Unique variants in gene MAMLD1

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

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-420A>G - - p.(=) g.149613363A>G - - - MAMLD1_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-290C>T - - p.(=) g.149613493C>T - - - MAMLD1_000008 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-166T>C - - p.(=) g.149613617T>C - - - MAMLD1_000009 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.18T>C likely benign r.(?) p.(=) g.149613800T>C - MAMLD1(NM_005491.4):c.18T>C (p.S6=) - MAMLD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.97-190T>C - - p.(=) g.149630848T>C - - - MAMLD1_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.111G>A likely benign r.(?) p.(=) g.149631052G>A - MAMLD1(NM_005491.4):c.111G>A (p.S37=) - MAMLD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.172-60_172-59del - - p.(=) g.149637957_149637958del - - - MAMLD1_000004 - - - - Germline - - - - - Yu Sun
?/. 1 2 c.207C>T - r.(?) G69G g.149638052C>T - G69G - MAMLD1_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.209A>G VUS r.(?) p.(Gln70Arg) g.149638054A>G g.150469782A>G - 46,XY MAMLD1_000037 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.257C>T VUS r.(?) p.(Pro86Leu) g.149638102C>T - MAMLD1(NM_005491.4):c.257C>T (p.P86L) - MAMLD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.361G>A likely benign r.(?) p.(Ala121Thr) g.149638206G>A - MAMLD1(NM_001177465.1):c.286G>A (p.(Ala96Thr)), MAMLD1(NM_005491.4):c.361G>A (p.A121T) - MAMLD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.367G>A VUS r.(?) p.(Gly123Arg) g.149638212G>A - MAMLD1(NM_005491.4):c.367G>A (p.G123R) - MAMLD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.382T>A likely benign r.(?) p.(Ser128Thr) g.149638227T>A - MAMLD1(NM_005491.4):c.382T>A (p.S128T) - MAMLD1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.447G>T likely benign r.(?) p.(Gln149His) g.149638292G>T - MAMLD1(NM_005491.4):c.447G>T (p.Q149H) - MAMLD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.509C>T likely benign r.(?) p.(Pro170Leu) g.149638354C>T - MAMLD1(NM_001177465.1):c.434C>T (p.(Pro145Leu)) - MAMLD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.546G>C VUS r.(?) p.(Glu182Asp) g.149638391G>C - MAMLD1(NM_005491.4):c.546G>C (p.E182D) - MAMLD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.605C>T benign, likely benign r.(?) p.(Thr202Met) g.149638450C>T - MAMLD1(NM_001177465.1):c.530C>T (p.(Thr177Met)), MAMLD1(NM_005491.4):c.605C>T (p.T202M) - MAMLD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+?/. 1 - c.671C>A likely pathogenic r.(?) p.(Ser224*) g.149638516C>A - - - MAMLD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 6 c.856C>T - r.(?) P286S g.149638701C>T - P286S - MAMLD1_000034 recurrent, found 17 times; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 17/208 cases - - - Lucy Raymond
-?/. 1 - c.858G>T likely benign r.(?) p.(Gln286His) g.149638703G>T - MAMLD1(NM_001177465.1):c.783G>T (p.(Gln261His)) - MAMLD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.859G>A likely benign r.(?) p.(Ala287Thr) g.149638704G>A - MAMLD1(NM_005491.4):c.859G>A (p.A287T) - MAMLD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.895C>G likely benign r.(?) p.(Pro299Ala) g.149638740C>G - MAMLD1(NM_001177465.1):c.820C>G (p.(Pro274Ala)) - MAMLD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.909C>T likely benign r.(?) p.(=) g.149638754C>T - MAMLD1(NM_005491.4):c.909C>T (p.H303=) - MAMLD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.912C>A likely benign r.(?) p.(=) g.149638757C>A - MAMLD1(NM_005491.4):c.912C>A (p.A304=) - MAMLD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.926C>T likely benign r.(?) p.(Ala309Val) g.149638771C>T - MAMLD1(NM_005491.4):c.926C>T (p.A309V) - MAMLD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.966A>C VUS r.(?) p.(Gln322His) g.149638811A>C - MAMLD1(NM_001177465.1):c.891A>C (p.(Gln297His)) - MAMLD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1038A>T likely benign r.(?) p.(=) g.149638883A>T - MAMLD1(NM_005491.4):c.1038A>T (p.P346=) - MAMLD1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 - c.1141C>T pathogenic r.(?) p.(Arg381*) g.149638986C>T g.150470714C>T NM_001177466:c.C1066T 46,XY MAMLD1_000038 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1291C>T benign r.(?) p.(Leu431Phe) g.149639136C>T - MAMLD1(NM_005491.4):c.1291C>T (p.L431F) - MAMLD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1336G>A likely benign r.(?) p.(Ala446Thr) g.149639181G>A - MAMLD1(NM_005491.4):c.1336G>A (p.A446T) - MAMLD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 6 c.1480C>T - r.(?) P494S g.149639325C>T - P494S - MAMLD1_000035 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 1 - c.1503_1505del benign r.(?) p.(Gln502del) g.149639348_149639350del - MAMLD1(NM_005491.4):c.1503_1505delGCA (p.Q502del) - MAMLD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1503_1505dup benign r.(?) p.(Gln502dup) g.149639348_149639350dup - MAMLD1(NM_005491.4):c.1503_1505dupGCA (p.Q502dup) - MAMLD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1507G>T likely benign r.(?) p.(Ala503Ser) g.149639352G>T - MAMLD1(NM_001177465.1):c.1432G>T (p.(Ala478Ser)) - MAMLD1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 6 c.1547C>T - r.(?) T516M g.149639392C>T - T516M - MAMLD1_000036 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/. 1 - c.1570C>T pathogenic r.(?) p.(Gln524*) g.149639415C>T g.150471143C>T - 46,XY MAMLD1_000039 - PubMed: Eggers 2016 - - De novo - - - - - Johan den Dunnen
?/., -?/. 2 - c.1699C>T VUS, likely benign r.(?) p.(Pro567Ser) g.149639544C>T g.150471272C>T MAMLD1(NM_005491.4):c.1699C>T (p.P567S) 46,XY MAMLD1_000040 VKGL data sharing initiative Nederland PubMed: Eggers 2016 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
-?/. 1 - c.1804C>A likely benign r.(?) p.(Gln602Lys) g.149639649C>A - MAMLD1(NM_005491.4):c.1804C>A (p.Q602K) - MAMLD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1806_1814dup VUS r.(?) p.(Gln604_Gln606dup) g.149639651_149639659dup - MAMLD1(NM_001177465.1):c.1722_1723insCAGCAGCAA (p.(Gln579_Gln581dup)) - MAMLD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1918-150A>G - - p.(=) g.149641802A>G - - - MAMLD1_000005 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2149G>A likely benign r.(?) p.(Gly717Ser) g.149671652G>A - MAMLD1(NM_005491.4):c.2149G>A (p.G717S) - MAMLD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2220C>A likely benign r.(?) p.(=) g.149671723C>A - MAMLD1(NM_005491.4):c.2220C>A (p.G740=) - MAMLD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2275G>A likely benign r.(?) p.(Asp759Asn) g.149671778G>A - MAMLD1(NM_005491.4):c.2275G>A (p.D759N) - MAMLD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*78G>A likely benign r.(=) p.(=) g.149680307G>A - MAMLD1(NM_001177465.3):c.1961G>A (p.R654Q) - MAMLD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*126C>T likely benign r.(=) p.(=) g.149680355C>T - MAMLD1(NM_001177465.1):c.2009C>T (p.(Thr670Ile)) - MAMLD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*178C>A likely benign r.(=) p.(=) g.149680407C>A - MAMLD1(NM_001177465.1):c.2061C>A (p.(His687Gln)) - MAMLD1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*325C>T benign r.(=) p.(=) g.149680554C>T - MAMLD1(NM_001177465.2):c.2208C>T (p.S736=) - MAMLD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*450A>G likely benign r.(=) p.(=) g.149680679A>G - MAMLD1(NM_001177465.1):c.2333A>G (p.(Asn778Ser)) - MAMLD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*468C>T VUS r.(=) p.(=) g.149680697C>T - MAMLD1(NM_001177465.1):c.2351C>T (p.(Ala784Val)) - MAMLD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*572C>T likely benign r.(=) p.(=) g.149680801C>T - MAMLD1(NM_001177465.3):c.2455C>T (p.P819S) - MAMLD1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.*603C>T VUS, likely benign r.(?), r.(=) p.(=) g.149680832C>T g.150512562C>T MAMLD1(NM_001177465.1):c.2486C>T (p.(Ala829Val)) 46,XY MAMLD1_000027 VKGL data sharing initiative Nederland PubMed: Eggers 2016 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
?/. 1 - c.*614C>A VUS r.(=) p.(=) g.149680843C>A - MAMLD1(NM_001177465.1):c.2497C>A (p.(Gln833Lys)) - MAMLD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*847G>A likely benign r.(=) p.(=) g.149681076G>A - MAMLD1(NM_001177465.3):c.2730G>A (p.P910=) - MAMLD1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*858C>T likely benign r.(=) p.(=) g.149681087C>T - MAMLD1(NM_001177465.3):c.2741C>T (p.T914M) - MAMLD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*861A>C likely benign r.(=) p.(=) g.149681090A>C - MAMLD1(NM_001177465.1):c.2744A>C (p.(Asp915Ala)) - MAMLD1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*889C>T likely benign r.(=) p.(=) g.149681118C>T - MAMLD1(NM_001177465.3):c.2772C>T (p.D924=) - MAMLD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*971T>G likely benign r.(=) p.(=) g.149681200T>G - MAMLD1(NM_001177465.3):c.2854T>G (p.L952V) - MAMLD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*1092C>T VUS r.(?) p.(=) g.149681321C>T g.150513051C>T NM_001177465:c.C2975T (T992I) 46,XY MAMLD1_000041 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
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