Unique variants in the SMARCD1 gene

Information The variants shown are described using the NM_003076.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

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     
-?/. 1 - c.-4744A>G r.(?) p.(=) - likely benign g.50474409A>G g.50080626A>G ASIC1(NM_020039.3):c.1334A>G (p.(His445Arg)) - ASIC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.13G>A r.(?) p.(Ala5Thr) - likely benign g.50479165G>A - SMARCD1(NM_003076.4):c.13G>A (p.(Ala5Thr)) - ASIC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.28G>C r.(?) p.(Val10Leu) - likely benign g.50479180G>C - SMARCD1(NM_003076.4):c.28G>C (p.(Val10Leu)) - ASIC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.89C>T r.(?) p.(Pro30Leu) - likely benign g.50479241C>T - SMARCD1(NM_003076.4):c.89C>T (p.(Pro30Leu)) - ASIC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.142C>G r.(?) p.(Leu48Val) - VUS g.50479294C>G - SMARCD1(NM_003076.4):c.142C>G (p.(Leu48Val)) - ASIC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.143dup r.(?) p.(Tyr49Valfs*82) - VUS g.50479295dup - SMARCD1(NM_003076.4):c.143dupT (p.(Tyr49fs)) - ASIC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.149G>T r.(?) p.(Arg50Leu) - likely benign g.50479301G>T - SMARCD1(NM_003076.4):c.149G>T (p.(Arg50Leu)) - ASIC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.408+9A>G r.(=) p.(=) - likely benign g.50480455A>G - SMARCD1(NM_003076.5):c.408+9A>G - ASIC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.771+3G>A r.spl? p.? - likely benign g.50482423G>A g.50088640G>A SMARCD1(NM_003076.4):c.771+3G>A (p.?) - SMARCD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.990C>G r.(?) p.(Asp330Glu) - pathogenic (dominant) g.50484140C>G g.50090357C>G - - SMARCD1_000003 father not available PubMed: Nixon 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1336A>G r.(?) p.(Arg446Gly) - pathogenic (dominant) g.50490699A>G g.50096916A>G - - SMARCD1_000004 - PubMed: Nixon 2019 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.1430G>A r.(?) p.(Arg477His) - VUS g.50492534G>A - SMARCD1(NM_003076.4):c.1430G>A (p.(Arg477His)) - SMARCD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1457G>A r.(?) p.(Trp486*) - pathogenic (dominant) g.50492561G>A g.50098778G>A - - SMARCD1_000005 - PubMed: Nixon 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.1483T>C r.(?) p.(Phe495Leu) - pathogenic (dominant) g.50492587T>C g.50098804T>C - - SMARCD1_000006 - PubMed: Nixon 2019 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.1485C>G r.(?) p.(Phe495Leu) - VUS g.50492589C>G g.50098806C>G SMARCD1(NM_003076.4):c.1485C>G (p.(Phe495Leu)) - SMARCD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1494+9A>G r.(=) p.(=) - likely benign g.50492607A>G - SMARCD1(NM_003076.5):c.1494+9A>G - SMARCD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1507C>T r.(?) p.(Arg503*) - pathogenic (dominant) g.50492742C>T g.50098959C>T - - SMARCD1_000007 - PubMed: Nixon 2019 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.*5034G>C r.(=) p.(=) - VUS g.50497817G>C - GPD1(NM_005276.4):c.-17G>C - SMARCD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5042C>T r.(=) p.(=) - VUS g.50497825C>T - GPD1(NM_005276.4):c.-9C>T - SMARCD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5043G>A r.(=) p.(=) - VUS g.50497826G>A - GPD1(NM_005276.4):c.-8G>A - SMARCD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5045G>A r.(=) p.(=) - likely benign g.50497828G>A - GPD1(NM_005276.4):c.-6G>A - SMARCD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.*5051A>G r.(=) p.(=) - likely benign, VUS g.50497834A>G g.50104051A>G GPD1(NM_001257199.1):c.1A>G (p.(Met1?)), GPD1(NM_005276.4):c.1A>G (p.M1?) - SMARCD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.*5086G>A r.(=) p.(=) - likely benign g.50497869G>A - GPD1(NM_005276.4):c.36G>A (p.G12=) - SMARCD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5087A>G r.(=) p.(=) - VUS g.50497870A>G - GPD1(NM_005276.4):c.37A>G (p.N13D) - SMARCD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5089C>T r.(=) p.(=) - likely benign g.50497872C>T - GPD1(NM_005276.4):c.39C>T (p.N13=) - SMARCD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5090T>C r.(=) p.(=) - VUS g.50497873T>C - GPD1(NM_005276.4):c.40T>C (p.W14R) - SMARCD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5108A>G r.(=) p.(=) - VUS g.50497891A>G - GPD1(NM_005276.4):c.41+17A>G - SMARCD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5336G>A r.(=) p.(=) - likely benign g.50498119G>A g.50104336G>A GPD1(NM_005276.4):c.42-238G>A - SMARCD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*5356T>G r.(=) p.(=) - benign g.50498139T>G g.50104356T>G GPD1(NM_005276.4):c.42-218T>G - SMARCD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5365C>A r.(=) p.(=) - likely benign g.50498148C>A - GPD1(NM_005276.4):c.42-209C>A - SMARCD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5570C>G r.(=) p.(=) - VUS g.50498353C>G - GPD1(NM_005276.4):c.42-4C>G - SMARCD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5580A>T r.(=) p.(=) - likely benign g.50498363A>T - GPD1(NM_005276.4):c.48A>T (p.S16=) - SMARCD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5586C>T r.(=) p.(=) - likely benign g.50498369C>T g.50104586C>T GPD1(NM_005276.4):c.54C>T (p.I18=) - SMARCD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5593_*5599del r.(=) p.(=) - VUS g.50498376_50498382del g.50104593_50104599del GPD1(NM_005276.4):c.61_67delATCGTGG (p.I21Vfs*14) - SMARCD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5621_*5622insCT r.(=) p.(=) - VUS g.50498404_50498405insCT g.50104621_50104622insCT GPD1(NM_001257199.1):c.89_90insCT (p.?) - SMARCD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*5622_*5623insTTTGTCTACCCAATAAAGCGTGTTTTTTC r.(=) p.(=) - VUS g.50498405_50498406insTTTGTCTACCCAATAAAGCGTGTTTTTTC g.50104622_50104623insTTTGTCTACCCAATAAAGCGTGTTTTTTC GPD1(NM_001257199.1):c.90_91insTTTGTCTACCCAATAAAGCGTGTTTTTTC (p.?) - SMARCD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.*5623C>T r.(=) p.(=) - likely pathogenic g.50498406C>T g.50104623C>T GPD1(NM_005276.4):c.91C>T (p.Q31*) - SMARCD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5629G>A r.(=) p.(=) - VUS g.50498412G>A - GPD1(NM_005276.4):c.97G>A (p.D33N) - SMARCD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5636G>A r.(=) p.(=) - VUS g.50498419G>A - GPD1(NM_005276.4):c.104G>A (p.R35Q) - COX14_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5637G>A r.(=) p.(=) - likely benign g.50498420G>A g.50104637G>A GPD1(NM_005276.4):c.105G>A (p.R35=) - COX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5666T>C r.(=) p.(=) - likely benign g.50498449T>C g.50104666T>C GPD1(NM_005276.4):c.134T>C (p.I45T) - COX14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5675A>T r.(=) p.(=) - VUS g.50498458A>T - GPD1(NM_005276.4):c.143A>T (p.K48I) - COX14_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5691C>A r.(=) p.(=) - likely benign g.50498474C>A g.50104691C>A GPD1(NM_005276.4):c.159C>A (p.I53=) - COX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5692A>G r.(=) p.(=) - likely benign g.50498475A>G g.50104692A>G GPD1(NM_005276.4):c.160A>G (p.I54V) - COX14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5699C>G r.(=) p.(=) - VUS g.50498482C>G g.50104699C>G GPD1(NM_005276.4):c.167C>G (p.T56R) - COX14_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5709G>A r.(=) p.(=) - likely benign g.50498492G>A - GPD1(NM_005276.4):c.177G>A (p.E59=) - COX14_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5737T>C r.(=) p.(=) - likely benign g.50498520T>C - GPD1(NM_005276.3):c.205T>C (p.L69=) - COX14_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5749G>A r.(=) p.(=) - VUS g.50498532G>A - GPD1(NM_005276.4):c.217G>A (p.V73M) - COX14_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*5771G>A r.(=) p.(=) - likely benign g.50498554G>A g.50104771G>A GPD1(NM_005276.4):c.219+20G>A - COX14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6023T>A r.(=) p.(=) - likely benign g.50498806T>A g.50105023T>A GPD1(NM_005276.4):c.219+272T>A - COX14_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*6182C>A r.(=) p.(=) - benign g.50498965C>A - GPD1(NM_005276.4):c.220-366C>A - COX14_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6233A>G r.(=) p.(=) - likely benign g.50499016A>G - GPD1(NM_005276.4):c.220-315A>G - COX14_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*6561A>C r.(=) p.(=) - VUS g.50499344A>C - GPD1(NM_005276.4):c.233A>C (p.D78A) - COX14_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.*6564T>G r.(=) p.(=) - VUS g.50499347T>G g.50105564T>G GPD1(NM_005276.3):c.236T>G (p.V79G), GPD1(NM_005276.4):c.236T>G (p.V79G) - COX14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.*6565_*6567del r.(=) p.(=) - VUS g.50499348_50499350del - GPD1(NM_005276.4):c.237_239delGGT (p.V80del) - COX14_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*6581G>C r.(=) p.(=) - VUS g.50499364G>C - GPD1(NM_005276.4):c.253G>C (p.D85H) - COX14_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6622C>T r.(=) p.(=) - likely benign g.50499405C>T g.50105622C>T GPD1(NM_005276.4):c.294C>T (p.I98=) - COX14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6643C>G r.(=) p.(=) - likely benign g.50499426C>G - GPD1(NM_005276.4):c.315C>G (p.L105=) - COX14_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6664C>T r.(=) p.(=) - likely benign g.50499447C>T g.50105664C>T GPD1(NM_005276.4):c.336C>T (p.N112=) - COX14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*6665G>A r.(=) p.(=) - VUS g.50499448G>A - GPD1(NM_005276.4):c.337G>A (p.A113T) - COX14_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6667C>T r.(=) p.(=) - likely benign g.50499450C>T - GPD1(NM_005276.4):c.339C>T (p.A113=) - COX14_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*6681T>C r.(=) p.(=) - VUS g.50499464T>C - GPD1(NM_005276.4):c.353T>C (p.L118P) - COX14_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*6684_*6686del r.(=) p.(=) - VUS g.50499467_50499469del - GPD1(NM_005276.4):c.356_358delTTA (p.I119del) - COX14_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*6707T>C r.(=) p.(=) - likely benign g.50499490T>C - GPD1(NM_005276.4):c.360+19T>C - COX14_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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