ClinVar for MedGen (Select 338264) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 19924061.	NM_002894.3(RBBP8):c.428+6T>C GRCh37: Chr18:20555188 GRCh38: Chr18:22975225	RBBP8		Seckel syndrome 2	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 16835982.	NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) GRCh37: Chr18:20577602 GRCh38: Chr18:22997639	RBBP8	L683*	Jawad syndrome, Seckel syndrome 2	Likely pathogenic (Apr 14, 2021)	criteria provided, single submitter
Select item 15150943.	NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro) GRCh37: Chr18:20573799 GRCh38: Chr18:22993836	RBBP8	Q643P	Inborn genetic diseases, Jawad syndrome, Seckel syndrome 2, not provided	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14903604.	NM_002894.3(RBBP8):c.1939+20del GRCh37: Chr18:20573829 GRCh38: Chr18:22993866	RBBP8		Jawad syndrome, Seckel syndrome 2, not provided	Uncertain significance (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13683125.	NM_002894.3(RBBP8):c.293A>G (p.His98Arg) GRCh37: Chr18:20548813 GRCh38: Chr18:22968850	RBBP8	H98R	Seckel syndrome 2, Jawad syndrome, not provided, Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12638786.	NM_002894.3(RBBP8):c.605-48TCA[2] GRCh37: Chr18:20564801-20564803 GRCh38: Chr18:22984838-22984840	RBBP8		Jawad syndrome, not provided, Seckel syndrome 2	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10335527.	NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) GRCh37: Chr18:20581551 GRCh38: Chr18:23001588	RBBP8	E716K	not provided, Jawad syndrome, Jawad syndrome, Seckel syndrome 2, not specified	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6739368.	NM_002894.3(RBBP8):c.428+37T>C GRCh37: Chr18:20555219 GRCh38: Chr18:22975256	RBBP8		not provided, Jawad syndrome, Seckel syndrome 2	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3927309.	NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter) GRCh37: Chr18:20526436 GRCh38: Chr18:22946473	RBBP8	Q47*	not provided, Seckel syndrome 2	Likely pathogenic (Oct 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 32622110.	NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) GRCh37: Chr18:20569210 GRCh38: Chr18:22989247	RBBP8	P246A	Jawad syndrome, Seckel syndrome 2, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13010711.	NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) GRCh37: Chr18:20577669 GRCh38: Chr18:22997706	RBBP8		Seckel syndrome 2, not provided, Jawad syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13010112.	NM_002894.3(RBBP8):c.604+1G>T GRCh37: Chr18:20562357 GRCh38: Chr18:22982394	RBBP8		not provided, Seckel syndrome 2	Conflicting interpretations of pathogenicity (Jun 14, 2022)	criteria provided, conflicting interpretations
Select item 12724513.	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) GRCh37: Chr18:20548818 GRCh38: Chr18:22968855	RBBP8	R100W	not specified, Jawad syndrome, Seckel syndrome 2, Jawad syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2022)	criteria provided, conflicting interpretations
Select item 3040814.	NM_002894.3(RBBP8):c.2287+53T>G GRCh37: Chr18:20581745 GRCh38: Chr18:23001782	RBBP8		Seckel syndrome 2	Pathogenic (Oct 1, 2001)	no assertion criteria provided