ClinVar for Gene (Select 2273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245201	NC_000023.10:g.(?_135284455)_(135289168_?)del	FHL1	Deletion	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 3245190	NC_000023.10:g.(?_135288592)_(135741574_?)del	BRS3, ADGRG4 +5 more	Deletion	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 3221691	NM_001159699.2(FHL1):c.613G>A (p.Val205Ile)	FHL1 (V189I +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221690	NM_001159699.2(FHL1):c.507C>T (p.Cys169=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 3221688	NM_001159699.2(FHL1):c.298_301dup (p.Asn101fs)	FHL1 (N101fs +2 more)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
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 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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CMC4, CNGA2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3023526	NM_001159699.2(FHL1):c.380-16T>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 3022735	NM_001159699.2(FHL1):c.780C>T (p.Ser260=)	FHL1 (P311L +2 more)	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 3022729	NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)	FHL1 (T175S +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 3007318	NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)	FHL1 (A277fs +2 more)	Microsatellite (frameshift variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2990459	NM_001159699.2(FHL1):c.550-18C>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2981223	NM_001159699.2(FHL1):c.597C>G (p.Ala199=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2964441	NM_001159699.2(FHL1):c.550-13C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2921111	NM_001159699.2(FHL1):c.737-8C>G	FHL1	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis type 1	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 2910490	NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)	FHL1 (Q286* +2 more)	Single nucleotide variant (nonsense +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2902274	NM_001159699.2(FHL1):c.888G>A (p.Leu296=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2893227	NM_001159699.2(FHL1):c.737-3dup	FHL1	Duplication (intron variant)	X-linked myopathy with postural muscle atrophy	GBenign
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 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 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 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 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 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 2853924	NM_001159699.2(FHL1):c.379+19C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2847727	NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)	FHL1 (A260T +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2842820	NM_001159699.2(FHL1):c.737-16T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2842663	NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)	FHL1 (D304fs +2 more)	Duplication (frameshift variant +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2840923	NM_001159699.2(FHL1):c.225C>T (p.Arg75=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2836198	NM_001159699.2(FHL1):c.531T>G (p.His177Gln)	FHL1 (H177Q +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2835923	NM_001159699.2(FHL1):c.737-10T>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2834742	NM_001159699.2(FHL1):c.429C>T (p.Phe143=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2826303	NM_001159699.2(FHL1):c.246C>T (p.Phe82=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2825644	NM_001159699.2(FHL1):c.549+20C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2823733	NM_001159699.2(FHL1):c.549+4T>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	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 2815383	NM_001159699.2(FHL1):c.380-14G>A	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2813074	NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)	FHL1 (Y237* +2 more)	Duplication (nonsense +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
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 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 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 2797468	NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)	FHL1 (T315S +5 more)	Single nucleotide variant (nonsense +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2794363	NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)	FHL1 (Y133C +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2790346	NM_001159699.2(FHL1):c.738G>T (p.Gly246=)	FHL1 (G297V +2 more)	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2790314	NM_001159699.2(FHL1):c.588C>A (p.Pro196=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2788103	NM_001159699.2(FHL1):c.380-10C>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2778143	NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)	FHL1 (S169R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2771334	NM_001159699.2(FHL1):c.552C>T (p.Ala184=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
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 2768223	NM_001159699.2(FHL1):c.240C>T (p.Thr80=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
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 2767783	NM_001159699.2(FHL1):c.870C>A (p.Pro290=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2760306	NM_001159699.2(FHL1):c.600T>C (p.Asp200=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2759614	NM_001159699.2(FHL1):c.737-13T>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2756920	NM_001159699.2(FHL1):c.380-6C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2756452	NM_001159699.2(FHL1):c.834dup (p.Arg279fs)	FHL1 (R279fs +2 more)	Duplication (frameshift variant +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2747553	NM_001159699.2(FHL1):c.780C>A (p.Ser260=)	FHL1 (P198H +2 more)	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
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 2737373	NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)	FHL1 (C182W +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2737372	NM_001159699.2(FHL1):c.339dup (p.Ser114fs)	FHL1 (S114fs +2 more)	Duplication (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2736335	NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)	FHL1 (C142S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2731423	NM_001159699.2(FHL1):c.825G>C (p.Leu275=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2729333	NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)	FHL1 (T185N +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2726036	NM_001159699.2(FHL1):c.379+11C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2713491	NM_001159699.2(FHL1):c.876T>C (p.Cys292=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2711430	NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)	FHL1 (Q129K +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
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 2661499	NM_001159702.3(FHL1):c.-26-9571C>T	FHL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 2585952	NM_001159699.2(FHL1):c.516dup (p.Lys173fs)	FHL1 (K157fs +2 more)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 2581207	NM_001159702.3(FHL1):c.754G>A (p.Gly252Arg)	FHL1 (G252R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579218	GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0	FHL1	Copy number loss	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2578367	NM_001159699.2(FHL1):c.506G>T (p.Cys169Phe)	FHL1 (C153F +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, reducing body, X-linked, early-onset, severe	GLikely pathogenic
Select item 2572619	NM_001159699.2(FHL1):c.575dup (p.Tyr192Ter)	FHL1 (Y176* +2 more)	Duplication (nonsense +2 more)	Myopathy, reducing body, X-linked, early-onset, severe	GLikely pathogenic
Select item 2565498	NM_001159699.2(FHL1):c.515C>T (p.Thr172Ile)	FHL1 (T185I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2565497	NM_001159699.2(FHL1):c.344_345del (p.Pro115fs)	FHL1 (P128fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 2565496	NM_001159699.2(FHL1):c.287T>C (p.Phe96Ser)	FHL1 (F109S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 2553293	NM_001159699.2(FHL1):c.222C>A (p.Asn74Lys)	FHL1 (N58K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505924	NM_001159702.3(FHL1):c.863G>A (p.Arg288Gln)	FHL1 (R288Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2450879	NM_001159699.2(FHL1):c.54G>A (p.Ala18=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2450878	NM_001159699.2(FHL1):c.458G>T (p.Gly153Val)	FHL1 (G153V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 2450876	NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)	FHL1 (A202V +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2450874	NM_001159699.2(FHL1):c.353A>G (p.Lys118Arg)	FHL1 (K118R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 2441436	NM_001159699.2(FHL1):c.254C>G (p.Ala85Gly)	FHL1 (A69G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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