C5193014[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94120	NM_003282.4(TNNI2):c.60T>C (p.Ser20=)	TNNI2	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +2 more	GBenign/Likely benign
Select item 31872	NM_006757.4(TNNT3):c.762C>T (p.Gly254=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +3 more	GBenign/Likely benign
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 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 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 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 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 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 258671	NM_002470.4(MYH3):c.1581+13A>C	MYH3	Single nucleotide variant (intron variant)	not specified +6 more	GBenign