MFF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	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	GLikely benign
Select item 982113	NM_001277062.2(MFF):c.-40-862_-40-861delinsTT	MFF (S7F)	Indel (5 prime UTR 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	GBenign
Select item 379994	NM_001277062.2(MFF):c.-40-861G>T	MFF (S7I)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 3065879	NM_001277062.2(MFF):c.-40-842dup	MFF	Duplication (splice donor variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GLikely pathogenic
Select item 2799790	NM_001277062.2(MFF):c.-40-842G>A	MFF	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 3065870	NM_001277062.2(MFF):c.-40-841T>G	MFF	Single nucleotide variant (splice donor variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GLikely pathogenic
Select item 3048424	NM_001277062.2(MFF):c.-40-833A>G	MFF	Single nucleotide variant (intron variant)	MFF-related condition	GLikely benign
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 3011465	NM_001277062.2(MFF):c.-40-18T>C	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1497671	NM_001277062.2(MFF):c.17G>A (p.Arg6Gln)	MFF (R6Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415951	NM_001277062.2(MFF):c.26A>G (p.Tyr9Cys)	MFF (Y35C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2791292	NM_001277062.2(MFF):c.69C>A (p.Val23=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989365	NM_001277062.2(MFF):c.74A>G (p.Glu25Gly)	MFF (E25G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054729	NM_001277062.2(MFF):c.86T>C (p.Val29Ala)	MFF (V55A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1577363	NM_001277062.2(MFF):c.92C>T (p.Pro31Leu)	MFF (P31L +1 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2 +1 more	GBenign/Likely benign
Select item 2821968	NM_001277062.2(MFF):c.101C>T (p.Ala34Val)	MFF (A34V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253268	NM_001277062.2(MFF):c.106dup (p.Leu36fs)	MFF (L62fs +1 more)	Duplication (frameshift variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GPathogenic
Select item 39831	NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)	MFF (Q64* +1 more)	Single nucleotide variant (nonsense +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2 +2 more	GPathogenic/Likely pathogenic
Select item 1926948	NM_001277062.2(MFF):c.144T>C (p.Ser48=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1473707	NM_001277062.2(MFF):c.148A>T (p.Ile50Leu)	MFF (I76L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1949030	NM_001277062.2(MFF):c.156A>C (p.Gln52His)	MFF (Q78H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180898	NM_001277062.2(MFF):c.181+1_181+2insAAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	MFF	Insertion (splice donor variant)	not provided	GLikely pathogenic
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 2958792	NM_001277062.2(MFF):c.182-14T>C	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929742	NM_001277062.2(MFF):c.182-3T>C	MFF	Single nucleotide variant (intron variant)	not provided	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 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 509660	NM_001277062.2(MFF):c.253C>T (p.Leu85=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651958	NM_001277062.2(MFF):c.261G>A (p.Leu87=)	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 545568	NM_001277062.2(MFF):c.284del (p.Thr95fs)	MFF (T45fs +2 more)	Deletion (non-coding transcript variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GPathogenic
Select item 380072	NM_001277062.2(MFF):c.285G>A (p.Thr95=)	MFF	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 634511	NM_001277062.2(MFF):c.337C>A (p.Pro113Thr)	MFF (P139T +2 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GUncertain significance
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 996025	NM_001277062.2(MFF):c.355C>T (p.Arg119Ter)	MFF (R145* +2 more)	Single nucleotide variant (nonsense +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GPathogenic
Select item 1991225	NM_001277062.2(MFF):c.356G>A (p.Arg119Gln)	MFF (R119Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 253270	NM_001277062.2(MFF):c.375_376del (p.Glu127fs)	MFF (E77fs +2 more)	Deletion (frameshift variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GPathogenic
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 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 2176257	NM_001277062.2(MFF):c.403G>A (p.Val135Ile)	MFF (V135I +2 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2 +1 more	GConflicting classifications of pathogenicity
Select item 218582	NM_001277062.2(MFF):c.406C>T (p.Arg136Cys)	MFF (R162C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1980007	NM_001277062.2(MFF):c.407G>A (p.Arg136His)	MFF (R136H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903715	NM_001277062.2(MFF):c.440+16A>G	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023414	NM_001277062.2(MFF):c.440+2356T>C	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1591953	NM_001277062.2(MFF):c.440+2419G>A	MFF	Single nucleotide variant (synonymous variant +1 more)	MFF-related condition +1 more	GLikely benign
Select item 2786151	NM_001277062.2(MFF):c.440+2432G>T	MFF (E170* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 2975057	NM_001277062.2(MFF):c.441-17T>C	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853052	NM_001277062.2(MFF):c.441-13C>T	MFF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1478790	NM_001277062.2(MFF):c.446C>T (p.Thr149Ile)	MFF (T149I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943724	NM_001277062.2(MFF):c.448C>T (p.Pro150Ser)	MFF (P150S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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

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