Full data view for gene RPL36A-HNRNPH2

Information The variants shown are described using the NM_001199973.1 transcript reference sequence.

241 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.-395dup r.(?) p.(=) Unknown - VUS g.100645529dup - BTK(NM_001287344.1):c.10dupT (p.W4Lfs*25) - BTK_000974 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47C>T r.(?) p.(Ser16Phe) Unknown - likely benign g.100645970C>T - RPL36A(NM_001199972.1):c.47C>T (p.(Ser16Phe)) - BTK_000975 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.87C>T r.(?) p.(Arg29=) Unknown - likely benign g.100646010C>T - RPL36A(NM_021029.5):c.87C>T (p.R29=) - BTK_000979 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+282C>A r.(=) p.(=) Unknown - likely benign g.100650727C>A g.101395739C>A RPL36A(NM_021029.5):c.420C>A (p.I140=) - BTK_000969 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2359_408+2362del r.(=) p.(=) Unknown - pathogenic g.100652804_100652807del g.101397816_101397819del GLA(NM_000169.2):c.1284_1287delACTT (p.L428Ffs*?) - GLA_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2372A>C r.(=) p.(=) Unknown - likely benign g.100652817A>C - GLA(NM_000169.2):c.1270T>G (p.S424A) - HNRNPH2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2380A>G r.(=) p.(=) Unknown - VUS g.100652825A>G - GLA(NM_000169.2):c.1262T>C (p.M421T) - HNRNPH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2396G>A r.(=) p.(=) Unknown - VUS g.100652841G>A g.101397853G>A GLA(NM_000169.2):c.1246C>T (p.Q416*) - GLA_000673 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+2398A>G r.(=) p.(=) Parent #1 - pathogenic g.100652843A>G g.101397855A>G - - GLA_000178 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam4 - - M - Argentina - - - - - 1 Paula Rozenfeld
?/. - c.408+2431_408+2433del r.(=) p.(=) Unknown - VUS g.100652876_100652878del - GLA(NM_000169.3):c.1212_1214delAAG (p.R404del) - GLA_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2446C>G r.(=) p.(=) Unknown - VUS g.100652891C>G g.101397903C>G GLA(NM_000169.2):c.1196G>C (p.(Trp399Ser), p.W399S) - GLA_000674 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2446C>G r.(=) p.(=) Unknown - VUS g.100652891C>G - GLA(NM_000169.2):c.1196G>C (p.(Trp399Ser), p.W399S) - GLA_000674 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2477G>C r.(=) p.(=) Unknown - pathogenic g.100652922G>C g.101397934G>C GLA(NM_000169.2):c.1165C>G (p.P389A), GLA(NM_000169.3):c.1165C>G (p.(Pro389Ala)) - HNRNPH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2477G>C r.(=) p.(=) Unknown - VUS g.100652922G>C g.101397934G>C GLA(NM_000169.2):c.1165C>G (p.P389A), GLA(NM_000169.3):c.1165C>G (p.(Pro389Ala)) - HNRNPH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2477G>C r.(=) p.(=) Unknown - VUS g.100652922G>C g.101397934G>C GLA(NM_000169.2):c.1165C>G (p.P389A), GLA(NM_000169.3):c.1165C>G (p.(Pro389Ala)) - HNRNPH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2477G>C r.(=) p.(=) Unknown - pathogenic g.100652922G>C - GLA(NM_000169.2):c.1165C>G (p.P389A), GLA(NM_000169.3):c.1165C>G (p.(Pro389Ala)) - HNRNPH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2489T>C r.(=) p.(=) Unknown - likely benign g.100652934T>C g.101397946T>C GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C - GLA_000675 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2489T>C r.(=) p.(=) Unknown - likely benign g.100652934T>C g.101397946T>C GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C - GLA_000675 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2489T>C r.(=) p.(=) Unknown - likely benign g.100652934T>C g.101397946T>C GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C - GLA_000675 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2489T>C r.(=) p.(=) Unknown - likely benign g.100652934T>C g.101397946T>C GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C - GLA_000675 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2489T>C r.(=) p.(=) Unknown - likely benign g.100652934T>C - GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C - GLA_000675 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+2497C>T r.(=) p.(=) Parent #1 - pathogenic g.100652942C>T g.101397954C>T - - GLA_000405 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam11 - - M - Argentina - - - - - 1 Paula Rozenfeld
./. - c.408+2517_408+2520del r.(=) p.(=) Parent #1 - pathogenic g.100652963_100652966del g.101397975_101397978del 1122_1125delAGGA - GLA_000399 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam15 - - M - Argentina - - - - - 1 Paula Rozenfeld
+?/. - c.408+2524C>T r.(=) p.(=) Unknown - likely pathogenic g.100652969C>T g.101397981C>T GLA(NM_000169.3):c.1118G>A (p.G373D) - GLA_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2540C>G r.(=) p.(=) Unknown - VUS g.100652985C>G g.101397997C>G GLA(NM_000169.3):c.1102G>C (p.A368P) - HNRNPH2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2540C>T r.(=) p.(=) Unknown - likely benign g.100652985C>T - GLA(NM_000169.3):c.1102G>A (p.A368T) - HNRNPH2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2548dup r.(=) p.(=) Unknown - pathogenic g.100652993dup - - - HNRNPH2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+2554C>T r.(=) p.(=) Parent #1 - pathogenic g.100652999C>T g.101398011C>T - - GLA_000383 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam7 - - M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.408+2554C>T r.(=) p.(=) Unknown - pathogenic g.100652999C>T - - - GLA_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.408+2555G>A r.(=) p.(=) Unknown - likely pathogenic g.100653000G>A g.101398012G>A - - GLA_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2555G>A r.(=) p.(=) Unknown - pathogenic g.100653000G>A - - - GLA_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2566A>G r.(=) p.(=) Unknown - VUS g.100653011A>G g.101398023A>G GLA(NM_000169.3):c.1076T>C (p.I359T) - GLA_000676 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2569T>C r.(=) p.(=) Unknown - pathogenic g.100653014T>C - GLA(NM_000169.3):c.1073A>G (p.E358G) - GLA_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.408+2570C>G r.(=) p.(=) Unknown - likely pathogenic g.100653015C>G g.101398027C>G GLA(NM_000169.2):c.1072G>C (p.E358Q) - GLA_000677 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2575C>T r.(=) p.(=) Unknown - VUS g.100653020C>T g.101398032C>T GLA(NM_000169.2):c.1067G>A (p.R356Q) - GLA_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.408+2582_408+2590del r.(=) p.(=) Unknown - likely pathogenic g.100653027_100653035del g.101398039_101398047del - - HNRNPH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2609A>C r.(=) p.(=) Unknown - VUS g.100653054A>C - GLA(NM_000169.3):c.1033T>G (p.S345A) - HNRNPH2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2617C>T r.(=) p.(=) Unknown - pathogenic g.100653062C>T g.101398074C>T GLA(NM_000169.2):c.1025G>A (p.R342Q) - GLA_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+2618G>A r.(=) p.(=) Parent #1 - pathogenic g.100653063G>A g.101398075G>A - - GLA_000343 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam35 - - M - Argentina - - - - - 1 Paula Rozenfeld
-?/. - c.408+2634G>A r.(=) p.(=) Unknown - likely benign g.100653079G>A g.101398091G>A GLA(NM_000169.3):c.1008C>T (p.N336=) - GLA_000678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2634G>A r.(=) p.(=) Unknown - likely benign g.100653079G>A g.101398091G>A GLA(NM_000169.3):c.1008C>T (p.N336=) - GLA_000678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2636T>C r.(=) p.(=) Unknown - likely benign g.100653081T>C g.101398093T>C - - HNRNPH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.408+2643_408+2644insA r.(=) p.(=) Unknown - likely pathogenic g.100653088_100653089insA g.101398100_101398101insA - - HNRNPH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2656A>G r.(=) p.(=) Unknown - benign g.100653101A>G - GLA(NM_000169.3):c.1000-14T>C - HNRNPH2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2664G>A r.(=) p.(=) Unknown - benign g.100653109G>A g.101398121G>A GLA(NM_000169.2):c.1000-22C>T - GLA_000679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2664G>A r.(=) p.(=) Unknown - benign g.100653109G>A g.101398121G>A GLA(NM_000169.2):c.1000-22C>T - GLA_000679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+2712_408+2714del r.(=) p.(=) Unknown - VUS g.100653157_100653159del g.101398169_101398171del - - HNRNPH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2901_408+2902insTTTTAAGATGG r.(=) p.(=) Unknown - likely benign g.100653346_100653347insTTTTAAGATGG g.101398358_101398359insTTTTAAGATGG - - HNRNPH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2934C>T r.(=) p.(=) Unknown - likely benign g.100653379C>T g.101398391C>T GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=) - GLA_000680 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2934C>T r.(=) p.(=) Unknown - benign g.100653379C>T g.101398391C>T GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=) - GLA_000680 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2934C>T r.(=) p.(=) Unknown - likely benign g.100653379C>T - GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=) - GLA_000680 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2934C>T r.(=) p.(=) Unknown - likely benign g.100653379C>T - GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=) - GLA_000680 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2938C>T r.(=) p.(=) Parent #1 - pathogenic g.100653383C>T g.101398395C>T - - GLA_000125 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123228 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.408+2950_408+2951dup r.(=) p.(=) Unknown - pathogenic g.100653395_100653396dup g.101398407_101398408dup GLA(NM_000169.2):c.961_962dupCA (p.Q321Hfs*28) - HNRNPH2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2956A>G r.(=) p.(=) Unknown - pathogenic g.100653401A>G g.101398413A>G GLA(NM_000169.2):c.956T>C (p.I319T), GLA(NM_000169.3):c.956T>C (p.I319T) - GLA_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2956A>G r.(=) p.(=) Unknown - pathogenic g.100653401A>G g.101398413A>G GLA(NM_000169.2):c.956T>C (p.I319T), GLA(NM_000169.3):c.956T>C (p.I319T) - GLA_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+2956A>G r.(=) p.(=) Unknown - pathogenic g.100653401A>G g.101398413A>G GLA(NM_000169.2):c.956T>C (p.I319T), GLA(NM_000169.3):c.956T>C (p.I319T) - GLA_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2967G>A r.(=) p.(=) Unknown - likely benign g.100653412G>A g.101398424G>A GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2967G>A r.(=) p.(=) Unknown - likely benign g.100653412G>A g.101398424G>A GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2967G>A r.(=) p.(=) Unknown - likely benign g.100653412G>A g.101398424G>A GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2967G>A r.(=) p.(=) Unknown - likely benign g.100653412G>A g.101398424G>A GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2967G>A r.(=) p.(=) Unknown - benign g.100653412G>A - GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2967G>A r.(=) p.(=) Unknown - likely benign g.100653412G>A - GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2975C>A r.(=) p.(=) Unknown - benign g.100653420C>A g.101398432C>A GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2975C>A r.(=) p.(=) Unknown - likely benign g.100653420C>A g.101398432C>A GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2975C>A r.(=) p.(=) Unknown - likely benign g.100653420C>A g.101398432C>A GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408+2975C>A r.(=) p.(=) Unknown - benign g.100653420C>A g.101398432C>A GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2975C>A r.(=) p.(=) Unknown - likely benign g.100653420C>A g.101398432C>A GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2975C>A r.(=) p.(=) Unknown - likely benign g.100653420C>A g.101398432C>A GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2986G>C r.(=) p.(=) Unknown - likely benign g.100653431G>C - - - HNRNPH2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2991G>C r.(=) p.(=) Unknown - likely benign g.100653436G>C g.101398448G>C GLA(NM_000169.2):c.921C>G (p.A307=), GLA(NM_000169.3):c.921C>G (p.A307=) - GLA_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2991G>C r.(=) p.(=) Unknown - likely benign g.100653436G>C g.101398448G>C GLA(NM_000169.2):c.921C>G (p.A307=), GLA(NM_000169.3):c.921C>G (p.A307=) - GLA_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+2991G>C r.(=) p.(=) Unknown - likely benign g.100653436G>C g.101398448G>C GLA(NM_000169.2):c.921C>G (p.A307=), GLA(NM_000169.3):c.921C>G (p.A307=) - GLA_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3010C>T r.(=) p.(=) Parent #1 - pathogenic g.100653455C>T g.101398467C>T - - GLA_000268 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam24 - - M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.408+3010C>T r.(=) p.(=) Unknown - pathogenic g.100653455C>T - - - GLA_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+3011G>A r.(=) p.(=) Unknown - pathogenic g.100653456G>A g.101398468G>A GLA(NM_000169.2):c.901C>T (p.R301*), GLA(NM_000169.3):c.901C>T (p.R301*) - GLA_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+3011G>A r.(=) p.(=) Unknown - pathogenic g.100653456G>A - GLA(NM_000169.2):c.901C>T (p.R301*), GLA(NM_000169.3):c.901C>T (p.R301*) - GLA_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3011_408+3012insACAG r.(=) p.(=) Parent #1 - pathogenic g.100653456_100653457insACAG g.101398468_101398469insACAG ins902_905TGTC - GLA_000659 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam30 - - M - Argentina - - - - - 1 Paula Rozenfeld
+?/. - c.408+3014G>A r.(=) p.(=) Unknown - likely pathogenic g.100653459G>A g.101398471G>A GLA(NM_000169.2):c.898C>T (p.L300F) - GLA_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+3018A>G r.(=) p.(=) Unknown - likely benign g.100653463A>G - GLA(NM_000169.2):c.894T>C (p.N298=) - HNRNPH2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3024C>T r.(=) p.(=) Parent #1 - pathogenic g.100653469C>T g.101398481C>T - - GLA_000195 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam29 - - M - Argentina - - - - - 1 Paula Rozenfeld
./. - c.408+3038C>T r.(=) p.(=) Parent #1 - pathogenic g.100653483C>T g.101398495C>T - - GLA_000621 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam10 - - M - Argentina - - - - - 1 Paula Rozenfeld
-?/. - c.408+3072T>C r.(=) p.(=) Unknown - likely benign g.100653517T>C g.101398529T>C GLA(NM_000169.3):c.840A>G (p.Q280=) - GLA_000684 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+3081C>G r.(=) p.(=) Unknown - VUS g.100653526C>G - - - HNRNPH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3093A>T r.(=) p.(=) Parent #1 - pathogenic g.100653538A>T g.101398550A>T - - GLA_000660 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam32 - - M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.408+3280A>C r.(=) p.(=) Unknown - pathogenic g.100653725A>C g.101398737A>C GLA(NM_000169.3):c.801+48T>G - HNRNPH2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+3292C>T r.(=) p.(=) Unknown - likely benign g.100653737C>T g.101398749C>T - - HNRNPH2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+3307A>G r.(=) p.(=) Unknown - likely benign g.100653752A>G g.101398764A>G - - HNRNPH2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3324T>C r.(=) p.(=) Parent #1 - pathogenic g.100653769T>C g.101398781T>C - - GLA_000605 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam31 - - M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.408+3328C>T r.(=) p.(=) Unknown - pathogenic g.100653773C>T g.101398785C>T GLA(NM_000169.2):c.801G>A (p.M267I) - GLA_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408+3336G>A r.(=) p.(=) Unknown - VUS g.100653781G>A - GLA(NM_000169.3):c.793C>T (p.P265S) - HNRNPH2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3339C>A r.(=) p.(=) Parent #1 - pathogenic g.100653784C>A g.101398796C>A - - GLA_000068 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam14 - - M - Argentina - - - - - 1 Paula Rozenfeld
./. - c.408+3351dup r.(=) p.(=) Parent #1 - pathogenic g.100653796dup g.101398808dup 782-783dupG - GLA_000661 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam21 - - M - Argentina - - - - - 1 Paula Rozenfeld
./. - c.408+3357C>A r.(=) p.(=) Parent #1 - pathogenic g.100653802C>A g.101398814C>A - - GLA_000662 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam20 - - M - Argentina - - - - - 1 Paula Rozenfeld
-?/. - c.408+3374C>G r.(=) p.(=) Unknown - likely benign g.100653819C>G g.101398831C>G - - GLA_000704 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.408+3401A>C r.(=) p.(=) Parent #1 - pathogenic g.100653846A>C g.101398858A>C - - GLA_000166 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam2 - - M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.408+3411_408+3412del r.(=) p.(=) Parent #1 - pathogenic g.100653856_100653857del g.101398868_101398869del 718_719delAA - GLA_000581 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - - - - - DNA SEQ-NG-I - - CMH Pat913 PubMed: Cecconi 2016, Journal: Cecconi 2016 - M - Italy - - - - - 1 Domenico Coviello
./. - c.408+3411_408+3412del r.(=) p.(=) Parent #1 - pathogenic g.100653856_100653857del g.101398868_101398869del 718_719delAA - GLA_000663 - - - - Germline - - - - - DNA SEQ - - Fabry disease GLA-Fam22 - - M - Argentina - - - - - 1 Paula Rozenfeld
-?/. - c.408+3412T>C r.(=) p.(=) Unknown - likely benign g.100653857T>C g.101398869T>C GLA(NM_000169.2):c.717A>G (p.I239M) - GLA_000685 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408+3413_408+3420del r.(=) p.(=) Unknown - pathogenic g.100653858_100653865del g.101398870_101398877del - - HNRNPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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