Full data view for gene USP19

Information The variants shown are described using the NM_006677.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.-5157A>T r.(?) p.(=) Unknown - likely benign g.49163209T>A g.49125776T>A LAMB2(NM_002292.3):c.2459A>T (p.Y820F) - LAMB2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4681C>T r.(?) p.(=) Unknown - benign g.49162733G>A g.49125300G>A LAMB2(NM_002292.4):c.2673C>T (p.G891=) - LAMB2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4531G>A r.(?) p.(=) Unknown - benign g.49162583C>T g.49125150C>T LAMB2(NM_002292.4):c.2740G>A (p.(Gly914Arg), p.G914R) - LAMB2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4531G>A r.(?) p.(=) Unknown - likely benign g.49162583C>T - LAMB2(NM_002292.4):c.2740G>A (p.(Gly914Arg), p.G914R) - LAMB2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4452C>A r.(?) p.(=) Unknown - VUS g.49162504G>T - - - LAMB2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4269G>C r.(?) p.(=) Unknown - likely benign g.49162321C>G - LAMB2(NM_002292.3):c.2922G>C (p.G974=) - LAMB2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4246G>A r.(?) p.(=) Unknown - likely benign g.49162298C>T - LAMB2(NM_002292.3):c.2945G>A (p.R982Q) - LAMB2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4232G>A r.(?) p.(=) Unknown - benign g.49162284C>T g.49124851C>T - - LAMB2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4216T>C r.(?) p.(=) Unknown - likely benign g.49162268A>G - LAMB2(NM_002292.4):c.2975T>C (p.I992T) - LAMB2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4008T>C r.(?) p.(=) Unknown - likely benign g.49162060A>G - LAMB2(NM_002292.4):c.3110-15T>C - LAMB2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3894A>G r.(?) p.(=) Unknown - VUS g.49161946T>C g.49124513T>C - - LAMB2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3645G>A r.(?) p.(=) Unknown - likely benign g.49161697C>T - LAMB2(NM_002292.3):c.3350G>A (p.R1117H) - LAMB2_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3463G>A r.(?) p.(=) Unknown - benign g.49161515C>T g.49124082C>T LAMB2(NM_002292.4):c.3443G>A (p.R1148H) - LAMB2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3324C>T r.(?) p.(=) Unknown - likely benign g.49161376G>A - LAMB2(NM_002292.4):c.3582C>T (p.F1194=) - LAMB2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3311C>T r.(?) p.(=) Unknown - pathogenic g.49161363G>A g.49123930G>A - - LAMB2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3293G>A r.(?) p.(=) Unknown - VUS g.49161345C>T - LAMB2(NM_002292.3):c.3613G>A (p.A1205T) - LAMB2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3261G>A r.(?) p.(=) Unknown - likely benign g.49161313C>T g.49123880C>T LAMB2(NM_002292.3):c.3645G>A (p.A1215=), LAMB2(NM_002292.4):c.3645G>A (p.A1215=) - LAMB2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3261G>A r.(?) p.(=) Unknown - likely benign g.49161313C>T - LAMB2(NM_002292.3):c.3645G>A (p.A1215=), LAMB2(NM_002292.4):c.3645G>A (p.A1215=) - LAMB2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3200G>A r.(?) p.(=) Unknown - likely benign g.49161252C>T g.49123819C>T LAMB2(NM_002292.3):c.3706G>A (p.E1236K) - LAMB2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2952G>T r.(?) p.(=) Unknown - likely benign g.49161004C>A g.49123571C>A LAMB2(NM_002292.3):c.3858G>T (p.V1286=), LAMB2(NM_002292.4):c.3858G>T (p.V1286=) - LAMB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2952G>T r.(?) p.(=) Unknown - likely benign g.49161004C>A - LAMB2(NM_002292.3):c.3858G>T (p.V1286=), LAMB2(NM_002292.4):c.3858G>T (p.V1286=) - LAMB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2952G>T r.(?) p.(=) Unknown - likely benign g.49161004C>A - LAMB2(NM_002292.3):c.3858G>T (p.V1286=), LAMB2(NM_002292.4):c.3858G>T (p.V1286=) - LAMB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2823G>A r.(?) p.(=) Unknown - pathogenic g.49160875C>T g.49123442C>T - - LAMB2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2707G>A r.(?) p.(=) Unknown - VUS g.49160759C>T - LAMB2(NM_002292.4):c.4030G>A (p.E1344K) - LAMB2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2666T>C r.(?) p.(=) Unknown - likely benign g.49160718A>G - LAMB2(NM_002292.4):c.4071T>C (p.(Pro1357=)) - LAMB2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2640A>G r.(?) p.(=) Unknown - likely benign g.49160692T>C - LAMB2(NM_002292.4):c.4097A>G (p.H1366R) - LAMB2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2619A>G r.(?) p.(=) Unknown - likely benign g.49160671T>C - LAMB2(NM_002292.3):c.4118A>G (p.D1373G), LAMB2(NM_002292.4):c.4118A>G (p.(Asp1373Gly), p.D1373G) - LAMB2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2619A>G r.(?) p.(=) Unknown - likely benign g.49160671T>C - LAMB2(NM_002292.3):c.4118A>G (p.D1373G), LAMB2(NM_002292.4):c.4118A>G (p.(Asp1373Gly), p.D1373G) - LAMB2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2619A>G r.(?) p.(=) Unknown - likely benign g.49160671T>C - LAMB2(NM_002292.3):c.4118A>G (p.D1373G), LAMB2(NM_002292.4):c.4118A>G (p.(Asp1373Gly), p.D1373G) - LAMB2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2597C>A r.(?) p.(=) Unknown - VUS g.49160649G>T - - - LAMB2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2574G>A r.(?) p.(=) Unknown - benign g.49160626C>T - LAMB2(NM_002292.4):c.4163G>A (p.R1388Q) - LAMB2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2560C>T r.(?) p.(=) Unknown - VUS g.49160612G>A - - - LAMB2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2515C>T r.(?) p.(=) Unknown - VUS g.49160567G>A g.49123134G>A LAMB2(NM_002292.3):c.4222C>T (p.(=)), LAMB2(NM_002292.4):c.4222C>T (p.L1408=) - LAMB2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2515C>T r.(?) p.(=) Unknown - likely benign g.49160567G>A - LAMB2(NM_002292.3):c.4222C>T (p.(=)), LAMB2(NM_002292.4):c.4222C>T (p.L1408=) - LAMB2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2494G>A r.(?) p.(=) Unknown - benign g.49160546C>T g.49123113C>T - - LAMB2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2356G>A r.(?) p.(=) Unknown - likely benign g.49160408C>T - LAMB2(NM_002292.3):c.4302G>A (p.Q1434=) - LAMB2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2220A>G r.(?) p.(=) Unknown - likely benign g.49160272T>C - LAMB2(NM_002292.4):c.4438A>G (p.T1480A) - LAMB2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2205A>G r.(?) p.(=) Unknown - VUS g.49160257T>C - LAMB2(NM_002292.3):c.4453A>G (p.S1485G) - LAMB2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2099A>G r.(?) p.(=) Unknown - VUS g.49160151T>C - LAMB2(NM_002292.4):c.4559A>G (p.K1520R) - LAMB2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2085C>T r.(?) p.(=) Unknown - VUS g.49160137G>A g.49122704G>A LAMB2(NM_002292.3):c.4573C>T (p.Q1525*) - LAMB2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1709G>A r.(?) p.(=) Unknown - pathogenic g.49159761C>T - LAMB2(NM_002292.4):c.4616G>A (p.R1539Q) - LAMB2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1635C>T r.(?) p.(=) Unknown - VUS g.49159687G>A - LAMB2(NM_002292.4):c.4690C>T (p.R1564W) - LAMB2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1551C>T r.(?) p.(=) Unknown - benign g.49159603G>A g.49122170G>A LAMB2(NM_002292.4):c.4774C>T (p.R1592W) - LAMB2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1551C>T r.(?) p.(=) Unknown - benign g.49159603G>A - LAMB2(NM_002292.4):c.4774C>T (p.R1592W) - LAMB2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1401G>A r.(?) p.(=) Unknown - VUS g.49159453C>T g.49122020C>T LAMB2(NM_002292.3):c.4847G>A (p.R1616Q) - LAMB2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1308A>G r.(?) p.(=) Unknown - benign g.49159360T>C g.49121927T>C LAMB2(NM_002292.4):c.4923+17A>G - LAMB2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1139G>A r.(?) p.(=) Unknown - likely benign g.49159191C>T - LAMB2(NM_002292.4):c.5026G>A (p.G1676R) - LAMB2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1138G>T r.(?) p.(=) Unknown - likely benign g.49159190C>A - LAMB2(NM_002292.4):c.5027G>T (p.G1676V) - LAMB2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1126C>T r.(?) p.(=) Unknown - VUS g.49159178G>A g.49121745G>A LAMB2(NM_002292.3):c.5039C>T (p.A1680V), LAMB2(NM_002292.4):c.5039C>T (p.A1680V) - LAMB2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1126C>T r.(?) p.(=) Unknown - VUS g.49159178G>A - LAMB2(NM_002292.3):c.5039C>T (p.A1680V), LAMB2(NM_002292.4):c.5039C>T (p.A1680V) - LAMB2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-932G>A r.(?) p.(=) Unknown - likely benign g.49158984C>T - LAMB2(NM_002292.3):c.5142G>A (p.K1714=) - LAMB2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-908A>G r.(?) p.(=) Unknown - likely benign g.49158960T>C - LAMB2(NM_002292.3):c.5166A>G (p.Q1722=), LAMB2(NM_002292.4):c.5166A>G (p.Q1722=) - LAMB2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-908A>G r.(?) p.(=) Unknown - likely benign g.49158960T>C - LAMB2(NM_002292.3):c.5166A>G (p.Q1722=), LAMB2(NM_002292.4):c.5166A>G (p.Q1722=) - LAMB2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-718T>C r.(?) p.(=) Unknown - likely benign g.49158770A>G - LAMB2(NM_002292.3):c.5286T>C (p.N1762=), LAMB2(NM_002292.4):c.5286T>C (p.N1762=) - LAMB2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-718T>C r.(?) p.(=) Unknown - likely benign g.49158770A>G - LAMB2(NM_002292.3):c.5286T>C (p.N1762=), LAMB2(NM_002292.4):c.5286T>C (p.N1762=) - LAMB2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-711G>A r.(?) p.(=) Unknown - likely benign g.49158763C>T g.49121330C>T LAMB2(NM_002292.4):c.5293G>A (p.A1765T) - LAMB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-625C>G r.(?) p.(=) Unknown - VUS g.49158677G>C g.49121244G>C - - LAMB2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-625C>T r.(?) p.(=) Unknown - benign g.49158677G>A g.49121244G>A - - LAMB2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1263G>T r.(?) p.(Glu421Asp) Parent #2 - likely pathogenic g.49153277C>A g.49115844C>A NM_001199162:c.1536G>T (E512D) - USP19_000002 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4372_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1307A>G r.(?) p.(Asp436Gly) Unknown - VUS g.49153233T>C g.49115800T>C USP19(NM_001199160.1):c.1610A>G (p.(Asp537Gly)) - USP19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1308C>G r.(?) p.(Asp436Glu) Unknown - VUS g.49153232G>C g.49115799G>C USP19(NM_001199160.1):c.1611C>G (p.(Asp537Glu)) - USP19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1351G>T r.(?) p.(Val451Leu) Parent #1 - likely pathogenic g.49153189C>A g.49115756C>A NM_001199162:c.1624G>T (V542L) - USP19_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4372_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1920_1923del r.(?) p.(Phe641Serfs*60) Unknown - VUS g.49152258_49152261del - USP19(NM_001199160.1):c.2223_2226delTTTC (p.(Phe742fs)) - USP19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1989C>T r.(?) p.(=) Unknown - VUS g.49151712G>A - USP19(NM_001199161.2):c.2298C>T (p.(Ser766=)) - USP19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3263G>A r.(?) p.(Arg1088His) Unknown - VUS g.49148270C>T - USP19(NM_001199161.2):c.3572G>A (p.(Arg1191His)) - USP19_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3538C>T r.(?) p.(Arg1180Cys) Unknown - VUS g.49147889G>A - USP19(NM_001199161.2):c.3847C>T (p.(Arg1283Cys)) - USP19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4249C>A r.(=) p.(=) Unknown - VUS g.49142142G>T g.49104709G>T QARS(NM_005051.2):c.25C>A (p.L9I), QARS1(NM_005051.3):c.25C>A (p.L9I) - USP19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4249C>A r.(=) p.(=) Unknown - benign g.49142142G>T g.49104709G>T QARS(NM_005051.2):c.25C>A (p.L9I), QARS1(NM_005051.3):c.25C>A (p.L9I) - USP19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4358C>T r.(=) p.(=) Unknown - likely benign g.49142033G>A - QARS1(NM_005051.3):c.117+17C>T - QARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4532C>T r.(=) p.(=) Unknown - likely benign g.49141859G>A - QARS1(NM_005051.3):c.163C>T (p.L55=) - QARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4598G>A r.(=) p.(=) Unknown - likely benign g.49141793C>T g.49104360C>T QARS1(NM_005051.3):c.229G>A (p.A77T) - QARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5036G>A r.(=) p.(=) Unknown - VUS g.49141355C>T g.49103922C>T QARS(NM_005051.2):c.316G>A (p.D106N, p.(Asp106Asn)) - QARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5036G>A r.(=) p.(=) Unknown - VUS g.49141355C>T g.49103922C>T QARS(NM_005051.2):c.316G>A (p.D106N, p.(Asp106Asn)) - QARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5041C>T r.(=) p.(=) Unknown - likely benign g.49141350G>A - QARS(NM_005051.2):c.321C>T (p.F107=) - QARS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5298G>A r.(=) p.(=) Unknown - VUS g.49141093C>T g.49103660C>T QARS(NM_005051.2):c.422G>A (p.R141H) - USP19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5345C>T r.(=) p.(=) Unknown - likely benign g.49141046G>A g.49103613G>A QARS1(NM_005051.3):c.451+18C>T - USP19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5582G>A r.(=) p.(=) Unknown - VUS g.49140809C>T - QARS(NM_005051.3):c.485G>A (p.(Gly162Asp)) - USP19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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