ClinVar for MedGen (Select 1681654) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585441	NM_183381.3(RNF13):c.106A>G (p.Ile36Val)	RNF13 (I36V)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 1810407	NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)	RNF13 (E188* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 73	GLikely pathogenic
Select item 1805001	NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)	RNF13 (N88Y)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 1705650	NM_183381.3(RNF13):c.929del (p.Pro310fs)	RNF13 (P179fs +2 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 1333960	NM_183381.3(RNF13):c.898C>T (p.Gln300Ter)	RNF13 (Q169* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 1297471	NM_183381.3(RNF13):c.950_951del (p.Ser317fs)	RNF13 (S186fs +2 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 1240740	NM_183381.3(RNF13):c.789C>T (p.His263=)	RNF13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 73 +1 more	GBenign
Select item 1213707	NM_183381.3(RNF13):c.613A>G (p.Lys205Glu)	RNF13 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 73	GUncertain significance
Select item 1176469	NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)	RNF13	Microsatellite (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1098594	NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala)	RNF13 (T218A +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 73 +1 more	GUncertain significance
Select item 625148	NM_183381.3(RNF13):c.935T>C (p.Leu312Pro)	RNF13 (L312P +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 73	GPathogenic
Select item 625147	NM_183381.3(RNF13):c.932T>C (p.Leu311Ser)	RNF13 (L311S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 73	GPathogenic