Full data view for gene RLTPR

NOTE: gene name changed from RLTPR to CARMIL2
Information The variants shown are described using the NM_001013838.1 transcript reference sequence.

106 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.28T>G r.(?) p.(Cys10Gly) Unknown - VUS g.67679177T>G - CARMIL2(NM_001013838.3):c.28T>G (p.C10G) - ACD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41-5C>G r.spl? p.? Unknown - likely benign g.67679438C>G g.67645535C>G CARMIL2(NM_001013838.3):c.41-5C>G - ACD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.142C>T r.(?) p.(Arg48*) Unknown - likely pathogenic g.67679636C>T - CARMIL2(NM_001013838.3):c.142C>T (p.R48*) - ACD_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198G>T r.(?) p.(Thr66=) Unknown - likely benign g.67679932G>T g.67646029G>T CARMIL2(NM_001013838.2):c.198G>T (p.T66=), CARMIL2(NM_001013838.3):c.198G>T (p.T66=) - ACD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198G>T r.(?) p.(Thr66=) Unknown - likely benign g.67679932G>T - CARMIL2(NM_001013838.2):c.198G>T (p.T66=), CARMIL2(NM_001013838.3):c.198G>T (p.T66=) - ACD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>A r.(?) p.(Ala76Thr) Unknown - likely benign g.67679960G>A g.67646057G>A CARMIL2(NM_001013838.2):c.226G>A (p.A76T) - ACD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267G>A r.(?) p.(Glu89=) Unknown - likely benign g.67680106G>A - CARMIL2(NM_001013838.3):c.267G>A (p.E89=) - ACD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366G>A r.(?) p.(Ser122=) Unknown - likely benign g.67680205G>A g.67646302G>A CARMIL2(NM_001013838.2):c.366G>A (p.S122=) - ACD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406A>G r.(?) p.(Met136Val) Unknown - likely benign g.67680360A>G - CARMIL2(NM_001013838.3):c.406A>G (p.M136V) - ACD_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.416G>A r.(?) p.(Arg139Gln) Unknown - likely benign g.67680370G>A - CARMIL2(NM_001013838.2):c.416G>A (p.R139Q) - ACD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514C>G r.(?) p.(Pro172Ala) Unknown - VUS g.67680664C>G g.67646761C>G CARMIL2(NM_001013838.3):c.514C>G (p.P172A) - RLTPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>T r.(?) p.(Asp180=) Unknown - likely benign g.67680805C>T g.67646902C>T CARMIL2(NM_001013838.2):c.540C>T (p.D180=), CARMIL2(NM_001013838.3):c.540C>T (p.D180=) - ACD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>T r.(?) p.(Asp180=) Unknown - likely benign g.67680805C>T g.67646902C>T CARMIL2(NM_001013838.2):c.540C>T (p.D180=), CARMIL2(NM_001013838.3):c.540C>T (p.D180=) - ACD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.541G>A r.(?) p.(Val181Met) Unknown - likely benign g.67680806G>A - RLTPR(NM_001013838.1):c.541G>A (p.(Val181Met)) - ACD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542T>G r.(?) p.(Val181Gly) Unknown - VUS g.67680807T>G - RLTPR(NM_001013838.1):c.542T>G (p.(Val181Gly)) - ACD_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.774G>T r.(?) p.(Arg258Ser) Unknown - VUS g.67681288G>T g.67647385G>T CARMIL2(NM_001013838.2):c.774G>T (p.R258S), CARMIL2(NM_001013838.3):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.774G>T r.(?) p.(Arg258Ser) Unknown - VUS g.67681288G>T g.67647385G>T CARMIL2(NM_001013838.2):c.774G>T (p.R258S), CARMIL2(NM_001013838.3):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774G>T r.(?) p.(Arg258Ser) Unknown - likely benign g.67681288G>T - CARMIL2(NM_001013838.2):c.774G>T (p.R258S), CARMIL2(NM_001013838.3):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.787C>T r.(?) p.(Arg263*) Unknown - pathogenic g.67681421C>T - CARMIL2(NM_001013838.3):c.787C>T (p.R263*) - ACD_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797C>T r.(?) p.(Ala266Val) Unknown - VUS g.67681431C>T g.67647528C>T CARMIL2(NM_001013838.2):c.797C>T (p.A266V) - RLTPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810G>A r.(?) p.(Ala270=) Unknown - likely benign g.67681444G>A g.67647541G>A CARMIL2(NM_001013838.2):c.810G>A (p.A270=), CARMIL2(NM_001013838.3):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810G>A r.(?) p.(Ala270=) Unknown - likely benign g.67681444G>A g.67647541G>A CARMIL2(NM_001013838.2):c.810G>A (p.A270=), CARMIL2(NM_001013838.3):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.868C>T r.(?) p.(Arg290Ter) Unknown - pathogenic g.67681502C>T g.67647599C>T - - ACD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.958+13_958+25del r.(=) p.(=) Unknown - likely benign g.67681682_67681694del - CARMIL2(NM_001013838.3):c.958+13_958+25delAGGGAGGGGGTGA - ACD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010C>T r.(?) p.(Thr337Ile) Unknown - likely benign g.67681800C>T g.67647897C>T CARMIL2(NM_001013838.2):c.1010C>T (p.T337I), RLTPR(NM_001013838.1):c.1010C>T (p.(Thr337Ile)) - ACD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1010C>T r.(?) p.(Thr337Ile) Unknown - VUS g.67681800C>T - CARMIL2(NM_001013838.2):c.1010C>T (p.T337I), RLTPR(NM_001013838.1):c.1010C>T (p.(Thr337Ile)) - ACD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047G>C r.(?) p.(Ala349=) Unknown - likely benign g.67681837G>C g.67647934G>C CARMIL2(NM_001013838.2):c.1047G>C (p.A349=) - RLTPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1063G>A r.(?) p.(Asp355Asn) Unknown - VUS g.67681853G>A g.67647950G>A CARMIL2(NM_001013838.2):c.1063G>A (p.D355N) - RLTPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1089G>T r.(?) p.(=) Unknown - VUS g.67681972G>T - CARMIL2(NM_001013838.3):c.1089G>T (p.(Leu363=)) - ACD_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1172del r.(?) p.(Gly391Aspfs*3) Unknown - pathogenic g.67682055del - CARMIL2(NM_001013838.3):c.1172delG (p.G391Dfs*3) - ACD_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1334+8G>C r.(=) p.(=) Unknown - likely benign g.67682225G>C - CARMIL2(NM_001013838.3):c.1334+8G>C - ACD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1334+16C>T r.(=) p.(=) Unknown - likely benign g.67682233C>T - CARMIL2(NM_001013838.3):c.1334+16C>T - ACD_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1429G>A r.(?) p.(Asp477Asn) Unknown - likely benign g.67682395G>A - CARMIL2(NM_001013838.3):c.1429G>A (p.(Asp477Asn)) - ACD_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1439+9C>T r.(=) p.(=) Unknown - likely benign g.67682414C>T - CARMIL2(NM_001013838.2):c.1439+9C>T - ACD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1491G>C r.(?) p.(Leu497=) Unknown - likely benign g.67682639G>C - CARMIL2(NM_001013838.2):c.1491G>C (p.L497=) - ACD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1509+13C>T r.(=) p.(=) Unknown - likely benign g.67682670C>T - CARMIL2(NM_001013838.3):c.1509+13C>T - ACD_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1554C>T r.(?) p.(Asp518=) Unknown - likely benign g.67682840C>T g.67648937C>T CARMIL2(NM_001013838.3):c.1554C>T (p.D518=) - ACD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1896G>T r.(?) p.(Ala632=) Unknown - likely benign g.67683499G>T g.67649596G>T CARMIL2(NM_001013838.3):c.1896G>T (p.A632=) - ACD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1919+6C>T r.(=) p.(=) Unknown - likely benign g.67683528C>T - CARMIL2(NM_001013838.3):c.1919+6C>T - ACD_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2083-11C>A r.(=) p.(=) Unknown - benign g.67683941C>A - CARMIL2(NM_001013838.3):c.2083-11C>A - ACD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2286C>T r.(?) p.(Ala762=) Unknown - likely benign g.67685191C>T g.67651288C>T CARMIL2(NM_001013838.2):c.2286C>T (p.A762=), CARMIL2(NM_001013838.3):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2286C>T r.(?) p.(Ala762=) Unknown - likely benign g.67685191C>T g.67651288C>T CARMIL2(NM_001013838.2):c.2286C>T (p.A762=), CARMIL2(NM_001013838.3):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2314-10T>C r.(=) p.(=) Unknown - likely benign g.67685294T>C g.67651391T>C CARMIL2(NM_001013838.2):c.2314-10T>C - ACD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2314-6C>T r.(=) p.(=) Unknown - benign g.67685298C>T g.67651395C>T CARMIL2(NM_001013838.2):c.2314-6C>T - RLTPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2534G>A r.(?) p.(Gly845Asp) Unknown - likely benign g.67685694G>A - CARMIL2(NM_001013838.3):c.2534G>A (p.G845D) - ACD_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2570A>T r.(?) p.(Asp857Val) Unknown - VUS g.67685730A>T g.67651827A>T CARMIL2(NM_001013838.2):c.2570A>T (p.D857V) - RLTPR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2817+2T>C r.spl? p.? Unknown - likely pathogenic g.67686244T>C - - - ACD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2885-13G>C r.(=) p.(=) Unknown - likely benign g.67686909G>C - CARMIL2(NM_001013838.3):c.2885-13G>C - ACD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2887G>A r.(?) p.(Ala963Thr) Unknown - likely benign g.67686924G>A g.67653021G>A CARMIL2(NM_001013838.2):c.2887G>A (p.A963T), CARMIL2(NM_001013838.3):c.2887G>A (p.A963T) - ACD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2887G>A r.(?) p.(Ala963Thr) Unknown - VUS g.67686924G>A - CARMIL2(NM_001013838.2):c.2887G>A (p.A963T), CARMIL2(NM_001013838.3):c.2887G>A (p.A963T) - ACD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2977A>G r.(?) p.(Ser993Gly) Unknown - likely benign g.67687014A>G - CARMIL2(NM_001013838.3):c.2977A>G (p.S993G) - ACD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3186A>C r.(?) p.(Glu1062Asp) Unknown - VUS g.67688117A>C - CARMIL2(NM_001013838.2):c.3186A>C (p.E1062D) - ACD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3331C>A r.(?) p.(Arg1111=) Unknown - likely benign g.67688344C>A g.67654441C>A CARMIL2(NM_001013838.2):c.3331C>A (p.R1111=), CARMIL2(NM_001013838.3):c.3331C>A (p.R1111=) - ACD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3331C>A r.(?) p.(Arg1111=) Unknown - likely benign g.67688344C>A - CARMIL2(NM_001013838.2):c.3331C>A (p.R1111=), CARMIL2(NM_001013838.3):c.3331C>A (p.R1111=) - ACD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3338C>T r.(?) p.(Pro1113Leu) Unknown - VUS g.67688351C>T - CARMIL2(NM_001013838.3):c.3338C>T (p.P1113L) - ACD_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3551A>T r.(?) p.(Glu1184Val) Unknown - VUS g.67688564A>T g.67654661A>T CARMIL2(NM_001013838.2):c.3551A>T (p.E1184V) - ACD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3582+21dup r.(=) p.(=) Unknown - likely benign g.67688616dup - CARMIL2(NM_001013838.3):c.3582+21dupG - ACD_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3845A>G r.(?) p.(Gln1282Arg) Unknown - likely benign g.67690357A>G - CARMIL2(NM_001013838.3):c.3845A>G (p.Q1282R) - ACD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3860C>A r.(?) p.(Ala1287Asp) Unknown - likely benign g.67690372C>A - CARMIL2(NM_001013838.3):c.3860C>A (p.A1287D) - ACD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3939T>C r.(?) p.(Pro1313=) Unknown - likely benign g.67690451T>C - CARMIL2(NM_001013838.3):c.3939T>C (p.P1313=) - ACD_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3974C>T r.(?) p.(Thr1325Ile) Unknown - likely benign g.67690486C>T g.67656583C>T CARMIL2(NM_001013838.2):c.3974C>T (p.T1325I) - ACD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4037-16C>T r.(=) p.(=) Unknown - likely benign g.67690688C>T - CARMIL2(NM_001013838.3):c.4037-16C>T - ACD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4117+6G>A r.(=) p.(=) Unknown - likely benign g.67690790G>A - CARMIL2(NM_001013838.2):c.4117+6G>A - ACD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4226C>G r.(?) p.(Pro1409Arg) Unknown - likely benign g.67691339C>G g.67657436C>G CARMIL2(NM_001013838.2):c.4226C>G (p.P1409R), CARMIL2(NM_001013838.3):c.4226C>G (p.P1409R) - RLTPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4226C>G r.(?) p.(Pro1409Arg) Unknown - VUS g.67691339C>G - CARMIL2(NM_001013838.2):c.4226C>G (p.P1409R), CARMIL2(NM_001013838.3):c.4226C>G (p.P1409R) - RLTPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*28A>G r.(=) p.(=) Unknown - VUS g.67691449A>G - ACD(NM_001082486.2):c.*60T>C, CARMIL2(NM_001013838.3):c.*28A>G - ACD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*56A>T r.(=) p.(=) Unknown - benign g.67691477A>T - ACD(NM_001082486.2):c.*32T>A - ACD_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*94C>A r.(=) p.(=) Unknown - benign g.67691515C>A - ACD(NM_001082486.1):c.1629G>T (p.(Pro543=)) - ACD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*129G>A r.(=) p.(=) Unknown - likely benign g.67691550G>A - ACD(NM_001082486.2):c.1336C>T (p.L446=) - ACD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*224G>T r.(=) p.(=) Unknown - benign g.67691645G>T - ACD(NM_001082486.2):c.1298+20C>A - ACD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*247A>G r.(=) p.(=) Unknown - benign g.67691668A>G - ACD(NM_001082486.2):c.1295T>C (p.V432A) - ACD_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*469C>T r.(=) p.(=) Unknown - likely pathogenic g.67691890C>T - ACD(NM_001082486.2):c.1205G>A (p.W402*) - ACD_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*496C>T r.(=) p.(=) Unknown - VUS g.67691917C>T - ACD(NM_001082486.1):c.1436G>A (p.(Arg479Lys)) - ACD_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*700G>T r.(=) p.(=) Unknown - likely benign g.67692121G>T - ACD(NM_001082487.1):c.1223C>A (p.(Thr408Asn)) - ACD_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*751C>T r.(=) p.(=) Unknown - likely benign g.67692172C>T - ACD(NM_001082486.2):c.923G>A (p.G308E) - ACD_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*828G>A r.(=) p.(=) Unknown - likely benign g.67692249G>A g.67658346G>A ACD(NM_001082486.2):c.846C>T (p.P282=) - ACD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1045_*1056del r.(=) p.(=) Unknown - VUS g.67692466_67692477del g.67658563_67658574del ACD(NM_001082486.2):c.817_828delCCCAGTTCCTCA (p.P273_S276del) - ACD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1045_*1056del r.(=) p.(=) Unknown - VUS g.67692466_67692477del - ACD(NM_001082486.2):c.817_828delCCCAGTTCCTCA (p.P273_S276del) - ACD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1045_*1056del r.(=) p.(=) Unknown - VUS g.67692466_67692477del - ACD(NM_001082486.2):c.817_828delCCCAGTTCCTCA (p.P273_S276del) - ACD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1047G>A r.(=) p.(=) Unknown - likely benign g.67692468G>A g.67658565G>A ACD(NM_001082486.2):c.819C>T (p.P273=) - ACD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1065G>A r.(=) p.(=) Unknown - benign g.67692486G>A - ACD(NM_001082486.2):c.801C>T (p.A267=) - ACD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1140G>A r.(=) p.(=) Unknown - likely benign g.67692561G>A - ACD(NM_001082486.2):c.743-17C>T - ACD_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1298C>T r.(=) p.(=) Unknown - VUS g.67692719C>T - - - ACD_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1442T>C r.(=) p.(=) Unknown - VUS g.67692863T>C g.67658960T>C ACD(NM_001082486.2):c.613A>G (p.T205A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1442T>C r.(=) p.(=) Unknown - likely benign g.67692863T>C g.67658960T>C ACD(NM_001082486.2):c.613A>G (p.T205A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1442T>C r.(=) p.(=) Unknown - likely benign g.67692863T>C - ACD(NM_001082486.2):c.613A>G (p.T205A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1488A>G r.(=) p.(=) Unknown - likely benign g.67692909A>G - ACD(NM_001082486.1):c.825T>C (p.(Ala275=)) - ACD_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1492A>G r.(=) p.(=) Unknown - VUS g.67692913A>G - ACD(NM_001082486.1):c.821T>C (p.(Leu274Pro)) - ACD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1572G>A r.(=) p.(=) Unknown - likely benign g.67692993G>A - ACD(NM_001082486.1):c.752-11C>T (p.(=)) - ACD_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1750A>G r.(=) p.(=) Unknown - likely benign g.67693171A>G - ACD(NM_001082486.2):c.459-5T>C - ACD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2122dup r.(?) p.(=) Unknown - likely benign g.67693543dup - ACD(NM_001082486.2):c.337-21dupC - ACD_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2122dup r.(?) p.(=) Unknown - likely benign g.67693543dup - ACD(NM_001082486.2):c.337-21dupC - ACD_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2270_*2272del r.(=) p.(=) Unknown - pathogenic g.67693691_67693693del g.67659788_67659790del - - ACD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2370dup r.(?) p.(=) Unknown - likely benign g.67693791dup - ACD(NM_001082486.2):c.242+15dupG - ACD_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2490G>A r.(=) p.(=) Unknown - VUS g.67693911G>A - ACD(NM_001082486.1):c.395C>T (p.(Ser132Phe)) - ACD_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2495G>A r.(=) p.(=) Unknown - likely benign g.67693916G>A - ACD(NM_001082486.2):c.132C>T (p.G44=) - ACD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2520T>C r.(=) p.(=) Unknown - VUS g.67693941T>C - ACD(NM_022914.3):c.100-2A>G - ACD_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2623C>T r.(=) p.(=) Unknown - benign g.67694044C>T g.67660141C>T ACD(NM_001082486.1):c.338G>A (p.(Arg113Gln)), ACD(NM_001082486.2):c.80G>A (p.R27Q) - ACD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2623C>T r.(=) p.(=) Unknown - likely benign g.67694044C>T g.67660141C>T ACD(NM_001082486.1):c.338G>A (p.(Arg113Gln)), ACD(NM_001082486.2):c.80G>A (p.R27Q) - ACD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2623C>T r.(=) p.(=) Unknown - likely benign g.67694044C>T - ACD(NM_001082486.1):c.338G>A (p.(Arg113Gln)), ACD(NM_001082486.2):c.80G>A (p.R27Q) - ACD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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