Full data view for gene TRPS1

Information The variants shown are described using the NM_014112.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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     

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Age at death     

VIP     

Data_av     

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Owner     
+?/. 1i_4i c.-121-4973_2097-4165dup r.? p.? Unknown - likely pathogenic (dominant) g.116603996_116640958dup g.115591769_115628731dup - - TRPS1_000034 tandem duplication, break point sequenced Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. - - - De novo - - - - - DNA arrayCNV, PCR, SEQ - - TRPS1 - - - - - - - - - - - 1 Margot Cousin
-/. - c.-78G>A r.(?) p.(=) Unknown - benign g.116635942C>T g.115623715C>T TRPS1(NM_014112.5):c.-78G>A - TRPS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9dup r.(?) p.(=) Unknown - benign g.116635873dup g.115623646dup TRPS1(NM_014112.5):c.-9dupT - TRPS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9dup r.(?) p.(=) Unknown - benign g.116635873dup g.115623646dup TRPS1(NM_014112.5):c.-9dupT - TRPS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.37+140C>T r.(=) p.(=) Unknown - benign g.116635688G>A g.115623461G>A TRPS1(NM_014112.5):c.37+140C>T - TRPS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38-124_38-123del r.(=) p.(=) Unknown - likely benign g.116632421_116632422del g.115620194_115620195del TRPS1(NM_014112.5):c.38-124_38-123delTT - TRPS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38-10A>C r.(=) p.(=) Unknown - likely benign g.116632297T>G - TRPS1(NM_014112.5):c.38-10A>C - TRPS1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58C>G r.(?) p.(Pro20Ala) Unknown - VUS g.116632267G>C - TRPS1(NM_014112.5):c.58C>G (p.(Pro20Ala)) - TRPS1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76G>T r.(?) p.(Ala26Ser) Unknown - VUS g.116632249C>A - TRPS1(NM_014112.5):c.76G>T (p.(Ala26Ser)) - TRPS1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>C r.(?) p.(Glu30Ala) Unknown - likely benign g.116632236T>G - TRPS1(NM_014112.5):c.89A>C (p.(Glu30Ala)) - TRPS1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>A r.(?) p.(Glu71Lys) Unknown - VUS g.116632114C>T g.115619887C>T TRPS1(NM_014112.2):c.211G>A (p.(Glu71Lys)) - TRPS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.310C>T r.(?) p.(Pro104Ser) Unknown - likely benign g.116632015G>A - TRPS1(NM_014112.2):c.310C>T (p.(Pro104Ser)) - TRPS1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475G>C r.(?) p.(Asp159His) Unknown - VUS g.116631850C>G - TRPS1(NM_014112.5):c.475G>C (p.(Asp159His)) - TRPS1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545G>A r.(?) p.(Ser182Asn) Unknown - VUS g.116631780C>T - TRPS1(NM_014112.4):c.545G>A (p.S182N) - TRPS1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>T r.(?) p.(Gly183Val) Unknown - VUS g.116631777C>A g.115619550C>A TRPS1(NM_014112.2):c.548G>T (p.(Gly183Val)) - TRPS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548G>T r.(?) p.(Gly183Val) Unknown - likely benign g.116631777C>A - TRPS1(NM_014112.2):c.548G>T (p.(Gly183Val)) - TRPS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601C>G r.(?) p.(Gln201Glu) Unknown - likely benign g.116631724G>C - TRPS1(NM_014112.2):c.601C>G (p.(Gln201Glu)) - TRPS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613G>C r.(?) p.(Asp205His) Unknown - likely benign g.116631712C>G - TRPS1(NM_014112.2):c.613G>C (p.(Asp205His)) - TRPS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.697C>T r.(?) p.(Gln233Ter) Unknown - pathogenic g.116631628G>A g.115619401G>A TRPS1(NM_014112.5):c.697C>T (p.Q233*) - TRPS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770G>C r.(?) p.(Arg257Pro) Unknown - likely benign g.116631555C>G g.115619328C>G TRPS1(NM_014112.2):c.770G>C (p.(Arg257Pro)) - TRPS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.835G>T r.(?) p.(Ala279Ser) Unknown - VUS g.116631490C>A - TRPS1(NM_014112.5):c.835G>T (p.(Ala279Ser)) - TRPS1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.877_893del r.(?) p.(Gln293Cysfs*22) Unknown - pathogenic g.116631435_116631451del g.115619208_115619224del - - TRPS1_000011 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - TRPS1 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. 3 c.880_882del r.(?) p.(Lys294del) Paternal (confirmed) - likely benign g.116631445_116631447del g.115619218_115619220del 880-882delAAG (294delK) - TRPS1_000008 - PubMed: Sun et al. 2016 - - Germline ? - - - - DNA SEQ, SEQ-NG-R blood - BD - PubMed: Sun 2016 3-generation family, affected proband, father and uncle M - (China) - - - - - 3 Arrate Pereda
+/. - c.901dup r.(?) p.(Ser301PhefsTer20) Unknown - pathogenic g.116631427dup - - - TRPS1_000052 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933G>A r.(?) p.(Arg311=) Unknown - likely benign g.116631392C>T - TRPS1(NM_014112.4):c.933G>A (p.R311=) - TRPS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.933G>C r.(?) p.(Arg311Ser) Maternal (confirmed) - likely pathogenic g.116631392C>G g.115619165C>G - - TRPS1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - WES CHD - - - F yes Lebanon Lebanon - - - - 4 Georges Nemer
-/. - c.966+81A>G r.(=) p.(=) Unknown - benign g.116631278T>C g.115619051T>C TRPS1(NM_014112.5):c.966+81A>G - TRPS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.975del r.(?) p.(Gly326Valfs*38) Unknown - pathogenic g.116617221del g.115604994del 975delA - TRPS1_000033 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - TRPS1 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+?/. 4 c.1053C>A r.(?) p.(Cys351*) Parent #1 - likely pathogenic g.116617143G>T g.115604916G>T 1014C→A / C338X - TRPS1_000002 - PubMed: Momeni et al. 2000 - - Germline/De novo (untested) yes - - - - DNA SEQ Peripheral blood lymphocyte - TRPS1 No 1 PubMed: Momeni 2000 2 generation family, two affected (mother and son) M ? (Germany) - - - - - 2 Arrate Pereda
?/. - c.1055A>G r.(?) p.(Asn352Ser) Unknown - VUS g.116617141T>C - TRPS1(NM_014112.2):c.1055A>G (p.(Asn352Ser)) - TRPS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090G>A r.(?) p.(Glu364Lys) Unknown - VUS g.116617106C>T g.115604879C>T TRPS1(NM_014112.4):c.1090G>A (p.E364K) - TRPS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1236C>G r.(?) p.(Asp412Glu) Unknown - VUS g.116616960G>C - TRPS1(NM_014112.5):c.1236C>G (p.D412E) - TRPS1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1279T>G r.(?) p.(Ser427Ala) Unknown - likely benign g.116616917A>C - TRPS1(NM_014112.2):c.1279T>G (p.(Ser427Ala)) - TRPS1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1335T>G r.(?) p.(Ser445Arg) Unknown - likely benign g.116616861A>C - TRPS1(NM_014112.2):c.1335T>G (p.(Ser445Arg)) - TRPS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1541G>T r.(?) p.(Ser514Ile) Unknown - likely benign g.116616655C>A - TRPS1(NM_014112.2):c.1541G>T (p.(Ser514Ile)) - TRPS1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1587G>A r.(?) p.(Glu529=) Unknown - likely benign g.116616609C>T g.115604382C>T TRPS1(NM_014112.4):c.1587G>A (p.E529=) - TRPS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1630C>T r.(?) p.(Arg544Ter) Unknown - pathogenic g.116616566G>A g.115604339G>A - - TRPS1_000043 - PubMed: Zhang 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel dysplasia, bone Tab4-Pat12 PubMed: Zhang 2015 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.1631G>A r.(?) p.(Arg544Gln) Unknown - likely benign g.116616565C>T - TRPS1(NM_014112.5):c.1631G>A (p.(Arg544Gln)) - TRPS1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1669G>A r.(?) p.(Gly557Arg) Unknown - likely benign g.116616527C>T g.115604300C>T TRPS1(NM_014112.2):c.1669G>A (p.(Gly557Arg)) - TRPS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1690C>T r.(?) p.(Gln564*) Unknown - pathogenic g.116616506G>A g.115604279G>A - - TRPS1_000037 - - - - Germline - - - - - DNA SEQ - - TRPS1 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.1716T>A r.(?) p.(Cys572*) Unknown - pathogenic g.116616480A>T - TRPS1(NM_014112.5):c.1716T>A (p.C572*) - TRPS1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1870C>T r.(?) p.(Arg624*) Parent #1 - likely pathogenic g.116616326G>A g.115604099G>A 1831C→T / R611X - TRPS1_000003 - PubMed: Momeni et al. 2000 - - Germline/De novo (untested) yes - - - - DNA SEQ peripheral blood leukocytes - TRPS1 No 2 PubMed: Momeni 2000 - F - (Germany) - - - - - 4 Arrate Pereda
+/+ 4 c.1870C>T r.(?) p.(Arg624*) Parent #1 - pathogenic g.116616326G>A g.115604099G>A - - TRPS1_000003 - NOT PUBLISHED - - De novo - - - - - DNA SEQ peripheral blood - TRPS1 - NOT PUBLISHED - F no China - - - - - 1 Arrate Pereda
-?/. - c.1903A>G r.(?) p.(Thr635Ala) Unknown - likely benign g.116616293T>C - - - TRPS1_000057 - - - rs13249097 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2086C>T r.(?) p.(Arg696Ter) Unknown - pathogenic g.116616110G>A - - - TRPS1_000067 - - - rs368166434 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2097-7_2097-5del r.spl? p.? Unknown - VUS g.116599843_116599845del - TRPS1(NM_014112.5):c.2097-7_2097-5del - TRPS1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2137dup r.(?) p.(Thr713Asnfs*44) Unknown - pathogenic g.116599791dup g.115587564dup - - TRPS1_000009 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - TRPS1 - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.2282A>G r.(?) p.(Asn761Ser) Unknown - likely benign g.116599646T>C g.115587419T>C TRPS1(NM_014112.2):c.2282A>G (p.(Asn761Ser)) - TRPS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2325G>C r.(?) p.(Glu775Asp) Unknown - VUS g.116599603C>G - TRPS1(NM_014112.5):c.2325G>C (p.(Glu775Asp)) - TRPS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.2445dup r.(?) p.(Ser816Glufs*28) Maternal (confirmed) - likely pathogenic g.116599487dup g.115587260dup 2406–2407insG - TRPS1_000004 - PubMed: Momeni et al. 2000 - - Germline yes - - - - DNA SEQ Peripheral blood lymphocyte cultures - TRPS1 No 3 PubMed: Momeni 2000 - M - (Germany) - - - - - 4 Arrate Pereda
+?/. 5 c.2480dup r.(?) p.(Thr828Aspfs*16) Parent #1 - likely pathogenic g.116599448dup g.115587221dup 2441–2442insT - TRPS1_000005 - PubMed: Momeni et al. 2000 - - Germline/De novo (untested) - - - - - DNA SEQ peripheral blood leukocytes - TRPS1 No 4 PubMed: Momeni 2000 - ? - (Germany) - - - - - 1 Arrate Pereda
?/. - c.2522G>A r.(?) p.(Arg841Lys) Unknown - VUS g.116599406C>T - TRPS1(NM_014112.4):c.2522G>A (p.R841K), TRPS1(NM_014112.5):c.2522G>A (p.(Arg841Lys)) - TRPS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2522G>A r.(?) p.(Arg841Lys) Unknown - VUS g.116599406C>T - TRPS1(NM_014112.4):c.2522G>A (p.R841K), TRPS1(NM_014112.5):c.2522G>A (p.(Arg841Lys)) - TRPS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2548C>T r.(?) p.(His850Tyr) Unknown - VUS g.116599380G>A - TRPS1(NM_014112.5):c.2548C>T (p.(His850Tyr)) - TRPS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.2557C>T r.(?) p.(Arg853*) Parent #1 - likely pathogenic g.116599371G>A g.115587144G>A 2518C→T / R840X - TRPS1_000006 - PubMed: Momeni et al. 2000 - - De novo - - - - - DNA SEQ peripheral blood leukocytes - TRPS1 No 5 PubMed: Momeni 2000 - F - (Germany) - - - - - 1 Arrate Pereda
?/. - c.2684C>A r.(?) p.(Ser895Tyr) Unknown - VUS g.116599244G>T - TRPS1(NM_014112.5):c.2684C>A (p.(Ser895Tyr)) - TRPS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2700+29A>C r.(=) p.(=) Unknown - benign g.116599199T>G g.115586972T>G TRPS1(NM_014112.5):c.2700+29A>C - TRPS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2700+29A>C r.(=) p.(=) Unknown - benign g.116599199T>G g.115586972T>G TRPS1(NM_014112.5):c.2700+29A>C - TRPS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2701-79777A>G r.(=) p.(=) Unknown - likely benign g.116510457T>C - TRPS1(NM_014112.5):c.2701-79777A>G - TRPS1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2711G>T r.(?) p.(Gly904Val) Unknown - VUS g.116430670C>A - TRPS1(NM_014112.2):c.2711G>T (p.(Gly904Val)) - TRPS1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2762G>A r.(?) p.(Arg921Gln) Unknown - pathogenic g.116430619C>T - - - TRPS1_000045 - - - rs121908435 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2795C>T r.(?) p.(Ala932Val) Unknown - pathogenic g.116430586G>A - - - TRPS1_000048 - - - rs121908436 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2848A>G r.(?) p.(Lys950Glu) Unknown - VUS g.116427288T>C - TRPS1(NM_014112.5):c.2848A>G (p.K950E) - TRPS1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2894G>A r.(?) p.(Arg965His) Unknown - pathogenic g.116427242C>T - TRPS1(NM_014112.2):c.2894G>A (p.(Arg965His)) - TRPS1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2987G>T r.(?) p.(Arg996Met) Unknown - likely benign g.116427149C>A - TRPS1(NM_014112.2):c.2987G>T (p.(Arg996Met)) - TRPS1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3146A>G r.(?) p.(His1049Arg) Unknown - VUS g.116426990T>C - TRPS1(NM_014112.5):c.3146A>G (p.(His1049Arg)) - TRPS1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3184C>G r.(?) p.(Pro1062Ala) Unknown - likely benign g.116426952G>C - TRPS1(NM_014112.5):c.3184C>G (p.(Pro1062Ala)) - TRPS1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3278A>G r.(?) p.(Tyr1093Cys) Unknown - likely benign g.116426858T>C g.115414630T>C TRPS1(NM_014112.2):c.3278A>G (p.(Tyr1093Cys)) - TRPS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3343A>G r.(?) p.(Asn1115Asp) Unknown - VUS g.116426793T>C - TRPS1(NM_014112.5):c.3343A>G (p.(Asn1115Asp)) - TRPS1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.3367dupT r.(?) p.(Trp1123Leufs*7) Unknown - likely pathogenic g.116426769del - - - TRPS1_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ blood - TRPS1 - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.3374G>A r.(?) p.(Arg1125Gln) Unknown - VUS g.116426762C>T - TRPS1(NM_014112.5):c.3374G>A (p.(Arg1125Gln)) - TRPS1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3400_3401insGAGG r.(?) p.(Val1134Glyfs*42) Parent #1 - likely pathogenic g.116426736_116426737insCTCC g.115414508_115414509insCTCC 3360–3361insGGAG - TRPS1_000007 - PubMed: Momeni et al. 2000 - - De novo - - - - - DNA SEQ peripheral blood leukocytes - TRPS1 No 6 PubMed: Momeni 2000 - M - (Germany) - - - - - 1 Arrate Pereda
+/. 7 c.3430del r.(?) p.(Val1144Cysfs*34) Unknown ACMG pathogenic (dominant) g.116426706del g.115414478del - - TRPS1_000066 - - - - Germline yes - - - - DNA SEQ blood - TRPS1 - - - F - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.3461A>G r.(?) p.(Tyr1154Cys) Unknown - VUS g.116426675T>C - - - TRPS1_000044 - - - rs756910279 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3724A>C r.(?) p.(Met1242Leu) Unknown - likely benign g.116426412T>G - TRPS1(NM_014112.2):c.3724A>C (p.(Met1242Leu)) - TRPS1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3737A>T r.(?) p.(His1246Leu) Unknown - likely pathogenic (dominant) g.116426399T>A g.115414171T>A - - TRPS1_000080 - PubMed: Jacob 2025 SCV004218531.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
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