Full data view for gene SAMD9

Information The variants shown are described using the NM_017654.3 transcript reference sequence.

121 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.15T>A r.(?) p.(Leu5=) Unknown - VUS g.92735396A>T g.93106083A>T SAMD9(NM_001193307.1):c.15T>A (p.(=)) - SAMD9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95A>T r.(?) p.(His32Leu) Unknown - likely benign g.92735316T>A - SAMD9(NM_017654.3):c.95A>T (p.H32L) - SAMD9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.223C>T r.(?) p.(Arg75Trp) Unknown - benign g.92735188G>A - SAMD9(NM_001193307.1):c.223C>T (p.(Arg75Trp)) - SAMD9_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246G>A r.(?) p.(=) Unknown - likely benign g.92735165C>T - SAMD9(NM_017654.4):c.246G>A (p.S82=) - SAMD9_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.257C>T r.(?) p.(Ser86Phe) Unknown - likely benign g.92735154G>A - SAMD9(NM_001193307.1):c.257C>T (p.(Ser86Phe)) - SAMD9_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346G>A r.(?) p.(Gly116Ser) Unknown - likely benign g.92735065C>T g.93105752C>T SAMD9(NM_017654.3):c.346G>A (p.G116S) - SAMD9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382A>G r.(?) p.(Met128Val) Unknown - VUS g.92735029T>C g.93105716T>C SAMD9(NM_017654.3):c.382A>G (p.M128V) - SAMD9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.428T>C r.(?) p.(Ile143Thr) Unknown - benign g.92734983A>G - SAMD9(NM_017654.4):c.428T>C (p.(Ile143Thr), p.I143T) - SAMD9_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.428T>C r.(?) p.(Ile143Thr) Unknown - benign g.92734983A>G - SAMD9(NM_017654.4):c.428T>C (p.(Ile143Thr), p.I143T) - SAMD9_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A r.(?) p.(Pro193=) Unknown - likely benign g.92734832C>T - SAMD9(NM_017654.4):c.579G>A (p.P193=) - SAMD9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609A>G r.(?) p.(Thr203=) Unknown - likely benign g.92734802T>C g.93105489T>C SAMD9(NM_017654.3):c.609A>G (p.T203=) - SAMD9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662G>A r.(?) p.(Arg221Gln) Unknown - likely benign g.92734749C>T - SAMD9(NM_017654.3):c.662G>A (p.R221Q) - SAMD9_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730del r.(?) p.(His244Metfs*23) Unknown - VUS g.92734684del - SAMD9(NM_017654.4):c.730del (p.(His244Metfs*23)) - SAMD9_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.773A>C r.(?) p.(Glu258Ala) Unknown - likely pathogenic g.92734638T>G g.93105325T>G SAMD9(NM_001193307.1):c.773A>C (p.(Glu258Ala)) - SAMD9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.854G>A r.(?) p.(Arg285Gln) Unknown - likely benign g.92734557C>T - SAMD9(NM_001193307.1):c.854G>A (p.(Arg285Gln)) - SAMD9_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.960T>C r.(?) p.(Tyr320=) Unknown - benign g.92734451A>G - SAMD9(NM_017654.4):c.960T>C (p.Y320=) - SAMD9_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.982T>C r.(?) p.(Tyr328His) Unknown - likely benign g.92734429A>G - SAMD9(NM_001193307.1):c.982T>C (p.(Tyr328His)) - SAMD9_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1030C>T r.(?) p.(Arg344*) Maternal (confirmed) - pathogenic (recessive) g.92734381G>A g.93105068G>A R344X - SAMD9_000046 variant found in controls 5/154 Yemenite Jews, 0/183 non-Yemenite, 0/93 non-Jewish Yemenite PubMed: Chefetz 2008 - - Germline yes - - - - DNA SEQ - - NFTC FamPatII1 PubMed: Chefetz 2008 sister F ? Israel Jewish-Yemenite;Jewish-Morocco - - - - 1 Litika Vermani
+/. - c.1030C>T r.(?) p.(Arg344*) Maternal (confirmed) - pathogenic (recessive) g.92734381G>A g.93105068G>A R344X - SAMD9_000046 variant found in controls 5/154 Yemenite Jews, 0/183 non-Yemenite, 0/93 non-Jewish Yemenite PubMed: Chefetz 2008 - - Germline yes - - - - DNA microsat, PCRq, RFLP, SEQ - - NFTC Fam1;FamPatII2 PubMed: Topaz 2006, PubMed: Chefetz 2008 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; maternal grandparents Jewish-Yemenite origin, paternal grandmother/paternal grandfather Jewish-Moroccan origin M ? Israel Jewish-Yemenite;Jewish-Morocco - - - - 2 Litika Vermani
+/. - c.1030C>T r.(?) p.(Arg344*) Unknown - pathogenic g.92734381G>A - SAMD9(NM_017654.4):c.1030C>T (p.(Arg344Ter)) - SAMD9_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1052A>T r.(?) p.(Asp351Val) Unknown - likely benign g.92734359T>A g.93105046T>A SAMD9(NM_001193307.1):c.1052A>T (p.(Asp351Val)) - SAMD9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053C>T r.(?) p.(Asp351=) Unknown - likely benign g.92734358G>A - SAMD9(NM_017654.3):c.1053C>T (p.D351=) - SAMD9_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283T>G r.(?) p.(Leu428*) Unknown - VUS g.92734128A>C - SAMD9(NM_017654.4):c.1283T>G (p.(Leu428*)) - SAMD9_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1308G>A r.(?) p.(Trp436*) Unknown - VUS g.92734103C>T - SAMD9(NM_017654.4):c.1308G>A (p.(Trp436*), p.W436*) - SAMD9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1308G>A r.(?) p.(Trp436*) Unknown - VUS g.92734103C>T - SAMD9(NM_017654.4):c.1308G>A (p.(Trp436*), p.W436*) - SAMD9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1346A>G r.(?) p.(Asn449Ser) Unknown - likely benign g.92734065T>C - SAMD9(NM_001193307.1):c.1346A>G (p.(Asn449Ser)), SAMD9(NM_017654.4):c.1346A>G (p.N449S) - SAMD9_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1346A>G r.(?) p.(Asn449Ser) Unknown - benign g.92734065T>C - SAMD9(NM_001193307.1):c.1346A>G (p.(Asn449Ser)), SAMD9(NM_017654.4):c.1346A>G (p.N449S) - SAMD9_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347T>C r.(?) p.(Asn449=) Unknown - benign g.92734064A>G g.93104751A>G SAMD9(NM_017654.3):c.1347T>C (p.N449=), SAMD9(NM_017654.4):c.1347T>C (p.(Asn449=)) - SAMD9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347T>C r.(?) p.(Asn449=) Unknown - benign g.92734064A>G - SAMD9(NM_017654.3):c.1347T>C (p.N449=), SAMD9(NM_017654.4):c.1347T>C (p.(Asn449=)) - SAMD9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1360G>A r.(?) p.(Ala454Thr) Unknown - benign g.92734051C>T - SAMD9(NM_017654.4):c.1360G>A (p.A454T) - SAMD9_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411G>C r.(?) p.(Glu471Gln) Unknown - likely benign g.92734000C>G g.93104687C>G SAMD9(NM_001193307.1):c.1411G>C (p.(Glu471Gln)) - SAMD9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1436C>T r.(?) p.(Thr479Met) Unknown - benign g.92733975G>A - SAMD9(NM_017654.4):c.1436C>T (p.T479M) - SAMD9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1436C>T r.(?) p.(Thr479Met) Unknown - benign g.92733975G>A - SAMD9(NM_017654.4):c.1436C>T (p.T479M) - SAMD9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528C>T r.(?) p.(Pro510Ser) Unknown - likely benign g.92733883G>A - SAMD9(NM_017654.3):c.1528C>T (p.(Pro510Ser)) - SAMD9_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1645G>A r.(?) p.(Val549Met) Unknown - VUS g.92733766C>T g.93104453C>T - - SAMD9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1645G>T r.(?) p.(Val549Leu) Unknown - benign g.92733766C>A - SAMD9(NM_017654.4):c.1645G>T (p.V549L) - SAMD9_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1667T>C r.(?) p.(Leu556Pro) Unknown - VUS g.92733744A>G - SAMD9(NM_017654.4):c.1667T>C (p.(Leu556Pro)) - SAMD9_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1684G>A r.(?) p.(Ala562Thr) Unknown - likely benign g.92733727C>T g.93104414C>T SAMD9(NM_017654.3):c.1684G>A (p.A562T), SAMD9(NM_017654.4):c.1684G>A (p.(Ala562Thr)) - SAMD9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1684G>A r.(?) p.(Ala562Thr) Unknown - likely benign g.92733727C>T - SAMD9(NM_017654.3):c.1684G>A (p.A562T), SAMD9(NM_017654.4):c.1684G>A (p.(Ala562Thr)) - SAMD9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1762G>T r.(?) p.(Asp588Tyr) Unknown - VUS g.92733649C>A - SAMD9(NM_017654.4):c.1762G>T (p.D588Y) - SAMD9_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1766T>C r.(?) p.(Leu589Pro) Unknown - VUS g.92733645A>G g.93104332A>G SAMD9(NM_001193307.1):c.1766T>C (p.(Leu589Pro)) - SAMD9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1800_1801del r.(?) p.(Glu600AspfsTer12) Unknown - VUS g.92733611_92733612del g.93104298_93104299del SAMD9(NM_017654.3):c.1800_1801delAA (p.E600Dfs*12), SAMD9(NM_017654.4):c.1800_1801delAA (p.E600Dfs*12) - SAMD9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1800_1801del r.(?) p.(Glu600AspfsTer12) Unknown - VUS g.92733611_92733612del - SAMD9(NM_017654.3):c.1800_1801delAA (p.E600Dfs*12), SAMD9(NM_017654.4):c.1800_1801delAA (p.E600Dfs*12) - SAMD9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1880del r.(?) p.(Ser627Phefs*16) Unknown - likely pathogenic g.92733531del - SAMD9(NM_017654.3):c.1880delC (p.S627Ffs*16), SAMD9(NM_017654.4):c.1880del (p.(Ser627PhefsTer16)), SAMD9(NM_017654.4):c.1880delC (p.S627Ffs*16) - SAMD9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1880del r.(?) p.(Ser627Phefs*16) Unknown - VUS g.92733531del - SAMD9(NM_017654.3):c.1880delC (p.S627Ffs*16), SAMD9(NM_017654.4):c.1880del (p.(Ser627PhefsTer16)), SAMD9(NM_017654.4):c.1880delC (p.S627Ffs*16) - SAMD9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1880del r.(?) p.(Ser627Phefs*16) Unknown - VUS g.92733531del - SAMD9(NM_017654.3):c.1880delC (p.S627Ffs*16), SAMD9(NM_017654.4):c.1880del (p.(Ser627PhefsTer16)), SAMD9(NM_017654.4):c.1880delC (p.S627Ffs*16) - SAMD9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1912T>C r.(?) p.(Ser638Pro) Unknown - VUS g.92733499A>G - SAMD9(NM_017654.3):c.1912T>C (p.(Ser638Pro)) - SAMD9_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2002G>A r.(?) p.(Asp668Asn) Unknown - likely benign g.92733409C>T - SAMD9(NM_001193307.1):c.2002G>A (p.(Asp668Asn)) - SAMD9_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2004C>G r.(?) p.(Asp668Glu) Unknown - VUS g.92733407G>C - SAMD9(NM_017654.4):c.2004C>G (p.D668E) - SAMD9_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2051A>G r.(?) p.(Tyr684Cys) Unknown - likely pathogenic g.92733360T>C g.93104047T>C SAMD9(NM_017654.3):c.2051A>G (p.Y684C) - SAMD9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2053C>T r.(?) p.(Arg685Ter) Unknown - VUS g.92733358G>A - SAMD9(NM_017654.4):c.2053C>T (p.R685*) - SAMD9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2073G>A r.(?) p.(Trp691*) Unknown - VUS g.92733338C>T - SAMD9(NM_017654.4):c.2073G>A (p.W691*) - SAMD9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2130A>C r.(?) p.(Lys710Asn) Unknown - VUS g.92733281T>G - SAMD9(NM_017654.3):c.2130A>C (p.(Lys710Asn)) - SAMD9_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2254T>A r.(?) p.(Trp752Arg) Unknown - likely benign g.92733157A>T g.93103844A>T SAMD9(NM_017654.4):c.2254T>A (p.(Trp752Arg), p.W752R) - SAMD9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2254T>A r.(?) p.(Trp752Arg) Unknown - VUS g.92733157A>T - SAMD9(NM_017654.4):c.2254T>A (p.(Trp752Arg), p.W752R) - SAMD9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2429del r.(?) p.(Leu810Argfs*9) Unknown - VUS g.92732982del - SAMD9(NM_017654.4):c.2429del (p.(Leu810ArgfsTer9)) - SAMD9_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2471G>A r.(?) p.(Arg824Gln) Unknown - pathogenic g.92732940C>T g.93103627C>T - - SAMD9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2569C>T r.(?) p.(Leu857Phe) Unknown - likely pathogenic g.92732842G>A - - - SAMD9_000047 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2642A>G r.(?) p.(Asp881Gly) Unknown - likely benign g.92732769T>C - SAMD9(NM_001193307.1):c.2642A>G (p.(Asp881Gly)) - SAMD9_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2645T>G r.(?) p.(Phe882Cys) Unknown - VUS g.92732766A>C - SAMD9(NM_017654.3):c.2645T>G (p.(Phe882Cys)) - SAMD9_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2680A>G r.(?) p.(Lys894Glu) Unknown - benign g.92732731T>C - SAMD9(NM_017654.4):c.2680A>G (p.K894E) - SAMD9_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2686T>C r.(?) p.(Tyr896His) Unknown - VUS g.92732725A>G g.93103412A>G SAMD9(NM_017654.3):c.2686T>C (p.Y896H), SAMD9(NM_017654.4):c.2686T>C (p.Y896H) - SAMD9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2686T>C r.(?) p.(Tyr896His) Unknown - VUS g.92732725A>G - SAMD9(NM_017654.3):c.2686T>C (p.Y896H), SAMD9(NM_017654.4):c.2686T>C (p.Y896H) - SAMD9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2809_2819del r.(?) p.(Gln937Ilefs*17) Unknown - VUS g.92732593_92732603del - SAMD9(NM_017654.4):c.2809_2819del (p.(Gln937Ilefs*17)) - SAMD9_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2845G>T r.(?) p.(Ala949Ser) Unknown - likely benign g.92732566C>A g.93103253C>A SAMD9(NM_017654.3):c.2845G>T (p.A949S, p.(Ala949Ser)) - SAMD9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2845G>T r.(?) p.(Ala949Ser) Unknown - likely benign g.92732566C>A - SAMD9(NM_017654.3):c.2845G>T (p.A949S, p.(Ala949Ser)) - SAMD9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2920G>A r.(?) p.(Glu974Lys) Unknown - pathogenic g.92732491C>T g.93103178C>T SAMD9(NM_017654.4):c.2920G>A (p.E974K) - SAMD9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2938G>A r.(?) p.(Gly980Arg) Unknown - likely pathogenic g.92732473C>T - - - SAMD9_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3005T>C r.(?) p.(Leu1002Pro) Unknown - VUS g.92732406A>G g.93103093A>G SAMD9(NM_001193307.1):c.3005T>C (p.(Leu1002Pro)) - SAMD9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3008A>G r.(?) p.(Asn1003Ser) Unknown - likely benign g.92732403T>C - SAMD9(NM_017654.3):c.3008A>G (p.N1003S), SAMD9(NM_017654.4):c.3008A>G (p.(Asn1003Ser), p.N1003S) - SAMD9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3008A>G r.(?) p.(Asn1003Ser) Unknown - likely benign g.92732403T>C - SAMD9(NM_017654.3):c.3008A>G (p.N1003S), SAMD9(NM_017654.4):c.3008A>G (p.(Asn1003Ser), p.N1003S) - SAMD9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3008A>G r.(?) p.(Asn1003Ser) Unknown - likely benign g.92732403T>C - SAMD9(NM_017654.3):c.3008A>G (p.N1003S), SAMD9(NM_017654.4):c.3008A>G (p.(Asn1003Ser), p.N1003S) - SAMD9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3134G>T r.(?) p.(Gly1045Val) Unknown - VUS g.92732277C>A - SAMD9(NM_017654.3):c.3134G>T (p.(Gly1045Val)) - SAMD9_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3142G>A r.(?) p.(Gly1048Arg) Unknown - VUS g.92732269C>T - - - SAMD9_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3171A>G r.(?) p.(Ala1057=) Unknown - likely benign g.92732240T>C - SAMD9(NM_001193307.1):c.3171A>G (p.(=)) - SAMD9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3176A>G r.(?) p.(His1059Arg) Unknown - likely benign g.92732235T>C - SAMD9(NM_017654.3):c.3176A>G (p.H1059R) - SAMD9_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3192T>G r.(?) p.(Asn1064Lys) Unknown - likely benign g.92732219A>C - SAMD9(NM_017654.3):c.3192T>G (p.(Asn1064Lys)) - SAMD9_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3199G>C r.(?) p.(Val1067Leu) Unknown - likely benign g.92732212C>G g.93102899C>G SAMD9(NM_001193307.1):c.3199G>C (p.(Val1067Leu)) - SAMD9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3215T>C r.(?) p.(Leu1072Pro) Unknown - VUS g.92732196A>G g.93102883A>G SAMD9(NM_017654.3):c.3215T>C (p.L1072P), SAMD9(NM_017654.4):c.3215T>C (p.(Leu1072Pro)) - SAMD9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3215T>C r.(?) p.(Leu1072Pro) Unknown - likely benign g.92732196A>G - SAMD9(NM_017654.3):c.3215T>C (p.L1072P), SAMD9(NM_017654.4):c.3215T>C (p.(Leu1072Pro)) - SAMD9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3307C>G r.(?) p.(Leu1103Val) Unknown - VUS g.92732104G>C - SAMD9(NM_017654.3):c.3307C>G (p.L1103V) - SAMD9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3403A>G r.(?) p.(Ile1135Val) Unknown - likely benign g.92732008T>C - SAMD9(NM_017654.4):c.3403A>G (p.I1135V) - SAMD9_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3651dup r.(?) p.(Asp1218*) Unknown - likely benign g.92731766dup - SAMD9(NM_001193307.1):c.3651dup (p.(Asp1218*)), SAMD9(NM_017654.4):c.3651dupT (p.D1218*) - SAMD9_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3651dup r.(?) p.(Asp1218*) Unknown - likely benign g.92731766dup - SAMD9(NM_001193307.1):c.3651dup (p.(Asp1218*)), SAMD9(NM_017654.4):c.3651dupT (p.D1218*) - SAMD9_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3713T>G r.(?) p.(Ile1238Ser) Unknown - likely benign g.92731698A>C - SAMD9(NM_017654.3):c.3713T>G (p.(Ile1238Ser)) - SAMD9_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3728_3731del r.(?) p.(Asn1243Metfs*5) Unknown - VUS g.92731683_92731686del - SAMD9(NM_017654.3):c.3728_3731delACAA (p.(Asn1243fs)) - SAMD9_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3743T>G r.(?) p.(Leu1248*) Unknown - VUS g.92731668A>C - SAMD9(NM_017654.4):c.3743T>G (p.(Leu1248Ter)) - SAMD9_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3764C>T r.(?) p.(Pro1255Leu) Unknown - likely benign g.92731647G>A - SAMD9(NM_017654.3):c.3764C>T (p.(Pro1255Leu)) - SAMD9_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3805del r.(?) p.(Asp1269IlefsTer10) Unknown - VUS g.92731606del g.93102293del SAMD9(NM_017654.3):c.3805delG (p.D1269Ifs*10) - SAMD9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3812T>C r.(?) p.(Phe1271Ser) Unknown - benign g.92731599A>G - SAMD9(NM_017654.4):c.3812T>C (p.(Phe1271Ser)) - SAMD9_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3825T>C r.(?) p.(Phe1275=) Unknown - likely benign g.92731586A>G g.93102273A>G SAMD9(NM_001193307.1):c.3825T>C (p.(Phe1275=)), SAMD9(NM_017654.4):c.3825T>C (p.F1275=) - SAMD9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3825T>C r.(?) p.(Phe1275=) Unknown - benign g.92731586A>G - SAMD9(NM_001193307.1):c.3825T>C (p.(Phe1275=)), SAMD9(NM_017654.4):c.3825T>C (p.F1275=) - SAMD9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3846C>A r.(?) p.(Asn1282Lys) Unknown - likely pathogenic g.92731565G>T - SAMD9(NM_017654.4):c.3846C>A (p.(Asn1282Lys)) - SAMD9_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3886G>A r.(?) p.(Val1296Met) Unknown - likely benign g.92731525C>T - SAMD9(NM_017654.3):c.3886G>A (p.(Val1296Met)) - SAMD9_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3937T>C r.(?) p.(Ser1313Pro) Unknown - VUS g.92731474A>G - SAMD9(NM_017654.4):c.3937T>C (p.(Ser1313Pro)) - SAMD9_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4001G>T r.(?) p.(Arg1334Ile) Unknown - likely benign g.92731410C>A g.93102097C>A SAMD9(NM_017654.3):c.4001G>T (p.R1334I) - SAMD9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4010T>C r.(?) p.(Val1337Ala) Unknown - likely benign g.92731401A>G - SAMD9(NM_017654.3):c.4010T>C (p.(Val1337Ala)) - SAMD9_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4067A>G r.(?) p.(Glu1356Gly) Unknown - likely benign g.92731344T>C - SAMD9(NM_001193307.1):c.4067A>G (p.(Glu1356Gly)), SAMD9(NM_017654.4):c.4067A>G (p.E1356G) - SAMD9_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4067A>G r.(?) p.(Glu1356Gly) Unknown - likely benign g.92731344T>C - SAMD9(NM_001193307.1):c.4067A>G (p.(Glu1356Gly)), SAMD9(NM_017654.4):c.4067A>G (p.E1356G) - SAMD9_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4102G>A r.(?) p.(Glu1368Lys) Unknown - likely benign g.92731309C>T g.93101996C>T SAMD9(NM_017654.3):c.4102G>A (p.E1368K), SAMD9(NM_017654.4):c.4102G>A (p.E1368K) - SAMD9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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