C4693899[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585146	NM_015178.3(RHOBTB2):c.494C>A (p.Pro165His)	RHOBTB2 (P165H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 2671785	NM_015178.3(RHOBTB2):c.945C>A (p.His315Gln)	RHOBTB2 (H315Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64 +1 more	GUncertain significance
Select item 3234862	NM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val)	RHOBTB2 (I448V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 545417	NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	RHOBTB2 (R483H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1439048	NM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile)	RHOBTB2 (V619I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64 +2 more	GUncertain significance
Select item 1098681	NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp)	RHOBTB2 (R680W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2585241	NM_015178.3(RHOBTB2):c.2140G>A (p.Ala714Thr)	RHOBTB2 (A714T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 2585242	NM_001330260.2(SCN8A):c.1179G>T (p.Leu393Phe)	SCN8A (L393F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance