ClinVar for MedGen (Select 234775) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11925151.	NM_003073.5(SMARCB1):c.500+887G>A GRCh37: Chr22:24144155 GRCh38: Chr22:23801968	SMARCB1		Schwannomatosis	Pathogenic (May 5, 2021)	criteria provided, single submitter
Select item 11925142.	NM_003073.5(SMARCB1):c.500+883T>G GRCh37: Chr22:24144151 GRCh38: Chr22:23801964	SMARCB1		Schwannomatosis	Pathogenic (May 5, 2021)	criteria provided, single submitter
Select item 10762723.	NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter) GRCh37: Chr22:24143132 GRCh38: Chr22:23800945	SMARCB1	E113, E122	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 9176014.	NM_006767.4(LZTR1):c.372_385del (p.Val125fs) GRCh37: Chr22:21341844-21341857 GRCh38: Chr22:20987555-20987568	LZTR1	V125fs	Schwannomatosis, not provided	Pathogenic/Likely pathogenic (Mar 6, 2020)	criteria provided, multiple submitters, no conflicts
Select item 3409195.	NM_003073.5(SMARCB1):c.*116dup GRCh37: Chr22:24176480-24176481 GRCh38: Chr22:23834293-23834294	SMARCB1		Rhabdoid tumor predisposition syndrome, Schwannomatosis, not provided	Benign (Jun 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3409166.	NM_003073.5(SMARCB1):c.12_14dup GRCh37: Chr22:24176376-24176377 GRCh38: Chr22:23834189-23834190	SMARCB1		Coffin-Siris syndrome, Rhabdoid tumor predisposition syndrome, Schwannomatosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3409147.	NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) GRCh37: Chr22:24159051 GRCh38: Chr22:23816864	SMARCB1		not provided, Schwannomatosis, Coffin-Siris syndrome, Rhabdoid tumor predisposition syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 3409068.	NM_003073.5(SMARCB1):c.-149C>T GRCh37: Chr22:24129208 GRCh38: Chr22:23787021	SMARCB1		Coffin-Siris syndrome, Rhabdoid tumor predisposition syndrome, Schwannomatosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2899699.	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) GRCh37: Chr22:21346593 GRCh38: Chr22:20992304	LZTR1	R362*	Schwannomatosis 2, not provided, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Noonan syndrome 10, Noonan syndrome and Noonan-related syndrome, Noonan syndrome 2, Schwannomatosis, Noonan syndrome 10, Schwannomatosis 2, See cases ...see more	Pathogenic/Likely pathogenic (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23948610.	NM_003073.4(SMARCB1):c.987-?_*338dup510 GRCh37: Chr22:24175759-24176705 GRCh38: Chr22:23833572-23834518	DERL3, SMARCB1		Rhabdoid tumor predisposition syndrome 1, Schwannomatosis	Uncertain significance (Jun 5, 2016)	criteria provided, single submitter
Select item 23948011.	NM_003073.4(SMARCB1):c.-207-?_*338dup1703 GRCh37: Chr22:24129150-24176705 GRCh38: Chr22:23786963-23834518	DERL3, SMARCB1		Rhabdoid tumor predisposition syndrome 1, Schwannomatosis	Uncertain significance (Jul 20, 2016)	criteria provided, single submitter
Select item 10103812.	NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) GRCh37: Chr22:21348256 GRCh38: Chr22:20993967	LZTR1	R466Q	Noonan syndrome and Noonan-related syndrome, Schwannomatosis, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Mar 8, 2023)	criteria provided, conflicting interpretations
Select item 10103513.	NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) GRCh37: Chr22:21341837 GRCh38: Chr22:20987548	LZTR1	S122L	LZTR1-related condition, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Schwannomatosis, not provided	Conflicting interpretations of pathogenicity (Jul 20, 2023)	criteria provided, conflicting interpretations