ClinVar for MedGen (Select 401232) - ClinVar

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Items: 48

	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 2572550	NM_002470.4(MYH3):c.730C>T (p.Arg244Cys)	MYH3 (R244C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2572488	NM_002470.4(MYH3):c.1156G>T (p.Ala386Ser)	MYH3 (A386S)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
Select item 2572458	NM_002470.4(MYH3):c.3227A>C (p.Gln1076Pro)	MYH3 (Q1076P)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
Select item 1932820	NM_002470.4(MYH3):c.484G>A (p.Ala162Thr)	MYH3 (A162T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1708265	NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)	MYH3 (Q1371*)	Single nucleotide variant (nonsense)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +1 more	GPathogenic/Likely pathogenic
Select item 1514894	NM_002470.4(MYH3):c.2170C>T (p.Arg724Ter)	MYH3 (R724*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1065447	NM_002470.4(MYH3):c.5618A>C (p.Gln1873Pro)	MYH3 (Q1873P)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
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 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 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 587706	NM_002470.4(MYH3):c.-9+1G>A	MYH3	Single nucleotide variant (splice donor variant)	MYH3-related condition +5 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 587607	NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln)	MYH3 (E1377Q)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +3 more	GUncertain significance
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 321752	NM_002470.4(MYH3):c.1960-8del	MYH3	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
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 235829	NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup)	MYH3	Duplication (inframe_insertion)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GPathogenic
Select item 203472	NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)	MYH3 (S243del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 203471	NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro)	MYH3 (Q1075P)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GPathogenic
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

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Items: 48