Full data view for gene ASAH1

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_004315.4 transcript reference sequence.

130 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_14_ c.(?_-197)_(*1118_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_17913925)_(17942507_?)del - chr8.hg19:g.17,909,063_17,964,559del - ASAH1_000002 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA arraySNP, PCRq, RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 2-generation family, affected child F no Italy - - - - - 1 Johan den Dunnen
+/. _1_14_ c.(?_-197)_(*1118_?)del r.0 p.0 Parent #1 - pathogenic g.(?_17913925)_(17942507_?)del - chr8.hg19:g.17,909,063_17,964,559del - ASAH1_000002 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA arraySNP, PCRq, RT-PCR, SEQ - - Healthy/Control - PubMed: Zhou 2012 2-generation family, unaffected father M no Italy - - - - - 1 Johan den Dunnen
-/. - c.-117T>A r.(?) p.(=) Unknown - benign g.17942427A>T g.18084918A>T ASAH1(NM_004315.6):c.-117T>A - ASAH1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22T>C r.(?) p.(=) Unknown - benign g.17942332A>G g.18084823A>G ASAH1(NM_004315.6):c.-22T>C - ASAH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.27G>C r.(?) p.(Glu9Asp) Unknown - VUS g.17942284C>G g.18084775C>G ASAH1(NM_004315.6):c.27G>C (p.E9D) - ASAH1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30A>G r.(?) p.(Lys10=) Unknown - likely benign g.17942281T>C g.18084772T>C ASAH1(NM_004315.5):c.30A>G (p.K10=) - ASAH1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.35G>C r.(?) p.(Arg12Pro) Unknown - VUS g.17942276C>G g.18084767C>G - - ASAH1_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147896487 Germline - 2/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_583:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
./. - c.35G>C r.(?) p.(Arg12Pro) Unknown - VUS g.17942276C>G g.18084767C>G - - ASAH1_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147896487 Germline - 2/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_654:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.35G>C r.(?) p.(Arg12Pro) Unknown - likely benign g.17942276C>G g.18084767C>G ASAH1(NM_004315.6):c.35G>C (p.R12P) - ASAH1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38G>A r.(?) p.(Gly13Glu) Unknown - likely benign g.17942273C>T - ASAH1(NM_004315.5):c.38G>A (p.G13E) - ASAH1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>A r.(?) p.(Glu28Lys) Unknown - likely benign g.17942229C>T g.18084720C>T ASAH1(NM_004315.6):c.82G>A (p.E28K) - ASAH1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101T>C r.(?) p.(Phe34Ser) Unknown - VUS g.17942210A>G g.18084701A>G ASAH1(NM_004315.6):c.101T>C (p.F34S) - ASAH1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.107G>A r.(?) p.(Ser36Asn) Unknown - benign g.17942204C>T g.18084695C>T ASAH1(NM_004315.6):c.107G>A (p.S36N) - ASAH1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.108_114del r.(?) p.(Ser36ArgfsTer2) Unknown - VUS g.17942197_17942203del g.18084688_18084694del ASAH1(NM_004315.5):c.108_114delCTTTGCT (p.S36Rfs*2) - ASAH1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126+51T>C r.(=) p.(=) Unknown - benign g.17942134A>G g.18084625A>G ASAH1(NM_004315.6):c.126+51T>C - ASAH1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.126+619T>C r.(?) p.? Parent #1 - VUS g.17941566A>G g.18084057A>G NM_177924:c.2T>C (M1T) - ASAH1_000076 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat43 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.126+682_126+690del r.(=) p.(=) Unknown - VUS g.17941500_17941508del g.18083991_18083999del ASAH1(NM_177924.3):c.65_73del (p.(Gln22_Ala24del)) - ASAH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.126+694C>G r.spl? p.(=) Paternal (confirmed) - likely pathogenic g.17941491G>C g.18083982G>C - - ASAH1_000029 - - - - Germline yes - - - - DNA SEQ-NG-I - - SMAPME van der Beek EJHG 2018 - - F no - - - - - - 1 Gisèle Bonne
-/. - c.127-3C>T r.spl? p.? Unknown - benign g.17933099G>A g.18075590G>A ASAH1(NM_177924.5):c.79-3C>T - ASAH1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136G>A r.(?) p.(Asp46Asn) Unknown - likely benign g.17933087C>T g.18075578C>T ASAH1(NM_001127505.1):c.136G>A (p.(Asp46Asn)), ASAH1(NM_177924.5):c.88G>A (p.D30N) - ASAH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136G>A r.(?) p.(Asp46Asn) Unknown - VUS g.17933087C>T - ASAH1(NM_001127505.1):c.136G>A (p.(Asp46Asn)), ASAH1(NM_177924.5):c.88G>A (p.D30N) - ASAH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.172A>G r.172a>g p.Thr58Ala Paternal (inferred) - pathogenic g.17933051T>C g.18075542T>C - - ASAH1_000003 - - - rs779888892 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMA - - family, 2 patients F yes Pakistan Pakistan >30y - - - 2 Mirella Filocamo
+/. 2 c.172A>G r.172a>g p.Thr58Ala Maternal (inferred) - pathogenic g.17933051T>C g.18075542T>C - - ASAH1_000003 - - - rs779888892 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMA - - family, 2 patients F yes Pakistan Pakistan >30y - - - 2 Mirella Filocamo
+/. 2 c.173C>T r.173c>u p.Thr58Met Paternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 4-generation family, 3 affecteds M yes Turkey - 13y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Paternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Paternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Paternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Paternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - 1 Johan den Dunnen
-/- 2 c.173C>T r.173c>u p.Thr58Met Parent #1 - benign g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: Zhou 2012 4-generation family, unaffected carrier parents - yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Parent #1 - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: Zhou 2012 2-generation family, unaffected carrier parents - no Italy - - - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Parent #1 - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA arraySNP, PCRq, RT-PCR, SEQ - - Healthy/Control - PubMed: Zhou 2012 2-generation family, unaffected mother F no Italy - - - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Maternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 4-generation family, 3 affecteds M yes Turkey - 13y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Maternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Maternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 4-generation family, 3 affecteds F yes Turkey - 17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Maternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Maternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 2-generation family, 2 affecteds F no Italy - >17y - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Maternal (confirmed) - pathogenic g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - - - DNA, RNA arraySNP, PCRq, RT-PCR, SEQ - - SMAPME - PubMed: Zhou 2012 2-generation family, affected child F no Italy - - - - - 1 Johan den Dunnen
+/. 2 c.173C>T r.173c>u p.Thr58Met Unknown - NA g.17933050G>A g.18075541G>A - - ASAH1_000001 expression cloningFarber patient fibroblasts, acid-ceramidase activity 0.32, able to normalize ceramide levels PubMed: Zhou 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.173C>T r.173c>u p.Thr58Met Unknown - NA g.17933050G>A g.18075541G>A - - ASAH1_000001 zebra fish morpholino marked loss motor-neuron axonal branching, increased apoptosis spinal cord PubMed: Zhou 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.173C>T r.(?) p.(Thr58Met) Parent #1 - likely pathogenic g.17933050G>A g.18075541G>A - - ASAH1_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145873635 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2i c.173+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.17933049C>T g.18075540C>T - - ASAH1_000028 - - - - Germline yes - - - - DNA SEQ-NG-I - - SMAPME van der Beek EJHG 2018 - - F no - - - - - - 1 Gisèle Bonne
-?/. - c.173+197T>C r.(=) p.(=) Unknown - likely benign g.17932853A>G g.18075344A>G ASAH1(NM_004315.6):c.173+197T>C - ASAH1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174-1873G>A r.(=) p.(=) Unknown - benign g.17930772C>T g.18073263C>T ASAH1(NM_001127505.3):c.187G>A (p.V63I) - ASAH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174-1873G>A r.(=) p.(=) Unknown - benign g.17930772C>T g.18073263C>T ASAH1(NM_001127505.3):c.187G>A (p.V63I) - ASAH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174-125G>T r.(=) p.(=) Unknown - benign g.17929024C>A g.18071515C>A ASAH1(NM_004315.6):c.174-125G>T - ASAH1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180A>T r.(?) p.(Arg60Ser) Unknown - likely benign g.17928893T>A g.18071384T>A ASAH1(NM_177924.5):c.132A>T (p.R44S) - ASAH1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231A>G r.(?) p.(Arg77=) Unknown - likely benign g.17928842T>C g.18071333T>C ASAH1(NM_177924.5):c.183A>G (p.R61=) - ASAH1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.262G>A r.(?) p.(Val88Met) Unknown - benign g.17928811C>T g.18071302C>T ASAH1(NM_177924.5):c.214G>A (p.V72M) - ASAH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.262G>A r.(?) p.(Val88Met) Unknown - benign g.17928811C>T g.18071302C>T ASAH1(NM_177924.5):c.214G>A (p.V72M) - ASAH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264+46_264+47insTAT r.(=) p.(=) Unknown - likely benign g.17928763_17928764insTAA g.18071254_18071255insTAA ASAH1(NM_004315.6):c.264+46_264+47insTAT - ASAH1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.265-87C>G r.(=) p.(=) Unknown - likely benign g.17927474G>C g.18069965G>C ASAH1(NM_004315.6):c.265-87C>G - ASAH1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.265-76A>T r.(=) p.(=) Unknown - benign g.17927463T>A g.18069954T>A ASAH1(NM_004315.6):c.265-76A>T - ASAH1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325A>G r.(?) p.(Ile109Val) Unknown - benign g.17927327T>C g.18069818T>C ASAH1(NM_177924.5):c.277A>G (p.I93V) - ASAH1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325A>G r.(?) p.(Ile109Val) Unknown - benign g.17927327T>C g.18069818T>C ASAH1(NM_177924.5):c.277A>G (p.I93V) - ASAH1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.350_431-1del r.spl p.? Both (homozygous) - pathogenic (recessive) g.17922041_17927302del g.18064532_18069793del - - ASAH1_000063 - - - - Germline yes - - - - DNA, RNA SEQ-NG-I - 112/112 reads FRBRL - - - M yes (Egypt) - 01y07m - - - 1 Mohamed A. Elmonem
-/. - c.351+7G>A r.(=) p.(=) Unknown - benign g.17927294C>T g.18069785C>T ASAH1(NM_177924.5):c.303+7G>A - ASAH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351+7G>A r.(=) p.(=) Unknown - benign g.17927294C>T g.18069785C>T ASAH1(NM_177924.5):c.303+7G>A - ASAH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351+21C>A r.(=) p.(=) Unknown - benign g.17927280G>T g.18069771G>T ASAH1(NM_177924.5):c.303+21C>A - ASAH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351+88G>A r.(=) p.(=) Unknown - likely benign g.17927213C>T g.18069704C>T ASAH1(NM_004315.6):c.351+88G>A - ASAH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>C r.(?) p.(Gly119Ala) Unknown - likely benign g.17924803C>G g.18067294C>G ASAH1(NM_001127505.1):c.290G>C (p.(Gly97Ala)) - ASAH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420T>A r.(?) p.(Asp140Glu) Unknown - benign g.17924739A>T g.18067230A>T ASAH1(NM_004315.6):c.420T>A (p.D140E), ASAH1(NM_177924.5):c.372T>A (p.D124E) - ASAH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420T>A r.(?) p.(Asp140Glu) Unknown - benign g.17924739A>T g.18067230A>T ASAH1(NM_004315.6):c.420T>A (p.D140E), ASAH1(NM_177924.5):c.372T>A (p.D124E) - ASAH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422T>C r.(?) p.(Ile141Thr) Unknown - VUS g.17924737A>G - ASAH1(NM_177924.3):c.374T>C (p.(Ile125Thr)) - ASAH1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.424C>A r.(?) p.(Pro142Thr) Unknown - VUS g.17924735G>T - ASAH1(NM_177924.5):c.376C>A (p.P126T) - ASAH1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.430+10A>G r.(=) p.(=) Unknown - benign g.17924719T>C g.18067210T>C ASAH1(NM_004315.6):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G - ASAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430+10A>G r.(=) p.(=) Unknown - likely benign g.17924719T>C g.18067210T>C ASAH1(NM_004315.6):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G - ASAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430+10A>G r.(=) p.(=) Unknown - likely benign g.17924719T>C - ASAH1(NM_004315.6):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G - ASAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.430+32del r.(=) p.(=) Unknown - benign g.17924706del g.18067197del ASAH1(NM_004315.6):c.430+32delA - ASAH1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430+59A>G r.(=) p.(=) Unknown - likely benign g.17924670T>C g.18067161T>C ASAH1(NM_004315.6):c.430+59A>G - ASAH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.430+84C>A r.(=) p.(=) Unknown - benign g.17924645G>T g.18067136G>T ASAH1(NM_004315.6):c.430+84C>A - ASAH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430+115_430+116insCAAA r.(=) p.(=) Unknown - likely benign g.17924613_17924614insTTTG g.18067104_18067105insTTTG ASAH1(NM_004315.6):c.430+115_430+116insCAAA - ASAH1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430+116del r.(=) p.(=) Unknown - likely benign g.17924614del g.18067105del ASAH1(NM_004315.6):c.430+116delG - ASAH1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.458A>G r.458a>g p.Tyr153Cys Parent #1 - likely pathogenic g.17922013T>C g.18064504T>C - - ASAH1_000045 - PubMed: Kernohan 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES SMA patient PubMed: Kernohan 2017, PubMed: Fresard 2019 - M no Canada - - - - - 1 Johan den Dunnen
?/. - c.460G>A r.(?) p.(Glu154Lys) Unknown - VUS g.17922011C>T - ASAH1(NM_177924.5):c.412G>A (p.E138K) - ASAH1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.504A>C r.431_505del p.Glu145_Gly169del Parent #2 - pathogenic (recessive) g.17921967T>G g.18064458T>G - - ASAH1_000046 - PubMed: Kernohan 2017, PubMed: Fresard 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES SMA patient PubMed: Kernohan 2017, PubMed: Fresard 2019 - M no Canada - - - - - 1 Johan den Dunnen
+?/. - c.504A>C r.(?) p.(Lys168Asn) Maternal (confirmed) ACMG likely pathogenic g.17921967T>G - - - ASAH1_000046 ACMG PM1, PM2, PM3, PP4, PP5; The patient's electroclinical phenotype is consistent with previous reports of SMA-PME due to pathogenic variants in ASAH1. The parents are not related, consistent with the bi-allelic autosomal recessive inheritance of two rare damaging variants in this established PME gene. Thus, the phenotype is compatible with the genetic finding. PubMed: Courage 2021, Journal: Courage 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG WES trio - SMAPME PME9 PubMed: Courage 2021, Journal: Courage 2021 - M no Australia - - - - - 1 Carolina Courage
-/. - c.505+5T>C r.spl? p.? Unknown - benign g.17921961A>G g.18064452A>G ASAH1(NM_004315.6):c.505+5T>C - ASAH1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505+7G>A r.(=) p.(=) Unknown - likely benign g.17921959C>T - ASAH1(NM_177924.5):c.457+7G>A - ASAH1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.506-83_506-79del r.(=) p.(=) Unknown - likely benign g.17920821_17920825del g.18063312_18063316del ASAH1(NM_004315.6):c.506-83_506-79delATTAA - ASAH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506-2A>G r.spl? p.? Unknown - likely pathogenic g.17920741T>C - - - ASAH1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542T>C r.(?) p.(Val181Ala) Unknown - VUS g.17920703A>G g.18063194A>G ASAH1(NM_177924.5):c.494T>C (p.V165A) - ASAH1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.552-4A>G r.spl? p.? Unknown - VUS g.17919936T>C g.18062427T>C - - ASAH1_000011 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs138920776 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_265:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
+?/. - c.553T>C r.(?) p.(Trp185Arg) Unknown - likely pathogenic g.17919931A>G g.18062422A>G ASAH1(NM_177924.5):c.505T>C (p.W169R) - ASAH1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 3/567 controls - - - DNA SEQ-NG - - Healthy/Control S_156:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 3/567 controls - - - DNA SEQ-NG - - Healthy/Control S_158:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 3/567 controls - - - DNA SEQ-NG - - Healthy/Control S_165:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_755:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
?/. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A g.18062307T>A ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe)) - ASAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A g.18062307T>A ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe)) - ASAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A - ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe)) - ASAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668A>T r.(?) p.(Tyr223Phe) Unknown - VUS g.17919816T>A - ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe)) - ASAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.677T>C r.(?) p.(Met226Thr) Unknown - VUS g.17919807A>G g.18062298A>G - - ASAH1_000009 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs141068211 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_280:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.677T>C r.(?) p.(Met226Thr) Unknown - VUS g.17919807A>G g.18062298A>G - - ASAH1_000009 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs141068211 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_651:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
?/. - c.677T>C r.(?) p.(Met226Thr) Unknown - VUS g.17919807A>G g.18062298A>G ASAH1(NM_177924.5):c.629T>C (p.M210T) - ASAH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677T>C r.(?) p.(Met226Thr) Unknown - VUS g.17919807A>G - ASAH1(NM_177924.5):c.629T>C (p.M210T) - ASAH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697-8T>C r.(=) p.(=) Unknown - likely benign g.17919257A>G g.18061748A>G ASAH1(NM_004315.6):c.697-8T>C - ASAH1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.697-7_697-6del r.(=) p.(=) Unknown - VUS g.17919258_17919259del - ASAH1(NM_177924.5):c.649-7_649-6delTT - ASAH1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.752-19T>C r.(=) p.(=) Unknown - benign g.17918986A>G g.18061477A>G ASAH1(NM_177924.5):c.704-19T>C - ASAH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.785T>C r.(?) p.(Val262Ala) Unknown - benign g.17918934A>G g.18061425A>G ASAH1(NM_177924.5):c.737T>C (p.V246A) - ASAH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.785T>C r.(?) p.(Val262Ala) Unknown - benign g.17918934A>G g.18061425A>G ASAH1(NM_177924.5):c.737T>C (p.V246A) - ASAH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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