FHL1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248339	NC_000023.11:g.136147468A>C	FHL1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1281259	NM_001159702.3(FHL1):c.-158C>T	FHL1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 512539	NM_001159702.3(FHL1):c.-109C>A	FHL1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515310	NM_001159702.3(FHL1):c.-108C>T	FHL1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 488949	NM_001159702.3(FHL1):c.-101+3A>G	FHL1	Single nucleotide variant (intron variant)	Uruguay Faciocardiomusculoskeletal syndrome +5 more	GUncertain significance
Select item 390490	NM_001159702.3(FHL1):c.-101+10C>G	FHL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1212687	NM_001159702.3(FHL1):c.-101+94C>G	FHL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1249824	NM_001159702.3(FHL1):c.-100-378dup	FHL1	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 510267	NM_001159702.3(FHL1):c.-33G>C	FHL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 507047	NM_001159702.3(FHL1):c.-27+17G>T	FHL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1304791	NM_001159702.3(FHL1):c.-27+97del	FHL1	Deletion (intron variant)	not provided	GBenign
Select item 2661499	NM_001159702.3(FHL1):c.-26-9571C>T	FHL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 993975	NM_001159702.3(FHL1):c.-26-9547G>A	FHL1 (A20T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3036058	NM_001159702.3(FHL1):c.-26-9544G>T	FHL1 (G21C)	Single nucleotide variant (missense variant +1 more)	FHL1-related disorder	GLikely benign
Select item 3048123	NM_001159699.2(FHL1):c.-10T>G	FHL1	Single nucleotide variant (5 prime UTR variant +1 more)	FHL1-related disorder	GLikely benign
Select item 1309712	NM_001159699.2(FHL1):c.3G>A (p.Met1Ile)	FHL1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2661500	NM_001159699.2(FHL1):c.16_17delinsAC (p.His6Thr)	FHL1 (H6T)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2441806	NM_001159699.2(FHL1):c.22G>A (p.Gly8Ser)	FHL1 (G8S)	Single nucleotide variant (missense variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome	GUncertain significance
Select item 669527	NM_001159699.2(FHL1):c.23-282A>G	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187282	NM_001159699.2(FHL1):c.23-252C>T	FHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 644267	NC_000023.10:g.(?_135288556)_(135293528_?)dup	FHL1	Duplication	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 386800	NM_001159699.2(FHL1):c.23-5C>T	FHL1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3350784	NM_001159699.2(FHL1):c.23-4G>A	FHL1	Single nucleotide variant (intron variant)	FHL1-related disorder	GLikely benign
Select item 816855	NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys)	FHL1 (S10C +1 more)	Single nucleotide variant (missense variant +2 more)	X-linked scapuloperoneal muscular dystrophy	GUncertain significance
Select item 2861396	NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)	FHL1 (M1T +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely pathogenic
Select item 289087	NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)	FHL1 (A2V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +2 more	GConflicting classifications of pathogenicity
Select item 2450879	NM_001159699.2(FHL1):c.54G>A (p.Ala18=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 1359487	NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)	FHL1 (E32* +2 more)	Single nucleotide variant (nonsense +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 665560	NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)	FHL1 (K20R +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, reducing body, X-linked, early-onset, severe +5 more	GUncertain significance
Select item 760398	NM_001159699.2(FHL1):c.60G>A (p.Lys20=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1101949	NM_001159699.2(FHL1):c.63T>C (p.Phe21=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1023914	NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu)	FHL1 (F21L +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 3278818	NM_001159699.2(FHL1):c.67T>C (p.Cys23Arg)	FHL1 (C36R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 939820	NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe)	FHL1 (C36F +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1980282	NM_001159699.2(FHL1):c.72C>G (p.His24Gln)	FHL1 (H37Q +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 3221689	NM_001159699.2(FHL1):c.74A>C (p.Tyr25Ser)	FHL1 (Y25S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1603170	NM_001159699.2(FHL1):c.75C>T (p.Tyr25=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1433016	NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg)	FHL1 (C26R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1423972	NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)	FHL1 (C26Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +6 more	GUncertain significance
Select item 2450877	NM_001159699.2(FHL1):c.80G>A (p.Arg27Lys)	FHL1 (R40K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2798062	NM_001159699.2(FHL1):c.87C>T (p.Pro29=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 497558	NM_001159699.2(FHL1):c.88T>C (p.Leu30=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2636974	NM_001159699.2(FHL1):c.90G>C (p.Leu30Phe)	FHL1 (L14F +2 more)	Single nucleotide variant (missense variant +1 more)	FHL1-related disorder	GUncertain significance
Select item 2819696	NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)	FHL1 (Q15E +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2005647	NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)	FHL1 (Y19* +2 more)	Duplication (nonsense +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2857213	NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1656069	NM_001159699.2(FHL1):c.108G>A (p.Val36=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 410317	NM_001159699.2(FHL1):c.108del (p.Gln37fs)	FHL1 (Q21fs +2 more)	Deletion (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 949362	NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg)	FHL1 (Q37R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 2186341	NM_001159699.2(FHL1):c.111A>G (p.Gln37=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1299886	NM_001159699.2(FHL1):c.113A>C (p.Lys38Thr)	FHL1 (K22T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 288181	NM_001159699.2(FHL1):c.114G>A (p.Lys38=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +3 more	GBenign/Likely benign
Select item 1063199	NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser)	FHL1 (G24S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2768221	NM_001159699.2(FHL1):c.120C>A (p.Gly40=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 565801	NM_001159699.2(FHL1):c.121C>T (p.His41Tyr)	FHL1 (H25Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 3221692	NM_001159699.2(FHL1):c.129C>G (p.Cys43Trp)	FHL1 (C27W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2883846	NM_001159699.2(FHL1):c.132C>T (p.Cys44=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 755231	NM_001159699.2(FHL1):c.135G>A (p.Leu45=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 862874	NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg)	FHL1 (K30R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1719871	NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)	FHL1 (C31R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1389420	NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu)	FHL1 (C47L +2 more)	Indel (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2889960	NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)	FHL1 (F61Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2123756	NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)	FHL1 (F61S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 3278821	NM_001159699.2(FHL1):c.146_155del (p.Asp49fs)	FHL1 (D49fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 2110350	NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)	FHL1 (D33G +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1437619	NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln)	FHL1 (K34Q +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 636920	NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu)	FHL1 (K34E +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 1941154	NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)	FHL1 (K34N +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2116776	NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)	FHL1 (C52* +2 more)	Single nucleotide variant (nonsense +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 1099096	NM_001159699.2(FHL1):c.159C>T (p.Ala53=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 288500	NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser)	FHL1 (N38S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1596597	NM_001159699.2(FHL1):c.165C>T (p.Thr55=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1056373	NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg)	FHL1 (C40R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 546307	NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)	FHL1 (C40Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 537362	NM_001159699.2(FHL1):c.168T>C (p.Cys56=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2808718	NM_001159699.2(FHL1):c.177C>T (p.Cys59=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1769623	NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)	FHL1 (R60C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 513860	NM_001159699.2(FHL1):c.179G>A (p.Arg60His)	FHL1 (R44H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1636957	NM_001159699.2(FHL1):c.183G>A (p.Lys61=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2565495	NM_001159699.2(FHL1):c.187A>T (p.Ile63Phe)	FHL1 (I76F +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 469628	NM_001159699.2(FHL1):c.189C>T (p.Ile63=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome +4 more	GLikely benign
Select item 1301466	NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser)	FHL1 (G48S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 1300841	NM_001159699.2(FHL1):c.194C>T (p.Ala65Val)	FHL1 (A49V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 1598205	NM_001159699.2(FHL1):c.195G>A (p.Ala65=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2807396	NM_001159699.2(FHL1):c.198C>T (p.Asp66=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2892373	NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)	FHL1 (S67P +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1470630	NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe)	FHL1 (S51F +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 239005	NM_001159699.2(FHL1):c.204+5C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +4 more	GBenign/Likely benign
Select item 537359	NM_001159699.2(FHL1):c.204+6G>A	FHL1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2768959	NM_001159699.2(FHL1):c.204+7G>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1284335	NM_001159699.2(FHL1):c.204+14C>G	FHL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2886740	NM_001159699.2(FHL1):c.204+17T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1611267	NM_001159699.2(FHL1):c.204+18G>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 679824	NM_001159699.2(FHL1):c.205-57C>T	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740022	NM_001159699.2(FHL1):c.205-19C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1983872	NM_001159699.2(FHL1):c.205-14T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2911557	NM_001159699.2(FHL1):c.205-13G>A	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 513356	NM_001159699.2(FHL1):c.205-9G>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 967181	NM_001159699.2(FHL1):c.205-1G>A	FHL1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694654	NM_001159699.2(FHL1):c.211C>T (p.His71Tyr)	FHL1 (H55Y +2 more)	Single nucleotide variant (missense variant +1 more)	Muscle weakness	GUncertain significance

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