ClinVar for MedGen (Select 4385) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1563494	NM_002049.4(GATA1):c.599-9C>T	GATA1	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +5 more	GBenign/Likely benign
Select item 1429222	NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)	GATA1 (R298Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +5 more	GUncertain significance
Select item 1068556	NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)	GATA1 (Y78fs)	Microsatellite (frameshift variant)	Complete trisomy 21 syndrome +2 more	GPathogenic
Select item 984916	NR_134676.1(LOC105374344):n.52T>C	LOC105374344, RNF212	Single nucleotide variant (non-coding transcript variant)	Complete trisomy 21 syndrome	Grisk factor
Select item 952388	NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	GATA1 (S12*)	Single nucleotide variant (nonsense)	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia +6 more	GPathogenic/Likely pathogenic
Select item 945514	NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)	GATA1 (K315R)	Single nucleotide variant (missense variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +5 more	GUncertain significance
Select item 907893	NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)	COL11A2 (R1150C +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GConflicting classifications of pathogenicity
Select item 550971	NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)	ALMS1 (V2748G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 465135	NM_002049.4(GATA1):c.94G>A (p.Val32Ile)	GATA1 (V32I)	Single nucleotide variant (missense variant)	Complete trisomy 21 syndrome +6 more	GConflicting classifications of pathogenicity
Select item 258542	NM_002049.4(GATA1):c.174G>A (p.Ala58=)	GATA1	Single nucleotide variant (synonymous variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +6 more	GBenign/Likely benign