"SIB Swiss Institute of Bioinformatics"[submitter] AND "MYH3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 634840	NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)	MYH3 (L1344P)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
Select item 694360	NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser)	MYH3 (Y583S)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome	GPathogenic
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 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 634839	NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)	MYH3 (T333R)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GLikely pathogenic
Select item 634841	NM_002470.4(MYH3):c.859T>G (p.Phe287Val)	MYH3 (F287V)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GLikely pathogenic
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 14140	NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)	MYH3 (T178I)	Single nucleotide variant (missense variant)	MYH3-Related Disorders +3 more	GPathogenic