Full data view for gene RSPRY1

Information The variants shown are described using the NM_133368.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.-155-7560_901+1665del r.(-155_901del) p.0? Both (homozygous) ACMG pathogenic g.57230856_57252612del g.57196944_57218700del - - RSPRY1_000006 ACMG PVS1, PM2, PM3; not detected by WES PubMed: Riquin 2023 - - Germline - - - - - DNA SEQ-NG - WES, WGS trio NDD Pat10 PubMed: Riquin 2023 patient F - France - - - - - 1 Johan den Dunnen
?/. - c.99_107dup r.(?) p.(Gly34_Ala36dup) Unknown - VUS g.57238669_57238677dup - RSPRY1(NM_133368.3):c.99_107dup (p.(Gly34_Ala36dup)) - RSPRY1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.121G>T r.(?) p.(Gly41Cys) Both (homozygous) - pathogenic g.57238691G>T g.57204779G>T - - RSPRY1_000002 - PubMed: Faden 2015, Journal: Faden 2015, OMIM:var0002 - rs864309652 Germline yes - - - - DNA SEQ - - SEMDFA Fam2PatII1 PubMed: Faden 2015, Journal: Faden 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada Peruvian >07y06m - - - 1 Pieter Klap
?/. - c.140G>A r.(?) p.(Arg47Gln) Unknown - VUS g.57238710G>A - RSPRY1(NM_133368.3):c.140G>A (p.(Arg47Gln)) - RSPRY1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149G>A r.(?) p.(Ser50Asn) Unknown - VUS g.57238719G>A - RSPRY1(NM_133368.3):c.149G>A (p.(Ser50Asn)) - RSPRY1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244C>T r.(?) p.(Arg82Trp) Unknown - VUS g.57238814C>T - RSPRY1(NM_133368.3):c.244C>T (p.(Arg82Trp)) - RSPRY1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703-3C>T r.spl? p.? Unknown - likely benign g.57250016C>T g.57216104C>T RSPRY1(NM_133368.1):c.703-3C>T (p.?) - RSPRY1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703-3_705del r.spl? p.? Unknown - likely benign g.57250016_57250021del g.57216104_57216109del RSPRY1(NM_133368.1):c.703-3_705del (p.?) - RSPRY1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1279dup r.(?) p.(Thr427Asnfs*10) Both (homozygous) - pathogenic g.57264628dup g.57230716dup - - RSPRY1_000001 - PubMed: Faden 2015, Journal: Faden 2015, OMIM:var0001 - rs864309651 Germline yes - - - - DNA arraySNP, SEQ - - ? Fam1PatIV1 PubMed: Faden 2015, Journal: Faden 2015 2-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents, patientIV1 F yes Saudi Arabia - >18y - - - 4 Pieter Klap
+/. 12 c.1279dup r.(?) p.(Thr427Asnfs*10) Both (homozygous) - pathogenic g.57264628dup g.57230716dup - - RSPRY1_000001 - PubMed: Faden 2015, Journal: Faden 2015 - - Germline yes - - - - DNA SEQ - - ? Fam1PatIV2 PubMed: Faden 2015, Journal: Faden 2015 patient IV2 F yes Saudi Arabia - >16y - - - 1 Pieter Klap
+/. 12 c.1279dup r.(?) p.(Thr427Asnfs*10) Both (homozygous) - pathogenic g.57264628dup g.57230716dup - - RSPRY1_000001 - PubMed: Faden 2015, Journal: Faden 2015 - - Germline yes - - - - DNA SEQ - - ? Fam1PatIV3 PubMed: Faden 2015, Journal: Faden 2015 patient IV3 F yes Saudi Arabia - >13y - - - 1 Pieter Klap
+/. 12 c.1279dup r.(?) p.(Thr427Asnfs*10) Both (homozygous) - pathogenic g.57264628dup g.57230716dup - - RSPRY1_000001 - PubMed: Faden 2015, Journal: Faden 2015 - - Germline yes - - - - DNA SEQ - - ? Fam1PatIV6 PubMed: Faden 2015, Journal: Faden 2015 patient IV6 M yes Saudi Arabia - >09y06m - - - 1 Pieter Klap
+/. - c.1279dup r.(?) p.(Thr427Asnfs*10) Both (homozygous) - pathogenic (recessive) g.57264628dup g.57230716dup NM_133368.1:c.1279dupA:p.(Thr427Asnfs*10) - RSPRY1_000001 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1385 ,12DG1386, 12DG1387,12DG1400 PubMed: Maddirevula 2018 family, 4 affected (4F) F yes - Arab - - - - 4 LOVD
-?/. - c.1634+8G>T r.(=) p.(=) Unknown - likely benign g.57269148G>T - RSPRY1(NM_133368.3):c.1634+8G>T - RSPRY1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1652G>A r.(?) p.(Cys551Tyr) Both (homozygous) - likely pathogenic (recessive) g.57272808G>A g.57238896G>A - - RSPRY1_000012 - PubMed: Singh 2024, PubMed: Jacob 2025 SCV002061883.1 - Germline yes - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia family;? PubMed: Jacob 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - 2 Johan den Dunnen
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