"MYH3-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	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 condition	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 1392838	NM_002470.4(MYH3):c.5414C>T (p.Ala1805Val)	MYH3 (A1805V)	Single nucleotide variant (missense variant)	MYH3-related condition +1 more	GUncertain significance
Select item 321715	NM_002470.4(MYH3):c.5390G>A (p.Arg1797His)	MYH3 (R1797H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 condition	GUncertain significance
Select item 705417	NM_002470.4(MYH3):c.5301G>A (p.Ala1767=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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)	MYH3-related condition +1 more	GLikely benign
Select item 211555	NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)	MYH3 (A1637V)	Single nucleotide variant (missense variant)	MYH3-related condition +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)	MYH3-related condition +1 more	GUncertain significance
Select item 3029417	NM_002470.4(MYH3):c.4771_4773del (p.Tyr1591del)	MYH3 (Y1591del)	Deletion (inframe deletion)	MYH3-related condition	GUncertain significance
Select item 2157569	NM_002470.4(MYH3):c.4481A>C (p.Asp1494Ala)	MYH3 (D1494A)	Single nucleotide variant (missense variant)	MYH3-related condition +1 more	GUncertain significance
Select item 885072	NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg)	MYH3 (K1484R)	Single nucleotide variant (missense variant)	not provided +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 condition	GLikely benign
Select item 703812	NM_002470.4(MYH3):c.4137C>T (p.Asp1379=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GBenign/Likely benign
Select item 703813	NM_002470.4(MYH3):c.4098T>C (p.Asn1366=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +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 condition	GLikely benign
Select item 321729	NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val)	MYH3 (A1361V)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +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 2634011	NM_002470.4(MYH3):c.3661G>A (p.Glu1221Lys)	MYH3 (E1221K)	Single nucleotide variant (missense variant)	MYH3-related condition	GUncertain significance
Select item 1700424	NM_002470.4(MYH3):c.3629A>G (p.Asn1210Ser)	MYH3 (N1210S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321733	NM_002470.4(MYH3):c.3612T>C (p.Leu1204=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 321735	NM_002470.4(MYH3):c.3594G>A (p.Ala1198=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +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 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321739	NM_002470.4(MYH3):c.3462G>A (p.Ala1154=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 886115	NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)	MYH3 (E1149Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1425508	NM_002470.4(MYH3):c.3390C>T (p.Arg1130=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GLikely benign
Select item 258677	NM_002470.4(MYH3):c.2926-8C>T	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition +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 condition +1 more	GLikely benign
Select item 1404481	NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)	MYH3 (R926fs)	Microsatellite (frameshift variant)	MYH3-related condition +2 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 condition	GUncertain significance
Select item 1538554	NM_002470.4(MYH3):c.2748C>T (p.Leu916=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GLikely benign
Select item 258674	NM_002470.4(MYH3):c.2683-4T>C	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition +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 condition	GUncertain significance
Select item 3031572	NM_002470.4(MYH3):c.2466C>T (p.Phe822=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition	GLikely benign
Select item 2633898	NM_002470.4(MYH3):c.2264C>G (p.Thr755Ser)	MYH3 (T755S)	Single nucleotide variant (missense variant)	MYH3-related condition	GUncertain significance
Select item 3060103	NM_002470.4(MYH3):c.1960-11T>A	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition	GLikely benign
Select item 706169	NM_002470.4(MYH3):c.1722C>T (p.Ala574=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +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 condition +1 more	GLikely benign
Select item 1967799	NM_002470.4(MYH3):c.1566C>T (p.Ile522=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GLikely benign
Select item 704587	NM_002470.4(MYH3):c.1566C>A (p.Ile522=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +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 condition	GLikely pathogenic
Select item 2632798	NM_002470.4(MYH3):c.1472A>C (p.Asn491Thr)	MYH3 (N491T)	Single nucleotide variant (missense variant)	MYH3-related condition	GUncertain significance
Select item 3028963	NM_002470.4(MYH3):c.1443C>T (p.Phe481=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition	GLikely benign
Select item 2634010	NM_002470.4(MYH3):c.1421T>C (p.Leu474Pro)	MYH3 (L474P)	Single nucleotide variant (missense variant)	MYH3-related condition	GUncertain significance
Select item 321760	NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)	MYH3 (Y471H)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +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 condition	GLikely benign
Select item 3031340	NM_002470.4(MYH3):c.1411-264A>C	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition	GLikely benign
Select item 3044434	NM_002470.4(MYH3):c.1411-378dup	MYH3	Duplication (intron variant)	MYH3-related condition	GLikely benign
Select item 3029969	NM_002470.4(MYH3):c.1411-378del	MYH3	Deletion (intron variant)	MYH3-related condition	GLikely benign
Select item 3061265	NM_002470.4(MYH3):c.1411-384A>T	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition	GLikely benign
Select item 3030503	NM_002470.4(MYH3):c.1411-389dup	MYH3	Duplication (intron variant)	MYH3-related condition	GLikely benign
Select item 3029954	NM_002470.4(MYH3):c.1411-389del	MYH3	Deletion (intron variant)	MYH3-related condition	GLikely benign
Select item 2632255	NM_002470.4(MYH3):c.1372A>T (p.Ile458Phe)	MYH3 (I458F)	Single nucleotide variant (missense variant)	MYH3-related condition	GUncertain significance
Select item 2726362	NM_002470.4(MYH3):c.1233C>T (p.Tyr411=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GLikely benign
Select item 14143	NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)	MYH3 (E375K)	Single nucleotide variant (missense variant)	MYH3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2631948	NM_002470.4(MYH3):c.1002+5G>A	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition +1 more	GUncertain significance
Select item 2032160	NM_002470.4(MYH3):c.1002C>T (p.Asp334=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 211557	NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)	MYH3 (S292C)	Single nucleotide variant (missense variant)	MYH3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 258704	NM_002470.4(MYH3):c.774G>A (p.Lys258=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +4 more	GBenign
Select item 321767	NM_002470.4(MYH3):c.736-6A>G	MYH3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321768	NM_002470.4(MYH3):c.642+10G>A	MYH3	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 2859798	NM_002470.4(MYH3):c.615G>A (p.Leu205=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636447	NM_002470.4(MYH3):c.533+1G>A	MYH3	Single nucleotide variant (splice donor variant)	MYH3-related condition +1 more	GLikely pathogenic
Select item 2175720	NM_002470.4(MYH3):c.431G>A (p.Arg144Gln)	MYH3 (R144Q)	Single nucleotide variant (missense variant)	MYH3-related condition +1 more	GUncertain significance
Select item 767566	NM_002470.4(MYH3):c.417G>C (p.Val139=)	MYH3	Single nucleotide variant (synonymous variant)	MYH3-related condition +1 more	GLikely benign
Select item 321771	NM_002470.4(MYH3):c.412G>A (p.Glu138Lys)	MYH3 (E138K)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 1683807	NM_002470.4(MYH3):c.398C>T (p.Pro133Leu)	MYH3 (P133L)	Single nucleotide variant (missense variant)	MYH3-related condition +1 more	GUncertain significance
Select item 258683	NM_002470.4(MYH3):c.349-7C>T	MYH3	Single nucleotide variant (intron variant)	MYH3-related condition +3 more	GBenign
Select item 321772	NM_002470.4(MYH3):c.252G>A (p.Lys84=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +4 more	GBenign/Likely benign
Select item 2628501	NM_002470.4(MYH3):c.31G>A (p.Gly11Ser)	MYH3 (G11S)	Single nucleotide variant (missense variant)	MYH3-related condition	GUncertain significance
Select item 587706	NM_002470.4(MYH3):c.-9+1G>A	MYH3	Single nucleotide variant (splice donor variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76