Full data view for gene FAM171A2

Information The variants shown are described using the NM_198475.2 transcript reference sequence.

126 entries on 2 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.*959del r.(?) p.(=) Unknown - VUS g.42430144del - GRN(NM_002087.4):c.1760del (p.(Pro587Glnfs*3)) - FAM171A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1069C>T r.(=) p.(=) Unknown - likely benign g.42430032G>A g.44352664G>A GRN(NM_002087.2):c.1648G>A (p.V550I) - GRN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1183C>G r.(=) p.(=) Unknown - VUS g.42429918G>C g.44352550G>C GRN(NM_002087.4):c.1623G>C (p.W541C) - GRN_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1244C>T r.(=) p.(=) Unknown - VUS g.42429857G>A g.44352489G>A GRN(NM_002087.2):c.1562G>A (p.C521Y) - GRN_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1262C>G r.(=) p.(=) Unknown - likely benign g.42429839G>C g.44352471G>C GRN(NM_002087.2):c.1544G>C (p.G515A), GRN(NM_002087.4):c.1544G>C (p.(Gly515Ala), p.G515A) - GRN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1262C>G r.(=) p.(=) Unknown - benign g.42429839G>C g.44352471G>C GRN(NM_002087.2):c.1544G>C (p.G515A), GRN(NM_002087.4):c.1544G>C (p.(Gly515Ala), p.G515A) - GRN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1262C>G r.(=) p.(=) Unknown - likely benign g.42429839G>C g.44352471G>C GRN(NM_002087.2):c.1544G>C (p.G515A), GRN(NM_002087.4):c.1544G>C (p.(Gly515Ala), p.G515A) - GRN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1321G>A r.(=) p.(=) Unknown - likely benign g.42429780C>T g.44352412C>T GRN(NM_002087.2):c.1485C>T (p.C495=) - GRN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1329G>A r.(=) p.(=) Unknown - pathogenic g.42429772C>T - GRN(NM_002087.2):c.1477C>T (p.R493*) - GRN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1338C>T r.(=) p.(=) Unknown - VUS g.42429763G>A g.44352395G>A GRN(NM_002087.2):c.1468G>A (p.V490M) - GRN_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1353C>T r.(=) p.(=) Unknown - VUS g.42429748G>A g.44352380G>A GRN(NM_002087.2):c.1453G>A (p.G485S) - FAM171A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1374G>C r.(=) p.(=) Unknown - likely benign g.42429727C>G g.44352359C>G GRN(NM_002087.2):c.1432C>G (p.R478G) - FAM171A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1381G>A r.(=) p.(=) Unknown - likely benign g.42429720C>T g.44352352C>T GRN(NM_002087.4):c.1425C>T (p.C475=) - GRN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1499A>G r.(=) p.(=) Unknown - VUS g.42429602T>C - GRN(NM_002087.2):c.1399T>C (p.(Cys467Arg)) - FAM171A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1525G>A r.(=) p.(=) Unknown - VUS g.42429576C>T - GRN(NM_002087.4):c.1373C>T (p.P458L) - GRN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1532_*1552del r.(=) p.(=) Unknown - VUS g.42429557_42429577del - GRN(NM_002087.4):c.1354_1374delGTGGGGCAGACCTGCTGCCCG (p.V452_P458del) - FAM171A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1557G>A r.(=) p.(=) Unknown - likely benign g.42429544C>T g.44352176C>T GRN(NM_002087.2):c.1341C>T (p.H447=) - GRN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1557G>A r.(=) p.(=) Unknown - likely benign g.42429544C>T - GRN(NM_002087.2):c.1341C>T (p.H447=) - GRN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1561T>A r.(=) p.(=) Unknown - likely benign g.42429540A>T - GRN(NM_002087.2):c.1337A>T (p.Q446L) - FAM171A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1600C>T r.(=) p.(=) Unknown - likely benign g.42429501G>A g.44352133G>A GRN(NM_002087.2):c.1298G>A (p.R433Q) - GRN_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1601G>A r.(=) p.(=) Unknown - benign g.42429500C>T g.44352132C>T GRN(NM_002087.2):c.1297C>T (p.R433W), GRN(NM_002087.4):c.1297C>T (p.R433W) - GRN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1601G>A r.(=) p.(=) Unknown - benign g.42429500C>T g.44352132C>T GRN(NM_002087.2):c.1297C>T (p.R433W), GRN(NM_002087.4):c.1297C>T (p.R433W) - GRN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1601G>A r.(=) p.(=) Unknown - VUS g.42429500C>T - GRN(NM_002087.2):c.1297C>T (p.R433W), GRN(NM_002087.4):c.1297C>T (p.R433W) - GRN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1632G>A r.(=) p.(=) Unknown - likely benign g.42429469C>T g.44352101C>T GRN(NM_002087.2):c.1266C>T (p.I422=), GRN(NM_002087.4):c.1266C>T (p.(Ile422=)) - FAM171A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1632G>A r.(=) p.(=) Unknown - likely benign g.42429469C>T - GRN(NM_002087.2):c.1266C>T (p.I422=), GRN(NM_002087.4):c.1266C>T (p.(Ile422=)) - FAM171A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1638del r.(?) p.(=) Unknown - pathogenic g.42429463del - GRN(NM_002087.2):c.1260delC (p.S420Rfs*71) - FAM171A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1645C>T r.(=) p.(=) Unknown - likely benign g.42429456G>A g.44352088G>A GRN(NM_002087.2):c.1253G>A (p.R418Q) - GRN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1645C>T r.(=) p.(=) Unknown - likely benign g.42429456G>A - GRN(NM_002087.2):c.1253G>A (p.R418Q) - GRN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1646G>A r.(=) p.(=) Unknown - pathogenic g.42429455C>T g.44352087C>T GRN(NM_002087.4):c.1252C>T (p.R418*) - GRN_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1646G>A r.(=) p.(=) Unknown - pathogenic g.42429455C>T - GRN(NM_002087.4):c.1252C>T (p.R418*) - GRN_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1657C>A r.(=) p.(=) Unknown - likely benign g.42429444G>T g.44352076G>T GRN(NM_002087.2):c.1241G>T (p.G414V), GRN(NM_002087.4):c.1241G>T (p.G414V) - GRN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1657C>A r.(=) p.(=) Unknown - likely benign g.42429444G>T g.44352076G>T GRN(NM_002087.2):c.1241G>T (p.G414V), GRN(NM_002087.4):c.1241G>T (p.G414V) - GRN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1670_*1671del r.(=) p.(=) Unknown - pathogenic g.42429434_42429435del g.44352066_44352067del GRN(NM_002087.2):c.1231_1232delGT (p.V411Sfs*2) - GRN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1671C>T r.(=) p.(=) Unknown - benign g.42429430G>A g.44352062G>A GRN(NM_002087.2):c.1227G>A (p.T409=), GRN(NM_002087.4):c.1227G>A (p.T409=) - GRN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1671C>T r.(=) p.(=) Unknown - likely benign g.42429430G>A - GRN(NM_002087.2):c.1227G>A (p.T409=), GRN(NM_002087.4):c.1227G>A (p.T409=) - GRN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1677G>T r.(=) p.(=) Unknown - likely benign g.42429424C>A g.44352056C>A GRN(NM_002087.4):c.1221C>A (p.G407=) - FAM171A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1694G>A r.(=) p.(=) Unknown - VUS g.42429407C>T g.44352039C>T GRN(NM_002087.2):c.1204C>T (p.H402Y) - GRN_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1726G>A r.(=) p.(=) Unknown - likely benign g.42429375C>T - GRN(NM_002087.2):c.1180-8C>T - FAM171A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1960dup r.(?) p.(=) Unknown - pathogenic g.42429144dup g.44351776dup GRN(NM_002087.2):c.1160dupG (p.C388Lfs*26) - GRN_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2076C>T r.(=) p.(=) Unknown - likely benign g.42429025G>A g.44351657G>A GRN(NM_002087.2):c.1041G>A (p.K347=) - GRN_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2147C>T r.(=) p.(=) Unknown - benign g.42428954G>A g.44351586G>A GRN(NM_002087.2):c.970G>A (p.A324T), GRN(NM_002087.4):c.970G>A (p.A324T) - GRN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2147C>T r.(=) p.(=) Unknown - likely benign g.42428954G>A g.44351586G>A GRN(NM_002087.2):c.970G>A (p.A324T), GRN(NM_002087.4):c.970G>A (p.A324T) - GRN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2147C>T r.(=) p.(=) Unknown - likely benign g.42428954G>A - GRN(NM_002087.2):c.970G>A (p.A324T), GRN(NM_002087.4):c.970G>A (p.A324T) - GRN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2173_*2174del r.(=) p.(=) Unknown - pathogenic g.42428929_42428930del g.44351561_44351562del GRN(NM_002087.2):c.945_946delTG (p.C315*) - FAM171A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2257C>T r.(=) p.(=) Unknown - likely benign g.42428844G>A - GRN(NM_002087.2):c.933+16G>A - FAM171A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2258G>C r.(=) p.(=) Unknown - VUS g.42428843C>G g.44351475C>G GRN(NM_002087.2):c.933+15C>G - FAM171A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2266T>A r.(=) p.(=) Unknown - VUS g.42428835A>T g.44351467A>T GRN(NM_002087.2):c.933+7A>T - FAM171A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2268G>C r.(=) p.(=) Unknown - likely benign g.42428833C>G - GRN(NM_002087.4):c.933+5C>G - FAM171A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2268G>T r.(=) p.(=) Unknown - likely benign g.42428833C>A g.44351465C>A GRN(NM_002087.2):c.933+5C>A - GRN_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2303C>T r.(=) p.(=) Unknown - likely benign g.42428798G>A g.44351430G>A GRN(NM_002087.2):c.903G>A (p.S301=), GRN(NM_002087.4):c.903G>A (p.S301=) - GRN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2303C>T r.(=) p.(=) Unknown - likely benign g.42428798G>A g.44351430G>A GRN(NM_002087.2):c.903G>A (p.S301=), GRN(NM_002087.4):c.903G>A (p.S301=) - GRN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2303C>T r.(=) p.(=) Unknown - likely benign g.42428798G>A - GRN(NM_002087.2):c.903G>A (p.S301=), GRN(NM_002087.4):c.903G>A (p.S301=) - GRN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2304G>A r.(=) p.(=) Unknown - likely benign g.42428797C>T g.44351429C>T GRN(NM_002087.2):c.902C>T (p.S301L) - FAM171A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2313C>T r.(=) p.(=) Unknown - VUS g.42428788G>A g.44351420G>A GRN(NM_002087.4):c.893G>A (p.R298H) - GRN_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2373G>A r.(=) p.(=) Unknown - likely benign g.42428728C>T - GRN(NM_002087.4):c.836-3C>T - GRN_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2563C>T r.(=) p.(=) Unknown - benign g.42428538G>A g.44351170G>A GRN(NM_002087.2):c.835+7G>A, GRN(NM_002087.4):c.835+7G>A - FAM171A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2563C>T r.(=) p.(=) Unknown - benign g.42428538G>A g.44351170G>A GRN(NM_002087.2):c.835+7G>A, GRN(NM_002087.4):c.835+7G>A - FAM171A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2563C>T r.(=) p.(=) Unknown - benign g.42428538G>A g.44351170G>A GRN(NM_002087.2):c.835+7G>A, GRN(NM_002087.4):c.835+7G>A - FAM171A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2563C>T r.(=) p.(=) Unknown - benign g.42428538G>A - GRN(NM_002087.2):c.835+7G>A, GRN(NM_002087.4):c.835+7G>A - FAM171A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2645del r.(?) p.(=) Unknown - pathogenic g.42428456del g.44351088del GRN(NM_002087.4):c.760delG (p.D254Tfs*2) - GRN_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2681C>G r.(=) p.(=) Unknown - VUS g.42428420G>C g.44351052G>C GRN(NM_002087.2):c.724G>C (p.D242H) - FAM171A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2682G>A r.(=) p.(=) Unknown - likely benign g.42428419C>T g.44351051C>T GRN(NM_002087.4):c.723C>T (p.S241=) - FAM171A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2708C>G r.(=) p.(=) Unknown - likely benign g.42428393G>C g.44351025G>C GRN(NM_002087.2):c.709-12G>C, GRN(NM_002087.4):c.709-12G>C - GRN_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2708C>G r.(=) p.(=) Unknown - likely benign g.42428393G>C g.44351025G>C GRN(NM_002087.2):c.709-12G>C, GRN(NM_002087.4):c.709-12G>C - GRN_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2925T>A r.(=) p.(=) Unknown - likely benign g.42428176A>T - GRN(NM_002087.2):c.708+8A>T - FAM171A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2932C>T r.(=) p.(=) Unknown - pathogenic g.42428169G>A g.44350801G>A GRN(NM_002087.2):c.708+1G>A - GRN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2936G>T r.(=) p.(=) Unknown - likely benign g.42428165C>A g.44350797C>A GRN(NM_002087.2):c.705C>A (p.P235=) - GRN_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3007G>A r.(=) p.(=) Unknown - VUS g.42428094C>T - GRN(NM_002087.2):c.634C>T (p.R212W) - GRN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3208C>T r.(=) p.(=) Unknown - likely benign g.42427893G>A - GRN(NM_002087.2):c.546G>A (p.T182=), GRN(NM_002087.4):c.546G>A (p.T182=) - GRN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3208C>T r.(=) p.(=) Unknown - likely benign g.42427893G>A - GRN(NM_002087.2):c.546G>A (p.T182=), GRN(NM_002087.4):c.546G>A (p.T182=) - GRN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3209G>A r.(=) p.(=) Unknown - likely benign g.42427892C>T - GRN(NM_002087.2):c.545C>T (p.T182M) - GRN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3224C>A r.(=) p.(=) Unknown - VUS g.42427877G>T - GRN(NM_002087.2):c.530G>T (p.R177L) - FAM171A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3236A>G r.(=) p.(=) Unknown - VUS g.42427865T>C g.44350497T>C GRN(NM_002087.4):c.518T>C (p.L173P) - FAM171A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3241G>A r.(=) p.(=) Unknown - likely benign g.42427860C>T - GRN(NM_002087.2):c.513C>T (p.C171=) - FAM171A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3309T>C r.(=) p.(=) Unknown - likely benign g.42427792A>G g.44350424A>G GRN(NM_002087.4):c.463-18A>G - GRN_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3369C>T r.(=) p.(=) Unknown - benign g.42427732G>A g.44350364G>A GRN(NM_002087.2):c.462+24G>A - GRN_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3440A>G r.(=) p.(=) Unknown - VUS g.42427661T>C g.44350293T>C GRN(NM_002087.4):c.415T>C (p.(Cys139Arg), p.C139R) - GRN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3440A>G r.(=) p.(=) Unknown - VUS g.42427661T>C - GRN(NM_002087.4):c.415T>C (p.(Cys139Arg), p.C139R) - GRN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3462G>C r.(=) p.(=) Unknown - likely benign g.42427639C>G g.44350271C>G GRN(NM_002087.4):c.393C>G (p.F131L) - FAM171A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3467_*3470del r.(=) p.(=) Unknown - pathogenic g.42427634_42427637del g.44350266_44350269del GRN(NM_002087.4):c.388_391delCAGT (p.Q130Sfs*125) - GRN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3469C>T r.(=) p.(=) Unknown - likely benign g.42427632G>A g.44350264G>A GRN(NM_002087.4):c.386G>A (p.S129N) - FAM171A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3471A>G r.(=) p.(=) Unknown - benign g.42427630T>C g.44350262T>C GRN(NM_002087.2):c.384T>C (p.D128=), GRN(NM_002087.4):c.384T>C (p.(Asp128=), p.D128=) - GRN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3471A>G r.(=) p.(=) Unknown - benign g.42427630T>C g.44350262T>C GRN(NM_002087.2):c.384T>C (p.D128=), GRN(NM_002087.4):c.384T>C (p.(Asp128=), p.D128=) - GRN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3471A>G r.(=) p.(=) Unknown - benign g.42427630T>C g.44350262T>C GRN(NM_002087.2):c.384T>C (p.D128=), GRN(NM_002087.4):c.384T>C (p.(Asp128=), p.D128=) - GRN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3471A>G r.(=) p.(=) Unknown - benign g.42427630T>C g.44350262T>C GRN(NM_002087.2):c.384T>C (p.D128=), GRN(NM_002087.4):c.384T>C (p.(Asp128=), p.D128=) - GRN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3471A>G r.(=) p.(=) Unknown - benign g.42427630T>C - GRN(NM_002087.2):c.384T>C (p.D128=), GRN(NM_002087.4):c.384T>C (p.(Asp128=), p.D128=) - GRN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3482G>A r.(=) p.(=) Unknown - pathogenic g.42427619C>T g.44350251C>T GRN(NM_002087.2):c.373C>T (p.Q125*), GRN(NM_002087.4):c.373C>T (p.Q125*) - GRN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3482G>A r.(=) p.(=) Unknown - pathogenic g.42427619C>T g.44350251C>T GRN(NM_002087.2):c.373C>T (p.Q125*), GRN(NM_002087.4):c.373C>T (p.Q125*) - GRN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3496G>T r.(=) p.(=) Unknown - VUS g.42427605C>A g.44350237C>A GRN(NM_002087.2):c.359C>A (p.S120Y), GRN(NM_002087.4):c.359C>A (p.S120Y) - GRN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3496G>T r.(=) p.(=) Unknown - VUS g.42427605C>A - GRN(NM_002087.2):c.359C>A (p.S120Y), GRN(NM_002087.4):c.359C>A (p.S120Y) - GRN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3553_*3556dup r.(=) p.(=) Unknown - benign g.42427546_42427549dup g.44350178_44350181dup GRN(NM_002087.2):c.350-50_350-47dupGTCA - FAM171A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3970C>A r.(=) p.(=) Unknown - likely benign g.42427131G>T g.44349763G>T GRN(NM_002087.4):c.349+12G>T - GRN_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4002C>T r.(=) p.(=) Unknown - VUS g.42427099G>A g.44349731G>A GRN(NM_002087.2):c.329G>A (p.R110Q) - GRN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4052C>T r.(=) p.(=) Unknown - likely benign g.42427049G>A g.44349681G>A GRN(NM_002087.2):c.279G>A (p.G93=), GRN(NM_002087.4):c.279G>A (p.G93=) - GRN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4052C>T r.(=) p.(=) Unknown - likely benign g.42427049G>A - GRN(NM_002087.2):c.279G>A (p.G93=), GRN(NM_002087.4):c.279G>A (p.G93=) - GRN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4055G>A r.(=) p.(=) Unknown - likely benign g.42427046C>T - GRN(NM_002087.4):c.276C>T (p.C92=) - FAM171A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4064G>A r.(=) p.(=) Unknown - likely benign g.42427037C>T g.44349669C>T GRN(NM_002087.2):c.267C>T (p.A89=) - GRN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4161C>T r.(=) p.(=) Unknown - benign g.42426940G>A g.44349572G>A GRN(NM_002087.2):c.264+21G>A - GRN_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4175C>T r.(=) p.(=) Unknown - benign g.42426926G>A g.44349558G>A GRN(NM_002087.2):c.264+7G>A (p.?), GRN(NM_002087.4):c.264+7G>A - GRN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4175C>T r.(=) p.(=) Unknown - likely benign g.42426926G>A g.44349558G>A GRN(NM_002087.2):c.264+7G>A (p.?), GRN(NM_002087.4):c.264+7G>A - GRN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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