ClinVar for MedGen (Select 395525) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024542	NM_000117.3(EMD):c.22del (p.Ser8fs)	EMD (S8fs)	Deletion (frameshift variant)	X-linked myopathy with postural muscle atrophy	GLikely pathogenic
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 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 2579218	GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0	FHL1	Copy number loss	X-linked myopathy with postural muscle atrophy	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 2450876	NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)	FHL1 (A202V +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 2441434	NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)	FHL1 (F231S +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 2197920	NM_001159699.2(FHL1):c.737-11T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2186341	NM_001159699.2(FHL1):c.111A>G (p.Gln37=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 2180087	NM_001159699.2(FHL1):c.379+7C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2158482	NM_001159699.2(FHL1):c.549+3A>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2133022	NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)	FHL1 (C302R +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2129653	NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)	FHL1 (E285* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2129109	NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)	FHL1 (K140R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2126219	NM_001159699.2(FHL1):c.831del (p.Asn277fs)	FHL1 (N290fs +2 more)	Deletion (3 prime UTR variant +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2123783	NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)	FHL1 (L88fs +2 more)	Deletion (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
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 2118351	NM_001159699.2(FHL1):c.518del (p.Lys173fs)	FHL1 (K173fs +2 more)	Deletion (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
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 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 2109292	NM_001159699.2(FHL1):c.757G>A (p.Val253Met)	FHL1 (V237M +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2102114	NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)	FHL1 (Y85F +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2100641	NM_001159699.2(FHL1):c.530A>G (p.His177Arg)	FHL1 (H161R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2095769	NM_001159699.2(FHL1):c.550-16A>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2086451	NM_001159699.2(FHL1):c.261C>T (p.Cys87=)	FHL1	Single nucleotide variant (non-coding transcript variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2084339	NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)	FHL1 (V167G +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2063853	NM_001159699.2(FHL1):c.549+4T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2052800	NM_001159699.2(FHL1):c.737-6C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2018764	NM_001159699.2(FHL1):c.736+9A>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2018763	NM_001159699.2(FHL1):c.736+5G>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2018762	NM_001159699.2(FHL1):c.736+3_736+4del	FHL1	Deletion (intron variant)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 2017453	NM_001159699.2(FHL1):c.812dup (p.Cys271fs)	FHL1 (A209fs +5 more)	Duplication (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 2014837	NM_001159699.2(FHL1):c.525C>T (p.Ala175=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 2006787	NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)	FHL1 (Y208* +2 more)	Single nucleotide variant (nonsense +2 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
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 2000074	NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)	FHL1 (A218G +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1999723	NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)	FHL1 (C252R +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy	GUncertain significance
Select item 1994255	NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)	FHL1 (E132fs +2 more)	Duplication (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 1992258	NM_001159699.2(FHL1):c.823C>T (p.Leu275=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	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 1981891	NM_001159699.2(FHL1):c.837C>A (p.Arg279=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy	GLikely benign
Select item 1981289	NM_001159699.2(FHL1):c.391G>A (p.Val131Met)	FHL1 (V131M +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

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