ClinVar for MedGen (Select 341339) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366935	NM_001457.4(FLNB):c.3282_3283insAGCA (p.Cys1095fs)	FLNB (C1095fs)	Insertion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 3236714	NM_001457.4(FLNB):c.2774G>A (p.Gly925Asp)	FLNB (G925D)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 3068638	NM_002470.4(MYH3):c.4496_4497del (p.Val1499fs)	MYH3 (V1499fs)	Microsatellite (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 3065036	NM_001457.4(FLNB):c.5025del (p.Tyr1676fs)	FLNB (Y1676fs +1 more)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 2783467	NM_001457.4(FLNB):c.2892C>G (p.Phe964Leu)	FLNB (F964L)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2585626	NM_001457.4(FLNB):c.3535G>T (p.Glu1179Ter)	FLNB (E1179*)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 2505550	NM_001457.4(FLNB):c.219_222dup (p.Met75fs)	FLNB (M75fs)	Duplication (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 2502318	NM_001457.4(FLNB):c.2772del (p.Thr923_Tyr924insTer)	FLNB	Deletion (nonsense)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 1705319	NM_001457.4(FLNB):c.698del (p.Tyr233fs)	FLNB (Y233fs)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 1679891	NM_001457.4(FLNB):c.2471T>C (p.Leu824Pro)	FLNB (L824P)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome	GUncertain significance
Select item 1679680	NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val)	FLNB, FLNB-AS1 (L2427V +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome +2 more	GUncertain significance
Select item 1569345	NM_001457.4(FLNB):c.4986C>T (p.Ala1662=)	FLNB	Single nucleotide variant (synonymous variant)	Atelosteogenesis type III +5 more	GLikely benign
Select item 1480598	NM_001457.4(FLNB):c.3724+4G>C	FLNB	Single nucleotide variant (intron variant)	Atelosteogenesis type III +5 more	GUncertain significance
Select item 1383728	NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter)	FLNB (R1924* +3 more)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome +1 more	GPathogenic
Select item 1372524	NM_001457.4(FLNB):c.6866G>A (p.Arg2289His)	FLNB (R2278H +3 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +5 more	GUncertain significance
Select item 1332844	NM_001457.4(FLNB):c.1429delinsCT (p.Val477fs)	FLNB (V477fs)	Indel (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 1332839	NM_001457.4(FLNB):c.1493del (p.Glu498fs)	FLNB (E498fs)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 1332815	NM_001457.4(FLNB):c.1204del (p.Val402fs)	FLNB (V402fs)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 1332749	NM_001457.4(FLNB):c.1243C>T (p.Arg415Ter)	FLNB (R415*)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 1328287	NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln)	FLNB (R999Q)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +5 more	GUncertain significance
Select item 1306802	NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)	FLNB (V1109I)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +6 more	GConflicting classifications of pathogenicity
Select item 998082	NM_001457.4(FLNB):c.1346-1358_1941+403del	FLNB	Deletion (splice acceptor variant +1 more)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 998081	NM_001457.4(FLNB):c.3127-354_4223-1836del	FLNB	Deletion (splice acceptor variant +1 more)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 902267	NM_001457.4(FLNB):c.3350A>G (p.His1117Arg)	FLNB (H1117R)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +6 more	GUncertain significance
Select item 899585	NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile)	FLNB (T1609I +1 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +5 more	GUncertain significance
Select item 809500	NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)	FLNB (R1986C +3 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 807602	NM_001457.4(FLNB):c.5555-5_5561del	FLNB	Deletion (splice acceptor variant)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 723119	NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)	FLNB (M1792L +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 633651	NM_001457.4(FLNB):c.1592dup (p.His532fs)	FLNB (H532fs)	Duplication (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 617793	NM_002470.4(MYH3):c.2699del (p.Leu900fs)	MYH3 (L900fs)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 617792	NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys)	MYH3 (F645C)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
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 559904	NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs)	FLNB (I1590fs +1 more)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 559903	NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs)	FLNB (G1149fs)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 504352	NM_002470.4(MYH3):c.2419C>T (p.Gln807Ter)	MYH3 (Q807*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 449027	NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val)	FLNB (A1577V +1 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +5 more	GConflicting classifications of pathogenicity
Select item 392384	NM_001457.4(FLNB):c.4066G>A (p.Ala1356Thr)	FLNB (A1356T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392383	NM_001457.4(FLNB):c.1679A>G (p.His560Arg)	FLNB (H560R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372367	NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)	FLNB (G530W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 346353	NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)	FLNB (E1973K +3 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 346350	NM_001457.4(FLNB):c.5426-10G>A	FLNB	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 346334	NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)	FLNB (V1195M)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 346323	NM_001457.4(FLNB):c.2523T>G (p.Pro841=)	FLNB, LOC129936935	Single nucleotide variant (synonymous variant)	Spondylocarpotarsal synostosis syndrome +7 more	GBenign/Likely benign
Select item 346316	NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)	FLNB (T640M)	Single nucleotide variant (missense variant)	Connective tissue disorder +8 more	GBenign/Likely benign
Select item 289425	NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala)	FLNB (G1464A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 286622	NM_001457.4(FLNB):c.871G>A (p.Val291Met)	FLNB (V291M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258116	NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)	FLNB (K2006R +3 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +8 more	GBenign/Likely benign
Select item 258103	NM_001457.4(FLNB):c.292+8C>A	FLNB	Single nucleotide variant (intron variant)	Connective tissue disorder +8 more	GBenign/Likely benign
Select item 252548	NM_001457.4(FLNB):c.808A>G (p.Met270Val)	FLNB (M270V)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 203472	NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)	MYH3 (S243del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely pathogenic
Select item 21297	NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter)	FLNB, FLNB-AS1 (Y2343* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocarpotarsal synostosis syndrome	Gnot provided
Select item 21280	NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)	FLNB (R649*)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome +1 more	GPathogenic
Select item 6408	NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)	FLNB (G1850* +3 more)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 6407	NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter)	FLNB (R2004* +3 more)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome	GPathogenic
Select item 6397	NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)	FLNB (R1607* +1 more)	Single nucleotide variant (nonsense)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 6396	NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)	FLNB (R818*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 6395	NM_001457.4(FLNB):c.6408del (p.Ser2137fs)	FLNB (S2113fs +3 more)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GPathogenic

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Items: 63