A>G g.35793969A>G - - NPR2_000013 - - - - Unknown - 1/1872 cases - - - DNA SEQ, SEQ-NG-I - - stature, tall - - - - - - - - - - - 1 Sophie Ran Wang
?/. - c.758T>G r.(?) p.(Phe253Cys) Unknown - VUS g.35793985T>G - NPR2(NM_003995.3):c.758T>G (p.(Phe253Cys)) - NPR2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.779dup r.(?) p.(Ser261Glufs*45) Unknown - likely pathogenic g.35794006dup - NPR2(NM_003995.3):c.779dup (p.(Ser261GlufsTer45)) - NPR2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.788G>C r.(?) p.(Arg263Pro) Paternal (confirmed) - pathogenic g.35794015G>C g.35794018G>C - - NPR2_000048 - PubMed: Vasques 2013 - - Germline yes - - - - DNA SEQ Blood - stature, short 24001744-FamBPatIII1 PubMed: Vasques 2013 3-generation family, 4 affecteds (F, 3M) M - - - - - - - 4 Irfan Ullah
?/. - c.828C>G r.(?) p.(Asp276Glu) Unknown - VUS g.35794055C>G - NPR2(NM_003995.3):c.828C>G (p.(Asp276Glu)) - NPR2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830A>G r.(?) p.(Asn277Ser) Unknown - VUS g.35794057A>G g.35794060A>G NPR2(NM_003995.3):c.830A>G (p.(Asn277Ser)), NPR2(NM_003995.4):c.830A>G (p.N277S) - NPR2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830A>G r.(?) p.(Asn277Ser) Unknown - VUS g.35794057A>G - NPR2(NM_003995.3):c.830A>G (p.(Asn277Ser)), NPR2(NM_003995.4):c.830A>G (p.N277S) - NPR2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833G>A r.(?) p.(Arg278His) Unknown - VUS g.35794060G>A g.35794063G>A NPR2(NM_003995.3):c.833G>A (p.R278H, p.(Arg278His)) - NPR2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833G>A r.(?) p.(Arg278His) Unknown - VUS g.35794060G>A - NPR2(NM_003995.3):c.833G>A (p.R278H, p.(Arg278His)) - NPR2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.838C>T r.(?) p.(Arg280Trp) Unknown - VUS g.35794065C>T - NPR2(NM_003995.3):c.838C>T (p.(Arg280Trp)) - NPR2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839G>A r.(?) p.(Arg280Gln) Unknown - likely benign g.35794066G>A - NPR2(NM_003995.3):c.839G>A (p.(Arg280Gln)) - NPR2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.844C>T r.(?) p.(Gln282*) Both (homozygous) - pathogenic g.35794071C>T g.35794074C>T - - NPR2_000021 - PubMed: Bartels 2004 - - Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat4 PubMed: Bartels 2004 - - yes India East Indian - - - - 1 Irfan Ullah
+/. - c.844C>T r.(?) p.(Gln282*) Both (homozygous) - pathogenic (recessive) g.35794071C>T g.35794074C>T NM_003995.3:c.844C>T:p.(Gln282*) - NPR2_000021 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG1164 PubMed: Maddirevula 2018 isolated case F yes - - - - - - 1 LOVD
-?/. - c.855C>G r.(?) p.(Ala285=) Unknown - likely benign g.35794082C>G - NPR2(NM_003995.3):c.855C>G (p.(=)) - NPR2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.863A>C r.(?) p.(Glu288Ala) Unknown - likely benign g.35794090A>C - NPR2(NM_003995.3):c.863A>C (p.(Glu288Ala)) - NPR2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.872A>G r.(?) p.(Gln291Arg) Both (homozygous) - pathogenic (recessive) g.35794099A>G g.35794102A>G - - NPR2_000060 - PubMed: Ain 2019 - - Germline yes - - - - DNA SEQ - - AMD1 FamMid-02 PubMed: Ain 2019 4-generation family, 4 affected sisters F yes Pakistan - - - - - 4 Noor-ul-ain Ain
?/. - c.873+1G>T r.spl? p.? Unknown - VUS g.35794101G>T - NPR2(NM_003995.3):c.873+1G>T (p.?) - NPR2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873+13C>A r.(=) p.(=) Unknown - likely benign g.35794113C>A g.35794116C>A NPR2(NM_003995.3):c.873+13C>A (p.(=)), NPR2(NM_003995.4):c.873+13C>A - NPR2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.873+13C>A r.(=) p.(=) Unknown - benign g.35794113C>A - NPR2(NM_003995.3):c.873+13C>A (p.(=)), NPR2(NM_003995.4):c.873+13C>A - NPR2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883G>A r.(?) p.(Val295Met) Unknown - VUS g.35799624G>A - NPR2(NM_003995.3):c.883G>A (p.(Val295Met)) - NPR2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.890C>T r.(?) p.(Thr297Met) Both (homozygous) - pathogenic g.35799631C>T g.35799634C>T - - NPR2_000022 - PubMed: Bartels 2004 - - Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat5 PubMed: Bartels 2004 - - - Pakistan - - - - - 1 Irfan Ullah
+?/. - c.895C>T r.(?) p.(Arg299*) Unknown - likely pathogenic g.35799636C>T - NPR2(NM_003995.3):c.895C>T (p.(Arg299Ter)) - NPR2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.917A>G r.(?) p.(Tyr306Cys) Unknown - likely pathogenic g.35799658A>G g.35799661A>G NPR2(NM_003995.3):c.917A>G (p.(Tyr306Cys)) - NPR2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.927C>T r.(?) p.(=) Unknown - VUS g.35799668C>T - NPR2(NM_003995.3):c.927C>T (p.(Phe309=)) - NPR2_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949G>T r.(?) p.(Ala317Ser) Unknown - VUS g.35799690G>T - NPR2(NM_003995.3):c.949G>T (p.(Ala317Ser)) - NPR2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.958G>C r.(?) p.(Asp320His) Unknown - VUS g.35799699G>C - NPR2(NM_003995.4):c.958G>C (p.(Asp320His)) - NPR2_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.987G>C r.(?) p.(Leu329=) Unknown - VUS g.35799728G>C - NPR2(NM_003995.3):c.987G>C (p.(=)) - NPR2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.988-1G>C r.spl? p.? Unknown - likely pathogenic g.35800018G>C - - - NPR2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993C>T r.(?) p.(=) Unknown - likely benign g.35800024C>T - NPR2(NM_003995.3):c.993C>T (p.(=)) - NPR2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999C>T r.(?) p.(Ile333=) Unknown - likely benign g.35800030C>T g.35800033C>T NPR2(NM_003995.3):c.999C>T (p.(Ile333=)) - NPR2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1000G>A r.(?) p.(Ala334Thr) Unknown - likely pathogenic g.35800031G>A g.35800034G>A - - NPR2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1013A>G r.(?) p.(Tyr338Cys) Both (homozygous) - pathogenic g.35800044A>G g.35800047A>G - - NPR2_000023 - PubMed: Bartels 2004 - - Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat9 PubMed: Bartels 2004 - - yes (Turkey) Turkish - - - - 1 Irfan Ullah
?/. - c.1039G>A r.(?) p.(Val347Ile) Unknown - VUS g.35800070G>A - - - NPR2_000192 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081G>A r.(?) p.(Gly361Arg) Unknown - VUS g.35800112G>A - NPR2(NM_003995.3):c.1081G>A (p.(Gly361Arg)) - NPR2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088G>A r.(?) p.(Arg363Gln) Unknown - VUS g.35800119G>A - NPR2(NM_003995.4):c.1088G>A (p.(Arg363Gln)) - NPR2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1092del r.(?) p.(Ile364Metfs*13) Both (homozygous) - pathogenic g.35800123del g.35800126del - - NPR2_000038 - - - - Germline - - - - - DNA PCRdig - - AMD1 16384845-proband PubMed: Olney 2006 - F - - - - - - - 1 Irfan Ullah
?/. - c.1109G>A r.(?) p.(Gly370Glu) Unknown - VUS g.35800140G>A - NPR2(NM_003995.3):c.1109G>A (p.(Gly370Glu)) - NPR2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1109G>A r.(?) p.(Gly370Glu) Unknown - VUS g.35800140G>A - NPR2(NM_003995.3):c.1109G>A (p.(Gly370Glu)) - NPR2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1111C>T r.(?) p.(Arg371*) Paternal (confirmed) - pathogenic g.35800142C>T g.35800145C>T - - NPR2_000025 - PubMed: Bartels 2004 - - Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat10 PubMed: Bartels 2004 - - no United States United States - - - - 1 Irfan Ullah
?/. - c.1112G>A r.(?) p.(Arg371Gln) Unknown - VUS g.35800143G>A - NPR2(NM_003995.3):c.1112G>A (p.(Arg371Gln)) - NPR2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1123+5T>A r.spl? p.? Unknown - likely benign g.35800159T>A - NPR2(NM_003995.3):c.1123+5T>A (p.?) - NPR2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1124-20G>A r.(=) p.(=) Unknown - likely benign g.35800366G>A - NPR2(NM_003995.3):c.1124-20G>A (p.(=)) - NPR2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1124-14C>T r.(=) p.(=) Unknown - likely benign g.35800372C>T - NPR2(NM_003995.3):c.1124-14C>T (p.(=)) - NPR2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1162C>T r.(?) p.(Arg388*) Paternal (confirmed) - pathogenic g.35800424C>T g.35800427C>T - - NPR2_000020 - PubMed: Bartels 2004, OMIM:var0004 - rs121912739 Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat3 PubMed: Bartels 2004 - ? no United States United States - - - - 1 Irfan Ullah
+/. - c.1162C>T r.(?) p.(Arg388*) Unknown - pathogenic g.35800424C>T - NPR2(NM_003995.3):c.1162C>T (p.(Arg388Ter)) - NPR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1167G>T r.(?) p.(Glu389Asp) Unknown - likely pathogenic g.35800429G>T g.35800432G>T - - NPR2_000006 - - - - Germline - 1/1872 cases - - - DNA SEQ, SEQ-NG-I - - stature, short - - - - - - - - - - - 1 Sophie Ran Wang
-?/. - c.1176T>C r.(?) p.(=) Unknown - likely benign g.35800438T>C - NPR2(NM_003995.3):c.1176T>C (p.(=)) - NPR2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1185G>A r.(?) p.(Trp395*) Both (homozygous) - pathogenic (dominant) g.35800447G>A g.35800450G>A - - NPR2_000061 - PubMed: Ain 2019 - - Germline yes - - - - DNA SEQ - - AMD1 FamNAD-09 PubMed: Ain 2019 4-generation family, 4 affected (F, 3M), heterozygous carriers have short hands and feet F;M yes Pakistan - - - - - 4 Noor-ul-ain Ain
?/. - c.1190T>G r.(?) p.(Met397Arg) Unknown - VUS g.35800452T>G - - - NPR2_000128 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1218+2T>A r.spl? p.? Unknown - likely pathogenic g.35800482T>A - NPR2(NM_003995.3):c.1218+2T>A - NPR2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1218+4A>G r.spl? p.? Unknown - VUS g.35800484A>G - NPR2(NM_003995.3):c.1218+4A>G (p.?) - NPR2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1225G>A r.(?) p.(Ala409Thr) Both (homozygous) - pathogenic g.35800712G>A g.35800715G>A - - NPR2_000024 - PubMed: Bartels 2004 - - Germline yes - - - - DNA SEQ Blood - AMD1 15146390-Pat11 PubMed: Bartels 2004 - - yes Netherlands Dutch - - - - 1 Irfan Ullah
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