Full data view for gene PRDM6

Information The variants shown are described using the NM_001136239.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.133A>G r.(?) p.(Ser45Gly) Unknown - likely benign g.122425842A>G - PRDM6(NM_001136239.3):c.133A>G (p.S45G) - PRDM6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>G r.(?) p.(Pro47Arg) Unknown - likely benign g.122425849C>G - PRDM6(NM_001136239.4):c.140C>G (p.(Pro47Arg)) - PRDM6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.162_167dup r.(?) p.(Pro58_Pro59dup) Unknown - VUS g.122425871_122425876dup g.123090176_123090181dup PRDM6(NM_001136239.1):c.152_153insGCCGCC (p.(Gln51_Pro52insProPro)), PRDM6(NM_001136239.3):c.162_167dupGCCGCC (p.P58_P59dup), PRDM6(NM_001136239.4)... - PRDM6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162_167dup r.(?) p.(Pro58_Pro59dup) Unknown - likely benign g.122425871_122425876dup g.123090176_123090181dup PRDM6(NM_001136239.1):c.152_153insGCCGCC (p.(Gln51_Pro52insProPro)), PRDM6(NM_001136239.3):c.162_167dupGCCGCC (p.P58_P59dup), PRDM6(NM_001136239.4)... - PRDM6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162_167dup r.(?) p.(Pro58_Pro59dup) Unknown - likely benign g.122425871_122425876dup g.123090176_123090181dup PRDM6(NM_001136239.1):c.152_153insGCCGCC (p.(Gln51_Pro52insProPro)), PRDM6(NM_001136239.3):c.162_167dupGCCGCC (p.P58_P59dup), PRDM6(NM_001136239.4)... - PRDM6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.190C>G r.(?) p.(Pro64Ala) Unknown - likely benign g.122425899C>G - PRDM6(NM_001136239.3):c.190C>G (p.P64A) - PRDM6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.265_266insTCGCCTCCT r.(?) p.(Thr88_Ser89insPheAlaSer) Unknown - likely benign g.122425974_122425975insTCGCCTCCT - PRDM6(NM_001136239.4):c.265_266insTCGCCTCCT (p.(Thr88_Ser89insPheAlaSer)) - PRDM6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268_285dup r.(?) p.(Ala90_Ser95dup) Unknown - likely benign g.122425977_122425994dup - PRDM6(NM_001136239.3):c.268_285dupGCCTCCTCCGCCTCCTCC (p.A90_S95dup) - PRDM6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.281_282insTTCCGCCTC r.(?) p.(Ala93_Ser95dup) Unknown - likely benign g.122425990_122425991insTTCCGCCTC - PRDM6(NM_001136239.4):c.281_282insTTCCGCCTC (p.(Ala93_Ser95dup)) - PRDM6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A r.(?) p.(Gly107Asp) Unknown - VUS g.122426029G>A - PRDM6(NM_001136239.4):c.320G>A (p.(Gly107Asp)) - PRDM6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326C>T r.(?) p.(Ser109Leu) Unknown - likely benign g.122426035C>T g.123090340C>T PRDM6(NM_001136239.1):c.326C>T (p.(Ser109Leu)) - PRDM6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400C>A r.(?) p.(Pro134Thr) Unknown - VUS g.122426109C>A - PRDM6(NM_001136239.4):c.400C>A (p.P134T) - PRDM6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401C>T r.(?) p.(Pro134Leu) Unknown - likely benign g.122426110C>T - PRDM6(NM_001136239.1):c.401C>T (p.(Pro134Leu)), PRDM6(NM_001136239.3):c.401C>T (p.P134L) - PRDM6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401C>T r.(?) p.(Pro134Leu) Unknown - likely benign g.122426110C>T - PRDM6(NM_001136239.1):c.401C>T (p.(Pro134Leu)), PRDM6(NM_001136239.3):c.401C>T (p.P134L) - PRDM6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>G r.(?) p.(Pro147=) Unknown - likely benign g.122426150C>G - PRDM6(NM_001136239.3):c.441C>G (p.P147=) - PRDM6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.471_473dup r.(?) p.(Gly158dup) Unknown - VUS g.122426180_122426182dup - PRDM6(NM_001136239.4):c.471_473dup (p.(Gly158dup)) - PRDM6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473_487dup r.(?) p.(Gly158_Gly162dup) Unknown - VUS g.122426182_122426196dup - PRDM6(NM_001136239.1):c.473_487dupGGGAGGGTCGCGGCG (p.(Gly158_Gly162dup)) - PRDM6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487_501dup r.(?) p.(Ala163_Arg167dup) Unknown - VUS g.122426196_122426210dup g.123090501_123090515dup - - PRDM6_000008 - PubMed: Kiselev 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
-?/. - c.520G>A r.(?) p.(Asp174Asn) Unknown - likely benign g.122426229G>A - PRDM6(NM_001136239.4):c.520G>A (p.D174N) - PRDM6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575C>G r.(?) p.(Thr192Ser) Unknown - likely benign g.122426284C>G g.123090589C>G PRDM6(NM_001136239.1):c.575C>G (p.(Thr192Ser)) - PRDM6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.592+4C>A r.spl? p.? Unknown - likely benign g.122426305C>A - PRDM6(NM_001136239.4):c.592+4C>A - PRDM6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(=) Unknown - likely benign g.122435524C>T - PRDM6(NM_001136239.4):c.768C>T (p.(Pro256=)) - PRDM6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776C>T r.(?) p.(Ala259Val) Unknown - VUS g.122435532C>T - PRDM6(NM_001136239.1):c.776C>T (p.(Ala259Val)) - PRDM6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784A>G r.(?) p.(Ile262Val) Unknown - likely benign g.122435540A>G - PRDM6(NM_001136239.4):c.784A>G (p.(Ile262Val)) - PRDM6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.826C>G r.(?) p.(Pro276Ala) Unknown - VUS g.122435582C>G - PRDM6(NM_001136239.4):c.826C>G (p.P276A) - PRDM6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900+5G>A r.spl? p.? Unknown - likely benign g.122435661G>A - PRDM6(NM_001136239.1):c.900+5G>A (p.?) - PRDM6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.913G>A r.(?) p.(Asp305Asn) Unknown - VUS g.122491590G>A g.123155896G>A PRDM6(NM_001136239.3):c.913G>A (p.D305N) - PRDM6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046G>A r.(?) p.(Arg349Gln) Unknown - likely benign g.122495225G>A - PRDM6(NM_001136239.4):c.1046G>A (p.(Arg349Gln)) - PRDM6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123C>T r.(?) p.(Pro375Ser) Unknown - VUS g.122495302C>T - PRDM6(NM_001136239.1):c.1123C>T (p.(Pro375Ser)) - PRDM6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1163C>T r.(?) p.(Pro388Leu) Unknown - likely benign g.122506469C>T - PRDM6(NM_001136239.4):c.1163C>T (p.P388L) - PRDM6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197C>T r.(?) p.(=) Unknown - likely benign g.122506503C>T - PRDM6(NM_001136239.4):c.1197C>T (p.(Asp399=)) - PRDM6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254C>T r.(?) p.(Ser418=) Unknown - likely benign g.122506560C>T - PRDM6(NM_001136239.3):c.1254C>T (p.S418=), PRDM6(NM_001136239.4):c.1254C>T (p.(Ser418=)) - PRDM6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254C>T r.(?) p.(Ser418=) Unknown - likely benign g.122506560C>T - PRDM6(NM_001136239.3):c.1254C>T (p.S418=), PRDM6(NM_001136239.4):c.1254C>T (p.(Ser418=)) - PRDM6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1255G>A r.(?) p.(Val419Ile) Unknown - likely benign g.122506561G>A - PRDM6(NM_001136239.1):c.1255G>A (p.(Val419Ile)) - PRDM6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1270A>G r.(?) p.(Thr424Ala) Unknown - likely benign g.122506576A>G - PRDM6(NM_001136239.4):c.1270A>G (p.T424A) - PRDM6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1301A>T r.(?) p.(Asp434Val) Unknown - likely benign g.122506607A>T - PRDM6(NM_001136239.4):c.1301A>T (p.(Asp434Val)) - PRDM6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1593C>T r.(?) p.(Cys531=) Unknown - likely benign g.122515937C>T - PRDM6(NM_001136239.3):c.1593C>T (p.C531=) - PRDM6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1611C>T r.(?) p.(=) Unknown - likely benign g.122515955C>T - PRDM6(NM_001136239.4):c.1611C>T (p.(Ala537=)) - PRDM6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617C>T r.(?) p.(=) Unknown - likely benign g.122515961C>T - PRDM6(NM_001136239.4):c.1617C>T (p.(Ala539=)) - PRDM6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1700C>G r.(?) p.(Thr567Arg) Unknown - VUS g.122522807C>G - PRDM6(NM_001136239.1):c.1700C>G (p.(Thr567Arg)) - PRDM6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1739A>T r.(?) p.(Asn580Ile) Unknown - VUS g.122522846A>T g.123187152A>T PRDM6(NM_001136239.4):c.1739A>T (p.N580I) - PRDM6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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