ClinVar for MedGen (Select 1782612) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066154	NM_005061.3(RPL3L):c.808G>A (p.Gly270Arg)	RPL3L (G270R)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 3065369	NM_005061.3(RPL3L):c.749_751del (p.Lys250_Val251delinsMet)	RPL3L	Deletion (inframe_indel)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 3062007	NM_005061.3(RPL3L):c.1202C>T (p.Pro401Leu)	RPL3L (P401L)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 2498271	NM_005061.3(RPL3L):c.829C>T (p.Arg277Cys)	RPL3L (R277C)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 1199411	NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)	RPL3L (A359fs)	Deletion (frameshift variant)	Cardiomyopathy, dilated, 2D	GUncertain significance
Select item 1162254	NM_005061.3(RPL3L):c.347G>A (p.Arg116His)	RPL3L (R116H)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 1162253	NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp)	RPL3L (R161W)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 1162252	NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)	RPL3L (G27D)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic/Likely pathogenic
Select item 1162251	NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)	RPL3L (D308N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1162250	NM_005061.3(RPL3L):c.566C>T (p.Thr189Met)	RPL3L (T189M)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 1162249	NM_005061.3(RPL3L):c.1027C>T (p.Arg343Trp)	RPL3L (R343W)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic
Select item 1162248	NM_005061.3(RPL3L):c.923A>T (p.Asp308Val)	RPL3L (D308V)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2D	GPathogenic