Full data view for gene GAN

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_022041.3 transcript reference sequence.

167 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     
+?/. _1_1i c.-148_(167+1_168-1){0} r.0? p.0? Unknown - likely pathogenic (recessive) g.(?_81348571)_(81348886_81385187)del - c.1-?_167+?del - GAN_000096 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-GAN-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. _1_1i c.-148_(167+1_168-1){0} r.0? p.0? Unknown - likely pathogenic (recessive) g.(?_81348571)_(81348886_81385187)del - c.1-?_167+?del - GAN_000096 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-GAN-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.18_19insA r.(?) p.(Val7Serfs*3) Unknown - pathogenic g.81348736_81348737insA g.81315131_81315132insA - - GAN_000022 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.18_19insA r.(?) p.(Val7SerfsTer3) Unknown - pathogenic g.81348736_81348737insA g.81315131_81315132insA GAN(NM_022041.4):c.18_19insA (p.V7Sfs*3) - GAN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27C>T r.(?) p.(Asp9=) Unknown - likely benign g.81348745C>T g.81315140C>T GAN(NM_022041.3):c.27C>T (p.D9=) - GAN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.43C>A r.(?) p.(Arg15Ser) Unknown - pathogenic g.81348761C>A g.81315156C>A - - GAN_000031 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.43C>A r.(?) p.(Arg15Ser) Unknown - pathogenic g.81348761C>A g.81315156C>A GAN(NM_022041.4):c.43C>A (p.R15S) - GAN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.46C>T r.(=) p.(=) Parent #1 - benign g.81348764C>T g.81315159C>T - - GAN_000052 - - - rs77470936 Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.46C>T r.(?) p.(Leu16=) Unknown - benign g.81348764C>T g.81315159C>T GAN(NM_022041.4):c.46C>T (p.L16=) - GAN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.91G>A r.(?) p.(Asp31Asn) Paternal (inferred) - VUS g.81348809G>A g.81315204G>A - - GAN_000043 - - - - Germline - - - - - DNA PCR, SEQ - - GAN1 - - - F - United States - - - - - 1 Tom Winder
?/. 1 c.91G>A r.(?) p.(Asp31Asn) Maternal (inferred) - VUS g.81348809G>A g.81315204G>A - - GAN_000043 - - - - Germline - - - - - DNA PCR, SEQ - - GAN1 - - - F - United States - - - - - 1 Tom Winder
+/. 9 c.145G>A r.(?) p.(Ala49Thr) Unknown - pathogenic g.81348863G>A g.81315258G>A - - GAN_000012 - PubMed: Bruno 2004 - - Germline - - - - - DNA SEQ - - GAN1 - {PMID14718689:Bruno 2004} - - - - - - - - - 1 Johan den Dunnen
+/. - c.145G>A r.(?) p.(Ala49Thr) Unknown - pathogenic g.81348863G>A g.81315258G>A GAN(NM_022041.4):c.145G>A (p.A49T) - GAN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>A r.(?) p.(Ala49=) Unknown - likely benign g.81348865G>A - GAN(NM_022041.3):c.147G>A (p.A49=) - GAN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.151G>C r.(?) p.(Ala51Pro) Unknown - pathogenic g.81348869G>C g.81315264G>C - - GAN_000014 - PubMed: Houlden 2007 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Houlden 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.151G>C r.(?) p.(Ala51Pro) Unknown - pathogenic g.81348869G>C g.81315264G>C GAN(NM_022041.4):c.151G>C (p.A51P) - GAN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.154A>G r.(?) p.(Ser52Gly) Unknown - pathogenic g.81348872A>G g.81315267A>G - - GAN_000016 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.154A>G r.(?) p.(Ser52Gly) Unknown - pathogenic g.81348872A>G g.81315267A>G GAN(NM_022041.4):c.154A>G (p.S52G) - GAN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.168-1G>A r.spl? p.? Unknown - pathogenic g.81385187G>A g.81351582G>A GAN(NM_022041.4):c.168-1G>A - GAN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.213T>A r.(?) p.(Tyr71*) Unknown - pathogenic g.81385233T>A g.81351628T>A - - GAN_000023 - PubMed: Houlden 2007 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Houlden 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.213T>A r.(?) p.(Tyr71Ter) Unknown - pathogenic g.81385233T>A g.81351628T>A GAN(NM_022041.4):c.213T>A (p.Y71*) - GAN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.224T>A r.(?) p.(Leu75His) Unknown - pathogenic g.81385244T>A g.81351639T>A - - GAN_000024 - PubMed: Zhang 2009 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Zhang 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.236C>T r.(?) p.(Ser79Leu) Unknown - pathogenic g.81385256C>T g.81351651C>T - - GAN_000025 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.236C>T r.(?) p.(Ser79Leu) Unknown - pathogenic g.81385256C>T g.81351651C>T GAN(NM_022041.4):c.236C>T (p.S79L) - GAN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.244G>T r.(?) p.(Val82Phe) Unknown - pathogenic g.81385264G>T g.81351659G>T - - GAN_000026 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.244G>T r.(?) p.(Val82Phe) Unknown - pathogenic g.81385264G>T g.81351659G>T GAN(NM_022041.4):c.244G>T (p.V82F) - GAN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.256A>T r.(?) p.(Ile86Phe) Unknown - pathogenic g.81385276A>T g.81351671A>T - - GAN_000027 - PubMed: Bomont 2003 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.256A>T r.(?) p.(Ile86Phe) Unknown - pathogenic g.81385276A>T g.81351671A>T GAN(NM_022041.4):c.256A>T (p.I86F) - GAN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.261G>C r.(?) p.(Leu87=) Unknown - likely benign g.81385281G>C - GAN(NM_022041.4):c.261G>C (p.L87=) - GAN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.266A>G r.(?) p.(Tyr89Cys) Unknown - pathogenic g.81385286A>G g.81351681A>G - - GAN_000028 - PubMed: Koop 2007 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Koop 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.266A>G r.(?) p.(Tyr89Cys) Unknown - pathogenic g.81385286A>G g.81351681A>G GAN(NM_022041.4):c.266A>G (p.Y89C) - GAN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.278G>A r.(?) p.(Gly93Glu) Both (homozygous) - VUS g.81385298G>A g.81351693G>A - - GAN_000097 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-277 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 2i c.282+1G>A r.spl p.? Parent #1 - likely pathogenic g.81385303G>A g.81351698G>A - - GAN_000044 - - - - Germline - - - - - DNA PCR, SEQ - - GAN1 - - - F - Brazil - - - - - 1 Tom Winder
-?/. - c.282+7_282+9del r.(=) p.(=) Unknown - likely benign g.81385309_81385311del g.81351704_81351706del GAN(NM_022041.3):c.282+7_282+9delTGA - GAN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.283-20T>C r.(=) p.(=) Unknown - likely benign g.81387990T>C - GAN(NM_022041.4):c.283-20T>C - GAN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340C>G r.(?) p.(Leu114Val) Unknown - VUS g.81388067C>G g.81354462C>G GAN(NM_022041.4):c.340C>G (p.L114V) - GAN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.343_360del r.(?) p.(Thr115_Leu120del) Unknown - pathogenic g.81388070_81388087del g.81354465_81354482del - - GAN_000029 - PubMed: Bomont 2003 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.413G>A r.(?) p.(Arg138His) Unknown - pathogenic g.81388140G>A g.81354535G>A - - GAN_000030 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.413G>A r.(?) p.(Arg138His) Unknown - pathogenic g.81388140G>A g.81354535G>A GAN(NM_022041.4):c.413G>A (p.R138H) - GAN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479A>G r.(?) p.(His160Arg) Unknown - VUS g.81388206A>G g.81354601A>G GAN(NM_022041.3):c.479A>G (p.H160R) - GAN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.484C>T r.(?) p.(Arg162*) Parent #1 - pathogenic g.81388211C>T g.81354606C>T - - GAN_000032 - - - - Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 3 c.484C>T r.(?) p.(Arg162*) Unknown - pathogenic g.81388211C>T g.81354606C>T - - GAN_000032 - PubMed: Akagi 2011 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Akagi 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.492C>T r.(?) p.(Val164=) Unknown - likely benign g.81388219C>T - GAN(NM_022041.4):c.492C>T (p.V164=) - GAN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500C>G r.(?) p.(Thr167Arg) Unknown - VUS g.81388227C>G - GAN(NM_022041.4):c.500C>G (p.(Thr167Arg)) - GAN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.505G>A r.(?) p.(Glu169Lys) Unknown - pathogenic g.81388232G>A g.81354627G>A - - GAN_000033 - PubMed: Tazir 2009 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Tazir 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.514G>C r.(?) p.(Glu172Gln) Unknown - VUS g.81388241G>C g.81354636G>C GAN(NM_022041.4):c.514G>C (p.E172Q) - GAN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.545T>A r.(?) p.(Ile182Asn) Unknown - pathogenic g.81388272T>A g.81354667T>A - - GAN_000034 - PubMed: Leung 2007 - - Germline - - - - - DNA SEQ - - ? - PubMed: Leung 2007 - - - - - - - - - 1 Johan den Dunnen
?/. - c.565G>T r.(?) p.(Val189Phe) Unknown - VUS g.81388292G>T g.81354687G>T GAN(NM_022041.4):c.565G>T (p.V189F) - GAN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.583G>T r.(?) p.(Val195Phe) Unknown - pathogenic g.81388310G>T g.81354705G>T - - GAN_000035 - PubMed: Koop 2007 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Koop 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.583G>T r.(?) p.(Val195Phe) Unknown - pathogenic g.81388310G>T g.81354705G>T GAN(NM_022041.4):c.583G>T (p.V195F) - GAN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.601C>T r.(?) p.(Arg201*) Unknown - pathogenic g.81388328C>T g.81354723C>T - - GAN_000036 - PubMed: Kuhlenbaumer 2002 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Kuhlenbaumer 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.601C>T r.(?) p.(Arg201Ter) Unknown - pathogenic g.81388328C>T g.81354723C>T GAN(NM_022041.4):c.601C>T (p.R201*) - GAN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.633+1G>T r.spl? p.? Unknown - pathogenic g.81388361G>T g.81354756G>T GAN(NM_022041.4):c.633+1G>T - GAN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.671C>A r.(?) p.(Ser224Ter) Unknown - pathogenic g.81390427C>A g.81356822C>A GAN(NM_022041.3):c.671C>A (p.S224*) - GAN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715C>T r.(?) p.(Pro239Ser) Unknown - VUS g.81390471C>T - GAN(NM_022041.4):c.715C>T (p.(Pro239Ser)) - GAN_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.724C>T r.(?) p.(Arg242*) Parent #1 - pathogenic g.81390480C>T g.81356875C>T - - GAN_000037 - - - - Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 4 c.724C>T r.(?) p.(Arg242*) Unknown - pathogenic g.81390480C>T g.81356875C>T - - GAN_000037 - PubMed: Bomont 2003 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.724C>T r.(?) p.(Arg242Ter) Unknown - pathogenic g.81390480C>T g.81356875C>T GAN(NM_022041.4):c.724C>T (p.R242*) - GAN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725G>A r.(?) p.(Arg242Gln) Unknown - VUS g.81390481G>A - GAN(NM_022041.4):c.725G>A (p.(Arg242Gln)) - GAN_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730A>G r.(?) p.(Ile244Val) Unknown - likely benign g.81390486A>G g.81356881A>G GAN(NM_022041.3):c.730A>G (p.I244V), GAN(NM_022041.4):c.730A>G (p.I244V) - GAN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730A>G r.(?) p.(Ile244Val) Unknown - likely benign g.81390486A>G - GAN(NM_022041.3):c.730A>G (p.I244V), GAN(NM_022041.4):c.730A>G (p.I244V) - GAN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.732del r.(?) p.(Ile244Metfs*33) Parent #1 - pathogenic g.81390488del g.81356883del - - GAN_000050 - - - - Unknown - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.773A>C r.(?) p.(Gln258Pro) Unknown - VUS g.81390529A>C g.81356924A>C GAN(NM_022041.4):c.773A>C (p.Q258P) - GAN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.805C>T r.(?) p.(Arg269Trp) Parent #1 - pathogenic g.81390561C>T g.81356956C>T - - GAN_000051 - - - - Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 4 c.806G>A r.(?) p.(Arg269Gln) Unknown - pathogenic g.81390562G>A g.81356957G>A - - GAN_000038 - PubMed: Bomont 2003 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.806G>A r.(?) p.(Arg269Gln) Unknown - pathogenic g.81390562G>A g.81356957G>A GAN(NM_022041.4):c.806G>A (p.R269Q) - GAN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.847A>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.81390603A>T - GAN(NM_022041.4):c.847A>T (p.R283*) - GAN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850G>C r.(?) p.(Val284Leu) Unknown - VUS g.81390606G>C - GAN(NM_022041.4):c.850G>C (p.(Val284Leu)) - GAN_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.851+1G>A r.spl? p.? Parent #1 - likely pathogenic g.81390608G>A g.81357003G>A - - GAN_000001 - - - - Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. 4i c.851+1G>A r.spl p.? Paternal (inferred) - likely pathogenic g.81390608G>A g.81357003G>A - - GAN_000001 - - - - Germline - - - - - DNA PCR, SEQ - - GAN1 - - - F - United States Hispanic - - - - 1 Tom Winder
+?/. 4i c.851+1G>A r.spl p.? Maternal (inferred) - likely pathogenic g.81390608G>A g.81357003G>A - - GAN_000001 - - - - Germline - - - - - DNA PCR, SEQ - - GAN1 - - - F - United States Hispanic - - - - 1 Tom Winder
+/. 4i c.851+5G>A r.spl? p.? Parent #1 - pathogenic g.81390612G>A g.81357007G>A - - GAN_000045 - - - - Germline - - - - - DNA PCR, SEQ - - GAN1 - - - - - United States - - - - - 1 Tom Winder
+/. 5 c.877C>T r.(?) p.(Arg293*) Unknown - pathogenic g.81391440C>T g.81357835C>T - - GAN_000039 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.877C>T r.(?) p.(Arg293Ter) Unknown - pathogenic g.81391440C>T g.81357835C>T GAN(NM_022041.4):c.877C>T (p.R293*) - GAN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.896A>C r.(?) p.(Tyr299Ser) Unknown - pathogenic g.81391459A>C g.81357854A>C GAN(NM_022041.4):c.896A>C (p.Y299S) - GAN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.896A>G r.(?) p.(Tyr299Cys) Unknown - pathogenic g.81391459A>G g.81357854A>G - - GAN_000040 - PubMed: Bruno 2004 - - Germline - - - - - DNA SEQ - - GAN1 - {PMID14718689:Bruno 2004} - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.926T>G r.(?) p.(Leu309Arg) Unknown - pathogenic g.81391489T>G g.81357884T>G - - GAN_000041 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.926T>G r.(?) p.(Leu309Arg) Unknown - pathogenic g.81391489T>G g.81357884T>G GAN(NM_022041.4):c.926T>G (p.L309R) - GAN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.944C>T r.(?) p.(Pro315Leu) Unknown - pathogenic g.81391507C>T g.81357902C>T - - GAN_000042 - PubMed: Bruno 2004 - rs144486241 Germline - - - - - DNA SEQ - - GAN1 - {PMID14718689:Bruno 2004} - - - - - - - - - 1 Johan den Dunnen
+/. - c.944C>T r.(?) p.(Pro315Leu) Unknown - pathogenic g.81391507C>T g.81357902C>T GAN(NM_022041.3):c.944C>T (p.P315L), GAN(NM_022041.4):c.944C>T (p.P315L, p.(Pro315Leu)) - GAN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944C>T r.(?) p.(Pro315Leu) Unknown - VUS g.81391507C>T - GAN(NM_022041.3):c.944C>T (p.P315L), GAN(NM_022041.4):c.944C>T (p.P315L, p.(Pro315Leu)) - GAN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.944C>T r.(?) p.(Pro315Leu) Unknown - likely pathogenic g.81391507C>T - GAN(NM_022041.3):c.944C>T (p.P315L), GAN(NM_022041.4):c.944C>T (p.P315L, p.(Pro315Leu)) - GAN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.945G>A r.(?) p.(Pro315=) Unknown - likely benign g.81391508G>A - GAN(NM_022041.3):c.945G>A (p.P315=) - GAN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.971C>T r.(?) p.(Ala324Val) Parent #1 - VUS g.81391534C>T g.81357929C>T - - GAN_000053 - - - - Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 5i c.973+38C>G r.(=) p.(=) Parent #1 - benign g.81391574C>G g.81357969C>G - - GAN_000049 - - - rs77352895 Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. 6 c.994G>A r.(?) p.(Gly332Arg) Parent #1 - likely benign g.81396124G>A g.81362519G>A - - GAN_000047 - - - - Unknown - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 6 c.1012A>T r.(?) p.(Lys338*) Unknown - pathogenic g.81396142A>T g.81362537A>T - - GAN_000004 - PubMed: Bomont 2003 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1012A>T r.(?) p.(Lys338Ter) Unknown - pathogenic g.81396142A>T g.81362537A>T GAN(NM_022041.4):c.1012A>T (p.K338*) - GAN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045C>T r.(?) p.(Pro349Ser) Unknown - VUS g.81396175C>T - GAN(NM_022041.4):c.1045C>T (p.P349S) - GAN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1055A>G r.[(1055a>g),spl] p.[(Asn352Ser),?] Both (homozygous) - pathogenic (recessive) g.81396185A>G g.81362580A>G - - GAN_000092 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR61Pat1 PubMed: Santos-Cortez 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.1055A>G r.[(1055a>g),spl] p.[(Asn352Ser),?] Both (homozygous) - pathogenic (recessive) g.81396185A>G g.81362580A>G - - GAN_000092 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR61Pat2 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.1059A>G r.(?) p.(Thr353=) Unknown - likely benign g.81396189A>G g.81362584A>G GAN(NM_022041.3):c.1059A>G (p.T353=) - GAN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1086+1G>C r.spl? p.? Unknown - pathogenic g.81396217G>C g.81362612G>C GAN(NM_022041.4):c.1086+1G>C - GAN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1086+71C>T r.(=) p.(=) Unknown - benign g.81396287C>T g.81362682C>T GAN(NM_022041.4):c.1086+71C>T - GAN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1102G>A r.(?) p.(Gly368Arg) Unknown - pathogenic g.81397414G>A g.81363809G>A - - GAN_000005 - PubMed: Bomont 2003 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1102G>A r.(?) p.(Gly368Arg) Unknown - pathogenic g.81397414G>A g.81363809G>A GAN(NM_022041.4):c.1102G>A (p.G368R) - GAN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123A>T r.(?) p.(Met375Leu) Unknown - VUS g.81397435A>T - GAN(NM_022041.4):c.1123A>T (p.M375L) - GAN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1148A>T r.(?) p.(Asp383Val) Unknown - VUS g.81397460A>T g.81363855A>T GAN(NM_022041.4):c.1148A>T (p.D383V) - GAN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1179T>A r.(?) p.(Cys393*) Unknown - pathogenic g.81397491T>A g.81363886T>A - - GAN_000006 - PubMed: Bomont 2000 - - Germline - - - - - DNA SEQ - - GAN1 - PubMed: Bomont 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1179T>A r.(?) p.(Cys393Ter) Unknown - pathogenic g.81397491T>A g.81363886T>A GAN(NM_022041.4):c.1179T>A (p.C393*) - GAN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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