ClinVar for MedGen (Select 1675524) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582459	NM_006914.4(RORB):c.99C>A (p.Phe33Leu)	RORB (F33L +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 2580352	GRCh37/hg19 9q21.13(chr9:77112742-77113051)x1	RORB	Copy number loss	Epilepsy, idiopathic generalized, susceptibility to, 15	GPathogenic
Select item 2501689	NM_006914.4(RORB):c.1069del (p.Glu357fs)	RORB (E357fs +1 more)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GPathogenic
Select item 1709380	NM_006914.4(RORB):c.193T>A (p.Cys65Ser)	RORB (C65S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GLikely pathogenic
Select item 1699060	NM_006914.4(RORB):c.945C>A (p.Asn315Lys)	RORB (N315K +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 1696675	NM_006914.4(RORB):c.94-1144G>T	RORB	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 1687547	NM_006914.4(RORB):c.1156del (p.Glu386fs)	RORB (E386fs +1 more)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GLikely pathogenic
Select item 1683646	NM_006914.4(RORB):c.94-1G>A	RORB	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1526160	NM_006914.4(RORB):c.938C>A (p.Pro313Gln)	RORB (P313Q +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 1353211	NM_006914.4(RORB):c.137G>T (p.Cys46Phe)	RORB (C46F +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15 +1 more	GConflicting classifications of pathogenicity
Select item 1338791	NM_006914.4(RORB):c.197G>T (p.Arg66Leu)	RORB (R66L +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 1327473	NM_006914.4(RORB):c.202C>T (p.Gln68Ter)	RORB (Q68* +1 more)	Single nucleotide variant (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 15	GPathogenic
Select item 1301876	NM_006914.4(RORB):c.853G>A (p.Glu285Lys)	RORB (E285K +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 981652	NM_006914.4(RORB):c.926G>A (p.Arg309His)	RORB (R309H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 807673	NM_006914.4(RORB):c.357dup (p.Arg120fs)	RORB (R120fs +1 more)	Duplication (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GPathogenic
Select item 690378	NM_006914.4(RORB):c.8-1G>A	RORB	Single nucleotide variant (splice acceptor variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GLikely pathogenic
Select item 620654	NC_000009.11:g.77261322_77313598del	RORB	Deletion	Epilepsy, idiopathic generalized, susceptibility to, 15	Grisk factor
Select item 620651	NM_006914.4(RORB):c.196C>T (p.Arg66Ter)	RORB (R66* +1 more)	Single nucleotide variant (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 15	Grisk factor
Select item 225116	NM_006914.4(RORB):c.1249_1251del (p.Thr417del)	RORB (T417del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 225115	NM_006914.4(RORB):c.218T>C (p.Leu73Pro)	RORB (L73P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic

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Items: 20