ClinVar for MedGen (Select 340943) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24452031.	NM_001101.5(ACTB):c.220G>T (p.Gly74Cys) GRCh37: Chr7:5568935 GRCh38: Chr7:5529304	ACTB	G74C	Baraitser-Winter syndrome 1	Pathogenic (Jun 15, 2021)	criteria provided, single submitter
Select item 24420852.	NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro) GRCh37: Chr7:5567449 GRCh38: Chr7:5527818	ACTB	Q353P	Baraitser-Winter syndrome 1	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 24420323.	NM_001101.5(ACTB):c.373G>A (p.Glu125Lys) GRCh37: Chr7:5568341 GRCh38: Chr7:5528710	ACTB	E125K	Baraitser-Winter syndrome 1	Uncertain significance (Feb 4, 2021)	criteria provided, single submitter
Select item 24315644.	NM_001101.5(ACTB):c.898T>C (p.Ser300Pro) GRCh37: Chr7:5567721 GRCh38: Chr7:5528090	ACTB	S300P	Baraitser-Winter syndrome 1	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 24237085.	NC_000007.13:g.(?_5567379)_(5568370_?)dup GRCh37: Chr7:5567379-5568370	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 24237076.	NC_000007.13:g.(?_5567379)_(5569051_?)dup GRCh37: Chr7:5567379-5569051	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 24237067.	NC_000007.13:g.(?_5567615)_(5569051_?)dup GRCh37: Chr7:5567615-5569051	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 24169818.	NM_001101.5(ACTB):c.15C>T (p.Ile5=) GRCh37: Chr7:5569274 GRCh38: Chr7:5529643	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 24145109.	NM_001101.5(ACTB):c.24C>T (p.Leu8=) GRCh37: Chr7:5569265 GRCh38: Chr7:5529634	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 219965810.	NM_001101.5(ACTB):c.724C>T (p.Leu242=) GRCh37: Chr7:5567990 GRCh38: Chr7:5528359	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 219603711.	NM_001101.5(ACTB):c.423C>T (p.Ser141=) GRCh37: Chr7:5568291 GRCh38: Chr7:5528660	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219481112.	NM_001101.5(ACTB):c.156C>T (p.Ser52=) GRCh37: Chr7:5568999 GRCh38: Chr7:5529368	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219377813.	NM_001101.5(ACTB):c.30C>T (p.Val10=) GRCh37: Chr7:5569259 GRCh38: Chr7:5529628	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219156114.	NM_001101.5(ACTB):c.516C>T (p.Pro172=) GRCh37: Chr7:5568198 GRCh38: Chr7:5528567	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 219147915.	NM_001101.5(ACTB):c.890C>T (p.Thr297Ile) GRCh37: Chr7:5567729 GRCh38: Chr7:5528098	ACTB	T297I	Baraitser-Winter syndrome 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 219016216.	NM_001101.5(ACTB):c.199C>T (p.Leu67=) GRCh37: Chr7:5568956 GRCh38: Chr7:5529325	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 218681617.	NM_001101.5(ACTB):c.297G>A (p.Glu99=) GRCh37: Chr7:5568858 GRCh38: Chr7:5529227	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 218331318.	NM_001101.5(ACTB):c.123+4G>A GRCh37: Chr7:5569162 GRCh38: Chr7:5529531	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218145519.	NM_001101.5(ACTB):c.802+18C>A GRCh37: Chr7:5567894 GRCh38: Chr7:5528263	ACTB		Baraitser-Winter syndrome 1	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 218105720.	NM_001101.5(ACTB):c.803-17C>T GRCh37: Chr7:5567833 GRCh38: Chr7:5528202	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 218046521.	NM_001101.5(ACTB):c.985-16C>T GRCh37: Chr7:5567538 GRCh38: Chr7:5527907	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217773922.	NM_001101.5(ACTB):c.955G>T (p.Ala319Ser) GRCh37: Chr7:5567664 GRCh38: Chr7:5528033	ACTB	A319S	Baraitser-Winter syndrome 1	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 217408023.	NM_001101.5(ACTB):c.984+19T>A GRCh37: Chr7:5567616 GRCh38: Chr7:5527985	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 216813624.	NM_001101.5(ACTB):c.138C>T (p.Gly46=) GRCh37: Chr7:5569017 GRCh38: Chr7:5529386	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 216569925.	NM_001101.5(ACTB):c.1047G>A (p.Leu349=) GRCh37: Chr7:5567460 GRCh38: Chr7:5527829	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 215943626.	NM_001101.5(ACTB):c.511C>T (p.Leu171Phe) GRCh37: Chr7:5568203 GRCh38: Chr7:5528572	ACTB	L171F	Baraitser-Winter syndrome 1	Likely pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 215918027.	NM_001101.5(ACTB):c.819C>T (p.Gly273=) GRCh37: Chr7:5567800 GRCh38: Chr7:5528169	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 215776328.	NM_001101.5(ACTB):c.900T>G (p.Ser300=) GRCh37: Chr7:5567719 GRCh38: Chr7:5528088	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 215434129.	NM_001101.5(ACTB):c.318C>G (p.Thr106=) GRCh37: Chr7:5568837 GRCh38: Chr7:5529206	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215193830.	NM_001101.5(ACTB):c.661C>T (p.Leu221=) GRCh37: Chr7:5568053 GRCh38: Chr7:5528422	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 215051431.	NM_001101.5(ACTB):c.399C>T (p.Tyr133=) GRCh37: Chr7:5568315 GRCh38: Chr7:5528684	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 214099432.	NM_001101.5(ACTB):c.660C>T (p.Ala220=) GRCh37: Chr7:5568054 GRCh38: Chr7:5528423	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 213900933.	NM_001101.5(ACTB):c.1056C>T (p.Phe352=) GRCh37: Chr7:5567451 GRCh38: Chr7:5527820	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 213652534.	NM_001101.5(ACTB):c.57C>T (p.Ala19=) GRCh37: Chr7:5569232 GRCh38: Chr7:5529601	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 209918135.	NM_001101.5(ACTB):c.383A>C (p.Asn128Thr) GRCh37: Chr7:5568331 GRCh38: Chr7:5528700	ACTB	N128T	Baraitser-Winter syndrome 1	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 209557636.	NM_001101.5(ACTB):c.787del (p.Gln263fs) GRCh37: Chr7:5567927 GRCh38: Chr7:5528296	ACTB	Q263fs	Baraitser-Winter syndrome 1	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209079637.	NM_001101.5(ACTB):c.123+10C>T GRCh37: Chr7:5569156 GRCh38: Chr7:5529525	ACTB		Baraitser-Winter syndrome 1	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 208673538.	NM_001101.5(ACTB):c.124-9C>G GRCh37: Chr7:5569040 GRCh38: Chr7:5529409	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 208191939.	NM_001101.5(ACTB):c.90C>T (p.Val30=) GRCh37: Chr7:5569199 GRCh38: Chr7:5529568	ACTB		Baraitser-Winter syndrome 1	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 207972940.	NM_001101.5(ACTB):c.802+10G>C GRCh37: Chr7:5567902 GRCh38: Chr7:5528271	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 207836941.	NM_001101.5(ACTB):c.1074C>T (p.Ser358=) GRCh37: Chr7:5567433 GRCh38: Chr7:5527802	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 207828842.	NM_001101.5(ACTB):c.903C>A (p.Gly301=) GRCh37: Chr7:5567716 GRCh38: Chr7:5528085	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 207221243.	NM_001101.5(ACTB):c.985-15C>T GRCh37: Chr7:5567537 GRCh38: Chr7:5527906	ACTB		Baraitser-Winter syndrome 1	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 207053144.	NM_001101.5(ACTB):c.364-16_364-15delinsCG GRCh37: Chr7:5568365-5568366 GRCh38: Chr7:5528734-5528735	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 206645145.	NM_001101.5(ACTB):c.313C>T (p.Leu105=) GRCh37: Chr7:5568842 GRCh38: Chr7:5529211	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 206534446.	NM_001101.5(ACTB):c.699C>T (p.Ser233=) GRCh37: Chr7:5568015 GRCh38: Chr7:5528384	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 206220147.	NM_001101.5(ACTB):c.706C>T (p.Leu236=) GRCh37: Chr7:5568008 GRCh38: Chr7:5528377	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 206104848.	NM_001101.5(ACTB):c.802+18C>T GRCh37: Chr7:5567894 GRCh38: Chr7:5528263	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 206020849.	NM_001101.5(ACTB):c.799C>T (p.Leu267=) GRCh37: Chr7:5567915 GRCh38: Chr7:5528284	ACTB		Baraitser-Winter syndrome 1	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 205865950.	NM_001101.5(ACTB):c.124-20T>G GRCh37: Chr7:5569051 GRCh38: Chr7:5529420	ACTB		Baraitser-Winter syndrome 1	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 205699151.	NM_001101.5(ACTB):c.69C>T (p.Gly23=) GRCh37: Chr7:5569220 GRCh38: Chr7:5529589	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 205650852.	NM_001101.5(ACTB):c.364-17_364-16delinsTC GRCh37: Chr7:5568366-5568367 GRCh38: Chr7:5528735-5528736	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 205069453.	NM_001101.5(ACTB):c.364-7C>A GRCh37: Chr7:5568357 GRCh38: Chr7:5528726	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 205055554.	NM_001101.5(ACTB):c.60C>T (p.Gly20=) GRCh37: Chr7:5569229 GRCh38: Chr7:5529598	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 204694355.	NM_001101.5(ACTB):c.985-8C>T GRCh37: Chr7:5567530 GRCh38: Chr7:5527899	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 204679256.	NM_001101.5(ACTB):c.364-5T>G GRCh37: Chr7:5568355 GRCh38: Chr7:5528724	ACTB		Baraitser-Winter syndrome 1	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 204167957.	NM_001101.5(ACTB):c.803-13A>G GRCh37: Chr7:5567829 GRCh38: Chr7:5528198	ACTB		Baraitser-Winter syndrome 1	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204092658.	NM_001101.5(ACTB):c.135G>T (p.Val45=) GRCh37: Chr7:5569020 GRCh38: Chr7:5529389	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 202158459.	NM_001101.5(ACTB):c.366C>T (p.Ile122=) GRCh37: Chr7:5568348 GRCh38: Chr7:5528717	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201840260.	NM_001101.5(ACTB):c.674_683del (p.Gln225fs) GRCh37: Chr7:5568031-5568040 GRCh38: Chr7:5528400-5528409	ACTB	Q225fs	Baraitser-Winter syndrome 1	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 201760461.	NM_001101.5(ACTB):c.803-20T>A GRCh37: Chr7:5567836 GRCh38: Chr7:5528205	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 201691762.	NM_001101.5(ACTB):c.369G>A (p.Met123Ile) GRCh37: Chr7:5568345 GRCh38: Chr7:5528714	ACTB	M123I	Baraitser-Winter syndrome 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 201237663.	NM_001101.5(ACTB):c.387C>T (p.Thr129=) GRCh37: Chr7:5568327 GRCh38: Chr7:5528696	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 200950464.	NM_001101.5(ACTB):c.802+10G>A GRCh37: Chr7:5567902 GRCh38: Chr7:5528271	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 200542265.	NM_001101.5(ACTB):c.125G>C (p.Gly42Ala) GRCh37: Chr7:5569030 GRCh38: Chr7:5529399	ACTB	G42A	Baraitser-Winter syndrome 1	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200435466.	NM_001101.5(ACTB):c.249G>C (p.Glu83Asp) GRCh37: Chr7:5568906 GRCh38: Chr7:5529275	ACTB	E83D	Baraitser-Winter syndrome 1	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 200424367.	NM_001101.5(ACTB):c.877C>T (p.Leu293=) GRCh37: Chr7:5567742 GRCh38: Chr7:5528111	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 199523568.	NM_001101.5(ACTB):c.54G>A (p.Lys18=) GRCh37: Chr7:5569235 GRCh38: Chr7:5529604	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 199344769.	NM_001101.5(ACTB):c.802+6dup GRCh37: Chr7:5567905-5567906 GRCh38: Chr7:5528274-5528275	ACTB		Baraitser-Winter syndrome 1	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199145270.	NM_001101.5(ACTB):c.753C>T (p.Gly251=) GRCh37: Chr7:5567961 GRCh38: Chr7:5528330	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 198431971.	NM_001101.5(ACTB):c.124-6T>G GRCh37: Chr7:5569037 GRCh38: Chr7:5529406	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 198144572.	NM_001101.5(ACTB):c.803-9C>G GRCh37: Chr7:5567825 GRCh38: Chr7:5528194	ACTB		Baraitser-Winter syndrome 1	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 196652873.	NM_001101.5(ACTB):c.327C>T (p.Pro109=) GRCh37: Chr7:5568828 GRCh38: Chr7:5529197	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 195380674.	NM_001101.5(ACTB):c.561C>T (p.Asp187=) GRCh37: Chr7:5568153 GRCh38: Chr7:5528522	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 195353175.	NM_001101.5(ACTB):c.471C>T (p.Asp157=) GRCh37: Chr7:5568243 GRCh38: Chr7:5528612	ACTB		Baraitser-Winter syndrome 1	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 195318276.	NM_001101.5(ACTB):c.124-10T>C GRCh37: Chr7:5569041 GRCh38: Chr7:5529410	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 194970677.	NM_001101.5(ACTB):c.511_522del (p.Leu171_Ala174del) GRCh37: Chr7:5568192-5568203 GRCh38: Chr7:5528561-5528572	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 193909078.	NM_001101.5(ACTB):c.1101C>G (p.Pro367=) GRCh37: Chr7:5567406 GRCh38: Chr7:5527775	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 193395879.	NM_001101.5(ACTB):c.123+3A>C GRCh37: Chr7:5569163 GRCh38: Chr7:5529532	ACTB		Baraitser-Winter syndrome 1	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 193244480.	NM_001101.5(ACTB):c.414T>C (p.Ala138=) GRCh37: Chr7:5568300 GRCh38: Chr7:5528669	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 191911881.	NM_001101.5(ACTB):c.1115G>A (p.Arg372His) GRCh37: Chr7:5567392 GRCh38: Chr7:5527761	ACTB	R372H	Baraitser-Winter syndrome 1	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 180582182.	NM_001101.5(ACTB):c.602C>T (p.Thr201Ile) GRCh37: Chr7:5568112 GRCh38: Chr7:5528481	ACTB	T201I	Baraitser-Winter syndrome 1	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 171830583.	NM_001101.5(ACTB):c.876C>A (p.Asp292Glu) GRCh37: Chr7:5567743 GRCh38: Chr7:5528112	ACTB	D292E	Baraitser-Winter syndrome 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 171084384.	NM_001101.5(ACTB):c.400G>A (p.Val134Ile) GRCh37: Chr7:5568314 GRCh38: Chr7:5528683	ACTB	V134I	Baraitser-Winter syndrome 1, not provided	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170013685.	NM_001101.5(ACTB):c.625G>T (p.Val209Leu) GRCh37: Chr7:5568089 GRCh38: Chr7:5528458	ACTB	V209L	Baraitser-Winter syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 169834786.	NM_001101.5(ACTB):c.721G>A (p.Glu241Lys) GRCh37: Chr7:5567993 GRCh38: Chr7:5528362	ACTB	E241K	not provided, Baraitser-Winter syndrome 1	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 169518387.	NM_001101.5(ACTB):c.364-4_364-3insAA GRCh37: Chr7:5568353-5568354 GRCh38: Chr7:5528722-5528723	ACTB		not provided, Baraitser-Winter syndrome 1	Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168550088.	NM_001101.5(ACTB):c.141G>A (p.Met47Ile) GRCh37: Chr7:5569014 GRCh38: Chr7:5529383	ACTB	M47I	Baraitser-Winter syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168457389.	NM_001101.5(ACTB):c.745A>T (p.Thr249Ser) GRCh37: Chr7:5567969 GRCh38: Chr7:5528338	ACTB	T249S	Baraitser-Winter syndrome 1	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 168452890.	NM_001101.5(ACTB):c.812C>T (p.Ser271Phe) GRCh37: Chr7:5567807 GRCh38: Chr7:5528176	ACTB	S271F	Baraitser-Winter syndrome 1	Uncertain significance (Oct 10, 2021)	criteria provided, single submitter
Select item 167983191.	NM_001101.5(ACTB):c.1063_1082del (p.Met355fs) GRCh37: Chr7:5567425-5567444 GRCh38: Chr7:5527794-5527813	ACTB	M355fs	Baraitser-Winter syndrome 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 167692392.	NM_001101.5(ACTB):c.548G>A (p.Arg183Gln) GRCh37: Chr7:5568166 GRCh38: Chr7:5528535	ACTB	R183Q	not provided, Baraitser-Winter syndrome 1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 166709093.	NM_001101.5(ACTB):c.624C>T (p.Ile208=) GRCh37: Chr7:5568090 GRCh38: Chr7:5528459	ACTB		Baraitser-Winter syndrome 1	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 165702394.	NM_001101.5(ACTB):c.783C>A (p.Leu261=) GRCh37: Chr7:5567931 GRCh38: Chr7:5528300	ACTB		Baraitser-Winter syndrome 1	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 165417895.	NM_001101.5(ACTB):c.124-14C>G GRCh37: Chr7:5569045 GRCh38: Chr7:5529414	ACTB		Baraitser-Winter syndrome 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 164124896.	NM_001101.5(ACTB):c.864C>T (p.Asp288=) GRCh37: Chr7:5567755 GRCh38: Chr7:5528124	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 163976097.	NM_001101.5(ACTB):c.654C>T (p.Tyr218=) GRCh37: Chr7:5568060 GRCh38: Chr7:5528429	ACTB		Baraitser-Winter syndrome 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 163928598.	NM_001101.5(ACTB):c.803-14C>T GRCh37: Chr7:5567830 GRCh38: Chr7:5528199	ACTB		Baraitser-Winter syndrome 1	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 163916399.	NM_001101.5(ACTB):c.123+18G>A GRCh37: Chr7:5569148 GRCh38: Chr7:5529517	ACTB		Baraitser-Winter syndrome 1	Likely benign (Feb 11, 2021)	criteria provided, single submitter
Select item 1636309100.	NM_001101.5(ACTB):c.985-10C>T GRCh37: Chr7:5567532 GRCh38: Chr7:5527901	ACTB		Baraitser-Winter syndrome 1	Likely benign (Jun 8, 2022)	criteria provided, single submitter

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