Related gene-specific medical variations for Gene (Select 55612) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440238	NM_017671.5(FERMT1):c.373del (p.Cys125fs)	FERMT1 (C125fs)	Deletion (frameshift variant)	Kindler syndrome	GLikely pathogenic
Select item 1341677	NM_017671.5:c.892_893insALU	FERMT1	Insertion	Kindler syndrome	GPathogenic
Select item 1338732	NM_017671.5(FERMT1):c.456dup (p.Asp153fs)	FERMT1 (D153fs)	Duplication (frameshift variant)	Kindler syndrome	Gnot provided
Select item 1338731	NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter)	FERMT1 (Q226*)	Single nucleotide variant (nonsense)	Kindler syndrome	Gnot provided
Select item 894927	NM_017671.5(FERMT1):c.-262C>G	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 894926	NM_017671.5(FERMT1):c.-244G>A	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339245	NM_017671.5(FERMT1):c.-215G>A	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339244	NM_017671.5(FERMT1):c.-189C>A	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339243	NM_017671.5(FERMT1):c.-185A>G	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 224186	g.6109607_6112272del	FERMT1	Deletion	Kindler syndrome	GPathogenic
Select item 224185	g.6116239_6120157del	FERMT1	Deletion	Kindler syndrome	GPathogenic
Select item 224172	NM_017671.4:c.676insC	FERMT1	Insertion	Kindler syndrome	GPathogenic