All transcript variants in 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.

98 entries on 1 page. Showing entries 1 - 98.
Legend  

Effect     

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_14_ c.(?_-197)_(*1118_?)del - r.0 p.0 g.(?_17913925)_(17942507_?)del - chr8.hg19:g.17,909,063_17,964,559del - ASAH1_000002 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_14_ c.(?_-197)_(*1118_?)del - r.0 p.0 g.(?_17913925)_(17942507_?)del - chr8.hg19:g.17,909,063_17,964,559del - ASAH1_000002 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.-117T>A benign r.(?) p.(=) g.17942427A>T - ASAH1(NM_004315.5):c.-117T>A - ASAH1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-22T>C benign r.(?) p.(=) g.17942332A>G - ASAH1(NM_004315.5):c.-22T>C - ASAH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.27G>C VUS r.(?) p.(Glu9Asp) g.17942284C>G - ASAH1(NM_004315.5):c.27G>C (p.E9D) - ASAH1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.30A>G likely benign r.(?) p.(=) g.17942281T>C - ASAH1(NM_004315.5):c.30A>G (p.K10=) - ASAH1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.35G>C - r.(?) p.(Arg12Pro) g.17942276C>G g.18084767C>G - - ASAH1_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147896487 Germline - 2/194 cases RE - 0 - Dheeraj Bobbili
./. - c.35G>C - r.(?) p.(Arg12Pro) g.17942276C>G g.18084767C>G - - ASAH1_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147896487 Germline - 2/194 cases RE - 0 - Dheeraj Bobbili
-?/. - c.35G>C likely benign r.(?) p.(Arg12Pro) g.17942276C>G - ASAH1(NM_004315.5):c.35G>C (p.R12P) - ASAH1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.82G>A likely benign r.(?) p.(Glu28Lys) g.17942229C>T - ASAH1(NM_004315.5):c.82G>A (p.E28K) - ASAH1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.101T>C VUS r.(?) p.(Phe34Ser) g.17942210A>G - ASAH1(NM_004315.5):c.101T>C (p.F34S) - ASAH1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.107G>A benign r.(?) p.(Ser36Asn) g.17942204C>T - ASAH1(NM_004315.5):c.107G>A (p.S36N) - ASAH1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.108_114del VUS r.(?) p.(Ser36Argfs*2) g.17942197_17942203del - ASAH1(NM_004315.5):c.108_114delCTTTGCT (p.S36Rfs*2) - ASAH1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.126+51T>C benign r.(=) p.(=) g.17942134A>G - ASAH1(NM_004315.5):c.126+51T>C - ASAH1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.126+682_126+690del VUS r.(=) p.(=) g.17941500_17941508del - ASAH1(NM_177924.3):c.65_73del (p.(Gln22_Ala24del)) - ASAH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2i c.126+694C>G - r.spl? p.? g.17941491G>C - - - ASAH1_000029 - - - - Germline yes - - 0 - Gisèle Bonne
-/. - c.127-3C>T benign r.spl? p.? g.17933099G>A - ASAH1(NM_177924.5):c.79-3C>T - ASAH1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.136G>A likely benign r.(?) p.(Asp46Asn) g.17933087C>T - ASAH1(NM_001127505.1):c.136G>A (p.(Asp46Asn)) - ASAH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 c.172A>G - r.172a>g p.Thr58Ala g.17933051T>C g.18075542T>C - - ASAH1_000003 - - - rs779888892 Germline yes - - 0 - Mirella Filocamo
+/. 2 c.172A>G - r.172a>g p.Thr58Ala g.17933051T>C g.18075542T>C - - ASAH1_000003 - - - rs779888892 Germline yes - - 0 - Mirella Filocamo
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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 - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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 - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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 - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
-/- 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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 - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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 - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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 - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met g.17933050G>A g.18075541G>A NM_177924.3:c.125C>T (Thr42Met) - ASAH1_000001 - PubMed: Zhou 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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) - - - 0 - Johan den Dunnen
+/. 2 c.173C>T - r.173c>u p.Thr58Met 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) - - - 0 - Johan den Dunnen
+/. 2i c.173+1G>A - r.spl p.? g.17933049C>T - - - ASAH1_000028 - - - - Germline yes - - 0 - Gisèle Bonne
-?/. - c.173+197T>C likely benign r.(=) p.(=) g.17932853A>G - ASAH1(NM_004315.5):c.173+197T>C - ASAH1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.174-1873G>A benign r.(=) p.(=) g.17930772C>T - ASAH1(NM_001127505.2):c.187G>A (p.V63I), ASAH1(NM_001127505.3):c.187G>A (p.V63I) - ASAH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.174-1873G>A benign r.(=) p.(=) g.17930772C>T - ASAH1(NM_001127505.2):c.187G>A (p.V63I), ASAH1(NM_001127505.3):c.187G>A (p.V63I) - ASAH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.174-125G>T benign r.(=) p.(=) g.17929024C>A - ASAH1(NM_004315.5):c.174-125G>T - ASAH1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.180A>T likely benign r.(?) p.(Arg60Ser) g.17928893T>A - ASAH1(NM_177924.5):c.132A>T (p.R44S) - ASAH1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.231A>G likely benign r.(?) p.(=) g.17928842T>C - ASAH1(NM_177924.5):c.183A>G (p.R61=) - ASAH1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.262G>A benign r.(?) p.(Val88Met) g.17928811C>T - ASAH1(NM_177924.4):c.214G>A (p.V72M), ASAH1(NM_177924.5):c.214G>A (p.V72M) - ASAH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.262G>A benign r.(?) p.(Val88Met) g.17928811C>T - ASAH1(NM_177924.4):c.214G>A (p.V72M), ASAH1(NM_177924.5):c.214G>A (p.V72M) - ASAH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.264+46_264+47insTAT likely benign r.(=) p.(=) g.17928763_17928764insTAA - ASAH1(NM_004315.5):c.264+46_264+47insTAT - ASAH1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.265-87C>G likely benign r.(=) p.(=) g.17927474G>C - ASAH1(NM_004315.5):c.265-87C>G - ASAH1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.265-76A>T benign r.(=) p.(=) g.17927463T>A - ASAH1(NM_004315.5):c.265-76A>T - ASAH1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.325A>G benign r.(?) p.(Ile109Val) g.17927327T>C - ASAH1(NM_177924.4):c.277A>G (p.I93V), ASAH1(NM_177924.5):c.277A>G (p.I93V) - ASAH1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.325A>G benign r.(?) p.(Ile109Val) g.17927327T>C - ASAH1(NM_177924.4):c.277A>G (p.I93V), ASAH1(NM_177924.5):c.277A>G (p.I93V) - ASAH1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.351+7G>A benign r.(=) p.(=) g.17927294C>T - ASAH1(NM_177924.4):c.303+7G>A, ASAH1(NM_177924.5):c.303+7G>A - ASAH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.351+7G>A benign r.(=) p.(=) g.17927294C>T - ASAH1(NM_177924.4):c.303+7G>A, ASAH1(NM_177924.5):c.303+7G>A - ASAH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.351+21C>A benign r.(=) p.(=) g.17927280G>T - ASAH1(NM_177924.5):c.303+21C>A - ASAH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.351+88G>A likely benign r.(=) p.(=) g.17927213C>T - ASAH1(NM_004315.5):c.351+88G>A - ASAH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.356G>C likely benign r.(?) p.(Gly119Ala) g.17924803C>G - ASAH1(NM_001127505.1):c.290G>C (p.(Gly97Ala)) - ASAH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.420T>A benign r.(?) p.(Asp140Glu) g.17924739A>T - ASAH1(NM_004315.5):c.420T>A (p.D140E), ASAH1(NM_177924.5):c.372T>A (p.D124E) - ASAH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.420T>A benign r.(?) p.(Asp140Glu) g.17924739A>T - ASAH1(NM_004315.5):c.420T>A (p.D140E), ASAH1(NM_177924.5):c.372T>A (p.D124E) - ASAH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.430+10A>G benign r.(=) p.(=) g.17924719T>C - ASAH1(NM_004315.5):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G - ASAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.430+10A>G likely benign r.(=) p.(=) g.17924719T>C - ASAH1(NM_004315.5):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G - ASAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.430+32del benign r.(=) p.(=) g.17924706del - ASAH1(NM_004315.5):c.430+32delA - ASAH1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.430+59A>G likely benign r.(=) p.(=) g.17924670T>C - ASAH1(NM_004315.5):c.430+59A>G - ASAH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.430+84C>A benign r.(=) p.(=) g.17924645G>T - ASAH1(NM_004315.5):c.430+84C>A - ASAH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.430+115_430+116insCAAA likely benign r.(=) p.(=) g.17924613_17924614insTTTG - ASAH1(NM_004315.5):c.430+115_430+116insCAAA - ASAH1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.430+116del likely benign r.(=) p.(=) g.17924614del - ASAH1(NM_004315.5):c.430+116delG - ASAH1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.458A>G likely pathogenic r.458a>g p.Tyr153Cys g.17922013T>C - - - ASAH1_000045 - PubMed: Kernohan 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.504A>C pathogenic (recessive) r.431_505del p.Glu145_Gly169del g.17921967T>G - - - ASAH1_000046 - PubMed: Kernohan 2017, PubMed: Fresard 2019 - - Germline - - - 0 - Johan den Dunnen
-/. - c.505+5T>C benign r.spl? p.? g.17921961A>G - ASAH1(NM_004315.5):c.505+5T>C - ASAH1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.506-83_506-79del likely benign r.(=) p.(=) g.17920821_17920825del - ASAH1(NM_004315.5):c.506-83_506-79delATTAA - ASAH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.542T>C VUS r.(?) p.(Val181Ala) g.17920703A>G - ASAH1(NM_177924.4):c.494T>C (p.V165A) - ASAH1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.552-4A>G - r.spl? p.? g.17919936T>C g.18062427T>C - - ASAH1_000011 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs138920776 Germline - 1/567 controls - 0 - Dheeraj Bobbili
+?/. - c.553T>C likely pathogenic r.(?) p.(Trp185Arg) g.17919931A>G - ASAH1(NM_177924.4):c.505T>C (p.W169R) - ASAH1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.668A>T - r.(?) p.(Tyr223Phe) g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 3/567 controls - 0 - Dheeraj Bobbili
./. - c.668A>T - r.(?) p.(Tyr223Phe) g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 3/567 controls - 0 - Dheeraj Bobbili
./. - c.668A>T - r.(?) p.(Tyr223Phe) g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 3/567 controls - 0 - Dheeraj Bobbili
./. - c.668A>T - r.(?) p.(Tyr223Phe) g.17919816T>A g.18062307T>A - - ASAH1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150268016 Germline - 1/194 cases RE - 0 - Dheeraj Bobbili
?/. - c.668A>T VUS r.(?) p.(Tyr223Phe) g.17919816T>A - ASAH1(NM_177924.4):c.620A>T (p.Y207F), ASAH1(NM_177924.5):c.620A>T (p.Y207F) - ASAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.668A>T VUS r.(?) p.(Tyr223Phe) g.17919816T>A - ASAH1(NM_177924.4):c.620A>T (p.Y207F), ASAH1(NM_177924.5):c.620A>T (p.Y207F) - ASAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.677T>C - r.(?) p.(Met226Thr) g.17919807A>G g.18062298A>G - - ASAH1_000009 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs141068211 Germline - 1/567 controls - 0 - Dheeraj Bobbili
./. - c.677T>C - r.(?) p.(Met226Thr) g.17919807A>G g.18062298A>G - - ASAH1_000009 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs141068211 Germline - 1/194 cases RE - 0 - Dheeraj Bobbili
?/. - c.677T>C VUS r.(?) p.(Met226Thr) g.17919807A>G - ASAH1(NM_177924.5):c.629T>C (p.M210T) - ASAH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.697-8T>C likely benign r.(=) p.(=) g.17919257A>G - ASAH1(NM_004315.5):c.697-8T>C - ASAH1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.752-19T>C benign r.(=) p.(=) g.17918986A>G - ASAH1(NM_177924.5):c.704-19T>C - ASAH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.785T>C benign r.(?) p.(Val262Ala) g.17918934A>G - ASAH1(NM_177924.4):c.737T>C (p.V246A), ASAH1(NM_177924.5):c.737T>C (p.V246A) - ASAH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.785T>C benign r.(?) p.(Val262Ala) g.17918934A>G - ASAH1(NM_177924.4):c.737T>C (p.V246A), ASAH1(NM_177924.5):c.737T>C (p.V246A) - ASAH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.833+13G>A benign r.(=) p.(=) g.17918873C>T - ASAH1(NM_177924.5):c.785+13G>A - ASAH1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1045C>G ACMG: 5 r.(?) p.(Arg349Gly) g.17916894G>C g.18059385G>C - - ASAH1_000004 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
./. - c.1052C>T - r.(?) p.(Thr351Met) g.17916887G>A g.18059378G>A - - ASAH1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147233112 Germline - 4/567 controls - 0 - Dheeraj Bobbili
./. - c.1052C>T - r.(?) p.(Thr351Met) g.17916887G>A g.18059378G>A - - ASAH1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147233112 Germline - 4/567 controls - 0 - Dheeraj Bobbili
./. - c.1052C>T - r.(?) p.(Thr351Met) g.17916887G>A g.18059378G>A - - ASAH1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147233112 Germline - 4/567 controls - 0 - Dheeraj Bobbili
./. - c.1052C>T - r.(?) p.(Thr351Met) g.17916887G>A g.18059378G>A - - ASAH1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs147233112 Germline - 4/567 controls - 0 - Dheeraj Bobbili
?/. - c.1052C>T VUS r.(?) p.(Thr351Met) g.17916887G>A - ASAH1(NM_177924.5):c.1004C>T (p.T335M) - ASAH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.1112A>G - r.(?) p.(Tyr371Cys) g.17916378T>C g.18058869T>C - - ASAH1_000007 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
-/. - c.1147-58A>G benign r.(=) p.(=) g.17915190T>C - ASAH1(NM_004315.5):c.1147-58A>G - ASAH1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.1153G>A - r.(?) p.(Val385Ile) g.17915126C>T g.18057617C>T - - ASAH1_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs17636067 Germline - 2/567 controls - 0 - Dheeraj Bobbili
./. - c.1153G>A - r.(?) p.(Val385Ile) g.17915126C>T g.18057617C>T - - ASAH1_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs17636067 Germline - 2/567 controls - 0 - Dheeraj Bobbili
-?/. - c.1153G>A likely benign r.(?) p.(Val385Ile) g.17915126C>T - ASAH1(NM_177924.4):c.1105G>A (p.V369I) - ASAH1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.1217A>G - r.(?) p.(Asp406Gly) g.17915062T>C g.18057553T>C - - ASAH1_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs373012279 Germline - 1/567 controls - 0 - Dheeraj Bobbili
-/. - c.*171del benign r.(?) p.(=) g.17914881del - ASAH1(NM_004315.5):c.*171delT - ASAH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend