"Ambry Genetics"[submitter] AND "MFF"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125669	NM_001277062.2(MFF):c.-40-859G>T	MFF (D8Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3125670	NM_001277062.2(MFF):c.-40-843G>A	MFF (R13K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1497671	NM_001277062.2(MFF):c.17G>A (p.Arg6Gln)	MFF (R6Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3294504	NM_001277062.2(MFF):c.24G>T (p.Gln8His)	MFF (Q8H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402967	NM_001277062.2(MFF):c.199T>C (p.Ser67Pro)	MFF (S17P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1479931	NM_001277062.2(MFF):c.205T>G (p.Ser69Ala)	MFF (S19A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2603976	NM_001277062.2(MFF):c.212C>T (p.Pro71Leu)	MFF (P21L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510850	NM_001277062.2(MFF):c.223G>A (p.Asp75Asn)	MFF (D75N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294503	NM_001277062.2(MFF):c.226C>A (p.Leu76Ile)	MFF (L102I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623087	NM_001277062.2(MFF):c.226C>T (p.Leu76Phe)	MFF (L76F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1214248	NM_001277062.2(MFF):c.275G>A (p.Arg92His)	MFF (R118H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2365473	NM_001277062.2(MFF):c.383G>A (p.Arg128Gln)	MFF (R128Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3294502	NM_001277062.2(MFF):c.406C>A (p.Arg136Ser)	MFF (R86S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304672	NM_001277062.2(MFF):c.440+2418C>T	MFF (P191L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125672	NM_001277062.2(MFF):c.440+2430C>T	MFF (P169L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496181	NM_001277062.2(MFF):c.484A>T (p.Met162Leu)	MFF (M162L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125673	NM_001277062.2(MFF):c.520C>T (p.Arg174Cys)	MFF (R174C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467022	NM_001277062.2(MFF):c.610C>T (p.Arg204Cys)	MFF (R151C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485034	NM_001277062.2(MFF):c.641C>G (p.Pro214Arg)	MFF (P214R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125674	NM_001277062.2(MFF):c.646C>G (p.His216Asp)	MFF (H177D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125675	NM_001277062.2(MFF):c.650A>C (p.Asp217Ala)	MFF (D268A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125676	NM_001277062.2(MFF):c.683C>A (p.Thr228Lys)	MFF (T158K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1371186	NM_001277062.2(MFF):c.689T>C (p.Ile230Thr)	MFF (I157T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2406525	NM_001277062.2(MFF):c.697A>G (p.Thr233Ala)	MFF (T233A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222568	NM_001277062.2(MFF):c.744+4T>A	MFF	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2226992	NM_001277062.2(MFF):c.744+5_744+6insCAAACTAAA	MFF	Insertion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1029745	NM_001277062.2(MFF):c.749T>G (p.Ile250Ser)	MFF (I202S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151139	NM_001277062.2(MFF):c.819G>T (p.Met273Ile)	MFF (M234I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237142	NM_001277062.2(MFF):c.868C>G (p.Arg290Gly)	MFF (R290G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 29