ClinVar for MedGen (Select 1646646) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26276111.	NM_000474.4(TWIST1):c.325C>G (p.Gln109Glu) GRCh37: Chr7:19156620 GRCh38: Chr7:19116997	TWIST1	Q109E	TWIST1-related craniosynostosis	Uncertain significance (Sep 18, 2023)	criteria provided, single submitter
Select item 24233502.	NC_000019.9:g.(?_39904727)_(42931301_?)dup GRCh37: Chr19:39904727-42931301	ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B		TWIST1-related craniosynostosis, Congenital hypoplastic anemia, MEGF8-related Carpenter syndrome, Maple syrup urine disease	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 21958273.	NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile) GRCh37: Chr7:19156742 GRCh38: Chr7:19117119	TWIST1	S68I	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 21491724.	NM_006494.4(ERF):c.823C>T (p.Leu275=) GRCh37: Chr19:42753441 GRCh38: Chr19:42249289	ERF		TWIST1-related craniosynostosis	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 21419555.	NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser) GRCh37: Chr7:19156803 GRCh38: Chr7:19117180	TWIST1	G48S	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 21364976.	NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn) GRCh37: Chr7:19156524 GRCh38: Chr7:19116901	LOC129998021, TWIST1	D141N	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 21364967.	NM_000474.4(TWIST1):c.455C>T (p.Ala152Val) GRCh37: Chr7:19156490 GRCh38: Chr7:19116867	LOC129998021, TWIST1	A152V	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Likely pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 21331308.	NM_006494.4(ERF):c.1021del (p.Gln341fs) GRCh37: Chr19:42753243 GRCh38: Chr19:42249091	ERF	Q341fs, Q266fs	TWIST1-related craniosynostosis	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 21225549.	NM_006494.4(ERF):c.272dup (p.Arg92fs) GRCh37: Chr19:42754079-42754080 GRCh38: Chr19:42249927-42249928	ERF	R17fs, R92fs	TWIST1-related craniosynostosis	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 209566310.	NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg) GRCh37: Chr7:19156851 GRCh38: Chr7:19117228	TWIST1	G32R	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 209395311.	NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro) GRCh37: Chr7:19156598 GRCh38: Chr7:19116975	TWIST1	R116P	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 207003012.	NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter) GRCh37: Chr7:19156480 GRCh38: Chr7:19116857	LOC129998021, TWIST1	Y155*	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 206244813.	NM_006494.4(ERF):c.1191C>T (p.Ala397=) GRCh37: Chr19:42753073 GRCh38: Chr19:42248921	ERF		TWIST1-related craniosynostosis	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 205183614.	NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly) GRCh37: Chr7:19156680-19156681 GRCh38: Chr7:19117057-19117058	TWIST1		Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 203636315.	NM_000474.4(TWIST1):c.141_145del (p.Gly48fs) GRCh37: Chr7:19156800-19156804 GRCh38: Chr7:19117177-19117181	TWIST1	G48fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 202240516.	NM_006494.4(ERF):c.762C>T (p.Ala254=) GRCh37: Chr19:42753502 GRCh38: Chr19:42249350	ERF		TWIST1-related craniosynostosis	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 201416417.	NM_000474.4(TWIST1):c.264C>T (p.Gly88=) GRCh37: Chr7:19156681 GRCh38: Chr7:19117058	TWIST1		TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 197161218.	NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly) GRCh37: Chr7:19156668-19156669 GRCh38: Chr7:19117045-19117046	TWIST1		TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 196625919.	NM_000474.4(TWIST1):c.51G>C (p.Leu17=) GRCh37: Chr7:19156894 GRCh38: Chr7:19117271	TWIST1		Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 195778620.	NM_006494.4(ERF):c.355A>C (p.Ile119Leu) GRCh37: Chr19:42753997 GRCh38: Chr19:42249845	ERF	I119L, I44L	TWIST1-related craniosynostosis	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 193735221.	NM_006494.4(ERF):c.408G>A (p.Pro136=) GRCh37: Chr19:42753856 GRCh38: Chr19:42249704	ERF		TWIST1-related craniosynostosis	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 172030822.	NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro) GRCh37: Chr7:19156557 GRCh38: Chr7:19116934	TWIST1	A130P	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 171453423.	NM_000474.4(TWIST1):c.110G>A (p.Arg37His) GRCh37: Chr7:19156835 GRCh38: Chr7:19117212	TWIST1	R37H	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 169662024.	NM_006494.4(ERF):c.398C>T (p.Pro133Leu) GRCh37: Chr19:42753866 GRCh38: Chr19:42249714	ERF	P133L, P58L	Chitayat syndrome, Lambdoidal craniosynostosis, TWIST1-related craniosynostosis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169134725.	NM_000474.4(TWIST1):c.152G>T (p.Gly51Val) GRCh37: Chr7:19156793 GRCh38: Chr7:19117170	TWIST1	G51V	Inborn genetic diseases, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, not provided	Uncertain significance (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167967226.	NM_000474.4(TWIST1):c.518del (p.Ala173fs) GRCh37: Chr7:19156427 GRCh38: Chr7:19116804	LOC129998021, TWIST1	A173fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Jul 2, 2021)	criteria provided, single submitter
Select item 160652027.	NM_006494.4(ERF):c.1461C>T (p.Arg487=) GRCh37: Chr19:42752803 GRCh38: Chr19:42248651	ERF		TWIST1-related craniosynostosis	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 160640328.	NM_006494.4(ERF):c.1602C>T (p.Leu534=) GRCh37: Chr19:42752662 GRCh38: Chr19:42248510	ERF		TWIST1-related craniosynostosis	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 160164229.	NM_006494.4(ERF):c.132C>T (p.Gly44=) GRCh37: Chr19:42754608 GRCh38: Chr19:42250456	ERF		TWIST1-related craniosynostosis	Benign (Sep 7, 2022)	criteria provided, single submitter
Select item 159263430.	NM_006494.4(ERF):c.1152C>T (p.Leu384=) GRCh37: Chr19:42753112 GRCh38: Chr19:42248960	ERF		TWIST1-related craniosynostosis	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 151962731.	NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs) GRCh37: Chr19:42752954-42752955 GRCh38: Chr19:42248802-42248803	ERF	E362fs, E437fs	TWIST1-related craniosynostosis	Likely pathogenic (Oct 24, 2021)	criteria provided, single submitter
Select item 151903332.	NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup) GRCh37: Chr7:19156668-19156669 GRCh38: Chr7:19117045-19117046	TWIST1		Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 151434833.	NM_000474.4(TWIST1):c.510dup (p.Lys171fs) GRCh37: Chr7:19156434-19156435 GRCh38: Chr7:19116811-19116812	LOC129998021, TWIST1	K171fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 150285134.	NM_006494.4(ERF):c.911_913del (p.Ser304del) GRCh37: Chr19:42753351-42753353 GRCh38: Chr19:42249199-42249201	ERF	S229del, S304del	TWIST1-related craniosynostosis	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 150089535.	NM_006494.4(ERF):c.199T>G (p.Trp67Gly) GRCh37: Chr19:42754541 GRCh38: Chr19:42250389	ERF	W67G	TWIST1-related craniosynostosis	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 149517336.	NM_000474.4(TWIST1):c.530_537dup (p.His180fs) GRCh37: Chr7:19156407-19156408 GRCh38: Chr7:19116784-19116785	LOC129998021, TWIST1	H180fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 148865337.	NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser) GRCh37: Chr7:19156530 GRCh38: Chr7:19116907	TWIST1	P139S	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 148731238.	NM_006494.4(ERF):c.36G>A (p.Pro12=) GRCh37: Chr19:42754704 GRCh38: Chr19:42250552	ERF		TWIST1-related craniosynostosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148010839.	NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) GRCh37: Chr7:19156473 GRCh38: Chr7:19116850	LOC129998021, TWIST1	F158L	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 147465940.	NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) GRCh37: Chr7:19156471 GRCh38: Chr7:19116848	LOC129998021, TWIST1	F158L	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 147422141.	NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) GRCh37: Chr7:19156587 GRCh38: Chr7:19116964	TWIST1	R120G	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, Sweeney-Cox syndrome	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147128642.	NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup) GRCh37: Chr7:19156668-19156669 GRCh38: Chr7:19117045-19117046	TWIST1		Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 145849143.	NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter) GRCh37: Chr7:19156635 GRCh38: Chr7:19117012	TWIST1	E104*	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 145784844.	NC_000019.9:g.(?_42703590)_(42778729_?)del GRCh37: Chr19:42703590-42778729	DEDD2, ERF, GSK3A, ZNF526		TWIST1-related craniosynostosis	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 145707445.	NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup) GRCh37: Chr7:19156529-19156530 GRCh38: Chr7:19116906-19116907	TWIST1		TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 145589546.	NM_006494.4(ERF):c.71C>G (p.Ser24Ter) GRCh37: Chr19:42754669 GRCh38: Chr19:42250517	ERF	S24*	TWIST1-related craniosynostosis	Pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 145549947.	NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser) GRCh37: Chr7:19156478 GRCh38: Chr7:19116855	LOC129998021, TWIST1	I156S	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 145182048.	NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs) GRCh37: Chr7:19156605-19156606 GRCh38: Chr7:19116982-19116983	TWIST1	N114fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 143419649.	NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs) GRCh37: Chr7:19156683-19156684 GRCh38: Chr7:19117060-19117061	TWIST1	G88fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 143145150.	NM_000474.4(TWIST1):c.161G>T (p.Gly54Val) GRCh37: Chr7:19156784 GRCh38: Chr7:19117161	TWIST1	G54V	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 142409751.	NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn) GRCh37: Chr7:19156811 GRCh38: Chr7:19117188	TWIST1	S45N	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 142025052.	NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu) GRCh37: Chr7:19156526 GRCh38: Chr7:19116903	TWIST1	S140L	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 141827553.	NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter) GRCh37: Chr7:19156596 GRCh38: Chr7:19116973	TWIST1	E117*	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Aug 15, 2021)	criteria provided, single submitter
Select item 140305454.	NM_006494.4(ERF):c.1372C>G (p.Arg458Gly) GRCh37: Chr19:42752892 GRCh38: Chr19:42248740	ERF	R458G, R383G	TWIST1-related craniosynostosis, Inborn genetic diseases	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140237555.	NM_006494.4(ERF):c.1222G>A (p.Gly408Arg) GRCh37: Chr19:42753042 GRCh38: Chr19:42248890	ERF	G333R, G408R	TWIST1-related craniosynostosis	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 139269756.	NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup) GRCh37: Chr7:19156685-19156686 GRCh38: Chr7:19117062-19117063	TWIST1		TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 135775257.	NC_000007.13:g.(?_19156336)_(19157207_?)del GRCh37: Chr7:19156336-19157207	TWIST1		Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 135185558.	NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del) GRCh37: Chr7:19156540-19156542 GRCh38: Chr7:19116917-19116919	TWIST1	I135del	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 131030859.	NM_006494.4(ERF):c.652C>T (p.Arg218Ter) GRCh37: Chr19:42753612 GRCh38: Chr19:42249460	ERF	R143, R218	TWIST1-related craniosynostosis, not provided	Pathogenic/Likely pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117017460.	NM_000474.4(TWIST1):c.330G>A (p.Arg110=) GRCh37: Chr7:19156615 GRCh38: Chr7:19116992	TWIST1		TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, not provided	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116968761.	NM_006494.4(ERF):c.615C>G (p.Arg205=) GRCh37: Chr19:42753649 GRCh38: Chr19:42249497	ERF		TWIST1-related craniosynostosis, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116968662.	NM_006494.4(ERF):c.981C>T (p.Ser327=) GRCh37: Chr19:42753283 GRCh38: Chr19:42249131	ERF		TWIST1-related craniosynostosis, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116968563.	NM_006494.4(ERF):c.1230T>C (p.Ala410=) GRCh37: Chr19:42753034 GRCh38: Chr19:42248882	ERF		TWIST1-related craniosynostosis, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116732964.	NM_006494.4(ERF):c.514C>T (p.Leu172Phe) GRCh37: Chr19:42753750 GRCh38: Chr19:42249598	ERF	L172F, L97F	TWIST1-related craniosynostosis	Benign (Mar 12, 2020)	criteria provided, single submitter
Select item 112725965.	NM_000474.4(TWIST1):c.546G>T (p.Arg182=) GRCh37: Chr7:19156399 GRCh38: Chr7:19116776	LOC129998021, TWIST1		Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Likely benign (Oct 25, 2020)	criteria provided, single submitter
Select item 111378366.	NM_006494.4(ERF):c.597G>A (p.Pro199=) GRCh37: Chr19:42753667 GRCh38: Chr19:42249515	ERF		TWIST1-related craniosynostosis	Likely benign (Mar 4, 2020)	criteria provided, single submitter
Select item 110927667.	NM_006494.4(ERF):c.1052C>T (p.Pro351Leu) GRCh37: Chr19:42753212 GRCh38: Chr19:42249060	ERF	P276L, P351L	TWIST1-related craniosynostosis	Likely benign (Oct 9, 2020)	criteria provided, single submitter
Select item 107529168.	NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) GRCh37: Chr7:19156358 GRCh38: Chr7:19116735	LOC129998021, TWIST1	W196*	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 107508169.	NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) GRCh37: Chr7:19156872-19156891 GRCh38: Chr7:19117249-19117268	TWIST1	S18fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 107049070.	NC_000019.9:g.(?_42759120)_42759196del	ERF		TWIST1-related craniosynostosis	Pathogenic (Jun 28, 2018)	criteria provided, single submitter
Select item 106116071.	NM_006494.4(ERF):c.830A>G (p.Tyr277Cys) GRCh37: Chr19:42753434 GRCh38: Chr19:42249282	ERF	Y202C, Y277C	TWIST1-related craniosynostosis	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 104345372.	NM_006494.4(ERF):c.824T>C (p.Leu275Pro) GRCh37: Chr19:42753440 GRCh38: Chr19:42249288	ERF	L200P, L275P	Inborn genetic diseases, TWIST1-related craniosynostosis	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104020773.	NM_000474.4(TWIST1):c.484del (p.Val162fs) GRCh37: Chr7:19156461 GRCh38: Chr7:19116838	LOC129998021, TWIST1	V162fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 103158574.	NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser) GRCh37: Chr7:19156695 GRCh38: Chr7:19117072	TWIST1	G84S	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, TWIST1-related craniosynostosis	Uncertain significance (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101804375.	NM_006494.4(ERF):c.110T>C (p.Leu37Pro) GRCh37: Chr19:42754630 GRCh38: Chr19:42250478	ERF	L37P	TWIST1-related craniosynostosis	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 101446476.	NM_000474.4(TWIST1):c.316C>G (p.Leu106Val) GRCh37: Chr7:19156629 GRCh38: Chr7:19117006	TWIST1	L106V	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 101008077.	NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr) GRCh37: Chr7:19156508 GRCh38: Chr7:19116885	LOC129998021, TWIST1	I146T	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100048578.	NM_000474.4(TWIST1):c.405C>G (p.Ile135Met) GRCh37: Chr7:19156540 GRCh38: Chr7:19116917	TWIST1	I135M	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 97849679.	NM_006494.4(ERF):c.1057A>G (p.Met353Val) GRCh37: Chr19:42753207 GRCh38: Chr19:42249055	ERF	M353V, M278V	TWIST1-related craniosynostosis	Likely benign (Nov 18, 2019)	criteria provided, single submitter
Select item 97387480.	NM_000474.4(TWIST1):c.321dup (p.Thr108fs) GRCh37: Chr7:19156623-19156624 GRCh38: Chr7:19117000-19117001	TWIST1	T108fs	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Mar 13, 2020)	criteria provided, single submitter
Select item 97086181.	NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) GRCh37: Chr7:19156512 GRCh38: Chr7:19116889	LOC129998021, TWIST1	K145E	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 96482982.	NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro) GRCh37: Chr7:19156584 GRCh38: Chr7:19116961	TWIST1	T121P	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 96481083.	NM_006494.4(ERF):c.1478G>A (p.Arg493His) GRCh37: Chr19:42752786 GRCh38: Chr19:42248634	ERF	R418H, R493H	TWIST1-related craniosynostosis, Inborn genetic diseases	Uncertain significance (Jun 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96421184.	NM_006494.4(ERF):c.427del (p.Arg143fs) GRCh37: Chr19:42753837 GRCh38: Chr19:42249685	ERF	R143fs, R68fs	TWIST1-related craniosynostosis	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 95036785.	NM_006494.4(ERF):c.748G>C (p.Val250Leu) GRCh37: Chr19:42753516 GRCh38: Chr19:42249364	ERF	V175L, V250L	TWIST1-related craniosynostosis	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 94815286.	NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser) GRCh37: Chr7:19156508 GRCh38: Chr7:19116885	LOC129998021, TWIST1	I146S	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94632887.	NM_006494.4(ERF):c.257G>A (p.Arg86His) GRCh37: Chr19:42754483 GRCh38: Chr19:42250331	ERF	R11H, R86H	TWIST1-related craniosynostosis	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 94282988.	NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) GRCh37: Chr7:19156502 GRCh38: Chr7:19116879	LOC129998021, TWIST1	T148I	Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 94131589.	NM_006494.4(ERF):c.1201A>G (p.Lys401Glu) GRCh37: Chr19:42753063 GRCh38: Chr19:42248911	ERF	K401E, K326E	TWIST1-related craniosynostosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 93648390.	NM_006494.4(ERF):c.144G>A (p.Trp48Ter) GRCh37: Chr19:42754596 GRCh38: Chr19:42250444	ERF	W48*	TWIST1-related craniosynostosis	Pathogenic (Oct 6, 2019)	criteria provided, single submitter
Select item 93567491.	NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) GRCh37: Chr7:19156529 GRCh38: Chr7:19116906	TWIST1	P139L	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Likely pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 93188592.	NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) GRCh37: Chr7:19156539-19156540 GRCh38: Chr7:19116916-19116917	TWIST1		Sweeney-Cox syndrome, not provided, Saethre-Chotzen syndrome, TWIST1-related disorder, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Conflicting interpretations of pathogenicity (May 17, 2023)	criteria provided, conflicting interpretations
Select item 85623593.	NM_006494.4(ERF):c.532G>C (p.Ala178Pro) GRCh37: Chr19:42753732 GRCh38: Chr19:42249580	ERF	A103P, A178P	TWIST1-related craniosynostosis	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 84513694.	NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup) GRCh37: Chr7:19156651-19156652 GRCh38: Chr7:19117028-19117029	TWIST1		TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 83512495.	NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) GRCh37: Chr7:19156499 GRCh38: Chr7:19116876	LOC129998021, TWIST1	L149R	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 80230096.	NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) GRCh37: Chr7:19156636 GRCh38: Chr7:19117013	TWIST1	Y103*	Neurodevelopmental delay, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80091597.	NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) GRCh37: Chr7:19156583 GRCh38: Chr7:19116960	TWIST1	T121I	TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 80017398.	NM_006494.4(ERF):c.1262C>T (p.Pro421Leu) GRCh37: Chr19:42753002 GRCh38: Chr19:42248850	ERF	P346L, P421L	Inborn genetic diseases, TWIST1-related craniosynostosis	Likely benign (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 78952899.	NM_006494.4(ERF):c.819C>T (p.Thr273=) GRCh37: Chr19:42753445 GRCh38: Chr19:42249293	ERF		TWIST1-related craniosynostosis	Likely benign (Mar 7, 2018)	criteria provided, single submitter
Select item 772125100.	NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) GRCh37: Chr7:19156685-19156686 GRCh38: Chr7:19117062-19117063	TWIST1		not provided, TWIST1-related condition, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations

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