"GeneDx"[submitter] AND "RNF13"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 1329512	NM_183381.3(RNF13):c.34G>A (p.Ala12Thr)	RNF13 (A12T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2581970	NM_183381.3(RNF13):c.46T>C (p.Tyr16His)	RNF13 (Y16H)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3343805	NM_183381.3(RNF13):c.709T>A (p.Tyr237Asn)	RNF13 (Y106N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1176469	NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)	RNF13	Microsatellite (nonsense +1 more)	Developmental and epileptic encephalopathy, 73 +1 more	GPathogenic/Likely pathogenic
Select item 1204067	NM_183381.3(RNF13):c.932del (p.Leu311fs)	RNF13 (L180fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1308257	NM_183381.3(RNF13):c.932T>A (p.Leu311Ter)	RNF13 (L180* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1502777	NM_183381.3(RNF13):c.1037A>G (p.Asn346Ser)	RNF13 (N227S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364072	NM_183381.3(RNF13):c.1138A>C (p.Thr380Pro)	RNF13 (T249P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic