ClinVar for MedGen (Select 1676839) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575060	NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)	MYH3 (K235E)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +2 more	GLikely pathogenic
Select item 1330222	NM_002470.4(MYH3):c.1624C>A (p.Pro542Thr)	MYH3 (P542T)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GLikely pathogenic
Select item 1262563	NM_002470.4(MYH3):c.643-43dup	MYH3	Duplication (intron variant)	not provided +4 more	GBenign
Select item 1222180	NM_002470.4(MYH3):c.2682+30_2682+31del	MYH3	Deletion (intron variant)	not provided +4 more	GBenign
Select item 982993	NM_002470.4(MYH3):c.2473G>A (p.Val825Ile)	MYH3 (V825I)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3 +1 more	GUncertain significance
Select item 973882	NM_002470.4(MYH3):c.2891A>G (p.Lys964Arg)	MYH3 (K964R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 931908	NM_002470.4(MYH3):c.2392A>G (p.Met798Val)	MYH3 (M798V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GUncertain significance
Select item 931339	NM_002470.4(MYH3):c.5251A>G (p.Asn1751Asp)	MYH3 (N1751D)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GUncertain significance
Select item 930995	NM_002470.4(MYH3):c.5473T>C (p.Phe1825Leu)	MYH3 (F1825L)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GUncertain significance
Select item 828124	NM_002470.4(MYH3):c.4405dup (p.Glu1469fs)	LOC130060295, MYH3 (E1469fs)	Duplication (frameshift variant)	Arthrogryposis, distal, type 2B3	GLikely pathogenic
Select item 694359	NM_002470.4(MYH3):c.1549G>T (p.Asp517Tyr)	MYH3 (D517Y)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GUncertain significance
Select item 694358	NM_002470.4(MYH3):c.782C>T (p.Ser261Phe)	MYH3 (S261F)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GLikely pathogenic
Select item 631471	NM_002470.4(MYH3):c.1160A>G (p.Tyr387Cys)	MYH3 (Y387C)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GPathogenic
Select item 587702	NM_002470.4(MYH3):c.1581+1G>A	MYH3	Single nucleotide variant (splice donor variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +2 more	GPathogenic/Likely pathogenic
Select item 321752	NM_002470.4(MYH3):c.1960-8del	MYH3	Deletion (intron variant)	not provided +5 more	GBenign/Likely 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 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 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 258695	NM_002470.4(MYH3):c.534-44T>C	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more	GBenign
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 258682	NM_002470.4(MYH3):c.349-43C>T	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more	GBenign
Select item 258681	NM_002470.4(MYH3):c.349-36A>G	MYH3	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 258680	NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys)	MYH3 (R1137C)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +6 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 258673	NM_002470.4(MYH3):c.2166-15A>G	MYH3	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
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 258668	NM_002470.4(MYH3):c.1141+32G>A	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and variable skeletal fusions syndrome 1B +5 more	GBenign
Select item 258667	NM_002470.4(MYH3):c.1003-22C>T	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more	GBenign
Select item 161596	NM_002470.4(MYH3):c.118G>A (p.Val40Met)	MYH3 (V40M)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +4 more	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 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 129656	NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +6 more	GBenign
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 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 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 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 14145	NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)	MYH3 (A234T)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +3 more	GLikely pathogenic
Select item 14144	NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly)	MYH3 (D462G)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3	GUncertain significance
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 14142	NM_002470.4(MYH3):c.2590_2592del (p.Leu864del)	MYH3 (L864del)	Deletion (inframe_deletion)	Arthrogryposis, distal, type 2B3	GPathogenic
Select item 14140	NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)	MYH3 (T178I)	Single nucleotide variant (missense variant)	MYH3-Related Disorders +3 more	GPathogenic

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Items: 43