ClinVar for MedGen (Select 64221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952886	NM_000474.4(TWIST1):c.359G>A (p.Arg120His)	TWIST1 (R120H)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2950975	NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2947590	NM_000474.4(TWIST1):c.79dup (p.Gln27fs)	TWIST1 (Q27fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2942795	NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)	LOC129998021, TWIST1 (L163P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2941873	NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)	TWIST1 (R110G)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2941524	NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)	TWIST1 (G97fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 2940697	NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)	LOC129998021, TWIST1 (V189I)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2940339	NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)	LOC129998021, TWIST1 (S170T)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2937073	NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)	TWIST1	Microsatellite (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2935429	NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely benign
Select item 2925395	NM_000474.4(TWIST1):c.176del (p.Gly59fs)	TWIST1 (G59fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2925392	NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)	TWIST1 (P136A)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2924844	NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)	TWIST1	Microsatellite (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2923233	NM_000474.4(TWIST1):c.600G>C (p.Ala200=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
Select item 2922792	NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2922136	NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)	TWIST1 (N125K)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2921667	NM_000474.4(TWIST1):c.211del (p.Gln71fs)	TWIST1 (Q71fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2920608	NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)	TWIST1 (Q109*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic
Select item 2664505	GRCh37/hg19 7p21.1(chr7:19066802-19662813)x1	FERD3L, TWIST1	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 2572990	NM_000474.4(TWIST1):c.408del (p.Thr137fs)	TWIST1 (T137fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 2444186	NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)	TWIST1 (Q107*)	Single nucleotide variant (nonsense +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 2195827	NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)	TWIST1 (S68I)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2141955	NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)	TWIST1 (G48S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2136497	NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)	LOC129998021, TWIST1 (D141N)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2136496	NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)	LOC129998021, TWIST1 (A152V)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 2095663	NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)	TWIST1 (G32R)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2093953	NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)	TWIST1 (R116P)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 2070030	NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)	LOC129998021, TWIST1 (Y155*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2051836	NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)	TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2036363	NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)	TWIST1 (G48fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 2014164	NM_000474.4(TWIST1):c.264C>T (p.Gly88=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
Select item 1971612	NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)	TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1966259	NM_000474.4(TWIST1):c.51G>C (p.Leu17=)	TWIST1	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
Select item 1806381	NM_000474.4(TWIST1):c.200G>C (p.Gly67Ala)	TWIST1 (G67A)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome	GLikely benign
Select item 1722762	NM_000474.4(TWIST1):c.-18C>T	TWIST1	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 1720308	NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)	TWIST1 (A130P)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1714534	NM_000474.4(TWIST1):c.110G>A (p.Arg37His)	TWIST1 (R37H)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1703561	GRCh37/hg19 7p21.1(chr7:19152100-19157785)	TWIST1	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 1691347	NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)	TWIST1 (G51V)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1685469	NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg)	TWIST1 (Q122R)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome	GLikely pathogenic
Select item 1679672	NM_000474.4(TWIST1):c.518del (p.Ala173fs)	LOC129998021, TWIST1 (A173fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1673614	NM_000141.5(FGFR2):c.1987-20A>T	FGFR2	Single nucleotide variant (intron variant)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1584653	NM_000141.5(FGFR2):c.1335G>T (p.Val445=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1555692	NM_000141.5(FGFR2):c.454+15G>A	FGFR2	Single nucleotide variant (intron variant)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1525168	NM_000141.5(FGFR2):c.182G>A (p.Arg61His)	FGFR2 (R61H)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity
Select item 1519033	NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1514348	NM_000474.4(TWIST1):c.510dup (p.Lys171fs)	LOC129998021, TWIST1 (K171fs)	Duplication (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1506367	NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val)	FGFR2 (A134V +6 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1495173	NM_000474.4(TWIST1):c.530_537dup (p.His180fs)	LOC129998021, TWIST1 (H180fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1488653	NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser)	TWIST1 (P139S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 1482755	NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu)	FGFR2 (P328L +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1480108	NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu)	LOC129998021, TWIST1 (F158L)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 1474659	NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu)	LOC129998021, TWIST1 (F158L)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 1474221	NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)	TWIST1 (R120G)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1471286	NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup)	TWIST1	Microsatellite (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1464298	NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr)	FGFR2 (A302T +6 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome +11 more	GUncertain significance
Select item 1458491	NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter)	TWIST1 (E104*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1457074	NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1455499	NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)	LOC129998021, TWIST1 (I156S)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1451820	NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)	TWIST1 (N114fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1434196	NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs)	TWIST1 (G88fs)	Microsatellite (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1431451	NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)	TWIST1 (G54V)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1424097	NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn)	TWIST1 (S45N)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1420250	NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)	TWIST1 (S140L)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 1418275	NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)	TWIST1 (E117*)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 1415015	NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)	FGFR2 (L581P +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity
Select item 1412875	NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser)	FGFR2 (N546S +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1392697	NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup)	TWIST1	Microsatellite (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1373931	NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu)	FGFR2 (P298L +6 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1372714	NM_000141.5(FGFR2):c.877C>T (p.His293Tyr)	FGFR2 (H204Y +3 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1357752	NC_000007.13:g.(?_19156336)_(19157207_?)del	TWIST1	Deletion	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 1351855	NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del)	TWIST1 (I135del)	Microsatellite (inframe_deletion +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1328666	NM_000141.5(FGFR2):c.1155C>G (p.Val385=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Beare-Stevenson cutis gyrata syndrome +12 more	GLikely benign
Select item 1318925	NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA	FGFR2	Indel (intron variant)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1317030	NM_000141.5(FGFR2):c.2077A>G (p.Met693Val)	FGFR2 (M465V +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1316322	NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)	FGFR2 (G146R +3 more)	Single nucleotide variant (missense variant +2 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1316125	NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp)	FGFR2 (G96D)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GUncertain significance
Select item 1205866	NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly)	TWIST1 (S93G)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +2 more	GUncertain significance
Select item 1193382	NM_000141.5(FGFR2):c.362T>C (p.Met121Thr)	FGFR2 (M121T)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1170174	NM_000474.4(TWIST1):c.330G>A (p.Arg110=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1164065	NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del)	LOC129998021, TWIST1	Deletion (inframe_deletion +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 1127259	NM_000474.4(TWIST1):c.546G>T (p.Arg182=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely benign
Select item 1091719	NM_000141.5(FGFR2):c.1746C>T (p.Pro582=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Jackson-Weiss syndrome +12 more	GLikely benign
Select item 1079179	NM_000141.5(FGFR2):c.1356T>A (p.Ser452=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GLikely benign
Select item 1075291	NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)	LOC129998021, TWIST1 (W196*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1075081	NM_000474.4(TWIST1):c.54_73del (p.Ser18fs)	TWIST1 (S18fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1065423	NM_000141.5(FGFR2):c.1085-6A>G	FGFR2	Single nucleotide variant (intron variant)	Saethre-Chotzen syndrome	GUncertain significance
Select item 1062590	NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs)	FGFR2 (I587fs +8 more)	Deletion (frameshift variant +2 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1052478	NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)	FGFR2 (R222C +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GUncertain significance
Select item 1048585	NM_000474.4(TWIST1):c.476T>A (p.Leu159His)	LOC129998021, TWIST1 (L159H)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome	GLikely pathogenic
Select item 1040207	NM_000474.4(TWIST1):c.484del (p.Val162fs)	LOC129998021, TWIST1 (V162fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1031585	NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser)	TWIST1 (G84S)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1014464	NM_000474.4(TWIST1):c.316C>G (p.Leu106Val)	TWIST1 (L106V)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1010080	NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr)	LOC129998021, TWIST1 (I146T)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1000825	NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu)	FGFR2 (P148L +3 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1000813	NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)	FGFR2 (R6C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 1000485	NM_000474.4(TWIST1):c.405C>G (p.Ile135Met)	TWIST1 (I135M)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 985259	NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser)	TWIST1 (R118S)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GConflicting classifications of pathogenicity
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 981190	NM_000474.4(TWIST1):c.171del (p.Gly59fs)	TWIST1 (G59fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome	GLikely pathogenic

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