Unique variants in the NR2C2AP gene

Information The variants shown are described using the NM_176880.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.*224C>T r.(=) p.(=) - likely benign g.19312510G>A g.19201701G>A RFXANK(NM_003721.2):c.765G>A (p.V255=) - MEF2BNB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*1134_*1136dup r.(=) p.(=) - likely benign g.19311622_19311624dup - RFXANK(NM_001370237.1):c.710-6_710-4dup - MEF2BNB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2672C>G r.(=) p.(=) - likely benign g.19310062G>C g.19199253G>C RFXANK(NM_003721.2):c.712+19G>C - MEF2BNB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.*2687T>C r.(=) p.(=) - benign g.19310047A>G g.19199238A>G RFXANK(NM_003721.2):c.712+4A>G - RFXANK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*3235C>T r.(=) p.(=) - VUS g.19309499G>A - RFXANK(NM_003721.2):c.598G>A (p.G200R) - MEF2BNB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3780G>A r.(=) p.(=) - likely benign g.19308954C>T - RFXANK(NM_003721.2):c.477C>T (p.S159=) - MEF2BNB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.*3780G>T r.(=) p.(=) - likely pathogenic g.19308954C>A g.19198145C>A - - RFXANK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*4380T>A r.(=) p.(=) - pathogenic g.19308354A>T g.19197545A>T - - RFXANK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*4670G>A r.(=) p.(=) - likely benign g.19308064C>T - RFXANK(NM_003721.2):c.337+4C>T - MEF2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*4720G>A r.(=) p.(=) - likely benign g.19308014C>T - RFXANK(NM_003721.2):c.291C>T (p.L97=) - MEF2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*4979A>G r.(=) p.(=) - likely benign g.19307755T>C - RFXANK(NM_003721.2):c.188-17T>C - MEF2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., ?/. 3 - c.*7792C>T r.(=) p.(=) - likely pathogenic, VUS g.19304942G>A g.19194133G>A RFXANK(NM_003721.2):c.187G>A (p.A63T) - MEF2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 - c.*7835C>G r.(=) p.(=) - benign g.19304899G>C g.19194090G>C RFXANK(NM_003721.2):c.144G>C (p.E48D) - RFXANK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.*7923G>C r.(=) p.(=) - pathogenic g.19304811C>G g.19194002C>G - - RFXANK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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