ClinVar for MedGen (Select 862798) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064505	NM_004714.3(DYRK1B):c.1256G>T (p.Arg419Leu)	DYRK1B (R379L +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 2665009	NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln)	DYRK1B (R507Q +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3 +1 more	GUncertain significance
Select item 2584637	NM_004714.3(DYRK1B):c.1748C>T (p.Ala583Val)	DYRK1B (A543V +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 2441087	NM_004714.3(DYRK1B):c.1729C>T (p.Pro577Ser)	DYRK1B (P537S +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 2441086	NM_004714.3(DYRK1B):c.1269G>T (p.Leu423=)	DYRK1B	Single nucleotide variant (synonymous variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 2343667	NM_004714.3(DYRK1B):c.532C>G (p.Arg178Gly)	DYRK1B (R178G)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3 +1 more	GUncertain significance
Select item 1803906	NM_004714.3(DYRK1B):c.1285G>C (p.Gly429Arg)	DYRK1B (G389R +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related condition +1 more	GUncertain significance
Select item 1803872	NM_004714.3(DYRK1B):c.63+7G>A	DYRK1B	Single nucleotide variant (intron variant)	DYRK1B-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1803864	NM_004714.3(DYRK1B):c.1627C>T (p.Pro543Ser)	DYRK1B (P503S +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 1285475	NM_004714.3(DYRK1B):c.1181C>T (p.Pro394Leu)	DYRK1B (P394L)	Single nucleotide variant (missense variant +1 more)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 1029888	NM_004714.3(DYRK1B):c.1541G>A (p.Arg514Gln)	DYRK1B (R474Q +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 496678	NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)	AHDC1 (R925*)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +2 more	GPathogenic/Likely pathogenic
Select item 132793	NM_004714.3(DYRK1B):c.269A>C (p.His90Pro)	DYRK1B (H90P)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GPathogenic
Select item 132792	NM_004714.3(DYRK1B):c.304C>T (p.Arg102Cys)	DYRK1B (R102C)	Single nucleotide variant (missense variant)	not provided	GPathogenic