Full data view for gene SMCHD1

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_015295.2 transcript reference sequence.

678 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.-2005259_*1579del - r.? p.? Unknown - pathogenic g.650816_2804129del - - - SMCHD1_000093 mosaicism, hemizygous in 0.44 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-12C>T - r.(?) p.(=) Unknown - likely benign g.2656063C>T g.2656064C>T SMCHD1(NM_015295.3):c.-12C>T - SMCHD1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.0 - r.0 p.0 Unknown - pathogenic (!) g.(?_2666158)_(2805015_?)del - 2,5 Mb deletion SMCHD1 - SMCHD1_000076 2,5 Mb deletion SMCHD1 PubMed: Lemmers 2019 - - Germline - - - - 14%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - F - United States - - - - - 1 Richard Lemmers
+/. - c.? - r.? p.? Unknown - pathogenic (!) g.? - - - SMCHD1_000000 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available M - Japan - - - - - 1 Johan den Dunnen
+/. - c.? - r.? p.? Unknown - pathogenic (!) g.? - - - SMCHD1_000000 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - Japan - - - - - 1 Johan den Dunnen
+/. _1_48_ c.0 4qA[12] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (16%), permissive 4qA[12] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(16%), 4qA[12] F - United States - - - - - 5 Richard Lemmers
+/. _1_48_ c.0 4qA[35] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (12%), permissive 4qA[35] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - Healthy/Control - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[35] F - United States - - - - - 1 Richard Lemmers
+/. _1_48_ c.0 4qA[11] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (13%), permissive 4qA[11] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[11] M - United States - - - - - 1 Richard Lemmers
+/+ _1_48_ c.0 4qA[11] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (12%), permissive 4qA[11] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[11] M - United States - - - - - 1 Richard Lemmers
+/. _1_48_ c.0 4qA[11] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (16%), permissive 4qA[11] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(16%), 4qA[11] M - United States - - - - - 1 Richard Lemmers
+/. _1_48_ c.0 4qA[13] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (14%), permissive 4qA[13] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(14%), 4qA[13] M - United States - - - - - 2 Richard Lemmers
+/. _1_48_ c.0 4qA[13] r.0 p.0 Parent #1 - pathogenic (!) g.(?_2656075)_(2802551_?)del - deletion SMCHD1 - SMCHD1_000076 hypomethylation D4Z4 (20%), permissive 4qA[13] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(20%), 4qA[13] F - United States - - - - - 1 Richard Lemmers
?/. 1 c.2T>G - r.(?) p.0? Parent #1 - VUS g.2656076T>G g.2656077T>G - - SMCHD1_000140 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.4G>C - r.(?) p.(Ala2Pro) Unknown - benign g.2656078G>C g.2656079G>C - - SMCHD1_000250 - PubMed: Lemmers 2019 - - Germline - - - - 18%, FseI site (Southern blot), permissive 4qA (6U) allele DNA PCRdig, PFGE, SEQ, Southern - - Healthy/Control - PubMed: Lemmers 2019 - M - Netherlands - - - - - 1 Richard Lemmers
?/. - c.4G>C - r.(?) p.(Ala2Pro) Unknown - VUS g.2656078G>C g.2656079G>C - - SMCHD1_000250 - PubMed: Lemmers 2019 - - Germline - - - - 24%, FseI site (Southern blot), permissive 4qA (16U) allele DNA PCRdig, PFGE, SEQ, Southern - - Healthy/Control - PubMed: Lemmers 2019 - F - Netherlands - - - - - 1 Richard Lemmers
+/. 1 c.24del 4qA[40] r.(?) p.(Pro9Leufs*100) Parent #1 - pathogenic (!) g.2656098del g.2656099del - - SMCHD1_000019 hypomethylation D4Z4 (13%), permissive 4qA[40] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA, RNA RT-PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[40] F no France - - - - - 1 Richard Lemmers
+/. 1 c.24del 4qA[68] r.(?) p.(Pro9Leufs*100) Parent #1 - pathogenic (!) g.2656098del g.2656099del - - SMCHD1_000019 hypomethylation D4Z4 (13%), permissive 4qA[68] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA PCR, SEQ - - Healthy/Control - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[68] F no France - - - - - 1 Richard Lemmers
+/. 1 c.24del 4qA[40] r.(?) p.(Pro9Leufs*100) Parent #1 - pathogenic (!) g.2656098del g.2656099del - - SMCHD1_000019 hypomethylation D4Z4 (15%), permissive 4qA[40] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(15%), 4qA[40] F no France - - - - - 1 Richard Lemmers
+/. 1 c.24del 4qA[36] r.(?) p.(Pro9Leufs*100) Parent #1 - pathogenic (!) g.2656098del g.2656099del - - SMCHD1_000019 hypomethylation D4Z4 (27%), permissive 4qA[36] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(27%), 4qA[36] M no France - - - - - 1 Richard Lemmers
?/. 1 c.37T>G - r.(?) p.(Ser13Ala) Parent #1 - VUS g.2656111T>G g.2656112T>G - - SMCHD1_000141 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.40G>A - r.(?) p.(Val14Met) Parent #1 - VUS g.2656114G>A g.2656115G>A - - SMCHD1_000142 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.55G>C - r.(?) p.(Asp19His) Parent #1 - VUS g.2656129G>C g.2656130G>C - - SMCHD1_000143 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.63A>G - r.(?) p.(=) Parent #1 - VUS g.2656137A>G g.2656138A>G - - SMCHD1_000144 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.101G>C - r.(?) p.(Arg34Pro) Unknown - pathogenic (!) g.2656175G>C g.2656176G>C - - SMCHD1_000251 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 11%, FseI site (Southern blot), permissive 4qA (19U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - United States - - - - - 1 Richard Lemmers
-/. - c.116A>C - r.(?) p.(Glu39Ala) Unknown - benign g.2656190A>C g.2656191A>C - - SMCHD1_000252 no hypomethylation (D4Z4) PubMed: Lemmers 2019 - rs990903424 Germline - - - - 53%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - Healthy/Control - PubMed: Lemmers 2019 - - - Netherlands - - - - - 1 Richard Lemmers
+/. 1 c.120del - r.(?) p.(Asp42Thrfs*67) Parent #1 - pathogenic (!) g.2656194del g.2656195del 120delC - SMCHD1_000145 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.121G>A - r.(?) p.(Gly41Arg) Parent #1 - VUS g.2656195G>A g.2656196G>A - - SMCHD1_000146 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.130C>A - r.(?) p.(Pro44Thr) Parent #1 - VUS g.2656204C>A g.2656205C>A - - SMCHD1_000147 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.142G>C - r.(?) p.(Gly48Arg) Unknown - VUS g.2656216G>C - SMCHD1(NM_015295.2):c.142G>C (p.(Gly48Arg)) - SMCHD1_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.150C>G - r.(?) p.(=) Parent #1 - VUS g.2656224C>G g.2656225C>G - - SMCHD1_000148 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.159C>T - r.(?) p.(Tyr53Tyr) Unknown - benign g.2656233C>T g.2656234C>T - - SMCHD1_000253 no hypomethylation (D4Z4) PubMed: Lemmers 2019 - rs1206890396 Germline - - - - 70%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - Healthy/Control - PubMed: Lemmers 2019 - M - Netherlands - - - - - 1 Richard Lemmers
+/. - c.173_174insCT - r.(?) p.(Gln62Valfs*48) Unknown - pathogenic (!) g.2656247_2656248insCT g.2656248_2656249insCT - - SMCHD1_000254 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 19%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - F - Canada - - - - - 1 Richard Lemmers
-/. - c.174G>C - r.(?) p.(Ala58=) Unknown - benign g.2656248G>C g.2656249G>C SMCHD1(NM_015295.3):c.174G>C (p.A58=) - SMCHD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176G>T - r.(?) p.(Cys59Phe) Parent #1 - VUS g.2656250G>T g.2656251G>T - - SMCHD1_000255 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 11%, FseI site (Southern blot), permissive 4qA (14U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - United States - - - - - 1 Richard Lemmers
+/. - c.182_183del - r.(?) p.(Cys61Serfs*8) Unknown - pathogenic (!) g.2656256_2656257del g.2656257_2656258del 182_183delGT - SMCHD1_000256 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 10%, FseI site (Southern blot), permissive 4qA (54U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - F - United States - - - - - 1 Richard Lemmers
+/. - c.182_183del - r.(?) p.(Cys61Serfs*8) Parent #1 - likely pathogenic g.2656256_2656257del g.2656257_2656258del 182_183delGT - SMCHD1_000256 no FSHD1 or FSHD2 variants identified PubMed: Bruels 2022 - - Germline/De novo (untested) - - - - decreased D4Z4 methylation DNA SEQ - - FSHD 1443-1 PubMed: Bruels 2022 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.182_183dup - r.(?) p.(Gln62Valfs*48) Unknown - pathogenic (!) g.2656256_2656257dup g.2656257_2656258dup - - SMCHD1_000257 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 14%, FseI site (Southern blot), permissive 4qA (11U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - France - - - - - 1 Richard Lemmers
+/. - c.182_183dup - r.(?) p.(Gln62Valfs*48) Unknown - pathogenic (!) g.2656256_2656257dup g.2656257_2656258dup - - SMCHD1_000257 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 12%, FseI site (Southern blot), permissive 4qA (11U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - F - France - - - - - 1 Richard Lemmers
+/. - c.182_183dup - r.(?) p.(Gln62Valfs*48) Unknown - pathogenic (!) g.2656256_2656257dup g.2656257_2656258dup - - SMCHD1_000257 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 9%, FseI site (Southern blot), permissive 4qA (11U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - F - France - - - - - 1 Richard Lemmers
+/. - c.182_183dup - r.(?) p.(Gln62Valfs*48) Unknown - pathogenic (!) g.2656256_2656257dup g.2656257_2656258dup - - SMCHD1_000257 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 17%, FseI site (Southern blot), permissive 4qA (11U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - France - - - - - 1 Richard Lemmers
+/. - c.182_183dup - r.(?) p.(Gln62Valfs*48) Unknown - pathogenic (!) g.2656256_2656257dup g.2656257_2656258dup - - SMCHD1_000257 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 15%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - Italy - - - - - 1 Richard Lemmers
+?/. 1 c.182_183dup - r.(?) p.(Gln62Valfs*48) Unknown - likely pathogenic (!) g.2656256_2656257dup g.2656257_2656258dup 182_183dupGT - SMCHD1_000375 - PubMed: Strafella 2019 - - Germline yes - - - 4qA (10U) allele DNA SEQ-NG-IT blood - FSHD PatI PubMed: Strafella 2019, Journal: Strafella 2019 - M no Italy - - - - - 1 Emiliano Giardina
+/. - c.186+1G>A - r.spl p.? Unknown - pathogenic (!) g.2656261G>A g.2656262G>A - - SMCHD1_000258 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 14%, FseI site (Southern blot), permissive 4qA (22U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - Canada - - - - - 1 Richard Lemmers
+/. - c.186+1G>A - r.spl p.? Unknown - pathogenic (!) g.2656261G>A g.2656262G>A - - SMCHD1_000258 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 10%, FseI site (Southern blot), permissive 4qA (21U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - Canada - - - - - 1 Richard Lemmers
+/. - c.186+1G>A - r.spl p.? Unknown - pathogenic (!) g.2656261G>A g.2656262G>A - - SMCHD1_000258 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 9%, FseI site (Southern blot), permissive 4qA (13U) allele DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - Canada - - - - - 1 Richard Lemmers
+?/. 1i c.187-6G>A 4qA[13] r.(=) p.(=) Unknown - likely pathogenic (!) g.2666150G>A g.2666151G>A - - SMCHD1_000083 hypomethylation D4Z4: 21%; D4Z4 13units; D4Z4 4qA allele PubMed: Hamanaka, 2016 - - Unknown yes - - - hypomethylation DNA SEQ - - - - PubMed: Hamanaka, 2016 BSS_DR1(21%), 4qA[13] M - Japan - - - - - 1 Kohei Hamanaka
+?/. 1i c.187-6G>A 4qA[14] r.186_187insTAGA p.(=) Unknown - likely pathogenic (!) g.2666150G>A g.2666151G>A - - SMCHD1_000083 - PubMed: Hamanaka, 2016 - - Unknown yes - - - - DNA SEQ - - - - PubMed: Hamanaka, 2016 BSS_DR1(10%), 4qA[14] M - Japan - - - - - 1 Kohei Hamanaka
?/. - c.200C>T - r.(?) p.(Ser67Leu) Unknown - VUS g.2666169C>T - SMCHD1(NM_015295.3):c.200C>T (p.S67L) - SMCHD1_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.202_211del - r.(?) p.(Pro68AsnfsTer38) Unknown - pathogenic (!) g.2666171_2666180del g.2666172_2666181del 201_210delACCTGAAGAA - SMCHD1_000259 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 6%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - M - United Kingdom (Great Britain) - - - - - 1 Richard Lemmers
+?/. - c.202_211del - r.(?) p.(Pro68Asnfs*38) Unknown - likely pathogenic g.2666171_2666180del g.2666172_2666181del - - SMCHD1_000259 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.230_232del - r.(?) p.(Thr77del) Unknown - pathogenic g.2666199_2666201del - - - SMCHD1_000398 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230_232del 4qA>121RU 4qA-54+6RU Cis-dup r.(?) p.(Thr77del) Unknown ACMG VUS g.2666199_2666201del g.2666200_2666202del - - SMCHD1_000398 ACMG PM2 Journal: Magdinier 2024 - - Unknown - - - - Normal level methylation at DR1 site, Bisulfite Sequencing: 52% DNA SEQ-NG-IT - gene panel FSHD - Journal: Magdinier 2024 - M - France - - - - - 1 Charlotte Tardy
+?/. - c.230_232del - r.(?) p.(Thr77del) Unknown - likely pathogenic g.2666199_2666201del - - - SMCHD1_000398 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.244A>G - r.(?) p.(Ile82Val) Parent #1 - VUS g.2666213A>G g.2666214A>G - - SMCHD1_000149 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.244A>G - r.(?) p.(Ile82Val) Parent #1 - VUS g.2666213A>G g.2666214A>G - - SMCHD1_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.262+25G>C - r.(?) p.(=) Unknown - benign g.2666256G>C g.2666257G>C - - SMCHD1_000260 no hypomethylation (D4Z4) PubMed: Lemmers 2019 - rs634246 Germline - - - - 43%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - Healthy/Control - PubMed: Lemmers 2019 - F - Netherlands - - - - - 1 Richard Lemmers
-/. - c.262+48T>C - r.(?) p.(=) Unknown - benign g.2666279T>C g.2666280T>C - - SMCHD1_000261 no hypomethylation (D4Z4) PubMed: Lemmers 2019 - rs531379 Germline - - - - 43%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - Healthy/Control - PubMed: Lemmers 2019 - F - Netherlands - - - - - 1 Richard Lemmers
+/. _2i_12i_ c.(?_263-1)_(1647+1_?)del - r.? p.? Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - - Chinese;Vietnamese - - - - 1 Johan den Dunnen
+/. _2i_12i_ c.(?_263-1)_(1647+1_?)del - r.? p.? Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 no variants in TCOF1, POLR1D, POLR1C; negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 2 affecteds, parents not available (parents 2nd cousins), PatH1 M yes Morocco - - - - - 2 Johan den Dunnen
+/. _2i_12i_ c.(?_263-1)_(1647+1_?)del - r.? p.? Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 no variants in TCOF1, POLR1D, POLR1C; negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 sister PatH2 F yes Morocco - - - - - 1 Johan den Dunnen
+/. _2i_12i_ c.(?_263-1)_(1647+1_?)del - r.? p.? Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 negative by WES and Sanger seq of exons 3-12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available M - - Middle Eastern - - - - 1 Johan den Dunnen
+/. _2i_12i_ c.(?_263-1)_(1647+1_?)del - r.? p.? Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available, assumed inherited (4 relatives with nasal hypoplasia) M - Belgium - - - - - 1 Johan den Dunnen
?/. 3 c.263A>G - r.(?) p.(Asp88Gly) Parent #1 - VUS g.2666869A>G g.2666870A>G - - SMCHD1_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.263A>G - r.spl? p.(Asp88Gly) Parent #1 - VUS g.2666869A>G g.2666870A>G - - SMCHD1_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.263A>G - r.(?) p.(Asp88Gly) Parent #1 - VUS g.2666869A>G g.2666870A>G - - SMCHD1_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.263A>G - r.(?) p.(Asp88Gly) Unknown - pathogenic (!) g.2666869A>G g.2666870A>G - - SMCHD1_000150 hypomethylation (D4Z4) PubMed: Lemmers 2019 - rs200521548 Germline - - - - 17%, FseI site (Southern blot) DNA PCRdig, PFGE, SEQ, Southern - - FSHD - PubMed: Lemmers 2019 - F - United Kingdom (Great Britain) - - - - - 1 Richard Lemmers
-?/. - c.263A>G - r.(?) p.(Asp88Gly) Unknown - likely benign g.2666869A>G - SMCHD1(NM_015295.2):c.263A>G (p.(Asp88Gly)) - SMCHD1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>A - r.(?) p.(Gly94Glu) Unknown - VUS g.2666887G>A - - - SMCHD1_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.311A>G - r.(?) p.(Asn104Ser) Unknown - VUS g.2666917A>G g.2666918A>G - - SMCHD1_000079 - Smith, poster ASHG2014 - - Unknown ? - - - - DNA SEQ - - FSHD2 - Smith, poster ASHG2014 BSS_DR1(37%) - - United Kingdom (Great Britain) - - - - - 1 Richard Lemmers
+/. 3 c.320T>C - r.(?) p.(Leu107Pro) Unknown - pathogenic (!) g.2666926T>C g.2666927T>C - - SMCHD1_000108 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - Taiwan - - - - - 1 Johan den Dunnen
?/. 3 c.321A>G - r.(?) p.(=) Parent #1 - VUS g.2666927A>G g.2666928A>G - - SMCHD1_000151 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 3 c.328G>A - r.(?) p.(Ala110Thr) Unknown - likely pathogenic (!) g.2666934G>A g.2666935G>A - - SMCHD1_000061 hypomethylation D4Z4 (13%) PubMed: Larsen2014 - - Unknown ? - - - hypomethylation DNA SEQ-NG - - FSHD2 - PubMed: Larsen2014 - F no Germany - - - - - 1 Mirjam Larsen
+?/. - c.332C>T - r.(?) p.(Thr111Met) Unknown ACMG likely pathogenic (dominant) g.2666938C>T - - - SMCHD1_000382 PM1, PM2, PP3, PP4 - - - Unknown - - - - - DNA SEQ-NG-IT - - FSHD2 - - - - - France - - - - - 1 Svetlana Gorokhova
+?/. - c.382G>T 4qA-26RU 4qA-29RU r.(?) p.(Gly128Cys) Unknown ACMG likely pathogenic g.2666988G>T g.2666989G>T - - SMCHD1_000409 ACMG PM1, PM2, PP4, PP3 Journal: Magdinier 2024 - - Unknown - - - - Hypomethylated at DR1 site, Bisulfite Sequencing: 13.7% DNA SEQ-NG-IT - gene panel FSHD2 - Journal: Magdinier 2024 - M - France - - - - - 1 Charlotte Tardy
+/. 3 c.386T>A - r.(?) p.(Met129Lys) Unknown - pathogenic (!) g.2666992T>A g.2666993T>A - - SMCHD1_000106 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available, 3 sisters negative M - United Kingdom (Great Britain) Scottish;Irish - - - - 1 Johan den Dunnen
+/. - c.386T>G - r.(?) p.(Met129Arg) Unknown - pathogenic (!) g.2666992T>G g.2666993T>G - - SMCHD1_000262 hypomethylation (D4Z4) PubMed: Lemmers 2019 - - Germline - - - - 4%, FseI site (Southern blot), permissive 4qA (28U) allele DNA PCRdig, PFGE, SEQ, Southern - - BAMS - PubMed: Lemmers 2019 - F - United States - - - - - 1 Richard Lemmers
-/. - c.399T>C - r.(?) p.(Tyr133=) Unknown - benign g.2667005T>C g.2667006T>C SMCHD1(NM_015295.3):c.399T>C (p.Y133=) - SMCHD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.400G>T - r.(?) p.(Ala134Ser) Unknown - pathogenic (!) g.2667006G>T g.2667007G>T - - SMCHD1_000102 - PubMed: Gordon 2017, Journal: Gordon 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Gordon 2017, Journal: Gordon 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.400G>T - r.(?) p.(Ala134Ser) Unknown - pathogenic (!) g.2667006G>T g.2667007G>T - - SMCHD1_000102 - PubMed: Gordon 2017, Journal: Gordon 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Gordon 2017, Journal: Gordon 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.403A>T - r.(?) p.(Ser135Cys) Unknown - pathogenic (!) g.2667009A>T g.2667010A>T - - SMCHD1_000095 - PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - 1 Johan den Dunnen
+/. 3 c.403A>T - r.(?) p.(Ser135Cys) Unknown - pathogenic (!) g.2667009A>T g.2667010A>T - - SMCHD1_000095 - PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Ireland - - - - - 1 Johan den Dunnen
+/. 3 c.404G>A - r.(?) p.(Ser135Asn) Unknown - pathogenic (!) g.2667010G>A g.2667011G>A - - SMCHD1_000096 - PubMed: Gordon 2017, Journal: Gordon 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Gordon 2017, Journal: Gordon 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - Africa, north - - - - 1 Johan den Dunnen
+/. 3 c.404G>A - r.(?) p.(Ser135Asn) Unknown - pathogenic (!) g.2667010G>A g.2667011G>A - - SMCHD1_000096 - PubMed: Shaw 2017, Journal: Shaw 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - 1 Johan den Dunnen
+/. 3 c.404G>A - r.(?) p.(Ser135Asn) Unknown - pathogenic (!) g.2667010G>A g.2667011G>A - - SMCHD1_000096 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 2 affected sisters, parents not available; 1 of 6 other siblings has arhinia, high arched palate, microphthalmia, cataracts, ID F - Germany - - - - - 2 Johan den Dunnen
+/. 3 c.404G>T - r.(?) p.(Ser135Ile) Unknown - pathogenic (!) g.2667010G>T g.2667011G>T - - SMCHD1_000116 - PubMed: Shaw 2017, Journal: Shaw 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - 1 Johan den Dunnen
+/. 3 c.407A>G - r.(?) p.(Glu136Gly) Unknown - pathogenic (!) g.2667013A>G g.2667014A>G - - SMCHD1_000094 - PubMed: Gordon 2017, Journal: Gordon 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Gordon 2017, Journal: Gordon 2017 2-generation family, 1 affected, unaffected non-carrier parents M yes Morocco - - - - - 1 Johan den Dunnen
+/. 3 c.408A>C - r.(?) p.(Glu136Asp) Unknown - pathogenic (!) g.2667014A>C g.2667015A>C - - SMCHD1_000110 no variants in PAX6, CHD7, SOX2, OTX2, FOXE3, STRA6, RAX, VSX2 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available (father with muscular dystrophy) M - - white - - - - 1 Johan den Dunnen
+/. 3 c.410G>A 4qA[12] r.(?) p.(Gly137Glu) Parent #1 - pathogenic (!) g.2667016G>A g.2667017G>A - - SMCHD1_000020 hypomethylation D4Z4 (22%), permissive 4qA[12] allele PubMed: Lemmers 2015 - - Unknown ? - - - hypomethylation DNA PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(22%), 4qA[12] M no Germany - - - - - 1 Richard Lemmers
+/. 3 c.410G>A - r.(?) p.(Gly137Glu) Unknown - pathogenic (!) g.2667016G>A g.2667017G>A - - SMCHD1_000020 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available (maternal grandmother negative) F - United States African American - - - - 1 Johan den Dunnen
+/. 3 c.412C>T 4qA[12] r.(?) p.(Gln138*) Parent #1 - pathogenic (!) g.2667018C>T g.2667019C>T - - SMCHD1_000021 hypomethylation D4Z4 (7%), permissive 4qA[12] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(7%), 4qA[12] M no Canada - - - - - 1 Richard Lemmers
+/. 3 c.412C>T 4qA[12] r.(?) p.(Gln138*) Parent #1 - pathogenic (!) g.2667018C>T g.2667019C>T - - SMCHD1_000021 hypomethylation D4Z4 (12%), permissive 4qA[12] allele PubMed: Lemmers 2015 - - Germline yes - - - hypomethylation DNA PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[12] F no Canada - - - - - 1 Richard Lemmers
+/. 3 c.415A>C - r.(?) p.(Asn139His) Unknown - pathogenic (!) g.2667021A>C g.2667022A>C - - SMCHD1_000073 no variants in 12 gene panel for GnRH deficiency PubMed: Shaw 2017, Journal: Shaw 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - 1 Johan den Dunnen
+/. 3 c.415A>C - r.(?) p.(Asn139His) Unknown - pathogenic (!) g.2667021A>C g.2667022A>C - - SMCHD1_000073 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - - white - - - - 1 Johan den Dunnen
+/. 3 c.423G>C - r.(?) p.(Leu141Phe) Unknown - pathogenic (!) g.2667029G>C g.2667030G>C - - SMCHD1_000103 no variants in KAL1, FGFR1, PROK2, PROKR2, FGF8, GNRHR PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, mother not available/father negative M - - white - - - - 1 Johan den Dunnen
+/. 3 c.423G>C - r.(?) p.(Leu141Phe) Unknown - pathogenic (!) g.2667029G>C g.2667030G>C - - SMCHD1_000103 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, father not available/mother negative M - - Irish;Polish;Italian - - - - 1 Johan den Dunnen
+/. 3 c.423G>C - r.(?) p.(Leu141Phe) Unknown - pathogenic (!) g.2667029G>C g.2667030G>C - - SMCHD1_000103 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - United Kingdom (Great Britain) British - - - - 1 Johan den Dunnen
+/. 3 c.423G>T - r.(?) p.(Leu141Phe) Unknown - pathogenic (!) g.2667029G>T g.2667030G>T - - SMCHD1_000111 - PubMed: Shaw 2017, Journal: Shaw 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
+/. 3i c.424+1G>A 4qA[14] r.spl p.? Parent #1 - pathogenic (!) g.2667031G>A g.2667032G>A - - SMCHD1_000022 hypomethylation D4Z4 (5%), permissive 4qA[14] allele PubMed: Lemmers 2015 - - Unknown ? - - - hypomethylation DNA PCR, SEQ - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(5%), 4qA[14] F no Germany - - - - - 1 Richard Lemmers
+/. 3i c.424+1G>A - r.spl p.? Parent #1 - pathogenic (!) g.2667031G>A g.2667032G>A - - SMCHD1_000022 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3i c.424+10C>T - r.(?) p.(?) Parent #1 - VUS g.2667040C>T g.2667041C>T - - SMCHD1_000152 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
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