"GeneDx"[submitter] AND "MFF"[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1294408	NC_000002.12:g.227325204C>T	MFF	Single nucleotide variant	not provided	GBenign
Select item 1292201	NM_001277062.2(MFF):c.-311C>A	MFF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259107	NM_001277062.2(MFF):c.-294C>G	MFF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1266167	NM_001277062.2(MFF):c.-252C>A	LOC129935732, MFF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1294402	NM_001277062.2(MFF):c.-153+8T>C	LOC129935732, MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257414	NM_001277062.2(MFF):c.-153+114del	LOC129935732, MFF	Deletion (intron variant)	not provided	GBenign
Select item 1244076	NM_001277062.2(MFF):c.-152-1171_-152-1170insAGT	MFF	Insertion (intron variant)	not provided	GBenign
Select item 1263094	NM_001277062.2(MFF):c.-152-1106C>G	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271167	NM_001277062.2(MFF):c.-152-30T>G	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420332	NM_001277062.2(MFF):c.-139TC[1]	MFF	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507097	NM_001277062.2(MFF):c.-50T>A	MFF	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 387060	NM_001277062.2(MFF):c.-40-888G>A	MFF	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 982113	NM_001277062.2(MFF):c.-40-862_-40-861delinsTT	MFF (S7F)	Indel (intron variant +2 more)	not specified +1 more	GBenign
Select item 379993	NM_001277062.2(MFF):c.-40-862A>T	MFF (S7C)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 379994	NM_001277062.2(MFF):c.-40-861G>T	MFF (S7I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 385803	NM_001277062.2(MFF):c.-40-829T>G	MFF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1182897	NM_001277062.2(MFF):c.-40-772G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291453	NM_001277062.2(MFF):c.-40-692dup	MFF	Duplication (intron variant)	not provided	GBenign
Select item 1261117	NM_001277062.2(MFF):c.-40-693_-40-692dup	MFF	Duplication (intron variant)	not provided	GBenign
Select item 684244	NM_001277062.2(MFF):c.-40-689C>T	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673169	NM_001277062.2(MFF):c.-40-294G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672867	NM_001277062.2(MFF):c.-40-291G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285967	NM_001277062.2(MFF):c.-40-277_-40-270del	MFF	Microsatellite (intron variant)	not provided	GBenign
Select item 1199776	NM_001277062.2(MFF):c.-40-79G>A	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507089	NM_001277062.2(MFF):c.27C>T (p.Tyr9=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 668501	NM_001277062.2(MFF):c.181+8A>G	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669177	NM_001277062.2(MFF):c.181+16T>C	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194478	NM_001277062.2(MFF):c.181+30G>A	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182680	NM_001277062.2(MFF):c.181+201C>T	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249981	NM_001277062.2(MFF):c.182-266dup	MFF	Duplication (intron variant)	not provided	GBenign
Select item 669500	NM_001277062.2(MFF):c.182-167G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509660	NM_001277062.2(MFF):c.253C>T (p.Leu85=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1342747	NM_001277062.2(MFF):c.284C>T (p.Thr95Met)	MFF (T121M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380072	NM_001277062.2(MFF):c.285G>A (p.Thr95=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1266782	NM_001277062.2(MFF):c.351+64A>G	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684246	NM_001277062.2(MFF):c.351+184A>G	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244304	NM_001277062.2(MFF):c.351+286G>T	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275284	NM_001277062.2(MFF):c.352-200GT[10]	MFF	Microsatellite (intron variant)	not provided	GBenign
Select item 1257150	NM_001277062.2(MFF):c.352-79C>T	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235719	NM_001277062.2(MFF):c.352-26C>T	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387250	NM_001277062.2(MFF):c.372A>G (p.Leu124=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1344934	NM_001277062.2(MFF):c.376_378del (p.Arg126del)	MFF (R126del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2443625	NM_001277062.2(MFF):c.440+2436A>G	MFF (Y171C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386279	NM_001277062.2(MFF):c.440+2458T>G	MFF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1264097	NM_001277062.2(MFF):c.440+2529G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684251	NM_001277062.2(MFF):c.440+2680C>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504829	NM_001277062.2(MFF):c.595C>T (p.Arg199Cys)	MFF (R149C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383024	NM_001277062.2(MFF):c.599+14C>T	MFF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1283974	NM_001277062.2(MFF):c.600-238G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513096	NM_001277062.2(MFF):c.600-17G>A	MFF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 382150	NM_001277062.2(MFF):c.630C>A (p.Ala210=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1272344	NM_001277062.2(MFF):c.660-249T>C	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669501	NM_001277062.2(MFF):c.660-232C>T	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669502	NM_001277062.2(MFF):c.660-166T>C	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186587	NM_001277062.2(MFF):c.660-106A>G	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676149	NM_001277062.2(MFF):c.660-105A>G	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675559	NM_001277062.2(MFF):c.660-60G>A	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509211	NM_001277062.2(MFF):c.660-3C>T	MFF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512924	NM_001277062.2(MFF):c.699G>A (p.Thr233=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1193763	NM_001277062.2(MFF):c.744+32C>T	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257138	NM_001277062.2(MFF):c.744+51T>C	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241200	NM_001277062.2(MFF):c.744+227_744+229del	MFF	Deletion (intron variant)	not provided	GBenign
Select item 684252	NM_001277062.2(MFF):c.744+292T>C	MFF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678893	NM_001277062.2(MFF):c.745-42A>T	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380073	NM_001277062.2(MFF):c.768A>G (p.Leu256=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1327652	NM_001277062.2(MFF):c.796C>T (p.Arg266Cys)	MFF (R193C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1329809	NM_001277062.2(MFF):c.869G>A (p.Arg290His)	MFF (R217H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380592	NM_001277062.2(MFF):c.*18A>G	MFF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1256794	NM_001277062.2(MFF):c.*129G>C	MFF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1214475	NM_001277062.2(MFF):c.*308C>T	MFF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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Items: 73