Full data view for gene LARP7

Information The variants shown are described using the NM_016648.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

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VIP     

Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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-?/. - c.65_67del r.(?) p.(Glu22del) Unknown - likely benign g.113565890_113565892del g.112644734_112644736del LARP7(NM_001267039.4):c.65_67delAAG (p.E22del) - LARP7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94A>T r.(?) p.(Lys32*) Paternal (confirmed) - pathogenic (recessive) g.113565919A>T g.112644763A>T - - LARP7_000055 - PubMed: He 2022 - - Germline yes - - - - DNA SEQ-NG - WES NDD patient PubMed: He 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no China - - - - - 2 Johan den Dunnen
+?/. - c.161A>T r.(?) p.(Asp54Val) Both (homozygous) ACMG likely pathogenic (recessive) g.113565986A>T g.112644830A>T - - LARP7_000052 ACMG PM2_supporting, PP3, PS3_supporting, PM3_supporting, PP1_moderate PubMed: Ambrose 2025 - - Germline yes - - - - DNA SEQ-NG - WES DD FamPat1 PubMed: Ambrose 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Canada - - - - - 2 Johan den Dunnen
+?/. - c.161A>T r.(?) p.(Asp54Val) Both (homozygous) ACMG likely pathogenic (recessive) g.113565986A>T g.112644830A>T - - LARP7_000052 ACMG PM2_supporting, PP3, PS3_supporting, PM3_supporting, PP1_moderate PubMed: Ambrose 2025 - - Germline yes - - - - DNA SEQ - - DD FamPat2 PubMed: Ambrose 2025 sister F - Canada - - - - - 1 Johan den Dunnen
+?/. - c.203-16_227del r.(?) p.? Parent #1 - likely pathogenic (recessive) g.113567495_113567535del g.112646339_112646379del - - LARP7_000016 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED3508.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.213_214dup r.(?) p.(Ser72Tyrfs*10) Paternal (confirmed) - pathogenic (recessive) g.113567517_113567518dup g.112646361_112646362dup - - LARP7_000022 - PubMed: Ling 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID patient PubMed: Ling 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Europe-N - - - - 1 Johan den Dunnen
+/. - c.304-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.113567742A>G g.112646586A>G NM_001267039.2:c.325-2A>G - LARP7_000046 - PubMed: Das 2021 - - Germline yes - - - - DNA SEQ-NG - WES ID FamPat2 PubMed: Das 2021 2-generation family, 2 affected sisters, unaffected parents F no India - - - - - 2 Johan den Dunnen
+/. - c.304-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.113567742A>G g.112646586A>G NM_001267039.2:c.325-2A>G - LARP7_000046 - PubMed: Das 2021 - - Germline yes - - - - DNA SEQ - - ID FamPat3 PubMed: Das 2021 sister F no India - - - - - 1 Johan den Dunnen
-?/. - c.320C>T r.(?) p.(Thr107Ile) Unknown - likely benign g.113567760C>T g.112646604C>T LARP7(NM_001267039.1):c.341C>T (p.T114I) - LARP7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.349del r.(?) p.(Glu117LysfsTer38) Paternal (confirmed) - pathogenic (recessive) g.113567789del g.112646633del NM_001267039:c.370delG - LARP7_000041 - PubMed: Dateki 2018 - - Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Dateki 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. 5 c.420G>A r.(?) p.(Trp140*) Unknown ACMG likely pathogenic g.113567979G>A g.112646823G>A - - LARP7_000017 - - - - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ID - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.429_430del r.(?) p.(Arg143Serfs*17) Paternal (confirmed) - pathogenic (recessive) g.113567988_113567989del g.112646832_112646833del 429_430delAG - LARP7_000053 - PubMed: Yuan 2023 - - Germline - - - - - DNA SEQ-NG - WES NDD patient PubMed: Yuan 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents - no China - - - - - 1 Johan den Dunnen
+/. - c.502_552del r.(502_552del) p.(Ala169_Phe185del) Both (homozygous) - pathogenic (recessive) g.113568061_113568111del g.112646905_112646955del - - LARP7_000043 variant correct? (deletion ends exactly at splice junction) Journal: Bajafar 2019 - - Germline yes - - - - DNA SEQ-NG - WES ? family Journal: Bajafar 2019 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.503_504dup r.(?) p.(Ala169Leufs*37) Both (homozygous) - pathogenic (recessive) g.113568062_113568063dup g.112646906_112646907dup NM_001267039.1:c.524_525insTT - LARP7_000024 - PubMed: Imbert-Bouteille 2019 SCV000743091 - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat1 PubMed: Imbert-Bouteille 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Algeria - - - - - 2 Johan den Dunnen
+/. - c.503_504dup r.(?) p.(Ala169Leufs*37) Both (homozygous) - pathogenic (recessive) g.113568062_113568063dup g.112646906_112646907dup NM_001267039.1:c.524_525insTT - LARP7_000024 - PubMed: Imbert-Bouteille 2019 SCV000743091 - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat2 PubMed: Imbert-Bouteille 2019 sister F yes Algeria - - - - - 1 Johan den Dunnen
+/. - c.606_607del r.(?) p.(Lys202Asnfs*5) Paternal (confirmed) - pathogenic (recessive) g.113568243_113568244del g.112647087_112647088del 604_605delAA - LARP7_000057 no variant 2nd chromosome PubMed: Thouqan 2025 - - Germline - - - - - DNA SEQ-NG - WES ID patient PubMed: Thouqan 2025 2-generation family, 1 affected, unaffected heterozygous carrier parent M yes Palestine - - - - - 2 Johan den Dunnen
+/. 6_6i c.620_646+25del r.(553_646del) p.(Phe185Lysfs*13) Maternal (confirmed) - pathogenic (recessive) g.113568257_113568308del g.112647101_112647152del NM_001267039:c.641_667+25del - LARP7_000042 - PubMed: Dateki 2018 - - Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Dateki 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. 6i c.646+3_646+6del r.spl? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.113568286_113568289del g.112647130_112647133del - - LARP7_000020 ACMG: PS1-supporting, PM2-supporting, PM3-moderate, PP1-moderate, PP3-supporting - VCV000449740.7 - Germline yes - - - - DNA SEQ-NG-I Blood - ALAZS 349118 - - M yes Afghanistan - - - - - 1 Andreas Laner
+?/. - c.646+3_646+6del r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.113568286_113568289del g.112647130_112647133del 646+3_646+6delGTGA - LARP7_000020 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam2Pat3 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - 1 Johan den Dunnen
+?/. - c.646+3_646+6del r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.113568286_113568289del g.112647130_112647133del 646+3_646+6delGTGA - LARP7_000020 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam4Pat5 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - 1 Johan den Dunnen
+?/. - c.646+3_646+6del r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.113568286_113568289del g.112647130_112647133del 646+3_646+6delGTGA - LARP7_000020 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam6Pat8 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - 2 Johan den Dunnen
+?/. - c.646+5G>C r.spl? p.? Parent #2 - likely pathogenic (recessive) g.113568288G>C g.112647132G>C - - LARP7_000047 - PubMed: Wojcik 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? patient PubMed: Wojcik 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - 1 Johan den Dunnen
-?/. - c.647-8T>C r.(=) p.(=) Unknown - likely benign g.113568347T>C - LARP7(NM_001267039.1):c.668-8T>C - LARP7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>C r.(?) p.(Glu217Asp) Unknown - likely benign g.113568359G>C g.112647203G>C LARP7(NM_001267039.4):c.651G>C (p.E217D) - LARP7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.651_655del r.(?) p.(Lys219Glufs*30) Maternal (confirmed) - pathogenic (recessive) g.113568359_113568363del g.112647203_112647207del - - LARP7_000023 - PubMed: Ling 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID patient PubMed: Ling 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Europe-N - - - - 1 Johan den Dunnen
+/. - c.651_655del r.(?) p.(Lys219Glufs*30) Both (homozygous) - pathogenic (recessive) g.113568359_113568363del g.112647203_112647207del 651_655delGAAGA - LARP7_000023 ACMG PVS1, PM2_supporting, PM3_supporting, PP5 PubMed: Ambrose 2025 - - Germline - - - - - DNA SEQ-NG - WES DD Pat3 PubMed: Ambrose 2025 2-generation family, 1 affected, unaffected parents M - Canada - - - - - 1 Johan den Dunnen
?/. - c.680G>A r.(?) p.(Arg227Gln) Unknown - VUS g.113568388G>A g.112647232G>A LARP7(NM_001267039.4):c.680G>A (p.R227Q) - LARP7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.689del r.(?) p.(Lys230ArgfsTer22) Both (homozygous) - likely pathogenic (recessive) g.113568397del g.112647241del - - LARP7_000019 variant, linked to Alazami syndrome, may contribute to the intrafamilial phenotypic heterogeneity observed PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.689del r.(?) p.(Lys230ArgfsTer22) Both (homozygous) - likely pathogenic (recessive) g.113568397del g.112647241del - - LARP7_000019 variant, linked to Alazami syndrome, may contribute to the intrafamilial phenotypic heterogeneity observed PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII2 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.689del r.(?) p.(Lys230ArgfsTer22) Parent #1 - likely pathogenic (recessive) g.113568397del g.112647241del - - LARP7_000019 - PubMed: Barish 2024, Journal: Barish 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam8PatII3 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.690_699delinsTCCAAGCCAATAGACAATATATCCAAGCC r.(?) p.(Lys230AsnfsTer5) Paternal (confirmed) - pathogenic (recessive) g.113568398_113568407delinsTCCAAGCCAATAGACAATATATCCAAGCC g.112647242_112647251delinsTCCAAGCCAATAGACAATATATCCAAGCC 690_699delins27 (Lys230AsnfsTer5) - LARP7_000058 - PubMed: Soengas-Gonda 2023 - - Germline - - - - - DNA SEQ-NG - WES ? FamAPatII2 PubMed: Soengas-Gonda 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - 1 Johan den Dunnen
+/. - c.690_699delinsTCCAAGCCAATAGACAATATATCCAAGCC r.(?) p.(Lys230Asnfs*5) Both (homozygous) - pathogenic (recessive) g.113568398_113568407delinsTCCAAGCCAATAGACAATATATCCAAGCC g.112647242_112647251delinsTCCAAGCCAATAGACAATATATCCAAGCC - - LARP7_000058 - PubMed: Soengas-Gonda 2023 - - Germline yes - - - - DNA SEQ-NG - WES DD FamBPatII1 PubMed: Soengas-Gonda 2023 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Spain - - - - - 2 Johan den Dunnen
+/. - c.690_699delinsTCCAAGCCAATAGACAATATATCCAAGCC r.(?) p.(Lys230Asnfs*5) Both (homozygous) - pathogenic (recessive) g.113568398_113568407delinsTCCAAGCCAATAGACAATATATCCAAGCC g.112647242_112647251delinsTCCAAGCCAATAGACAATATATCCAAGCC - - LARP7_000058 - PubMed: Soengas-Gonda 2023 - - Germline yes - - - - DNA SEQ - - DD FamBPatII2 PubMed: Soengas-Gonda 2023 sister F no Spain - - - - - 1 Johan den Dunnen
+/. - c.697_698del r.(?) p.(Asn233Tyrfs*17) Unknown - pathogenic g.113568405_113568406del - - - LARP7_000006 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.715_717del r.(?) p.(Glu239del) Unknown - VUS g.113568423_113568425del g.112647267_112647269del LARP7(NM_001267039.1):c.731_733del (p.(Glu246del)), LARP7(NM_001267039.1):c.736_738delGAA (p.E246del) - LARP7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715_717del r.(?) p.(Glu239del) Unknown - VUS g.113568423_113568425del g.112647267_112647269del LARP7(NM_001267039.1):c.731_733del (p.(Glu246del)), LARP7(NM_001267039.1):c.736_738delGAA (p.E246del) - LARP7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728_729dup r.(?) p.(Ser244Glnfs*9) Both (homozygous) - pathogenic (recessive) g.113568436_113568437dup g.112647280_112647281dup - - LARP7_000051 - PubMed: Fauntleroy-Love 2023 - - Germline - - - - - DNA arrayCGH, SEQ-NG - WES ? patient PubMed: Fauntleroy-Love 2023 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.756_757del r.(?) p.(Arg253IlefsTer6) Both (homozygous) - pathogenic (recessive) g.113568464_113568465del g.112647308_112647309del - - LARP7_000040 - PubMed: Holohan 2016 - - Germline - - - - - DNA SEQ-NG - WGS ? patient PubMed: Holohan 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - - - - 1 Johan den Dunnen
-?/. - c.770C>A r.(?) p.(Thr257Lys) Unknown - likely benign g.113568478C>A g.112647322C>A LARP7(NM_001267039.1):c.791C>A (p.T264K) - LARP7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782_783del r.(?) p.(Ser261Ter) Unknown - pathogenic g.113568490_113568491del g.112647334_112647335del LARP7(NM_001267039.4):c.782_783delCT (p.S261*) - LARP7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.802_1142+267del r.? p.? Both (homozygous) - pathogenic (recessive) g.113568510_113569257del g.112647354_112648101del c.802_1142+267del (Lys278*/c.832A>T) - LARP7_000044 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat8 PubMed: Elmas 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.802_1142+267del r.? p.? Both (homozygous) - pathogenic (recessive) g.113568510_113569257del g.112647354_112648101del c.802_1142+267del (Lys278*/c.832A>T) - LARP7_000044 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat9 PubMed: Elmas 2019 sister F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.823_850del r.(?) p.(Lys275Hisfs*23) Both (homozygous) - pathogenic (recessive) g.113568531_113568558del g.112647375_112647402del NM_001267039.2:c.844_871del - LARP7_000045 - PubMed: Das 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Das 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Johan den Dunnen
+/. - c.(827dup) r.(?) p.(Lys277Glufs*7) Both (homozygous) - likely pathogenic (recessive) g.113568535dup g.112647379dup chr4:113787985-113787986ins1, K276fs - LARP7_000021 candidate disease gene PubMed: Najmabadi 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID G030 PubMed: Najmabadi 2011 family, 2 affected, unaffected heterozygous carrier parents - yes Iran - - - - - 2 Johan den Dunnen
+/. - c.832A>T r.(?) p.(Lys278*) Both (homozygous) - pathogenic g.113568540A>T g.112647384A>T NM_016648: c.A832T; p.K278X - LARP7_000002 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5283 PubMed: Karaca 2015 - - - - - - - family structure in paper - 2 Johan den Dunnen
+/. 7 c.834dup r.(?) p.(Arg279Thrfs*5) Unknown ACMG pathogenic g.113568542dup g.112647386dup - - LARP7_000018 - - ClinVar-504211 rs763929099 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ID - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.834dup r.(?) p.(Arg279ThrfsTer5) Parent #1 - pathogenic (recessive) g.113568542dup g.112647386dup 834dupA - LARP7_000018 - PubMed: Wojcik 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? patient PubMed: Wojcik 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - 1 Johan den Dunnen
+?/. - c.834dup r.(?) p.(Arg279Thrfs*5) Parent #2 - likely pathogenic (recessive) g.113568542dup g.112647386dup NM_001267039.1:c.855dup - LARP7_000018 - PubMed: Patalan 2022 - - Germline - - - - - DNA SEQ-NG - WES ID, PKU patient PubMed: Patalan 2022 2-generation family, 1 affected, unaffected parents M no Poland - - - - - 1 Johan den Dunnen
+/. - c.834dup r.(?) p.(Arg279ThrfsTer5) Both (homozygous) - pathogenic (recessive) g.113568542dup g.112647386dup 855dupA - LARP7_000018 - PubMed: Gana 2020 - - Germline yes - - - - DNA SEQ-NG - wes SLOS family PubMed: Gana 2020 brother M - Romania - - - - - 1 Johan den Dunnen
+/. - c.834dup r.(?) p.(Arg279ThrfsTer5) Both (homozygous) - pathogenic (recessive) g.113568542dup g.112647386dup 855dupA - LARP7_000018 - PubMed: Gana 2020 - - Germline yes - - - - DNA SEQ-NG - WES SLOS family PubMed: Gana 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Romania - - - - - 2 Johan den Dunnen
+/. - c.834dup r.(?) p.(Arg279Thrfs*5) Maternal (confirmed) - pathogenic (recessive) g.113568542dup g.112647386dup - - LARP7_000018 - PubMed: Soengas-Gonda 2023 - - Germline - - - - - DNA SEQ-NG - WES ? FamAPatII2 PubMed: Soengas-Gonda 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - 1 Johan den Dunnen
?/. - c.842_852del r.(?) p.(Arg281IlefsTer2) Unknown - VUS g.113568550_113568560del g.112647394_112647404del LARP7(NM_001267039.1):c.863_873delGAGTTGAAGCA (p.R288Ifs*2) - LARP7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892_895dup r.(?) p.(Ser299Lysfs*4) Paternal (confirmed) - pathogenic (dominant) g.113568600_113568603dup g.112647444_112647447dup 892_895dupAGCA - LARP7_000048 - PubMed: Ivanovski 2020 - - Germline - - - - - DNA SEQ-NG - WES ALAZS patient PubMed: Ivanovski 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - 1 Johan den Dunnen
?/. - c.919G>A r.(?) p.(Ala307Thr) Unknown - VUS g.113568627G>A g.112647471G>A LARP7(NM_001267039.1):c.940G>A (p.(Ala314Thr)) - LARP7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.925C>T r.(?) p.(Arg309Ter) Unknown - pathogenic g.113568633C>T g.112647477C>T LARP7(NM_001267039.1):c.946C>T (p.R316*) - LARP7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.925C>T r.(?) p.(Arg309*) Both (homozygous) - pathogenic (recessive) g.113568633C>T g.112647477C>T C925T - LARP7_000028 - PubMed: Kazemi 2020 - - Germline - - - - - DNA SEQ-NG - WES ID Pat1 PubMed: Kazemi 2020 2-generation family, 1 affected, unaffected parents - yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.978A>T r.(?) p.(Glu326Asp) Unknown - likely benign g.113568686A>T g.112647530A>T LARP7(NM_001267039.1):c.999A>T (p.E333D) - LARP7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998-1G>A r.spl? p.? Unknown - VUS g.113568845G>A - LARP7(NM_001267039.1):c.1019-1G>A - LARP7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001T>C r.(?) p.(Ile334Thr) Unknown - likely benign g.113568849T>C g.112647693T>C LARP7(NM_001267039.1):c.1022T>C (p.I341T) - LARP7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1013C>T r.(?) p.(Thr338Ile) Unknown - likely benign g.113568861C>T g.112647705C>T LARP7(NM_001267039.1):c.1034C>T (p.T345I) - LARP7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1024_1030dup r.1024_1030dup p.Thr344Lysfs*9 Both (homozygous) - pathogenic (recessive) g.113568872_113568878dup g.112647716_112647722dup 1024_1030dupAAGGATA - LARP7_000001 - PubMed: Alazami 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - SPD family PubMed: Alazami 2012 5-generation family, 10 affected (4F, 6M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 10 Anas M Alazami
+/. - c.1024_1030dup r.(?) p.(Thr344Lysfs*9) Both (homozygous) ACMG pathogenic g.113568872_113568878dup g.112647716_112647722dup - - LARP7_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ALAZS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1024_1030dup r.(?) p.(Thr344Lysfs*9) Both (homozygous) - pathogenic (recessive) g.113568872_113568878dup g.112647716_112647722dup 1045_1051dupAAGGATA - LARP7_000001 - PubMed: Hollink 2016 - - Germline - - - - - DNA SEQ-NG - WES ? PatB PubMed: Hollink 2016 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1056_1057del r.(?) p.(Leu353Glufs*7) Maternal (confirmed) - pathogenic (recessive) g.113568904_113568905del g.112647748_112647749del 1056_1057delCT - LARP7_000054 - PubMed: Yuan 2023 - - Germline - - - - - DNA SEQ-NG - WES NDD patient PubMed: Yuan 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents - no China - - - - - 1 Johan den Dunnen
+/. - c.1068_1069del r.(?) p.(Arg357GlufsTer3) Unknown - pathogenic g.113568916_113568917del g.112647760_112647761del LARP7(NM_001267039.4):c.1068_1069delAA (p.R357Efs*3) - LARP7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1087_1091del r.(?) p.(His363Argfs*4) Maternal (confirmed) - pathogenic (recessive) g.113568935_113568939del g.112647779_112647783del 1087_1091delCATAA - LARP7_000049 - PubMed: Ivanovski 2020 - - Germline - - - - - DNA SEQ-NG - WES ALAZS patient PubMed: Ivanovski 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - 1 Johan den Dunnen
+?/. - c.1091_1094del r.(?) p.(Lys364Argfs*12) Unknown - likely pathogenic g.113568938_113568941del - - - LARP7_000007 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. 10 c.1091_1094del r.(?) p.(Lys364ArgfsTer12) Parent #2 - likely pathogenic (recessive) g.113568939_113568942del g.112647783_112647786del - - LARP7_000007 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED3508.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1091_1094del r.(?) p.(Lys364Argfs*12) Both (homozygous) - pathogenic (recessive) g.113568939_113568942del g.112647783_112647786del - - LARP7_000007 - PubMed: Hollink 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ID PatA PubMed: Hollink 2016 2-generation family, 1 affected, unaffected parents M no Netherlands - - - - - 1 Johan den Dunnen
+/. 8 c.1091_1094del r.(?) p.(Lys364Argfs*12) Maternal (confirmed) ACMG pathogenic (recessive) g.113568939_113568942del g.112647783_112647786del 1091_1094delAAGA - LARP7_000007 ACMG PVS1, PS1, PM2, PM3 PubMed: Buisine-Sbraggia 2025 - rs775657157 Germline - - - - - DNA SEQ-NG - WES DD patient PubMed: Buisine-Sbraggia 2025 2-generation family, 1 affected, unaffected carrier mother M no France - - - - - 1 Johan den Dunnen
+/. 8 c.1091_1094del r.(?) p.(Lys364Argfs*12) Maternal (confirmed) - pathogenic (recessive) g.113568939_113568942del g.112647783_112647786del 1091_1094delAAGA - LARP7_000007 - PubMed: Buisine-Sbraggia 2025 - - Uniparental disomy, maternal allele - - - - - DNA SEQ-NG - WES DD patient PubMed: Buisine-Sbraggia 2025 2-generation family, 1 affected, unaffected carrier mother M no France - - - - - 1 Johan den Dunnen
+?/. - c.1097_1098del r.(?) p.(Arg366Thrfs*2) Both (homozygous) - likely pathogenic (recessive) g.113568945_113568946del g.112647789_112647790del 1097_1098delAG - LARP7_000031 - - - rs566464249 Germline yes - - - - DNA SEQ-NG - - ? FamPatII1 PubMed: Palumbo 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - 11y - - - 1 Pietro Palumbo
+/. - c.1141A>G r.(?) p.(Lys381Glu) Maternal (confirmed) - pathogenic (recessive) g.113568989A>G g.112647833A>G - - LARP7_000056 - PubMed: He 2022 - - Germline yes - - - - DNA SEQ-NG - WES NDD patient PubMed: He 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no China - - - - - 2 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Unknown - pathogenic g.113570721T>A g.112649565T>A - - LARP7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Both (homozygous) - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam3Pat4 PubMed: Al-Hinai 2022 family, 1 affected F - Oman - - - - - 1 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Parent #1 - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam5Pat6 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - 2 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Parent #1 - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam5Pat7 PubMed: Al-Hinai 2022 sib M - Oman - - - - - 1 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Both (homozygous) - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam6Pat9 PubMed: Al-Hinai 2022 sib M - Oman - - - - - 1 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Both (homozygous) - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam7Pat10 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - 1 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Both (homozygous) - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam8Pat11 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - 2 Johan den Dunnen
+/. - c.1173T>A r.(?) p.(Tyr391Ter) Both (homozygous) - pathogenic (recessive) g.113570721T>A g.112649565T>A - - LARP7_000025 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam8Pat12 PubMed: Al-Hinai 2022 sib F - Oman - - - - - 1 Johan den Dunnen
?/. - c.1468G>A r.(?) p.(Asp490Asn) Unknown - VUS g.113574284G>A - LARP7(NM_001267039.1):c.1489G>A (p.D497N) - LARP7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1576+17G>A r.(=) p.(=) Unknown - likely benign g.113574409G>A g.112653253G>A LARP7(NM_001267039.4):c.1576+17G>A - LARP7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1653_1654del r.(?) p.(Gly553HisfsTer2) Both (homozygous) - pathogenic (recessive) g.113575300_113575301del g.112654144_112654145del 1653_1654delAA - LARP7_000030 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam1Pat1 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - 2 Johan den Dunnen
+/. - c.1653_1654del r.(?) p.(Gly553HisfsTer2) Both (homozygous) - pathogenic (recessive) g.113575300_113575301del g.112654144_112654145del 1653_1654delAA - LARP7_000030 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam1Pat2 PubMed: Al-Hinai 2022 sib M - Oman - - - - - 1 Johan den Dunnen
+/. - c.1653_1654del r.(?) p.(Gly553HisfsTer2) Parent #2 - pathogenic (recessive) g.113575300_113575301del g.112654144_112654145del 1653_1654delAA - LARP7_000030 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam5Pat6 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - 2 Johan den Dunnen
+/. - c.1653_1654del r.(?) p.(Gly553HisfsTer2) Parent #2 - pathogenic (recessive) g.113575300_113575301del g.112654144_112654145del 1653_1654delAA - LARP7_000030 - PubMed: Al-Hinai 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALAZS Fam5Pat7 PubMed: Al-Hinai 2022 sib M - Oman - - - - - 1 Johan den Dunnen
+/. 12i c.1668+1G>C r.1577_1668del p.GLy526ValfsTer6 Both (homozygous) - pathogenic (recessive) g.113575316G>C g.112654160G>C NM_001267039:c.1689+1G>C - LARP7_000015 - Journal: Hosseini 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ID FamPatIV1 Journal: Hosseini 2019 4-generation family, 2 affected sisters, unaffected heterozygous carrier first-cousin parents F yes Iran - - - - - 2 Johan den Dunnen
+/. 12i c.1668+1G>C r.1577_1668del p.GLy526ValfsTer6 Both (homozygous) - likely pathogenic (recessive) g.113575316G>C g.112654160G>C NM_001267039:c.1689+1G>C - LARP7_000015 - Journal: Hosseini 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ID FamPatIV2 Journal: Hosseini 2019 sister F yes Iran - - - - - 1 Johan den Dunnen
+?/. 12i_13 c.1669-1_1671del r.spl p.? Parent #1 - likely pathogenic (recessive) g.113578402_113578405del g.112657246_112657249del NM_001267039.1:c.1690-1_1692del - LARP7_000050 - PubMed: Patalan 2022 - - Germline - - - - - DNA SEQ-NG - WES ID, PKU patient PubMed: Patalan 2022 2-generation family, 1 affected, unaffected parents M no Poland - - - - - 1 Johan den Dunnen
+/. 12i_13 c.1669-1_1671del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.113578402_113578405del g.112657246_112657249del - - LARP7_000050 - PubMed: Kazemi 2020 - - Germline - - - - - DNA SEQ-NG - WES ID Pat2 PubMed: Kazemi 2020 2-generation family, 1 affected, unaffected parents - yes Iran - - - - - 1 Johan den Dunnen
+/. - c.1689+1G>C r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.113575316G>C g.112654160G>C NM_001267039:c.1689+1G>C - LARP7_000015 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600217 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
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