C2750995[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163332	NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)	RBM20 (Q154*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 202053	NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)	RBM20 (Q205K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 44028	NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)	RBM20 (G284R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 618860	NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)	RBM20 (E353K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 229187	NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln)	RBM20 (R513Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 411653	NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)	RBM20 (R634W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 180478	NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)	RBM20 (G672S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 202046	NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)	RBM20 (P706T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 43986	NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)	RBM20 (R716Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 165041	NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)	RBM20 (D786G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 263676	NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)	RBM20 (E787K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 658408	NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)	RBM20 (V922M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1163333	NM_001134363.3(RBM20):c.2802del (p.Ile935fs)	RBM20 (I935fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 263590	NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)	RBM20 (R1008P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 470608	NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)	RBM20 (R1057W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 618859	NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)	RBM20 (E1091K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 470611	NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)	RBM20 (T1171M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 2915020	NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp)	RBM20 (N1189D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance