Full data view for gene SLC37A4

Information The variants shown are described using the NM_001164277.1 transcript reference sequence.

110 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     
?/. - c.-699-3C>A r.spl? p.? Unknown - VUS g.118901448G>T - SLC37A4(NM_001164277.1):c.-699-3C>A - SLC37A4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.? p.? Parent #2 - likely pathogenic (recessive) g.? - 1211delCT (A400X) - DRD4_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/? 3 c.59G>A r.(?) p.(Gly20Asp) Unknown - pathogenic g.118900021C>T g.119029311C>T - - SLC37A4_000005 submitted through SIB; ExPASy_025581 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 3 c.70T>C r.(?) p.(Tyr24His) Unknown - pathogenic g.118900010A>G g.119029300A>G - - SLC37A4_000012 submitted through SIB; ExPASy_025582 PubMed: Yuen 2002 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.70T>C r.(?) p.(Tyr24His) Parent #1 - likely pathogenic g.118900010A>G g.119029300A>G - - SLC37A4_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193302887 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
+/? 3 c.81T>A r.(?) p.(Asn27Lys) Unknown - pathogenic g.118899999A>T g.119029289A>T - - SLC37A4_000014 submitted through SIB; ExPASy_025583 PubMed: Santer 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 3 c.82C>T r.(?) p.(Arg28Cys) Unknown - pathogenic g.118899998G>A g.119029288G>A - - SLC37A4_000006 submitted through SIB; ExPASy_025584 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. 3 c.82C>T r.(?) p.(Arg28Cys) Parent #1 ACMG pathogenic (recessive) g.118899998G>A g.119029288G>A - - SLC37A4_000006 Kishnani 2014:25356975, Jun 2014:24565827, Dissanayake 2011:21629566 - ClinVar-68291 rs193302882 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing GSD1B 3bINP-097 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/? 3 c.83G>A r.(?) p.(Arg28His) Unknown - pathogenic g.118899997C>T g.119029287C>T - - SLC37A4_000018 submitted through SIB; ExPASy_016840 PubMed: Hiraiwa 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 3 c.148G>C r.(spl?) p.(Gly50Arg) Unknown - pathogenic g.118899932C>G g.119029222C>G - - SLC37A4_000021 submitted through SIB; ExPASy_025585 PubMed: Veiga-da-Cunha 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.149-14A>G r.(=) p.(=) Unknown - benign g.118899150T>C g.119028440T>C SLC37A4(NM_001164278.2):c.149-14A>G - SLC37A4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.149G>A r.(spl?) p.(Gly50Glu) Unknown - pathogenic g.118899136C>T g.119028426C>T - - SLC37A4_000034 submitted through SIB; ExPASy_066394 PubMed: Dissanayake 2011 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.150G>T r.(?) p.(Gly50=) Unknown - likely benign g.118899135C>A g.119028425C>A SLC37A4(NM_001164277.1):c.150G>T (p.G50=) - SLC37A4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.162C>A r.(?) p.(Ser54Arg) Unknown - pathogenic g.118899123G>T g.119028413G>T - - SLC37A4_000025 submitted through SIB; ExPASy_025586 PubMed: Janecke 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 4 c.163A>C r.(?) p.(Ser55Arg) Unknown - pathogenic g.118899122T>G g.119028412T>G - - SLC37A4_000008 submitted through SIB; ExPASy_025587 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.183T>C r.(?) p.(Ala61=) Unknown - likely benign g.118899102A>G - SLC37A4(NM_001164277.1):c.183T>C (p.(=)) - SLC37A4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.202G>A r.(?) p.(Gly68Arg) Unknown - pathogenic g.118899083C>T g.119028373C>T - - SLC37A4_000009 submitted through SIB; ExPASy_025588 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.242C>T r.(?) p.(Ser81Phe) Unknown - VUS g.118899043G>A g.119028333G>A SLC37A4(NM_001164277.1):c.242C>T (p.S81F) - SLC37A4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.254T>C r.(?) p.(Leu85Pro) Unknown - pathogenic g.118899031A>G g.119028321A>G - - SLC37A4_000026 submitted through SIB; ExPASy_025589 PubMed: Chou 2002 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 4 c.263G>A r.(?) p.(Gly88Asp) Unknown - pathogenic g.118899022C>T g.119028312C>T - - SLC37A4_000010 submitted through SIB; ExPASy_025590 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 4 c.287G>A r.(?) p.(Trp96*) Unknown - pathogenic g.118898998C>T g.119028288C>T - - SLC37A4_000033 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD1B - - - F - Australia - - - - - 1 Shu Yau
?/? 4 c.287G>A r.(?) p.(Trp96*) Unknown - VUS g.118898998C>T g.119028288C>T - - SLC37A4_000033 - - - rs121908976 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310G>A r.(?) p.? Unknown - VUS g.118898975C>T - SLC37A4(NM_001164277.2):c.310G>A (p.(Ala104Thr)) - TRAPPC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.352T>C r.(?) p.(Trp118Arg) Unknown - pathogenic g.118898933A>G g.119028223A>G - - SLC37A4_000029 submitted through SIB; ExPASy_007850 PubMed: Kure 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.398A>C r.(?) p.(Gln133Pro) Unknown - pathogenic g.118898566T>G g.119027856T>G - - SLC37A4_000023 submitted through SIB; ExPASy_025591 PubMed: Veiga-da-Cunha 1999 - - Unknown - - - - - DNA SEQ - - GSD1C - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.443C>T r.(?) p.(Ala148Val) Unknown - pathogenic g.118898521G>A g.119027811G>A - - SLC37A4_000003 submitted through SIB; ExPASy_066395 PubMed: Han 2005 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.446G>A r.(?) p.(Gly149Glu) Unknown - pathogenic g.118898518C>T g.119027808C>T - - SLC37A4_000019 submitted through SIB; ExPASy_003184 PubMed: Hiraiwa 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.448G>A r.(?) p.(Gly150Arg) Unknown - pathogenic g.118898516C>T g.119027806C>T - - SLC37A4_000007 submitted through SIB; ExPASy_025592 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.458C>T r.(?) p.(Pro153Leu) Unknown - pathogenic g.118898506G>A g.119027796G>A - - SLC37A4_000015 submitted through SIB; ExPASy_025593 PubMed: Santer 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.464_473delinsCCC r.(?) p.(Leu155ProfsTer55) Parent #1 - likely pathogenic (recessive) g.118898491_118898500delinsGGG g.119027781_119027790delinsGGG 464del10ins3C - SLC37A4_000071 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
?/. - c.467C>T r.(?) p.(Ala156Val) Unknown - VUS g.118898497G>A g.119027787G>A SLC37A4(NM_001164277.1):c.467C>T (p.A156V) - SLC37A4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467C>T r.(?) p.(Ala156Val) Parent #1 - VUS g.118898497G>A g.119027787G>A [467C>T;572C>G] - SLC37A4_000056 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P3 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
-?/. - c.467C>T r.(?) p.(Ala156Val) Unknown - likely benign g.118898497G>A - SLC37A4(NM_001164277.1):c.467C>T (p.A156V) - SLC37A4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.467C>T r.(?) p.(Ala156Val) Unknown - likely benign g.118898497G>A - SLC37A4(NM_001164277.1):c.467C>T (p.A156V) - SLC37A4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Ser164=) Unknown - likely benign g.118898472G>A g.119027762G>A SLC37A4(NM_001164277.1):c.492C>T (p.S164=) - SLC37A4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.497G>A r.(?) p.(Arg166His) Parent #1 - VUS g.118898467C>T g.119027757C>T - - SLC37A4_000060 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs186476316 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.525_527= r.(=) p.(Leu175=) Unknown - benign g.118898437del g.119027727del SLC37A4(NM_001164277.1):c.527delG (p.C176Lfs*36), SLC37A4(NM_001164278.2):c.528delG (p.C176Wfs*36) - SLC37A4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525_527= r.(=) p.(Leu175=) Unknown - likely benign g.118898437del - SLC37A4(NM_001164277.1):c.527delG (p.C176Lfs*36), SLC37A4(NM_001164278.2):c.528delG (p.C176Wfs*36) - SLC37A4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.526T>C r.(?) p.(Cys176Arg) Unknown - pathogenic g.118898438A>G g.119027728A>G - - SLC37A4_000022 submitted through SIB; ExPASy_025594 PubMed: Veiga-da-Cunha 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.528del r.(?) p.(Cys176Trpfs*36) Unknown - likely pathogenic g.118898435del g.119027725del - - SLC37A4_000062 - PubMed: Neubauer 2021 - - Unknown - - - - - DNA SEQ-NG-I - - SUD SUDS030 PubMed: Neubauer 2021 - F - Switzerland Europe 34y - - - 1 Cordula Haas
+/? 5 c.547T>C r.(?) p.(Cys183Arg) Unknown - pathogenic g.118898416A>G g.119027706A>G - - SLC37A4_000020 submitted through SIB; ExPASy_025595 PubMed: Hiraiwa 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.547T>C r.(?) p.(Cys183Arg) Unknown - pathogenic g.118898416A>G g.119027706A>G - - SLC37A4_000020 submitted through SIB; ExPASy_025595 PubMed: Veiga-da-Cunha 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.556C>T r.(?) p.(Leu186Phe) Unknown - likely benign g.118898407G>A g.119027697G>A SLC37A4(NM_001164277.1):c.556C>T (p.L186F), SLC37A4(NM_001164277.2):c.556C>T (p.(Leu186Phe)) - SLC37A4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556C>T r.(?) p.(Leu186Phe) Unknown - VUS g.118898407G>A - SLC37A4(NM_001164277.1):c.556C>T (p.L186F), SLC37A4(NM_001164277.2):c.556C>T (p.(Leu186Phe)) - SLC37A4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572C>G r.(?) p.(Pro191Arg) Parent #1 - VUS g.118898391G>C g.119027681G>C [467C>T;572C>G] - SLC37A4_000063 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P3 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/? 5 c.572C>T r.(?) p.(Pro191Leu) Unknown - pathogenic g.118898392G>A - - - SLC37A4_000013 submitted through SIB; ExPASy_032113 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Yuen 2002 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 5 c.572C>T r.(?) p.(Pro191Leu) Unknown - pathogenic g.118898392G>A - - - SLC37A4_000013 submitted through SIB; ExPASy_032113 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Lam 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.593A>T r.(?) p.(Asn198Ile) Unknown - likely benign g.118898370T>A g.119027660T>A SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593A>T r.(?) p.(Asn198Ile) Unknown - likely benign g.118898370T>A g.119027660T>A SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593A>T r.(?) p.(Asn198Ile) Unknown - likely benign g.118898370T>A g.119027660T>A SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593A>T r.(?) p.(Asn198Ile) Unknown - likely benign g.118898370T>A - SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593A>T r.(?) p.(Asn198Ile) Unknown - likely benign g.118898370T>A - SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.595del r.(?) p.(Leu199Trpfs*13) Parent #1 - pathogenic (recessive) g.118898369del g.119027659del 595delC - SLC37A4_000069 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P10 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 LOVD
-/. - c.625+14C>T r.(=) p.(=) Unknown - benign g.118898324G>A g.119027614G>A SLC37A4(NM_001164278.2):c.626+14C>T - SLC37A4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.686T>C r.(?) p.(Leu229Pro) Unknown - pathogenic g.118897745A>G g.119027035A>G - - SLC37A4_000030 submitted through SIB; ExPASy_025597 PubMed: Trioche 2004 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.712G>C r.(?) p.(Gly238Arg) Unknown - VUS g.118897719C>G - - - TRAPPC4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.736T>C r.(?) p.(Trp246Arg) Unknown - pathogenic g.118897695A>G g.119026985A>G - - SLC37A4_000002 submitted through SIB; ExPASy_066396 PubMed: Hsiao 2009 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.752T>C r.(?) p.(Leu251Pro) Both (homozygous) - likely pathogenic g.118897679A>G g.119026969A>G SLC37A4 c.752T>C, p.(Leu251Pro) - SLC37A4_000072 homozygous PubMed: Mameesh 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease patient 1 PubMed: Mameesh 2017 sibling 1: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings M - Oman Omani - - - - 1 LOVD
+?/. - c.752T>C r.(?) p.(Leu251Pro) Both (homozygous) - likely pathogenic g.118897679A>G g.119026969A>G SLC37A4 c.752T>C, p.(Leu251Pro) - SLC37A4_000072 homozygous PubMed: Mameesh 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease patient 2 PubMed: Mameesh 2017 sibling 2: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings F - Oman Omani - - - - 1 LOVD
+?/. - c.752T>C r.(?) p.(Leu251Pro) Both (homozygous) - likely pathogenic g.118897679A>G g.119026969A>G SLC37A4 c.752T>C, p.(Leu251Pro) - SLC37A4_000072 homozygous PubMed: Mameesh 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease patient 3 PubMed: Mameesh 2017 sibling 3: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings F - Oman Omani - - - - 1 LOVD
?/. - c.784+3A>G r.spl? p.? Unknown - VUS g.118897644T>C - SLC37A4(NM_001164277.1):c.784+3A>G - TRAPPC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.785-3_786del r.spl p.? Both (homozygous) - pathogenic (recessive) g.118897397_118897401del g.119026687_119026691del 785-3_786del5 - SLC37A4_000068 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P8 PubMed: Wang 2013 - F - United States - - - - - 1 LOVD
+/. - c.817G>A r.(?) p.(Gly273Ser) Parent #1 - pathogenic (recessive) g.118897366C>T g.119026656C>T - - SLC37A4_000067 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P9 PubMed: Wang 2013 - F - United States - - - - - 1 LOVD
+/? 7 c.833T>A r.(?) p.(Ile278Asn) Unknown - pathogenic g.118897350A>T g.119026640A>T - - SLC37A4_000027 submitted through SIB; ExPASy_025598 PubMed: Chou 2002 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.857G>A r.(?) p.(Arg286Gln) Unknown - VUS g.118897326C>T g.119026616C>T SLC37A4(NM_001164277.1):c.857G>A (p.R286Q) - SLC37A4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857G>A r.(?) p.(Arg286Gln) Unknown - VUS g.118897326C>T - SLC37A4(NM_001164277.1):c.857G>A (p.R286Q) - SLC37A4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.898C>T r.(?) p.(Arg300Cys) Both (homozygous) ACMG pathogenic g.118896763G>A g.119026054G>A - - SLC37A4_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - GSD1B - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/? 8 c.898C>T r.(?) p.(Arg300Cys) Unknown - pathogenic g.118896763G>A g.119026053G>A - - SLC37A4_000001 submitted through SIB; ExPASy_066397 PubMed: Veiga-da-Cunha 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 8 c.899G>A r.(?) p.(Arg300His) Unknown - pathogenic g.118896762C>T g.119026052C>T - - SLC37A4_000031 submitted through SIB; ExPASy_025599 PubMed: Marcolongo 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 8 c.902A>C r.(?) p.(His301Pro) Unknown - pathogenic g.118896759T>G g.119026049T>G - - SLC37A4_000016 submitted through SIB; ExPASy_025600 PubMed: Santer 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.984+228C>G r.(=) p.(=) Unknown - VUS g.118896449G>C g.119025739G>C SLC37A4(NM_001164278.2):c.1004C>G (p.P335R) - SLC37A4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.984+247C>T r.(=) p.(=) Unknown - benign g.118896430G>A - - - TRAPPC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.984+270C>T r.(=) p.(=) Unknown - VUS g.118896407G>A g.119025697G>A - - SLC37A4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.985-48C>T r.(=) p.(=) Unknown - benign g.118896087G>A g.119025377G>A SLC37A4(NM_001164277.1):c.985-48C>T - SLC37A4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013T>C r.(?) p.? Unknown - VUS g.118896012A>G - SLC37A4(NM_001164277.1):c.1012T>C (p.F338L) - TRAPPC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.1015G>T r.(?) p.(Gly339Cys) Unknown - pathogenic g.118896009C>A g.119025299C>A - - SLC37A4_000011 submitted through SIB; ExPASy_003185 PubMed: Veiga-da-Cunha 1998 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 9 c.1015G>T r.(?) p.(Gly339Cys) Unknown - pathogenic g.118896009C>A g.119025299C>A - - SLC37A4_000011 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD1B - - - F - Australia - - - - - 1 Shu Yau
?/? 9 c.1015G>T r.(?) p.(Gly339Cys) Unknown - VUS g.118896009C>A g.119025299C>A - - SLC37A4_000011 - - - rs80356490 Unknown - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 9 c.1016G>A r.(?) p.(Gly339Asp) Unknown - pathogenic g.118896009C>T - - - SLC37A4_000032 submitted through SIB; ExPASy_025601 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Kure 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.1016G>T r.(?) p.? Unknown - likely pathogenic g.118896009C>A - SLC37A4(NM_001164278.1):c.1081G>T (p.(Gly361Cys)) - SLC37A4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1019_1038del r.(?) p.(Phe340CysfsTer55) Parent #2 - likely pathogenic (recessive) g.118895988_118896007del g.119025278_119025297del 1019_1038delTCTCCTCGTATGGCCCCATT - SLC37A4_000070 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1024T>C r.(?) p.(Ser342Pro) Parent #2 - pathogenic (recessive) g.118896000A>G g.119025290A>G - - SLC37A4_000066 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P3 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/. - c.1042_1043del r.(?) p.(Leu348Valfs*53) Parent #2 - pathogenic (recessive) g.118895981_118895982del g.119025271_119025272del 1042_1043delCT - SLC37A4_000065 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P9 PubMed: Wang 2013 - F - United States - - - - - 1 LOVD
+?/. - c.1042_1043del r.(?) p.(Leu348ValfsTer53) Parent #1 - likely pathogenic (recessive) g.118895981_118895982del g.119025271_119025272del 1042_1043delCT - SLC37A4_000065 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1043T>C r.(?) p.(Leu348Pro) Parent #2 - pathogenic (recessive) g.118895981A>G g.119025271A>G - - SLC37A4_000064 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P10 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 LOVD
+/. - c.1043_1044del r.? p.? Unknown - pathogenic g.118895981_118895982del - SLC37A4(NM_001164277.1):c.1042_1043delCT (p.(Leu348fs)), SLC37A4(NM_001164277.1):c.1042_1043delCT (p.L348Vfs*53) - SLC37A4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1043_1044del r.? p.? Unknown - likely pathogenic g.118895981_118895982del - SLC37A4(NM_001164277.1):c.1042_1043delCT (p.(Leu348fs)), SLC37A4(NM_001164277.1):c.1042_1043delCT (p.L348Vfs*53) - SLC37A4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062C>T r.(?) p.(Asn354=) Unknown - likely benign g.118895962G>A g.119025252G>A SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=) - SLC37A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1062C>T r.(?) p.(Asn354=) Unknown - benign g.118895962G>A g.119025252G>A SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=) - SLC37A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1062C>T r.(?) p.(Asn354=) Unknown - benign g.118895962G>A - SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=) - SLC37A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1063C>T - p.? Parent #1 - benign g.118895962G>A g.119025252G>A - - SLC37A4_000042 5 heterozygous, no homozygous; Clinindb (India) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs61730035 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.1067G>C r.(?) p.(Ser356Thr) Unknown - VUS g.118895957C>G g.119025247C>G SLC37A4(NM_001164277.1):c.1067G>C (p.S356T) - SLC37A4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1067G>C r.(?) p.(Ser356Thr) Unknown - likely benign g.118895957C>G - SLC37A4(NM_001164277.1):c.1067G>C (p.S356T) - SLC37A4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.1099G>A r.(?) p.(Ala367Thr) Unknown - pathogenic g.118895925C>T g.119025215C>T - - SLC37A4_000017 submitted through SIB; ExPASy_025602 PubMed: Galli 1999 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 9 c.1099G>A r.(?) p.(Ala367Thr) Unknown - pathogenic g.118895925C>T g.119025215C>T - - SLC37A4_000017 submitted through SIB; ExPASy_025602 PubMed: Santer 2000 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.1100G>A r.(?) p.? Unknown - likely pathogenic g.118895925C>T - SLC37A4(NM_001164277.2):c.1099G>A (p.(Ala367Thr)) - SLC37A4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.1118C>A r.(?) p.(Ala373Asp) Unknown - pathogenic g.118895906G>T g.119025196G>T - - SLC37A4_000028 submitted through SIB; ExPASy_025603 PubMed: Chou 2002 - - Unknown - - - - - DNA SEQ - - GSD1B - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 10 c.1126G>A r.(?) p.(Gly376Ser) Unknown - pathogenic g.118895785C>T - - - SLC37A4_000024 submitted through SIB; ExPASy_025604 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Veiga-da-Cunha 1999 - - Unknown - - - - - DNA SEQ - - GSD1C - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. 10 c.1130G>A r.(?) p.(Gly377Asp) Parent #2 ACMG likely pathogenic (recessive) g.118895780C>T g.119025070C>T - - SLC37A4_000074 This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). ClinVar contains an entry for this variant (Variation ID: 947435), this missense change has been observed in individuals with clinical features of glycogen storage disease (Invitae). - ClinVar-947435 rs782665493 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing GSD1B 3bINP-097 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
?/. - c.1160A>G r.(?) p.? Unknown - VUS g.118895751T>C - SLC37A4(NM_001164277.1):c.1159A>G (p.(Ile387Val)) - TRAPPC4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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