ClinVar for Gene (Select 26509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239089	NM_013451.4(MYOF):c.1417+3A>C	MYOF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3167946	NM_013451.4(MYOF):c.946A>G (p.Met316Val)	MYOF (M316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167940	NM_013451.4(MYOF):c.940G>C (p.Gly314Arg)	MYOF (G314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167934	NM_013451.4(MYOF):c.725A>T (p.Asp242Val)	MYOF (D242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167929	NM_013451.4(MYOF):c.671T>A (p.Val224Asp)	MYOF (V224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167926	NM_013451.4(MYOF):c.6127G>A (p.Val2043Met)	MYOF (V2030M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167921	NM_013451.4(MYOF):c.6120C>A (p.Phe2040Leu)	MYOF (F2027L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167914	NM_013451.4(MYOF):c.5959C>T (p.Arg1987Trp)	MYOF (R1974W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167907	NM_013451.4(MYOF):c.5932G>A (p.Ala1978Thr)	MYOF (A1965T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167903	NM_013451.4(MYOF):c.5921A>G (p.Asn1974Ser)	MYOF (N1961S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167897	NM_013451.4(MYOF):c.5878C>T (p.Arg1960Cys)	MYOF (R1947C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167886	NM_013451.4(MYOF):c.5785G>A (p.Ala1929Thr)	MYOF (A1916T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167879	NM_013451.4(MYOF):c.5719C>T (p.Arg1907Cys)	MYOF (R1907C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167859	NM_013451.4(MYOF):c.5372G>A (p.Arg1791His)	MYOF (R1791H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167846	NM_013451.4(MYOF):c.5104G>A (p.Gly1702Arg)	MYOF (G1689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167827	NM_013451.4(MYOF):c.4870G>T (p.Asp1624Tyr)	MYOF (D1624Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167822	NM_013451.4(MYOF):c.4819G>A (p.Glu1607Lys)	MYOF (E1594K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167815	NM_013451.4(MYOF):c.4789A>C (p.Thr1597Pro)	MYOF (T1597P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167813	NM_013451.4(MYOF):c.4723G>C (p.Asp1575His)	MYOF (D1562H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167807	NM_013451.4(MYOF):c.4645G>A (p.Val1549Ile)	MYOF (V1536I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167803	NM_013451.4(MYOF):c.4568C>T (p.Ser1523Phe)	MYOF (S1523F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167784	NM_013451.4(MYOF):c.408C>G (p.Ser136Arg)	MYOF (S136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167771	NM_013451.4(MYOF):c.3862C>T (p.Pro1288Ser)	MYOF (P1275S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167764	NM_013451.4(MYOF):c.3743T>G (p.Leu1248Arg)	MYOF (L1235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167761	NM_013451.4(MYOF):c.3725T>C (p.Met1242Thr)	MYOF (M1229T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167753	NM_013451.4(MYOF):c.3425G>A (p.Arg1142His)	MYOF (R1129H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167750	NM_013451.4(MYOF):c.3419A>G (p.His1140Arg)	MYOF (H1127R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167736	NM_013451.4(MYOF):c.3163T>G (p.Ser1055Ala)	MYOF (S1042A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167731	NM_013451.4(MYOF):c.3160G>C (p.Ala1054Pro)	MYOF (A1054P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167715	NM_013451.4(MYOF):c.298C>T (p.Pro100Ser)	MYOF (P100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167712	NM_013451.4(MYOF):c.2960C>T (p.Ala987Val)	MYOF (A974V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167707	NM_013451.4(MYOF):c.2845G>A (p.Ala949Thr)	MYOF (A949T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167698	NM_013451.4(MYOF):c.2558C>T (p.Ala853Val)	MYOF (A840V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167689	NM_013451.4(MYOF):c.2487G>T (p.Lys829Asn)	MYOF (K816N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167677	NM_013451.4(MYOF):c.2263G>A (p.Glu755Lys)	MYOF (E742K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167671	NM_013451.4(MYOF):c.2220G>A (p.Met740Ile)	MYOF (M740I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167662	NM_013451.4(MYOF):c.2174T>C (p.Leu725Pro)	MYOF (L725P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167644	NM_013451.4(MYOF):c.1868T>C (p.Val623Ala)	MYOF (V623A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167641	NM_013451.4(MYOF):c.164G>C (p.Arg55Thr)	MYOF (R55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167635	NM_013451.4(MYOF):c.1594G>A (p.Ala532Thr)	MYOF (A519T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167630	NM_013451.4(MYOF):c.1489C>T (p.Pro497Ser)	MYOF (P484S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167618	NM_013451.4(MYOF):c.1366A>G (p.Thr456Ala)	MYOF (T456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167616	NM_013451.4(MYOF):c.1363G>A (p.Gly455Arg)	MYOF (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167606	NM_013451.4(MYOF):c.1326A>G (p.Ile442Met)	MYOF (I442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167592	NM_013451.4(MYOF):c.1152A>G (p.Ile384Met)	MYOF (I384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068251	NM_013451.4(MYOF):c.1714C>T (p.Arg572Trp)	MYOF (R559W +1 more)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 7	GLikely pathogenic
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3058987	NM_013451.4(MYOF):c.1533A>G (p.Arg511=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GBenign
Select item 3056154	NM_013451.4(MYOF):c.5409C>T (p.Asp1803=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GBenign
Select item 3056007	NM_013451.4(MYOF):c.5397C>T (p.Asp1799=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GBenign
Select item 3049112	NM_013451.4(MYOF):c.2766G>A (p.Glu922=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3047315	NM_013451.4(MYOF):c.378G>T (p.Pro126=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3043909	NM_013451.4(MYOF):c.3697T>A (p.Ser1233Thr)	MYOF (S1220T +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 3043658	NM_013451.4(MYOF):c.4237C>G (p.Pro1413Ala)	MYOF (P1400A +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 3043329	NM_013451.4(MYOF):c.3922-10G>A	MYOF	Single nucleotide variant (intron variant)	MYOF-related disorder	GLikely benign
Select item 3042952	NM_013451.4(MYOF):c.469T>C (p.Leu157=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3042231	NM_013451.4(MYOF):c.5591C>T (p.Ala1864Val)	MYOF (A1851V +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder +1 more	GLikely benign
Select item 3040304	NM_013451.4(MYOF):c.5922C>T (p.Asn1974=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3038955	NM_013451.4(MYOF):c.4015G>A (p.Glu1339Lys)	MYOF (E1326K +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 3035816	NM_013451.4(MYOF):c.341C>T (p.Thr114Ile)	MYOF (T114I)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 3035327	NM_013451.4(MYOF):c.3544C>T (p.Leu1182=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3035292	NM_013451.4(MYOF):c.5959C>A (p.Arg1987=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3034968	NM_013451.4(MYOF):c.2783C>T (p.Thr928Met)	MYOF (T915M +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder +1 more	GBenign/Likely benign
Select item 3034965	NM_013451.4(MYOF):c.4482G>A (p.Leu1494=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3034344	NM_013451.4(MYOF):c.2895C>T (p.Ser965=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GBenign
Select item 3026407	NM_013451.4(MYOF):c.6059T>C (p.Val2020Ala)	MYOF (V2007A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025268	NM_013451.4(MYOF):c.2940G>A (p.Trp980Ter)	MYOF (W967* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2672407	NM_013451.4(MYOF):c.3206A>G (p.Asp1069Gly)	MYOF (D1056G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2672406	NM_013451.4(MYOF):c.3223C>T (p.Arg1075Cys)	MYOF (R1062C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672274	NM_013451.4(MYOF):c.1679A>C (p.Asp560Ala)	MYOF (D547A +1 more)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 7	GBenign
Select item 2640699	NM_013451.4(MYOF):c.60G>A (p.Pro20=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640698	NM_013451.4(MYOF):c.249G>A (p.Thr83=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640697	NM_013451.4(MYOF):c.252G>A (p.Ala84=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640696	NM_013451.4(MYOF):c.1608G>A (p.Arg536=)	MYOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2640695	NM_013451.4(MYOF):c.1643C>T (p.Thr548Ile)	MYOF (T535I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2640694	NM_013451.4(MYOF):c.2232C>T (p.Ala744=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640693	NM_013451.4(MYOF):c.2733G>C (p.Trp911Cys)	MYOF (W898C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640692	NM_013451.4(MYOF):c.3215G>A (p.Arg1072His)	MYOF (R1059H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640691	NM_013451.4(MYOF):c.3309C>T (p.Thr1103=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640690	NM_013451.4(MYOF):c.3511C>T (p.Arg1171Trp)	MYOF (R1158W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640689	NM_013451.4(MYOF):c.4200T>A (p.Phe1400Leu)	MYOF (F1387L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640688	NM_013451.4(MYOF):c.4311A>G (p.Pro1437=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640687	NM_013451.4(MYOF):c.5347C>T (p.Arg1783Trp)	MYOF (R1770W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640686	NM_013451.4(MYOF):c.5586C>T (p.Ile1862=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640685	NM_013451.4(MYOF):c.5667C>A (p.Asp1889Glu)	MYOF (D1876E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640684	NM_013451.4(MYOF):c.5767A>T (p.Met1923Leu)	MYOF (M1910L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640683	NM_013451.4(MYOF):c.5990A>G (p.Asp1997Gly)	MYOF (D1984G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2620468	NM_013451.4(MYOF):c.1742A>G (p.His581Arg)	MYOF (H581R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618720	NM_013451.4(MYOF):c.562A>G (p.Ser188Gly)	MYOF (S188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616182	NM_013451.4(MYOF):c.3688A>G (p.Ser1230Gly)	MYOF (S1217G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613545	NM_013451.4(MYOF):c.4970A>T (p.Glu1657Val)	MYOF (E1644V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609761	NM_013451.4(MYOF):c.3998G>A (p.Cys1333Tyr)	MYOF (C1320Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607939	NM_013451.4(MYOF):c.1378C>T (p.His460Tyr)	MYOF (H460Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600581	NM_013451.4(MYOF):c.3224G>A (p.Arg1075His)	MYOF (R1075H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600258	NM_013451.4(MYOF):c.3851C>A (p.Pro1284His)	MYOF (P1284H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2598806	NM_013451.4(MYOF):c.569G>A (p.Arg190Gln)	MYOF (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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