ClinVar for MedGen (Select 810673) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683598	NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	RBBP8 (L683*)	Single nucleotide variant (nonsense)	Seckel syndrome 2 +1 more	GLikely pathogenic
Select item 1515094	NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	RBBP8 (Q643P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1490360	NM_002894.3(RBBP8):c.1939+20del	RBBP8	Deletion (intron variant)	Jawad syndrome +2 more	GUncertain significance
Select item 1368312	NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	RBBP8 (H98R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1333383	NM_002894.3(RBBP8):c.2287+1G>A	RBBP8	Single nucleotide variant (splice donor variant)	Jawad syndrome	GLikely pathogenic
Select item 1263878	NM_002894.3(RBBP8):c.605-48TCA[2]	RBBP8	Microsatellite (intron variant)	Seckel syndrome 2 +2 more	GBenign
Select item 1033553	NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer)	RBBP8	Deletion (nonsense)	Jawad syndrome	GPathogenic
Select item 1033552	NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	RBBP8 (E716K)	Single nucleotide variant (missense variant)	Jawad syndrome +3 more	GUncertain significance
Select item 1030603	NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met)	RBBP8 (T812M)	Single nucleotide variant (missense variant +1 more)	Jawad syndrome +2 more	GUncertain significance
Select item 930296	NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)	RBBP8 (V486fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 673936	NM_002894.3(RBBP8):c.428+37T>C	RBBP8	Single nucleotide variant (intron variant)	Seckel syndrome 2 +2 more	GBenign
Select item 326234	NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)	RBBP8 (R839Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 326223	NM_002894.3(RBBP8):c.927A>G (p.Ser309=)	RBBP8	Single nucleotide variant (synonymous variant)	Seckel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326221	NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	RBBP8 (P246A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 130107	NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 127245	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	RBBP8 (R100W)	Single nucleotide variant (missense variant)	Jawad syndrome +2 more	GConflicting classifications of pathogenicity
Select item 30409	NM_002894.3(RBBP8):c.1808_1809del (p.Ile603fs)	RBBP8 (I603fs)	Deletion (frameshift variant)	Jawad syndrome	GPathogenic