"CTSF-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2713142	NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)	CTSF	Single nucleotide variant (synonymous variant)	CTSF-related disorder +1 more	GLikely benign
Select item 715824	NM_003793.4(CTSF):c.1203C>T (p.Ser401=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1194880	NM_003793.4(CTSF):c.1140C>T (p.Ser380=)	CTSF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1197405	NM_003793.4(CTSF):c.1046-10C>T	CTSF	Single nucleotide variant (intron variant)	CTSF-related disorder +1 more	GLikely benign
Select item 2631005	NM_003793.4(CTSF):c.693T>A (p.Tyr231Ter)	CTSF (Y231*)	Single nucleotide variant (nonsense)	CTSF-related disorder	GLikely pathogenic
Select item 60678	NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)	CTSF (Y231C)	Single nucleotide variant (missense variant)	CTSF-related disorder	GUncertain significance
Select item 424983	NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	CTSF (T228R)	Single nucleotide variant (missense variant)	CTSF-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 588058	NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)	CTSF (R226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 3037581	NM_003793.4(CTSF):c.420C>T (p.Ala140=)	CTSF	Single nucleotide variant (synonymous variant)	CTSF-related disorder	GLikely benign
Select item 1627835	NM_003793.4(CTSF):c.213+7A>T	CTSF	Single nucleotide variant (intron variant)	CTSF-related disorder +1 more	GLikely benign
Select item 590130	NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)	CTSF (R44C)	Single nucleotide variant (missense variant)	CTSF-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1167443	NM_003793.4(CTSF):c.45G>T (p.Pro15=)	CTSF	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 13 +1 more	GBenign/Likely benign