ClinVar (all) for Orgtrack (Select 506341) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587706	NM_002470.4(MYH3):c.-9+1G>A	MYH3	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 587705	NM_002470.3(MYH3):c.[721A>G;724_725delTCinsTT]	MYH3 (S242F +1 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +1 more	GUncertain significance
Select item 587704	NM_002470.4(MYH3):c.1411-391_1411-219del	MYH3	Deletion (intron variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +1 more	GPathogenic
Select item 587703	NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)	MYH3 (Y47*)	Single nucleotide variant (nonsense)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +1 more	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 587701	NM_002470.4(MYH3):c.4647+1G>A	MYH3	Single nucleotide variant (splice donor variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +1 more	GPathogenic
Select item 503890	NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs)	MYH3 (N662fs)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 488069	NM_001110556.2(FLNA):c.2280+389T>A	FLNA	Single nucleotide variant (intron variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +1 more	GPathogenic
Select item 488068	NM_001110556.2(FLNA):c.82A>G (p.Met28Val)	FLNA (M28V)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant	GPathogenic
Select item 488067	NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)	FLNA	Single nucleotide variant (synonymous variant)	Frontometaphyseal dysplasia +3 more	GPathogenic
Select item 488066	NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys)	FLNA (R285C)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +4 more	GUncertain significance
Select item 488065	NM_001110556.2(FLNA):c.18_19del (p.Arg7fs)	FLNA (R7fs)	Microsatellite (frameshift variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +1 more	GPathogenic