"GeneReviews"[submitter] AND "FERMT1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224181	NM_017671.5(FERMT1):c.1383C>A (p.Tyr461Ter)	FERMT1 (Y461*)	Single nucleotide variant (nonsense)	Kindler syndrome	Gnot provided
Select item 224180	NM_017671.5(FERMT1):c.1176T>G (p.Tyr392Ter)	FERMT1 (Y392*)	Single nucleotide variant (nonsense)	Kindler syndrome	Gnot provided
Select item 224184	NM_017671.5(FERMT1):c.850-272_1139+53del	FERMT1	Deletion (splice acceptor variant +1 more)	Kindler syndrome	GPathogenic
Select item 224177	NM_017671.5(FERMT1):c.1139+2T>C	FERMT1	Single nucleotide variant (splice donor variant)	Kindler syndrome	Gnot provided
Select item 224176	NM_017671.5(FERMT1):c.994_995del (p.Gln332fs)	FERMT1 (Q332fs)	Microsatellite (frameshift variant)	Kindler syndrome	Gnot provided
Select item 224174	NM_017671.5(FERMT1):c.957+1G>A	FERMT1	Single nucleotide variant (splice donor variant)	Kindler syndrome	Gnot provided
Select item 224173	NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter)	FERMT1 (E304*)	Single nucleotide variant (nonsense)	Kindler syndrome +1 more	GPathogenic
Select item 224164	NM_017671.5(FERMT1):c.889A>G (p.Arg297Gly)	FERMT1 (R297G)	Single nucleotide variant (missense variant)	Kindler syndrome	Gnot provided
Select item 2718	NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter)	FERMT1 (R288*)	Single nucleotide variant (nonsense)	Kindler syndrome +1 more	GPathogenic
Select item 2717	NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)	FERMT1 (R271*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 419593	NM_017671.5(FERMT1):c.676dup (p.Gln226fs)	FERMT1 (Q226fs)	Duplication (frameshift variant)	Kindler syndrome +1 more	GPathogenic
Select item 1338731	NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter)	FERMT1 (Q226*)	Single nucleotide variant (nonsense)	Kindler syndrome	Gnot provided
Select item 224171	NM_017671.5(FERMT1):c.550dup (p.Ser184fs)	FERMT1 (S184fs)	Duplication (frameshift variant)	Kindler syndrome	Gnot provided
Select item 1338732	NM_017671.5(FERMT1):c.456dup (p.Asp153fs)	FERMT1 (D153fs)	Duplication (frameshift variant)	Kindler syndrome	Gnot provided
Select item 1322895	NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter)	FERMT1 (R110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 224183	NM_017671.4(FERMT1):c.0_-19+470del	FERMT1, LOC130065404	Deletion (genic upstream transcript variant)	Kindler syndrome	GPathogenic
Select item 224169	NM_017671.5(FERMT1):c.-20A>G	FERMT1	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	Gnot provided
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20