Related gene-specific medical variations for Gene (Select 23221) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362271	NM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe)	RHOBTB2 (I204F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 3245561	NC_000008.10:g.(?_22872183)_(22873276_?)del	RHOBTB2	Deletion	not provided	GUncertain significance
Select item 2441930	NM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr)	RHOBTB2 (D568Y +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 2441754	NM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys)	RHOBTB2 (W217C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 2435433	NM_015178.3(RHOBTB2):c.1331A>G (p.Asp444Gly)	RHOBTB2 (D444G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 2435432	NM_015178.3(RHOBTB2):c.276C>G (p.Asp92Glu)	RHOBTB2 (D114E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 1701747	NM_015178.3(RHOBTB2):c.978C>A (p.His326Gln)	RHOBTB2 (H326Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 1342421	NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs)	RHOBTB2 (G497fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 1341709	NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg)	RHOBTB2 (H514R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 996907	NM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met)	RHOBTB2 (V541M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 161539	NM_015178.3(RHOBTB2):c.392C>G (p.Pro131Arg)	RHOBTB2 (P153R +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance