Full data view for gene GDF1

Information The variants shown are described using the NM_001492.4 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

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Owner     
?/. - c.-1034G>A r.(?) p.(=) Unknown - VUS g.19004345C>T - CERS1(NM_021267.4):c.289G>A (p.A97T) - GDF1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-913-10C>T r.(=) p.(=) Unknown - likely benign g.18995086G>A - CERS1(NM_021267.4):c.410-10C>T, GDF1(NM_001492.5):c.-913-10C>T - GDF1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-886G>A r.(?) p.(=) Unknown - VUS g.18995049C>T g.18884240C>T CERS1(NM_021267.3):c.437G>A (p.(Arg146Gln)) - GDF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-873C>T r.(?) p.(=) Unknown - likely benign g.18995036G>A - CERS1(NM_021267.5):c.450C>T (p.A150=) - GDF1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-733G>A r.(?) p.(=) Unknown - VUS g.18994896C>T - CERS1(NM_021267.5):c.590G>A (p.(Arg197Gln)) - GDF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-660C>T r.(?) p.(=) Unknown - likely benign g.18991172G>A - CERS1(NM_021267.4):c.663C>T (p.L221=) - GDF1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-638G>A r.(?) p.(=) Unknown - VUS g.18991150C>T g.18880341C>T CERS1(NM_021267.3):c.685G>A (p.(Gly229Ser)), GDF1(NM_001492.6):c.-638G>A - GDF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-638G>A r.(?) p.(=) Unknown - VUS g.18991150C>T - CERS1(NM_021267.3):c.685G>A (p.(Gly229Ser)), GDF1(NM_001492.6):c.-638G>A - GDF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-582C>T r.(?) p.(=) Unknown - likely benign g.18991094G>A g.18880285G>A GDF1(NM_001492.6):c.-582C>T - GDF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-582C>T r.(?) p.(=) Unknown - VUS g.18991094G>A g.18880285G>A GDF1(NM_001492.6):c.-582C>T - GDF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-571+101G>A r.(=) p.(=) Both (homozygous) - VUS g.18990982C>T g.18880173C>T - - GDF1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.-536G>A r.(?) p.(=) Unknown - likely benign g.18990163C>T g.18879354C>T - - GDF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-478T>A r.(=) p.(=) Unknown ACMG VUS g.18990105A>T - T845A (F282Y) - GDF1_000057 - PubMed: Halvardson 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam14 PubMed: Halvardson 2016 - F - Sweden - - - - - 1 Johan den Dunnen
-?/. - c.-425C>T r.(?) p.(=) Unknown - likely benign g.18990052G>A g.18879243G>A CERS1(NM_021267.3):c.898C>T (p.(=)), CERS1(NM_021267.4):c.898C>T (p.L300=) - GDF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-425C>T r.(?) p.(=) Unknown - likely benign g.18990052G>A - CERS1(NM_021267.3):c.898C>T (p.(=)), CERS1(NM_021267.4):c.898C>T (p.L300=) - GDF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-312-5C>T r.spl? p.? Unknown - likely benign g.18981433G>A - GDF1(NM_001492.6):c.-312-5C>T - GDF1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-119G>T r.(?) p.(=) Unknown - benign g.18981235C>A g.18870426C>A - - GDF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-56C>T r.(?) p.(=) Unknown - VUS g.18981172G>A g.18870363G>A - - GDF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20G>A r.(?) p.(Gly7Asp) Unknown - VUS g.18981097C>T - GDF1(NM_001492.6):c.20G>A (p.(Gly7Asp)) - GDF1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55C>G r.(?) p.(Leu19Val) Unknown - likely benign g.18981062G>C g.18870253G>C GDF1(NM_001492.6):c.55C>G (p.L19V) - GDF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55C>G r.(?) p.(Leu19Val) Unknown - likely benign g.18981062G>C - GDF1(NM_001492.6):c.55C>G (p.L19V) - GDF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Pro53=) Unknown - likely benign g.18980958G>A - GDF1(NM_001492.5):c.159C>T (p.P53=) - GDF1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168G>A r.(?) p.(Arg56=) Unknown - likely benign g.18980949C>T g.18870140C>T - - GDF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181G>A r.(?) p.(Val61Ile) Unknown - likely benign g.18980936C>T g.18870127C>T - - GDF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>T r.(?) p.(Arg64Cys) Unknown - VUS g.18980927G>A - GDF1(NM_001492.4):c.190C>T (p.(Arg64Cys)) - GDF1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214dup r.(?) p.(Gln72Profs*55) Unknown - VUS g.18980907dup - GDF1(NM_001492.6):c.214dup (p.(Gln72Profs*55)) - GDF1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299A>G r.(?) p.(Asn100Ser) Unknown - VUS g.18980818T>C - - - GDF1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.317C>T r.(?) p.(Pro106Leu) Unknown - likely benign g.18980800G>A - GDF1(NM_001492.5):c.317C>T (p.P106L) - GDF1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.326-14T>C r.(=) p.(=) Unknown - benign g.18980213A>G g.18869404A>G CERS1(NM_021267.5):c.*595-14T>C, GDF1(NM_001492.5):c.326-14T>C, GDF1(NM_001492.6):c.326-14T>C - GDF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.326-14T>C r.(=) p.(=) Unknown - benign g.18980213A>G g.18869404A>G CERS1(NM_021267.5):c.*595-14T>C, GDF1(NM_001492.5):c.326-14T>C, GDF1(NM_001492.6):c.326-14T>C - GDF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.326-14T>C r.(=) p.(=) Unknown - benign g.18980213A>G g.18869404A>G CERS1(NM_021267.5):c.*595-14T>C, GDF1(NM_001492.5):c.326-14T>C, GDF1(NM_001492.6):c.326-14T>C - GDF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.326-14T>C r.(=) p.(=) Unknown - benign g.18980213A>G g.18869404A>G CERS1(NM_021267.5):c.*595-14T>C, GDF1(NM_001492.5):c.326-14T>C, GDF1(NM_001492.6):c.326-14T>C - GDF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353C>T r.(?) p.(Ala118Val) Unknown - benign g.18980172G>A g.18869363G>A CERS1(NM_021267.5):c.*622C>T, GDF1(NM_001492.5):c.353C>T (p.A118V), GDF1(NM_001492.6):c.353C>T (p.A118V) - GDF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353C>T r.(?) p.(Ala118Val) Unknown - benign g.18980172G>A g.18869363G>A CERS1(NM_021267.5):c.*622C>T, GDF1(NM_001492.5):c.353C>T (p.A118V), GDF1(NM_001492.6):c.353C>T (p.A118V) - GDF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353C>T r.(?) p.(Ala118Val) Unknown - benign g.18980172G>A g.18869363G>A CERS1(NM_021267.5):c.*622C>T, GDF1(NM_001492.5):c.353C>T (p.A118V), GDF1(NM_001492.6):c.353C>T (p.A118V) - GDF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353C>T r.(?) p.(Ala118Val) Unknown - benign g.18980172G>A g.18869363G>A CERS1(NM_021267.5):c.*622C>T, GDF1(NM_001492.5):c.353C>T (p.A118V), GDF1(NM_001492.6):c.353C>T (p.A118V) - GDF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354C>T r.(?) p.(Ala118=) Unknown - likely benign g.18980171G>A g.18869362G>A GDF1(NM_001492.5):c.354C>T (p.A118=) - GDF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357G>A r.(?) p.(Ser119=) Unknown - likely benign g.18980168C>T g.18869359C>T - - GDF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388G>A r.(?) p.(Val130Ile) Unknown - likely benign g.18980137C>T g.18869328C>T GDF1(NM_001492.4):c.388G>A (p.(Val130Ile)) - GDF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.393C>A r.(?) p.(Phe131Leu) Unknown - VUS g.18980132G>T - GDF1(NM_001492.6):c.393C>A (p.F131L) - GDF1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.465_470del r.(?) p.(Ala157_Ala158del) Unknown - VUS g.18980066_18980071del g.18869257_18869262del GDF1(NM_001492.6):c.465_470delGGCGGC (p.A157_A158del) - GDF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.468_470dup r.(?) p.(Ala158dup) Unknown - VUS g.18980069_18980071dup g.18869260_18869262dup GDF1(NM_001492.4):c.470_471insGGC (p.(Ala158dup)), GDF1(NM_001492.5):c.468_470dupGGC (p.A158dup), GDF1(NM_001492.6):c.468_470dupGGC (p.A158dup) - GDF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468_470dup r.(?) p.(Ala158dup) Unknown - benign g.18980069_18980071dup g.18869260_18869262dup GDF1(NM_001492.4):c.470_471insGGC (p.(Ala158dup)), GDF1(NM_001492.5):c.468_470dupGGC (p.A158dup), GDF1(NM_001492.6):c.468_470dupGGC (p.A158dup) - GDF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468_470dup r.(?) p.(Ala158dup) Unknown - likely benign g.18980069_18980071dup g.18869260_18869262dup GDF1(NM_001492.4):c.470_471insGGC (p.(Ala158dup)), GDF1(NM_001492.5):c.468_470dupGGC (p.A158dup), GDF1(NM_001492.6):c.468_470dupGGC (p.A158dup) - GDF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468_470dup r.(?) p.(Ala158dup) Unknown - benign g.18980069_18980071dup g.18869260_18869262dup GDF1(NM_001492.4):c.470_471insGGC (p.(Ala158dup)), GDF1(NM_001492.5):c.468_470dupGGC (p.A158dup), GDF1(NM_001492.6):c.468_470dupGGC (p.A158dup) - GDF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468_470dup r.(?) p.(Ala158dup) Unknown - benign g.18980055_18980057dup g.18869246_18869248dup - - GDF1_000028 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.120 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.469_470insGGC r.(?) p.(Ala157delinsGlyPro) Unknown - likely benign g.18980055_18980056insGCC g.18869246_18869247insGCC - - GDF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.485G>A r.(?) p.(Gly162Asp) Unknown - likely benign g.18980040C>T g.18869231C>T - - GDF1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549C>T r.(?) p.(Leu183=) Unknown - likely benign g.18979976G>A g.18869167G>A - - GDF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572G>C r.(?) p.(Gly191Ala) Unknown - likely benign g.18979953C>G g.18869144C>G - - GDF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601G>C r.(?) p.(Ala201Pro) Unknown - likely benign g.18979924C>G g.18869115C>G - - GDF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608G>A r.(?) p.(Trp203Ter) Unknown - pathogenic g.18979917C>T g.18869108C>T GDF1(NM_001492.5):c.608G>A (p.W203*), GDF1(NM_001492.6):c.608G>A (p.W203*) - GDF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608G>A r.(?) p.(Trp203Ter) Unknown - pathogenic g.18979917C>T g.18869108C>T GDF1(NM_001492.5):c.608G>A (p.W203*), GDF1(NM_001492.6):c.608G>A (p.W203*) - GDF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608G>A r.(?) p.(Trp203Ter) Unknown - pathogenic g.18979917C>T - GDF1(NM_001492.5):c.608G>A (p.W203*), GDF1(NM_001492.6):c.608G>A (p.W203*) - GDF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.627G>A r.(627g>a) p.(Trp209Ter) Maternal (confirmed) - pathogenic g.18979898C>T g.18869089C>T - - GDF1_000050 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG-I Blood Panel of 478 genes CHD, HTX Pt7121 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 1 Patrice Bouvagnet
?/. - c.628C>T r.(?) p.(Pro210Ser) Unknown - VUS g.18979897G>A g.18869088G>A GDF1(NM_001492.5):c.628C>T (p.P210S) - GDF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628C>T r.(?) p.(Pro210Ser) Unknown - likely benign g.18979897G>A g.18869088G>A GDF1(NM_001492.5):c.628C>T (p.P210S) - GDF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.681C>A r.(?) p.(Cys227Ter) Unknown - pathogenic g.18979844G>T g.18869035G>T GDF1(NM_001492.4):c.681C>A (p.(Cys227*)), GDF1(NM_001492.5):c.681C>A (p.C227*), GDF1(NM_001492.6):c.681C>A (p.C227*) - GDF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.681C>A r.(?) p.(Cys227*) Unknown - likely pathogenic g.18979844G>T g.18869035G>T - - GDF1_000002 Maternally inherited - - - Germline - - - - - DNA SEQ-NG - - ID Jansen et al. Patient 10 Jansen, submitted - F - - - - - - - 1 Lisenka Vissers
+/. - c.681C>A r.(?) p.(Cys227Ter) Unknown - pathogenic g.18979844G>T g.18869035G>T GDF1(NM_001492.4):c.681C>A (p.(Cys227*)), GDF1(NM_001492.5):c.681C>A (p.C227*), GDF1(NM_001492.6):c.681C>A (p.C227*) - GDF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.681C>A r.(?) p.(Cys227Ter) Unknown - pathogenic g.18979844G>T g.18869035G>T GDF1(NM_001492.4):c.681C>A (p.(Cys227*)), GDF1(NM_001492.5):c.681C>A (p.C227*), GDF1(NM_001492.6):c.681C>A (p.C227*) - GDF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.681C>A r.(?) p.(Cys227*) Parent #1 - pathogenic g.18979844G>T g.18869035G>T - - GDF1_000002 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434422 Germline - 4/2755 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.681C>A r.(?) p.(Cys227Ter) Unknown - pathogenic g.18979844G>T - GDF1(NM_001492.4):c.681C>A (p.(Cys227*)), GDF1(NM_001492.5):c.681C>A (p.C227*), GDF1(NM_001492.6):c.681C>A (p.C227*) - GDF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.681C>A r.(?) p.(Cys227Ter) Unknown - pathogenic g.18979844G>T - GDF1(NM_001492.4):c.681C>A (p.(Cys227*)), GDF1(NM_001492.5):c.681C>A (p.C227*), GDF1(NM_001492.6):c.681C>A (p.C227*) - GDF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715A>C r.(?) p.(Thr239Pro) Unknown - VUS g.18979810T>G - GDF1(NM_001492.6):c.715A>C (p.(Thr239Pro)) - GDF1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730C>G r.(?) p.(Leu244Val) Unknown - VUS g.18979795G>C g.18868986G>C GDF1(NM_001492.5):c.730C>G (p.L244V) - GDF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758G>A r.(?) p.(Arg253His) Unknown - VUS g.18979767C>T g.18868958C>T GDF1(NM_001492.5):c.758G>A (p.R253H) - GDF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.759C>G r.(?) p.(Arg253=) Unknown - VUS g.18979766G>C g.18868957G>C GDF1(NM_001492.5):c.759C>G (p.R253=) - GDF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829C>T r.(?) p.(Arg277Cys) Unknown - VUS g.18979696G>A - GDF1(NM_001492.6):c.829C>T (p.(Arg277Cys)) - GDF1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.841T>G r.(?) p.(Trp281Gly) Unknown - likely pathogenic g.18979684A>C g.18868875A>C - - GDF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842_855dup r.(?) p.(Ile286GlyfsTer104) Unknown - VUS g.18979670_18979683dup g.18868861_18868874dup GDF1(NM_001492.6):c.842_855dupGGCACCGCTGGGTC (p.I286Gfs*104) - GDF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844C>T r.(?) p.(His282Tyr) Unknown - VUS g.18979681G>A - GDF1(NM_001492.6):c.844C>T (p.H282Y) - GDF1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849C>G r.(?) p.(Arg283=) Unknown - likely benign g.18979676G>C g.18868867G>C - - GDF1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.860C>T r.(?) p.(Ala287Val) Unknown - VUS g.18979665G>A g.18868856G>A NM_021267.5:c.*1129C>T - GDF1_000066 - PubMed: Mansoorshahi 2024 - rs756972470 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV991 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
?/. - c.891G>C r.(?) p.(Gln297His) Unknown - VUS g.18979634C>G g.18868825C>G GDF1(NM_001492.5):c.891G>C (p.Q297H), GDF1(NM_001492.6):c.891G>C (p.(Gln297His)) - GDF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.891G>C r.(?) p.(Gln297His) Unknown - VUS g.18979634C>G - GDF1(NM_001492.5):c.891G>C (p.Q297H), GDF1(NM_001492.6):c.891G>C (p.(Gln297His)) - GDF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.891G>C r.(?) p.(Gln297His) Unknown - VUS g.18979634C>G - GDF1(NM_001492.5):c.891G>C (p.Q297H), GDF1(NM_001492.6):c.891G>C (p.(Gln297His)) - GDF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952G>A r.(?) p.(Ala318Thr) Unknown - pathogenic g.18979573C>T g.18868764C>T - - GDF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036_1053dup r.(?) p.(Ser346_Asp351dup) Unknown - VUS g.18979473_18979490dup - GDF1(NM_001492.6):c.1036_1053dupTCCGTGCTCTTCTTTGAC (p.S346_D351dup) - GDF1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1047_1050del r.(?) p.(Phe349LeufsTer35) Unknown - likely pathogenic g.18979477_18979480del g.18868668_18868671del GDF1(NM_001492.6):c.1047_1050del (p.(Phe349LeufsTer35)), GDF1(NM_001492.6):c.1047_1050delCTTT (p.F349Lfs*35) - GDF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1047_1050del r.(1047_1050del) p.Phe349Leufs*35 Unknown - pathogenic g.18979477_18979480del g.18868668_18868671del - - GDF1_000014 - PubMed: Liu 2020, Journal: Liu 2020 - rs768027510 Germline yes 1/80 patients - - - DNA SEQ, SEQ-NG-I Amniocentesis Panel of 478 genes CHD, HTX Pt7479 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 2 Patrice Bouvagnet
+?/. 8 c.1047_1050del r.(1047_1050del) p.Phe349Leufs*35 Both (homozygous) - pathogenic g.18979477_18979480del g.18868668_18868671del - - GDF1_000014 - PubMed: Liu 2020, Journal: Liu 2020 - rs768027510 Germline yes - - - - DNA SEQ - - CHD Pt7480 PubMed: Liu 2020, Journal: Liu 2020 - F no - - 00y - - - 1 Patrice Bouvagnet
+?/. 8 c.1047_1050del r.(1047_1050del) p.Phe349Leufs*35 Paternal (confirmed) - pathogenic g.18979477_18979480del g.18868668_18868671del - - GDF1_000014 - PubMed: Liu 2020, Journal: Liu 2020 - rs768027510 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood Panel of 478 genes CHD, HTX Pt7121 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 1 Patrice Bouvagnet
+/. - c.1047_1050del r.(?) p.(Phe349LeufsTer35) Unknown - pathogenic g.18979477_18979480del - GDF1(NM_001492.6):c.1047_1050del (p.(Phe349LeufsTer35)), GDF1(NM_001492.6):c.1047_1050delCTTT (p.F349Lfs*35) - GDF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051_1053del r.(?) p.(Asp351del) Unknown - VUS g.18979472_18979474del g.18868663_18868665del GDF1(NM_001492.5):c.1051_1053delGAC (p.D351del) - GDF1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1091T>C r.(?) p.(Met364Thr) Unknown - pathogenic g.18979434A>G - - - GDF1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1102G>A r.(?) p.(Glu368Lys) Unknown - likely benign g.18979423C>T g.18868614C>T GDF1(NM_001492.6):c.1102G>A (p.E368K) - GDF1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102G>A r.(?) p.(Glu368Lys) Unknown - VUS g.18979423C>T - GDF1(NM_001492.6):c.1102G>A (p.E368K) - GDF1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2514C>T r.(=) p.(=) Unknown - likely benign g.18976892G>A g.18866083G>A UPF1(NM_002911.3):c.3277G>A (p.(Val1093Met)) - GDF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2557A>C r.(=) p.(=) Unknown - likely benign g.18976849T>G g.18866040T>G UPF1(NM_002911.3):c.3238-4T>G (p.?) - GDF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5040C>T r.(=) p.(=) Unknown - likely benign g.18974366G>A g.18863557G>A UPF1(NM_002911.3):c.2720G>A (p.(Arg907His)) - GDF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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