ClinVar (all) for Orgtrack (Select 500188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687049	NM_015681.6(B9D1):c.529G>C (p.Asp177His)	B9D1 (D177H)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel syndrome, type 9 +1 more	GLikely pathogenic
Select item 1326304	NM_002516.4(NOVA2):c.826del (p.Leu276fs)	NOVA2 (L276fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GLikely pathogenic
Select item 1253738	NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser)	GATA4 (T280S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1224488	NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)	COL11A2 (R1213* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1224487	NM_000516.7(GNAS):c.1117del (p.Arg373fs)	GNAS (R1016fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1224486	NM_004970.3(IGFALS):c.484G>A (p.Glu162Lys)	IGFALS (E162K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224485	NM_000451.4(SHOX):c.199C>T (p.Pro67Ser)	SHOX (P67S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1224484	NM_000493.4(COL10A1):c.1823del (p.Thr608fs)	COL10A1, NT5DC1 (T608fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1224483	NM_014780.5(CUL7):c.1392G>A (p.Trp464Ter)	CUL7 (W464* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224482	NM_024753.5(TTC21B):c.1327C>G (p.Leu443Val)	TTC21B (L443V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 1224481	NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)	TTC21B (R991H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +4 more	GConflicting classifications of pathogenicity
Select item 1224480	NM_006182.4(DDR2):c.1196G>A (p.Arg399Gln)	DDR2 (R399Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1224479	NM_013275.6(ANKRD11):c.3590_3594del (p.Lys1197fs)	ANKRD11 (K1197fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224478	NR_003051.4(RMRP):n.81G>A	RMRP	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1224477	NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)	CBL (P703A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1224476	NM_005529.7(HSPG2):c.2799dup (p.Thr934fs)	HSPG2 (T934fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224475	NM_005529.7(HSPG2):c.10107C>G (p.Asn3369Lys)	HSPG2 (N3369K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224474	NM_001844.5(COL2A1):c.1357G>A (p.Gly453Ser)	COL2A1 (G384S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1224473	NM_014780.5(CUL7):c.3750_3762delinsGC (p.Ala1251fs)	CUL7 (A1250fs +2 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1224472	NM_001130144.3(LTBP3):c.1183A>G (p.Ile395Val)	LTBP3 (I278V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1224471	NM_000142.5(FGFR3):c.685G>A (p.Val229Ile)	FGFR3 (V229I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224470	NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3])	LOC130059892, SERPINF1	Microsatellite (inframe_insertion +1 more)	Osteogenesis imperfecta +1 more	GPathogenic
Select item 1224469	NM_002381.5(MATN3):c.626G>A (p.Arg209Gln)	MATN3 (R209Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224468	NR_023343.3(RNU4ATAC):n.124delG	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1224467	NM_000346.4(SOX9):c.445_453del (p.Ser149_Lys151del)	SOX9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1224466	NM_000451.4(SHOX):c.615_616insAA (p.Arg206fs)	SHOX (R206fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224465	NM_001369268.1(ACAN):c.2326del (p.Ser776fs)	ACAN (S776fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224464	NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del)	COL2A1 (G1020del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1224463	NM_001104631.2(PDE4D):c.1783A>C (p.Thr595Pro)	PDE4D (T293P +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224462	NM_147127.5(EVC2):c.874C>G (p.Leu292Val)	EVC2 (L212V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224461	NM_147127.5(EVC2):c.876_892dup (p.His298fs)	EVC2 (H218fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1224460	NM_001457.4(FLNB):c.453C>A (p.Asn151Lys)	FLNB (N151K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224459	NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys)	TRPV4 (R114C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1224458	NM_002181.4(IHH):c.374_387del (p.Val125fs)	IHH (V125fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224457	NM_001017420.3(ESCO2):c.1156del (p.Ala386fs)	ESCO2 (A386fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224456	NM_001457.4(FLNB):c.2671G>C (p.Asp891His)	FLNB (D891H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1224455	NM_001457.4(FLNB):c.3633A>C (p.Glu1211Asp)	FLNB (E1211D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224454	NM_002181.4(IHH):c.271T>C (p.Phe91Leu)	IHH (F91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224453	NM_000142.5(FGFR3):c.937G>T (p.Gly313Cys)	FGFR3 (G313C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1224452	NM_002734.5(PRKAR1A):c.1075C>G (p.Leu359Val)	PRKAR1A (L359V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1224451	NM_004463.3(FGD1):c.2371G>A (p.Gly791Arg)	FGD1 (G791R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224450	NM_001369268.1(ACAN):c.7445C>G (p.Thr2482Arg)	ACAN (T2406R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224449	NM_014112.5(TRPS1):c.3178G>T (p.Gly1060Ter)	TRPS1 (G1047* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224448	NM_001369268.1(ACAN):c.7440G>T (p.Lys2480Asn)	ACAN (K2404N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224447	NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala)	COL2A1 (G759A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224446	NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala)	WNT5A (T229A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1224445	NM_000168.6(GLI3):c.100G>A (p.Val34Ile)	GLI3 (V34I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224444	NM_001457.4(FLNB):c.4395G>C (p.Leu1465Phe)	FLNB (L1465F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224443	NM_013275.6(ANKRD11):c.3464G>A (p.Gly1155Glu)	ANKRD11 (G1155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224442	NM_000346.4(SOX9):c.343T>C (p.Trp115Arg)	LOC108021846, SOX9 (W115R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224441	NM_000095.3(COMP):c.1811A>G (p.Gln604Arg)	COMP (Q604R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224440	NM_014694.4(ADAMTSL2):c.538del (p.Cys180fs)	ADAMTSL2 (C180fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224439	NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)	COL2A1 (V836A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1224438	NM_004260.4(RECQL4):c.2533C>T (p.Leu845=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1224437	NM_000493.4(COL10A1):c.2010dup (p.Ser671fs)	COL10A1, NT5DC1 (S671fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1224436	NM_005430.4(WNT1):c.480del (p.Gly162fs)	WNT1 (G162fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224435	NM_000346.4(SOX9):c.526C>A (p.Pro176Thr)	SOX9 (P176T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224434	NM_001200.4(BMP2):c.761A>G (p.Glu254Gly)	BMP2 (E254G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224433	NM_207122.2(EXT2):c.540G>A (p.Trp180Ter)	EXT2 (W180* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1224432	NM_015311.3(OBSL1):c.1479C>T (p.Gly493=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1224431	NM_015311.3(OBSL1):c.2042T>C (p.Leu681Pro)	OBSL1 (L681P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224430	NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp)	COL1A2 (G835D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1224429	NM_001369268.1(ACAN):c.5332C>T (p.Gln1778Ter)	ACAN (Q1778*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224428	NM_001130144.3(LTBP3):c.3907C>T (p.Arg1303Cys)	LTBP3 (R1139C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224427	NM_003995.4(NPR2):c.2411G>A (p.Arg804His)	NPR2 (R804H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1224426	NM_003995.4(NPR2):c.895C>T (p.Arg299Ter)	NPR2 (R299*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224425	NM_001853.4(COL9A3):c.26C>T (p.Pro9Leu)	COL9A3 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224424	NM_014112.5(TRPS1):c.1561A>T (p.Lys521Ter)	TRPS1 (K508* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224423	NM_014112.5(TRPS1):c.2374A>T (p.Lys792Ter)	TRPS1 (K779* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224422	NM_013275.6(ANKRD11):c.4059del (p.Ser1354fs)	ANKRD11 (S1354fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224421	NM_000516.7(GNAS):c.319G>A (p.Val107Met)	GNAS (V107M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224420	NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser)	COL2A1 (G789S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224419	NM_000493.4(COL10A1):c.2017T>C (p.Ser673Pro)	COL10A1, NT5DC1 (S673P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1224418	NM_080680.3(COL11A2):c.3925G>A (p.Gly1309Arg)	COL11A2 (G1202R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224417	NM_000451.4(SHOX):c.397G>C (p.Glu133Gln)	LOC107652445, SHOX (E133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224416	NM_004380.3(CREBBP):c.1625_1649del (p.Pro542fs)	CREBBP (P504fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224415	NM_004380.3(CREBBP):c.785G>A (p.Gly262Glu)	CREBBP (G262E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224414	NM_000095.3(COMP):c.1304A>T (p.Asp435Val)	COMP (D435V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224413	NM_001369268.1(ACAN):c.1190dup (p.Ile398fs)	ACAN (I398fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224412	NM_001375905.1(SGMS2):c.167A>T (p.Tyr56Phe)	CYP2U1-AS1, SGMS2 (Y56F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224411	NM_133433.4(NIPBL):c.1144A>G (p.Asn382Asp)	NIPBL (N382D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224410	NM_001110556.2(FLNA):c.4749G>T (p.Gln1583His)	FLNA (Q1583H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224409	NM_001711.6(BGN):c.72C>G (p.Phe24Leu)	BGN (F24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224408	NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)	COL5A1 (G1318S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1224407	NM_001330311.2(DVL1):c.165C>G (p.Asp55Glu)	DVL1 (D55E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224406	NM_015311.3(OBSL1):c.241del (p.Val81fs)	OBSL1 (V81fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224405	NM_001377.3(DYNC2H1):c.12547C>T (p.Leu4183Phe)	DYNC2H1 (L4183F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224404	NM_013275.6(ANKRD11):c.3358A>G (p.Thr1120Ala)	ANKRD11 (T1120A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224403	NM_212482.4(FN1):c.6067G>C (p.Gly2023Arg)	FN1 (G1842R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224402	NM_000493.4(COL10A1):c.1790A>T (p.Tyr597Phe)	COL10A1, NT5DC1 (Y597F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224401	NM_004247.4(EFTUD2):c.664T>G (p.Ser222Ala)	EFTUD2 (S187A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224400	NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu)	COL2A1 (P1003L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1224399	NM_001457.4(FLNB):c.3762C>G (p.Asp1254Glu)	FLNB (D1254E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224398	NM_203486.3(DLL3):c.1086C>G (p.Cys362Trp)	DLL3 (C362W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224397	NM_001369268.1(ACAN):c.2403dup (p.Ser802fs)	ACAN (S802fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224396	NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val)	COL2A1 (G690V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1224395	NM_000493.4(COL10A1):c.1735_1739delinsACCCAAGGACCCAAGGACCCTT (p.Gln579fs)	COL10A1, NT5DC1 (Q579fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1224394	NM_000095.3(COMP):c.1393G>A (p.Gly465Ser)	COMP (G465S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224393	NM_001844.5(COL2A1):c.3606_3632del (p.Asn1204_Gly1212del)	COL2A1	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1224392	NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs)	COL2A1 (G1374fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic

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