ClinVar for Gene (Select 4621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374714	NM_002470.4(MYH3):c.3252A>G (p.Lys1084=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3373230	NM_002470.4(MYH3):c.3985G>A (p.Ala1329Thr)	MYH3 (A1329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370643	NM_002470.4(MYH3):c.4051G>A (p.Glu1351Lys)	MYH3 (E1351K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368109	NM_002470.4(MYH3):c.1836G>T (p.Lys612Asn)	MYH3 (K612N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367704	NM_002470.4(MYH3):c.460C>T (p.His154Tyr)	MYH3 (H154Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367566	NM_002470.4(MYH3):c.989T>C (p.Leu330Pro)	MYH3 (L330P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367105	NM_002470.4(MYH3):c.3472A>C (p.Thr1158Pro)	MYH3 (T1158P)	Single nucleotide variant (missense variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B	GUncertain significance
Select item 3366249	NM_002470.4(MYH3):c.3206A>G (p.Asp1069Gly)	MYH3 (D1069G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365652	NM_002470.4(MYH3):c.2119A>G (p.Arg707Gly)	MYH3 (R707G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365388	NM_002470.4(MYH3):c.1917G>C (p.Lys639Asn)	MYH3 (K639N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355909	NM_002470.4(MYH3):c.4214T>C (p.Val1405Ala)	MYH3 (V1405A)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 3350377	NM_002470.4(MYH3):c.1005C>T (p.Ser335=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder	GLikely benign
Select item 3349582	NM_002470.4(MYH3):c.161G>A (p.Ser54Asn)	MYH3 (S54N)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 3347864	NM_002470.4(MYH3):c.2194C>G (p.Pro732Ala)	MYH3 (P732A)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 3341291	NM_002470.4(MYH3):c.3007dup (p.Ala1003fs)	MYH3 (A1003fs)	Duplication (frameshift variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B	GLikely pathogenic
Select item 3339646	NM_002470.4(MYH3):c.4313C>G (p.Ser1438Cys)	MYH3 (S1438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337353	NM_002470.4(MYH3):c.1271C>T (p.Ala424Val)	MYH3 (A424V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337351	NM_002470.4(MYH3):c.2488T>C (p.Trp830Arg)	MYH3 (W830R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297446	NM_002470.4(MYH3):c.4865A>T (p.Asp1622Val)	MYH3 (D1622V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297445	NM_002470.4(MYH3):c.4180C>G (p.Leu1394Val)	MYH3 (L1394V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297444	NM_002470.4(MYH3):c.4183G>A (p.Ala1395Thr)	MYH3 (A1395T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297443	NM_002470.4(MYH3):c.3058T>A (p.Ser1020Thr)	MYH3 (S1020T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297442	NM_002470.4(MYH3):c.3890G>A (p.Ser1297Asn)	MYH3 (S1297N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297441	NM_002470.4(MYH3):c.425G>C (p.Gly142Ala)	MYH3 (G142A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297440	NM_002470.4(MYH3):c.4034G>A (p.Arg1345Gln)	MYH3 (R1345Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257399	NM_002470.4(MYH3):c.287A>T (p.His96Leu)	MYH3 (H96L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252994	NM_002470.4(MYH3):c.563A>T (p.Asn188Ile)	MYH3 (N188I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3251651	NM_002470.4(MYH3):c.2559G>A (p.Met853Ile)	MYH3 (M853I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243151	NC_000017.10:g.(?_10531970)_(10535073_?)dup	MYH3	Duplication	not provided	GUncertain significance
Select item 3243150	NC_000017.10:g.(?_10534908)_(10538360_?)del	MYH3	Deletion	not provided	GPathogenic
Select item 3243149	NC_000017.10:g.(?_10552874)_(10558381_?)del	MYH3	Deletion	not provided	GPathogenic
Select item 3238787	NM_002470.4(MYH3):c.4721A>T (p.Asp1574Val)	MYH3 (D1574V)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
Select item 3238766	NM_002470.4(MYH3):c.2467A>G (p.Met823Val)	MYH3 (M823V)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
Select item 3157723	NM_002470.4(MYH3):c.5010G>T (p.Glu1670Asp)	MYH3 (E1670D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157713	NM_002470.4(MYH3):c.4515C>G (p.Asn1505Lys)	MYH3 (N1505K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157691	NM_002470.4(MYH3):c.4097A>G (p.Asn1366Ser)	MYH3 (N1366S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157636	NM_002470.4(MYH3):c.3353A>G (p.Glu1118Gly)	MYH3 (E1118G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157631	NM_002470.4(MYH3):c.3201A>G (p.Ile1067Met)	MYH3 (I1067M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157630	NM_002470.4(MYH3):c.3188C>T (p.Ala1063Val)	MYH3 (A1063V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157586	NM_002470.4(MYH3):c.2110C>T (p.Arg704Cys)	MYH3 (R704C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157577	NM_002470.4(MYH3):c.2030A>G (p.Asn677Ser)	MYH3 (N677S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157566	NM_002470.4(MYH3):c.164C>G (p.Ser55Cys)	MYH3 (S55C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157555	NM_002470.4(MYH3):c.104A>G (p.Lys35Arg)	MYH3 (K35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148971	NM_002470.4(MYH3):c.605_606insCCTCCTCTGTCCCTACACCTCATACCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA (p.Thr202_Gly203insLeuLeuCysProTyrThrSerTyrProSerTrpProProAlaGluAlaGlnAlaGlnAlaSerAlaLeuThrLeuProSerCysGlnGlnGluPheCysTyrGluIleLysHis)	MYH3	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3068638	NM_002470.4(MYH3):c.4496_4497del (p.Val1499fs)	MYH3 (V1499fs)	Microsatellite (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 3067595	NM_002470.4(MYH3):c.3321G>A (p.Lys1107=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3063618	NM_002470.4(MYH3):c.1259A>G (p.Gln420Arg)	MYH3 (Q420R)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 3063617	NM_002470.4(MYH3):c.1821T>G (p.Val607=)	MYH3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3061265	NM_002470.4(MYH3):c.1411-384A>T	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder	GLikely benign
Select item 3060103	NM_002470.4(MYH3):c.1960-11T>A	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder	GLikely benign
Select item 3054275	NM_002470.4(MYH3):c.4092G>A (p.Lys1364=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder	GLikely benign
Select item 3048698	NM_002470.4(MYH3):c.*5G>C	MYH3	Single nucleotide variant (3 prime UTR variant)	MYH3-related disorder	GLikely benign
Select item 3044434	NM_002470.4(MYH3):c.1411-378dup	MYH3	Duplication (intron variant)	MYH3-related disorder	GLikely benign
Select item 3035051	NM_002470.4(MYH3):c.4357-8T>G	LOC130060295, MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder	GLikely benign
Select item 3031572	NM_002470.4(MYH3):c.2466C>T (p.Phe822=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder	GLikely benign
Select item 3031340	NM_002470.4(MYH3):c.1411-264A>C	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder	GLikely benign
Select item 3030924	NM_002470.4(MYH3):c.1411-243A>T	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder	GLikely benign
Select item 3030503	NM_002470.4(MYH3):c.1411-389dup	MYH3	Duplication (intron variant)	MYH3-related disorder	GLikely benign
Select item 3029969	NM_002470.4(MYH3):c.1411-378del	MYH3	Deletion (intron variant)	MYH3-related disorder	GLikely benign
Select item 3029954	NM_002470.4(MYH3):c.1411-389del	MYH3	Deletion (intron variant)	MYH3-related disorder	GLikely benign
Select item 3029417	NM_002470.4(MYH3):c.4771_4773del (p.Tyr1591del)	MYH3 (Y1591del)	Deletion	MYH3-related disorder	GUncertain significance
Select item 3028963	NM_002470.4(MYH3):c.1443C>T (p.Phe481=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder	GLikely benign
Select item 3023560	NM_002470.4(MYH3):c.2925+3A>G	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020190	NM_002470.4(MYH3):c.4682G>A (p.Arg1561Gln)	MYH3 (R1561Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017025	NM_002470.4(MYH3):c.1965C>T (p.Asn655=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016855	NM_002470.4(MYH3):c.5087C>T (p.Thr1696Met)	MYH3 (T1696M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016030	NM_002470.4(MYH3):c.205-8C>G	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015713	NM_002470.4(MYH3):c.3397A>G (p.Thr1133Ala)	MYH3 (T1133A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014877	NM_002470.4(MYH3):c.899-11T>C	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014478	NM_002470.4(MYH3):c.1041A>G (p.Lys347=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014305	NM_002470.4(MYH3):c.4049A>C (p.Glu1350Ala)	MYH3 (E1350A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013347	NM_002470.4(MYH3):c.1080C>T (p.Tyr360=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013318	NM_002470.4(MYH3):c.2925+5T>A	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3012505	NM_002470.4(MYH3):c.4453C>G (p.Leu1485Val)	MYH3 (L1485V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012403	NM_002470.4(MYH3):c.2719G>A (p.Asp907Asn)	MYH3 (D907N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011791	NM_002470.4(MYH3):c.235G>A (p.Ala79Thr)	MYH3 (A79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011326	NM_002470.4(MYH3):c.3359A>T (p.Glu1120Val)	MYH3 (E1120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010313	NM_002470.4(MYH3):c.30C>T (p.Phe10=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009705	NM_002470.4(MYH3):c.5205C>T (p.Leu1735=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009395	NM_002470.4(MYH3):c.3414C>T (p.Ser1138=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008581	NM_002470.4(MYH3):c.3687C>A (p.Ile1229=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008025	NM_002470.4(MYH3):c.5161-20C>G	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007996	NM_002470.4(MYH3):c.5788T>A (p.Ser1930Thr)	MYH3 (S1930T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007869	NM_002470.4(MYH3):c.3633G>T (p.Leu1211=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007074	NM_002470.4(MYH3):c.594A>T (p.Thr198=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005397	NM_002470.4(MYH3):c.318G>A (p.Leu106=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005301	NM_002470.4(MYH3):c.3526C>T (p.Arg1176Cys)	MYH3 (R1176C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001170	NM_002470.4(MYH3):c.4709A>T (p.Lys1570Ile)	MYH3 (K1570I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000336	NM_002470.4(MYH3):c.4581G>A (p.Leu1527=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997988	NM_002470.4(MYH3):c.748C>T (p.Arg250Ter)	MYH3 (R250*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2997957	NM_002470.4(MYH3):c.26T>C (p.Val9Ala)	MYH3 (V9A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997364	NM_002470.4(MYH3):c.690C>T (p.Ala230=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993691	NM_002470.4(MYH3):c.1260+20G>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992518	NM_002470.4(MYH3):c.2377T>G (p.Cys793Gly)	MYH3 (C793G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992478	NM_002470.4(MYH3):c.3415G>A (p.Asp1139Asn)	MYH3 (D1139N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991452	NM_002470.4(MYH3):c.5499G>A (p.Lys1833=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990231	NM_002470.4(MYH3):c.213G>T (p.Val71=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989915	NM_002470.4(MYH3):c.118G>T (p.Val40Leu)	MYH3 (V40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989483	NM_002470.4(MYH3):c.3355C>G (p.Leu1119Val)	MYH3 (L1119V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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