All variants in the MAP7D3 gene

Information The variants shown are described using the NM_024597.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

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     
?/. - c.31G>C r.(?) p.(Gly11Arg) - VUS g.135333487C>G g.136251328C>G MAP7D3(NM_001173517.1):c.31G>C (p.G11R) - MAP7D3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.40C>T r.(?) p.(Pro14Ser) - VUS g.135333478G>A g.136251319G>A MAP7D3(NM_001173517.1):c.40C>T (p.(Pro14Ser)) - MAP7D3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.115G>A r.(?) p.(Val39Met) - likely benign g.135328456C>T g.136246297C>T MAP7D3(NM_001173517.1):c.115G>A (p.V39M) - MAP7D3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.289_292del r.(?) p.(Lys97ProfsTer16) - VUS g.135326925_135326928del g.136244766_136244769del MAP7D3(NM_001173517.1):c.289_292delAAGA (p.K97Pfs*16) - MAP7D3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.360G>A r.(?) R1005Q - VUS g.135326848C>T - R1005Q - MAP7D3_000027 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. 4 c.387T>C r.(?) E120E - VUS g.135326821A>G - E120E - MAP7D3_000026 recurrent, found 30 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 30/208 cases - 0 - Lucy Raymond
?/. 5 c.449C>G r.(?) F129F - VUS g.135323405G>C - F129F - MAP7D3_000025 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. 5 c.468C>T r.(?) S150C - VUS g.135323386G>A - S150C - MAP7D3_000024 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.511A>G r.(?) p.(Met171Val) - benign g.135323343T>C g.136241184T>C MAP7D3(NM_001173517.1):c.511A>G (p.M171V) - MAP7D3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.525G>A r.(?) p.(Glu175=) - likely benign g.135323329C>T - MAP7D3(NM_001173517.1):c.525G>A (p.E175=) - MAP7D3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.736+13T>A r.(=) p.(=) - likely benign g.135318390A>T - MAP7D3(NM_024597.4):c.736+13T>A - MAP7D3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.784C>T r.(?) p.(Arg262Cys) - likely benign g.135314332G>A g.136232173G>A MAP7D3(NM_001173517.1):c.679C>T (p.R227C) - MAP7D3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.814G>T r.(?) p.(Val272Phe) - likely benign g.135314302C>A g.136232143C>A MAP7D3(NM_001173517.1):c.709G>T (p.V237F) - MAP7D3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1004C>G r.(?) p.(Thr335Arg) - VUS g.135314112G>C - MAP7D3(NM_001173517.1):c.899C>G (p.T300R) - MAP7D3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1038G>A r.(?) p.(Ser346=) - likely benign g.135314078C>T g.136231919C>T MAP7D3(NM_001173517.1):c.933G>A (p.S311=) - MAP7D3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1414-60del r.(=) p.(=) - VUS g.135313185del g.136231026del - - MAP7D3_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1460G>A r.(?) p.(Arg487His) - likely benign g.135313079C>T g.136230920C>T MAP7D3(NM_001173517.1):c.1355G>A (p.R452H) - MAP7D3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1467A>G r.(?) p.(Ser489=) - likely benign g.135313072T>C g.136230913T>C MAP7D3(NM_001173517.1):c.1362A>G (p.S454=) - MAP7D3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 9i c.IVS9+1G>C r.spl p.? - VUS g.135312997C>G - I156I - MAP7D3_000023 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 10 c.1728G>A r.(?) M576I - VUS g.135312566C>T - M576I - MAP7D3_000022 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 11 c.1758G>A r.(?) E586E - VUS g.135310910C>T - E586E - MAP7D3_000021 recurrent, found 10 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 10/208 cases - 0 - Lucy Raymond
?/. 11 c.1763C>T r.(?) P588L - VUS g.135310905G>A - P588L - MAP7D3_000020 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. - c.1990A>G r.(?) p.(Lys664Glu) - VUS g.135309487T>C g.136227328T>C MAP7D3(NM_001173516.1):c.1936A>G (p.(Lys646Glu)) - MAP7D3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2078G>A r.(?) p.(Arg693His) - likely benign g.135308129C>T g.136225970C>T MAP7D3(NM_001173517.1):c.1973G>A (p.R658H) - MAP7D3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2123G>A r.(?) p.(Arg708Gln) - likely benign g.135308084C>T g.136225925C>T MAP7D3(NM_001173516.1):c.2069G>A (p.(Arg690Gln)) - MAP7D3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 14 c.2156C>T r.(?) A719V - VUS g.135307023G>A - A719V - MAP7D3_000019 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.2193G>C r.(?) p.(Lys731Asn) - VUS g.135306986C>G - MAP7D3(NM_001173517.1):c.2088G>C (p.K696N) - MAP7D3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2244C>T r.(?) p.(Asn748=) - likely benign g.135304595G>A - MAP7D3(NM_001173517.1):c.2139C>T (p.N713=) - MAP7D3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2277G>T r.(?) p.(Met759Ile) - likely benign g.135304562C>A g.136222403C>A MAP7D3(NM_001173517.1):c.2172G>T (p.M724I) - MAP7D3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 16 c.2396A>C r.(?) E799A - VUS g.135303014T>G - E799A - MAP7D3_000018 recurrent, found 83 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 83/208 cases - 0 - Lucy Raymond
-?/. - c.2412A>G r.(?) p.(Thr804=) - likely benign g.135302998T>C g.136220839T>C MAP7D3(NM_001173517.1):c.2307A>G (p.T769=) - MAP7D3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 19 c.2774A>G r.(?) p.(=) - VUS g.135300542T>C - - - MAP7D3_000017 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 19 c.3014G>A r.(?) Q925R - VUS g.135300302C>T - Q925R - MAP7D3_000016 recurrent, found 96 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 96/208 cases - 0 - Lucy Raymond
-/. - c.*8521C>T r.(=) p.(=) - benign g.135292164G>A g.136210005G>A FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N) - FHL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*8521C>T r.(=) p.(=) - benign g.135292164G>A g.136210005G>A FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N) - FHL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*8521C>T r.(=) p.(=) - benign g.135292164G>A g.136210005G>A FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N) - FHL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*8521C>T r.(=) p.(=) - likely benign g.135292164G>A g.136210005G>A FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N) - FHL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*8521C>T r.(=) p.(=) - likely benign g.135292164G>A g.136210005G>A FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N) - FHL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*8536G>A r.(=) p.(=) - pathogenic g.135292149C>T g.136209990C>T FHL1(NM_001159699.1):c.856C>T (p.(Gln286Ter)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*) - FHL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*8536G>A r.(=) p.(=) - VUS g.135292149C>T g.136209990C>T FHL1(NM_001159699.1):c.856C>T (p.(Gln286Ter)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*) - FHL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*8536G>A r.(=) p.(=) - VUS g.135292149C>T g.136209990C>T FHL1(NM_001159699.1):c.856C>T (p.(Gln286Ter)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*) - FHL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*8575C>G r.(=) p.(=) - likely benign g.135292110G>C g.136209951G>C FHL1(NM_001159704.1):c.769G>C (p.V257L) - FHL1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*8575C>G r.(=) p.(=) - VUS g.135292110G>C g.136209951G>C FHL1(NM_001159704.1):c.769G>C (p.V257L) - FHL1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*8576G>A r.(=) p.(=) - VUS g.135292109C>T g.136209950C>T FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L) - FHL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.*8576G>A r.(=) p.(=) - likely benign g.135292109C>T g.136209950C>T FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L) - FHL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*8576G>A r.(=) p.(=) - VUS g.135292109C>T g.136209950C>T FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L) - FHL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*8600G>A r.(=) p.(=) - VUS g.135292085C>T g.136209926C>T FHL1(NM_001159702.3):c.944C>T (p.T315I) - FHL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*8600G>A r.(=) p.(=) - VUS g.135292085C>T g.136209926C>T FHL1(NM_001159702.3):c.944C>T (p.T315I) - FHL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*8606G>A r.(=) p.(=) - likely benign g.135292079C>T g.136209920C>T FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M) - FHL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*8606G>A r.(=) p.(=) - likely benign g.135292079C>T g.136209920C>T FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M) - FHL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*8606G>A r.(=) p.(=) - likely benign g.135292079C>T g.136209920C>T FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M) - FHL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*8606G>A r.(=) p.(=) - likely benign g.135292079C>T g.136209920C>T FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M) - FHL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*8606G>A r.(=) p.(=) - likely benign g.135292079C>T g.136209920C>T FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M) - FHL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*8663del r.(?) p.(=) - likely benign g.135292027del g.136209868del FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC - FHL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*8663del r.(?) p.(=) - benign g.135292027del g.136209868del FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC - FHL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*8663del r.(?) p.(=) - benign g.135292027del g.136209868del FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC - FHL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*8663G>A r.(=) p.(=) - benign g.135292022C>T g.136209863C>T FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T - FHL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*8663G>A r.(=) p.(=) - benign g.135292022C>T g.136209863C>T FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T - FHL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*8663G>A r.(=) p.(=) - benign g.135292022C>T g.136209863C>T FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T - FHL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*8663G>A r.(=) p.(=) - benign g.135292022C>T g.136209863C>T FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T - FHL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*8663_*8666del r.(=) p.(=) - likely benign g.135292019_135292022del g.136209860_136209863del FHL1(NM_001159704.1):c.689-11_689-8delTTTC - FHL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*8663_*8666del r.(=) p.(=) - benign g.135292019_135292022del g.136209860_136209863del FHL1(NM_001159704.1):c.689-11_689-8delTTTC - FHL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*8663_*8667del r.(=) p.(=) - benign g.135292018_135292022del g.136209859_136209863del FHL1(NM_001159704.1):c.689-12_689-8delTTTTC - FHL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*8663_*8667del r.(=) p.(=) - likely benign g.135292018_135292022del g.136209859_136209863del FHL1(NM_001159704.1):c.689-12_689-8delTTTTC - FHL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*8668A>G r.(=) p.(=) - benign g.135292017T>C g.136209858T>C FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de... - FHL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*8668A>G r.(=) p.(=) - benign g.135292017T>C g.136209858T>C FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de... - FHL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*8668A>G r.(=) p.(=) - benign g.135292017T>C g.136209858T>C FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de... - FHL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*8668A>G r.(=) p.(=) - likely benign g.135292017T>C g.136209858T>C FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de... - FHL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.*8668A>G r.(=) p.(=) - benign g.135292017T>C g.136209858T>C FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de... - FHL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*8672del r.(?) p.(=) - benign g.135292021del g.136209862del FHL1(NM_001159702.2):c.889-9delT, FHL1(NM_001159704.1):c.689-9delT - FHL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*8672del r.(?) p.(=) - benign g.135292021del g.136209862del FHL1(NM_001159702.2):c.889-9delT, FHL1(NM_001159704.1):c.689-9delT - FHL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*8672dup r.(?) p.(=) - benign g.135292021dup g.136209862dup FHL1(NM_001159699.1):c.737-9dup (p.(=)), FHL1(NM_001159704.1):c.689-9dupT - FHL1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*8672dup r.(?) p.(=) - likely benign g.135292021dup - FHL1(NM_001159699.1):c.737-9dup (p.(=)), FHL1(NM_001159704.1):c.689-9dupT - FHL1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*8673del r.(?) p.(=) - likely benign g.135292012del g.136209853del FHL1(NM_001159704.1):c.689-18delC - FHL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*8673del r.(?) p.(=) - benign g.135292012del g.136209853del FHL1(NM_001159704.1):c.689-18delC - FHL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*8683_*8687dup r.(=) p.(=) - likely benign g.135292012_135292016dup g.136209853_136209857dup FHL1(NM_001159704.1):c.689-13delTinsCTTTTT - FHL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*9066C>T r.(=) p.(=) - benign g.135291619G>A g.136209460G>A FHL1(NM_001159704.1):c.689-411G>A - FHL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.*9117dup r.(?) p.(=) - VUS g.135291573dup g.136209414dup FHL1(NM_001159702.3):c.860dupA (p.N287Kfs*62) - FHL1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*9185C>T r.(=) p.(=) - VUS g.135291500G>A - FHL1(NM_001159702.2):c.787G>A (p.A263T) - FHL1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*9215T>C r.(=) p.(=) - VUS g.135291470A>G g.136209311A>G FHL1(NM_001159702.3):c.757A>G (p.K253E) - FHL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.*9239T>C r.(=) p.(=) - VUS g.135291446A>G - - - FHL1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*9952A>G r.(=) p.(=) - likely benign g.135290733T>C g.136208574T>C - - FHL1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*9969C>A r.(=) p.(=) - VUS g.135290716G>T g.136208557G>T FHL1(NM_001159704.1):c.604G>T (p.A202S) - FHL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.*9993del r.(?) p.(=) - likely pathogenic g.135290693del g.136208534del FHL1(NM_001159704.1):c.581delA (p.K194Sfs*64) - FHL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.*10010C>A r.(=) p.(=) - VUS g.135290675G>T g.136208516G>T FHL1(NM_001159702.2):c.563G>T (p.C188F), FHL1(NM_001159704.1):c.563G>T (p.C188F) - FHL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*10010C>A r.(=) p.(=) - VUS g.135290675G>T g.136208516G>T FHL1(NM_001159702.2):c.563G>T (p.C188F), FHL1(NM_001159704.1):c.563G>T (p.C188F) - FHL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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