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Links from MedGen

Items: 11

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:14420615-48080926
DOP1B, DSCAM, DSCR4, DSCR8, DYRK1A, ERG, ETS2, EVA1C, FAM3B, FTCD, GABPA, GART, GATD3, GET1, GRIK1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, ITGB2, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00114, LINC00163, LINC00315, LINC00334, LIPI, LRRC3, LSS, LTN1, MAP3K7CL, MCM3AP, MIR125B2, MIR155, MIR99A, MIRLET7C, MIS18A, MORC3, MRAP, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PCBP3, PCNT, PCP4, PDE9A, PDXK, PFKL, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RRP1, RRP1B, RSPH1, RUNX1, RWDD2B, S100B, SAMSN1, SCAF4, SETD4, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SOD1, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, TTC3, U2AF1, UBASH3A, UBE2G2, UMODL1, URB1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, BACE2, BACH1, BRWD1, BTG3, C21orf58, C21orf62, C21orf91, C2CD2, CBR1, CBR3, CBS, CCT8, CFAP298, CFAP410, CHAF1B, CHODL, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, DIP2A, DNAJC28, DNMT3L, DONSON
Complete trisomy 21 syndromePathogenicno assertion criteria provided
2.
GRCh37:
ChrX:48650721
GRCh38:
ChrX:48792314
GATA1X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,
Beta-thalassemia-X-linked thrombocytopenia syndrome, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Congenital hypoplastic anemia
Benign/Likely benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
ChrX:48652222
GRCh38:
ChrX:48793815
GATA1R298QThrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Beta-thalassemia-X-linked thrombocytopenia syndrome,
Complete trisomy 21 syndrome, Congenital hypoplastic anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Uncertain significance
(May 6, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
ChrX:48650258-48650259
GRCh38:
ChrX:48791851-48791852
GATA1Y78fsComplete trisomy 21 syndrome, Congenital hypoplastic anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:1107478
GRCh38:
Chr4:1113690
LOC105374344, RNF212Complete trisomy 21 syndromerisk factor
(Sep 10, 2019)
no assertion criteria provided
6.
GRCh37:
ChrX:48649551
GRCh38:
ChrX:48791144
GATA1S12*GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Congenital hypoplastic anemia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,
Beta-thalassemia-X-linked thrombocytopenia syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Complete trisomy 21 syndrome
Pathogenic/Likely pathogenic
(Jul 9, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
ChrX:48652273
GRCh38:
ChrX:48793866
GATA1K315RGATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Congenital hypoplastic anemia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,
Beta-thalassemia-X-linked thrombocytopenia syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Complete trisomy 21 syndrome
Uncertain significance
(Oct 27, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr6:33137252
GRCh38:
Chr6:33169475
COL11A2R1150C, R1129C, R1236CComplete trisomy 21 syndrome, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
Conflicting interpretations of pathogenicity
(Sep 21, 2022)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr2:73717326
GRCh38:
Chr2:73490199
ALMS1V2748G, V2747GCardiovascular phenotype, Complete trisomy 21 syndrome, not provided,
Alstrom syndrome
Uncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
ChrX:48649610
GRCh38:
ChrX:48791203
GATA1V32ICongenital hypoplastic anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Complete trisomy 21 syndrome,
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Beta-thalassemia-X-linked thrombocytopenia syndrome,
not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
11.
GRCh37:
ChrX:48649690
GRCh38:
ChrX:48791283
GATA1Congenital hypoplastic anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,
Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Beta-thalassemia-X-linked thrombocytopenia syndrome,
not specified
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
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