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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1108879	NM_005726.6(TSFM):c.57+7A>G	TSFM	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 310007	NM_005726.6(TSFM):c.69T>A (p.Leu23=)	TSFM	Single nucleotide variant (synonymous variant)	TSFM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 378795	NM_005726.6(TSFM):c.117T>A (p.Arg39=)	TSFM	Single nucleotide variant (synonymous variant)	TSFM-related disorder +2 more	GBenign/Likely benign
Select item 1094414	NM_005726.6(TSFM):c.471T>G (p.Ser157=)	TSFM	Single nucleotide variant (synonymous variant)	TSFM-related disorder +1 more	GLikely benign
Select item 137761	NM_005726.6(TSFM):c.754G>A (p.Val252Ile)	TSFM (V273I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	TSFM-related disorder +3 more	GBenign/Likely benign
Select item 310018	NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)	TSFM (R275C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235467	NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)	TSFM (L287I +1 more)	Single nucleotide variant (missense variant +2 more)	TSFM-related disorder +2 more	GBenign/Likely benign
Select item 559172	NM_005726.6(TSFM):c.797T>A (p.Leu266His)	TSFM (L287H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	TSFM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 310020	NM_005726.6(TSFM):c.816C>T (p.Asp272=)	TSFM	Single nucleotide variant (synonymous variant +2 more)	TSFM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3034124	NM_006576.4(AVIL):c.1963-226T>A	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	TSFM-related disorder	GLikely benign