C4551902[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458685	NC_000007.14:g.(?_19116693)_(19117341_?)del	LOC129998021, TWIST1	Deletion	Saethre-Chotzen syndrome +1 more	GPathogenic
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 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 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 543074	NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)	LOC129998021, TWIST1 (F187S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
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 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 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 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 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 568616	NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)	LOC129998021, TWIST1 (L163F)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
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 647985	NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)	LOC129998021, TWIST1 (L159P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 572211	NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)	LOC129998021, TWIST1 (L159F)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 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 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 7982	NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)	LOC129998021, TWIST1 (I156V)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic/Likely pathogenic
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 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 476635	NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)	LOC129998021, TWIST1 (A152E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 835124	NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)	LOC129998021, TWIST1 (L149R)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 942829	NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)	LOC129998021, TWIST1 (T148I)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
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 948152	NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser)	LOC129998021, TWIST1 (I146S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 970861	NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)	LOC129998021, TWIST1 (K145E)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 694504	NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)	LOC129998021, TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 704871	NM_000474.4(TWIST1):c.420G>C (p.Ser140=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related condition +2 more	GLikely benign
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 567420	NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)	TWIST1 (S140*)	Duplication (nonsense +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 458686	NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic
Select item 543075	NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)	TWIST1	Duplication (inframe_insertion +1 more)	not provided +2 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 935674	NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)	TWIST1 (P139L)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
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 476633	NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del)	TWIST1	Deletion (inframe_deletion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 543076	NM_000474.4(TWIST1):c.408dup (p.Thr137fs)	TWIST1 (T137fs)	Duplication (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 931885	NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)	TWIST1	Duplication (inframe_insertion +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 655051	NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)	TWIST1 (P136T)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
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 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 476634	NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)	TWIST1 (R132P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +2 more	GConflicting classifications of pathogenicity
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 7977	NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)	TWIST1 (E126*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic
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 706926	NM_000474.4(TWIST1):c.369G>C (p.Ser123=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 7976	NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)	TWIST1 (S123*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 501963	NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro)	TWIST1 (S123P)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +2 more	GUncertain significance
Select item 800915	NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)	TWIST1 (T121I)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 964829	NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro)	TWIST1 (T121P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
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 1474221	NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)	TWIST1 (R120G)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GPathogenic/Likely pathogenic
Select item 652940	NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)	TWIST1 (R120C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 444876	NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)	TWIST1 (E117G)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 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 543078	NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)	TWIST1 (R116G)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 543073	NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr)	TWIST1 (N114T)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
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 1170174	NM_000474.4(TWIST1):c.330G>A (p.Arg110=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +2 more	GBenign/Likely benign
Select item 426307	NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)	TWIST1 (R110P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +2 more	GConflicting classifications of pathogenicity
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 643790	NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)	TWIST1 (R110W)	Single nucleotide variant (missense 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 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 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 7973	NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)	TWIST1 (Y103*)	Duplication (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 575739	NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)	TWIST1 (Q101*)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +2 more	GPathogenic/Likely pathogenic
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 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 845136	NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 432962	NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del)	TWIST1	Deletion (inframe_deletion +1 more)	not provided +2 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 648741	NM_000474.4(TWIST1):c.277dup (p.Ser93fs)	TWIST1 (S93fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 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 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 1205866	NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly)	TWIST1 (S93G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476632	NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GBenign
Select item 931278	NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)	TWIST1	Deletion (inframe_deletion +1 more)	TWIST1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 256223	NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)	TWIST1	Deletion (inframe_deletion +1 more)	TWIST1-related craniosynostosis +3 more	GBenign/Likely benign
Select item 543080	NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)	TWIST1	Duplication (inframe_insertion +1 more)	Robinow-Sorauf syndrome +3 more	GBenign/Likely benign
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 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 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 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 772125	NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)	TWIST1	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 702088	NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser)	TWIST1 (G83S)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GLikely benign
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 7984	NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)	TWIST1 (Q71*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	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 583158	NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn)	TWIST1 (S68N)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 645450	NM_000474.4(TWIST1):c.197del (p.Pro66fs)	TWIST1 (P66fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
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 476630	NM_000474.4(TWIST1):c.180C>T (p.Val60=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +2 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 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

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