"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYH3"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 258702	NM_002470.4(MYH3):c.5796+32del	MYH3	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258701	NM_002470.4(MYH3):c.5796+30C>T	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more	GBenign
Select item 258700	NM_002470.4(MYH3):c.5796+29C>G	MYH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2072412	NM_002470.4(MYH3):c.5677C>T (p.His1893Tyr)	MYH3 (H1893Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258699	NM_002470.4(MYH3):c.5658+49G>A	MYH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258697	NM_002470.4(MYH3):c.5457+29T>C	MYH3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258698	NM_002470.4(MYH3):c.5457+9dup	MYH3	Duplication (intron variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +6 more	GBenign/Likely benign
Select item 129665	NM_002470.4(MYH3):c.5457+3G>A	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +3 more	GBenign
Select item 1392838	NM_002470.4(MYH3):c.5414C>T (p.Ala1805Val)	MYH3 (A1805V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321715	NM_002470.4(MYH3):c.5390G>A (p.Arg1797His)	MYH3 (R1797H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2629645	NM_002470.4(MYH3):c.5308C>A (p.Leu1770Met)	MYH3 (L1770M)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 705417	NM_002470.4(MYH3):c.5301G>A (p.Ala1767=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 129664	NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr)	MYH3 (A1752T)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +3 more	GBenign
Select item 258694	NM_002470.4(MYH3):c.5160+30G>T	MYH3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 258693	NM_002470.4(MYH3):c.5109G>A (p.Ala1703=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 733475	NM_002470.4(MYH3):c.5108C>T (p.Ala1703Val)	MYH3 (A1703V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 771968	NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala)	MYH3 (T1692A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2050165	NM_002470.4(MYH3):c.5007G>A (p.Lys1669=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 258691	NM_002470.4(MYH3):c.4957-16G>C	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more	GBenign
Select item 258690	NM_002470.4(MYH3):c.4956+32C>T	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more	GBenign
Select item 211555	NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)	MYH3 (A1637V)	Single nucleotide variant (missense variant)	MYH3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1471249	NM_002470.4(MYH3):c.4840C>T (p.Arg1614Trp)	MYH3 (R1614W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3029417	NM_002470.4(MYH3):c.4771_4773del (p.Tyr1591del)	MYH3 (Y1591del)	Deletion (inframe deletion)	MYH3-related disorder	GUncertain significance
Select item 129663	NM_002470.4(MYH3):c.4731C>T (p.Ile1577=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 258687	NM_002470.4(MYH3):c.4647+27G>A	MYH3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258688	NM_002470.4(MYH3):c.4647+6T>G	MYH3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 258686	NM_002470.4(MYH3):c.4523-42C>T	MYH3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258685	NM_002470.4(MYH3):c.4488T>G (p.Leu1496=)	MYH3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2157569	NM_002470.4(MYH3):c.4481A>C (p.Asp1494Ala)	MYH3 (D1494A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885072	NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg)	MYH3 (K1484R)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely 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 258684	NM_002470.4(MYH3):c.4356+11C>T	MYH3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 129662	NM_002470.4(MYH3):c.4155A>G (p.Glu1385=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 703812	NM_002470.4(MYH3):c.4137C>T (p.Asp1379=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129661	NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 703813	NM_002470.4(MYH3):c.4098T>C (p.Asn1366=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely 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 321729	NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val)	MYH3 (A1361V)	Single nucleotide variant (missense variant)	MYH3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2867861	NM_002470.4(MYH3):c.3996C>T (p.His1332=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 129660	NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile)	MYH3 (T1313I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 129659	NM_002470.4(MYH3):c.3726T>C (p.Ser1242=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2634011	NM_002470.4(MYH3):c.3661G>A (p.Glu1221Lys)	MYH3 (E1221K)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 1700424	NM_002470.4(MYH3):c.3629A>G (p.Asn1210Ser)	MYH3 (N1210S)	Single nucleotide variant (missense variant)	MYH3-related disorder +1 more	GUncertain significance
Select item 321733	NM_002470.4(MYH3):c.3612T>C (p.Leu1204=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +3 more	GBenign/Likely benign
Select item 321735	NM_002470.4(MYH3):c.3594G>A (p.Ala1198=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +3 more	GBenign/Likely benign
Select item 211552	NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)	MYH3 (A1198T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1895737	NM_002470.4(MYH3):c.3576G>A (p.Ala1192=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 129658	NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr)	MYH3 (A1192T)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 321738	NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)	MYH3 (T1160M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3 +4 more	GConflicting classifications of pathogenicity
Select item 885220	NM_002470.4(MYH3):c.3468C>T (p.Gly1156=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +3 more	GConflicting classifications of pathogenicity
Select item 321739	NM_002470.4(MYH3):c.3462G>A (p.Ala1154=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +3 more	GBenign/Likely benign
Select item 886115	NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)	MYH3 (E1149Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 258680	NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys)	MYH3 (R1137C)	Single nucleotide variant (missense variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +6 more	GBenign/Likely benign
Select item 1425508	NM_002470.4(MYH3):c.3390C>T (p.Arg1130=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +1 more	GLikely benign
Select item 129657	NM_002470.4(MYH3):c.3348T>C (p.Ile1116=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 129656	NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +6 more	GBenign
Select item 258679	NM_002470.4(MYH3):c.3078C>T (p.Ser1026=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 258678	NM_002470.4(MYH3):c.3072C>G (p.Thr1024=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129655	NM_002470.4(MYH3):c.3009G>A (p.Ala1003=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 129654	NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val)	MYH3 (A1003V)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +3 more	GBenign/Likely benign
Select item 129653	NM_002470.4(MYH3):c.2952T>C (p.Ser984=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 258677	NM_002470.4(MYH3):c.2926-8C>T	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder +3 more	GBenign/Likely benign
Select item 258676	NM_002470.4(MYH3):c.2926-12A>G	MYH3	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 129652	NM_002470.4(MYH3):c.2916A>G (p.Thr972=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 258675	NM_002470.4(MYH3):c.2883C>A (p.Thr961=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 707608	NM_002470.4(MYH3):c.2814G>A (p.Thr938=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +1 more	GLikely benign
Select item 1404481	NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)	MYH3 (R926fs)	Microsatellite (frameshift variant)	MYH3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2630061	NM_002470.4(MYH3):c.2768T>C (p.Val923Ala)	MYH3 (V923A)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 1538554	NM_002470.4(MYH3):c.2748C>T (p.Leu916=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 258674	NM_002470.4(MYH3):c.2683-4T>C	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder +3 more	GBenign/Likely benign
Select item 2635997	NM_002470.4(MYH3):c.2631A>C (p.Lys877Asn)	MYH3 (K877N)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 129651	NM_002470.4(MYH3):c.2610A>G (p.Lys870=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 129650	NM_002470.4(MYH3):c.2532A>G (p.Ala844=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
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 2633898	NM_002470.4(MYH3):c.2264C>G (p.Thr755Ser)	MYH3 (T755S)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 258673	NM_002470.4(MYH3):c.2166-15A>G	MYH3	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 129649	NM_002470.4(MYH3):c.2151C>A (p.Gly717=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 129648	NM_002470.4(MYH3):c.2106C>T (p.Gly702=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3060103	NM_002470.4(MYH3):c.1960-11T>A	MYH3	Single nucleotide variant (intron variant)	MYH3-related disorder	GLikely benign
Select item 706169	NM_002470.4(MYH3):c.1722C>T (p.Ala574=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +1 more	GBenign/Likely benign
Select item 1635155	NM_002470.4(MYH3):c.1638C>T (p.Asp546=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related disorder +1 more	GLikely benign
Select item 258671	NM_002470.4(MYH3):c.1581+13A>C	MYH3	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 258670	NM_002470.4(MYH3):c.1575C>T (p.Ile525=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign/Likely benign
Select item 1967799	NM_002470.4(MYH3):c.1566C>T (p.Ile522=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 704587	NM_002470.4(MYH3):c.1566C>A (p.Ile522=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2829088	NM_002470.4(MYH3):c.1542C>T (p.Phe514=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2629417	NM_002470.4(MYH3):c.1535T>C (p.Ile512Thr)	MYH3 (I512T)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 2632798	NM_002470.4(MYH3):c.1472A>C (p.Asn491Thr)	MYH3 (N491T)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 258669	NM_002470.4(MYH3):c.1446C>T (p.Thr482=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2634010	NM_002470.4(MYH3):c.1421T>C (p.Leu474Pro)	MYH3 (L474P)	Single nucleotide variant (missense variant)	MYH3-related disorder	GUncertain significance
Select item 321760	NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)	MYH3 (Y471H)	Single nucleotide variant (missense variant)	MYH3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3030924	NM_002470.4(MYH3):c.1411-243A>T	MYH3	Single nucleotide variant (intron 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 3044434	NM_002470.4(MYH3):c.1411-378dup	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 3061265	NM_002470.4(MYH3):c.1411-384A>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 3029954	NM_002470.4(MYH3):c.1411-389del	MYH3	Deletion (intron variant)	MYH3-related disorder	GLikely benign

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