C1836327[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239489	NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)	SMARCE1 (E411*)	Single nucleotide variant (nonsense)	Rhabdoid tumor predisposition syndrome 1 +3 more	GBenign/Likely benign
Select item 463415	NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +3 more	GLikely benign
Select item 463433	NM_003079.5(SMARCE1):c.762G>A (p.Glu254=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 414255	NM_003079.5(SMARCE1):c.525T>C (p.Pro175=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 239483	NM_003073.5(SMARCB1):c.362+7C>T	SMARCB1	Single nucleotide variant (intron variant)	Schwannomatosis 1 +3 more	GBenign/Likely benign
Select item 340913	NM_003073.5(SMARCB1):c.628+13C>T	SMARCB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 464338	NM_003073.5(SMARCB1):c.795+9C>T	SMARCB1	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GLikely benign
Select item 126368	NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)	SMARCB1	Single nucleotide variant (synonymous variant)	Schwannomatosis 1 +4 more	GBenign
Select item 281915	NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)	SMARCB1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign