ClinVar for PubMed (Select 29276004) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027644	NM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter)	RHOBTB2 (R70* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 64 +1 more	GUncertain significance
Select item 617912	NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)	RHOBTB2 (R507C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 545421	NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly)	RHOBTB2 (A474G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GLikely pathogenic
Select item 545418	NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)	RHOBTB2 (R511Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 545417	NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	RHOBTB2 (R483H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64 +2 more	GPathogenic/Likely pathogenic
Select item 521853	NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)	RHOBTB2 (N510D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64 +1 more	GLikely pathogenic
Select item 495261	NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	RHOBTB2 (R511W +2 more)	Single nucleotide variant (missense variant)	Rett syndrome +3 more	GConflicting classifications of pathogenicity
Select item 422169	NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His)	CACNA1A (R1235H +2 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder +4 more	GBenign/Likely benign