ClinVar for MedGen (Select 339902) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25765591.	NM_005445.4(SMC3):c.707G>A (p.Arg236His) GRCh37: Chr10:112341840 GRCh38: Chr10:110582082	SMC3	R236H	Cornelia de Lange syndrome 3	Likely pathogenic (Jul 13, 2023)	criteria provided, single submitter
Select item 25724422.	NM_005445.4(SMC3):c.2018A>G (p.Lys673Arg) GRCh37: Chr10:112356210 GRCh38: Chr10:110596452	SMC3	K673R	Cornelia de Lange syndrome 3	Uncertain significance	criteria provided, single submitter
Select item 24423843.	NM_005445.4(SMC3):c.3625_3630dup (p.Val1210_Glu1211insPheVal) GRCh37: Chr10:112364030-112364031 GRCh38: Chr10:110604272-110604273	SMC3		Cornelia de Lange syndrome 3	Likely pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 24361464.	NM_005445.4(SMC3):c.1692T>A (p.Asp564Glu) GRCh37: Chr10:112350770 GRCh38: Chr10:110591012	SMC3	D564E	Cornelia de Lange syndrome 3	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 24361455.	NM_005445.4(SMC3):c.2569A>G (p.Thr857Ala) GRCh37: Chr10:112360813 GRCh38: Chr10:110601055	SMC3	T857A	Cornelia de Lange syndrome 3	Uncertain significance (Mar 13, 2021)	criteria provided, single submitter
Select item 24253546.	NC_000010.10:g.(?_111860412)_(112839579_?)dup GRCh37: Chr10:111860412-112839579	ADD3, ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1		Cornelia de Lange syndrome 3	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 24189887.	NM_005445.4(SMC3):c.1050A>G (p.Lys350=) GRCh37: Chr10:112343679 GRCh38: Chr10:110583921	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 21990378.	NM_005445.4(SMC3):c.3105+15G>A GRCh37: Chr10:112361951 GRCh38: Chr10:110602193	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 21918759.	NM_005445.4(SMC3):c.1119G>A (p.Thr373=) GRCh37: Chr10:112343968 GRCh38: Chr10:110584210	SMC3		Cornelia de Lange syndrome 3	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 219024610.	NM_005445.4(SMC3):c.384T>C (p.Ala128=) GRCh37: Chr10:112338419 GRCh38: Chr10:110578661	SMC3		Cornelia de Lange syndrome 3	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 218610911.	NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg) GRCh37: Chr10:112362389 GRCh38: Chr10:110602631	SMC3	P1088R	Cornelia de Lange syndrome 3	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 217667512.	NM_005445.4(SMC3):c.2893-17A>G GRCh37: Chr10:112361707 GRCh38: Chr10:110601949	SMC3		Cornelia de Lange syndrome 3	Benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217298013.	NM_005445.4(SMC3):c.3582+18T>C GRCh37: Chr10:112363066 GRCh38: Chr10:110603308	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 216882914.	NM_005445.4(SMC3):c.970-4A>G GRCh37: Chr10:112343595 GRCh38: Chr10:110583837	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216728415.	NM_005445.4(SMC3):c.1584T>C (p.Val528=) GRCh37: Chr10:112350244 GRCh38: Chr10:110590486	SMC3		Cornelia de Lange syndrome 3	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 215764316.	NM_005445.4(SMC3):c.2645-17G>T GRCh37: Chr10:112361378 GRCh38: Chr10:110601620	SMC3		Cornelia de Lange syndrome 3	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 215152417.	NM_005445.4(SMC3):c.1812+16A>T GRCh37: Chr10:112350906 GRCh38: Chr10:110591148	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 214567318.	NM_005445.4(SMC3):c.804+14C>T GRCh37: Chr10:112342414 GRCh38: Chr10:110582656	SMC3		Cornelia de Lange syndrome 3	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 214474619.	NM_005445.4(SMC3):c.3600G>T (p.Val1200=) GRCh37: Chr10:112364006 GRCh38: Chr10:110604248	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214454920.	NM_005445.4(SMC3):c.1407A>G (p.Arg469=) GRCh37: Chr10:112349464 GRCh38: Chr10:110589706	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 214411221.	NM_005445.4(SMC3):c.723+20C>T GRCh37: Chr10:112341876 GRCh38: Chr10:110582118	SMC3		Cornelia de Lange syndrome 3	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 214261522.	NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys) GRCh37: Chr10:112361457 GRCh38: Chr10:110601699	SMC3	R903C	Inborn genetic diseases, Cornelia de Lange syndrome 3	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 214031723.	NM_005445.4(SMC3):c.351-4A>G GRCh37: Chr10:112338382 GRCh38: Chr10:110578624	SMC3		Cornelia de Lange syndrome 3	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 213992624.	NM_005445.4(SMC3):c.2670A>G (p.Thr890=) GRCh37: Chr10:112361420 GRCh38: Chr10:110601662	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 212299625.	NM_005445.4(SMC3):c.538A>C (p.Lys180Gln) GRCh37: Chr10:112340770 GRCh38: Chr10:110581012	SMC3	K180Q	Cornelia de Lange syndrome 3	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211809226.	NM_005445.4(SMC3):c.2802G>A (p.Lys934=) GRCh37: Chr10:112361552 GRCh38: Chr10:110601794	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 211735327.	NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg) GRCh37: Chr10:112360802 GRCh38: Chr10:110601044	SMC3	T853R	Cornelia de Lange syndrome 3	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211418528.	NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly) GRCh37: Chr10:112361401 GRCh38: Chr10:110601643	SMC3	D884G	Cornelia de Lange syndrome 3	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 210743529.	NM_005445.4(SMC3):c.1091+17C>T GRCh37: Chr10:112343737 GRCh38: Chr10:110583979	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 209007130.	NM_005445.4(SMC3):c.309T>C (p.Gly103=) GRCh37: Chr10:112337631 GRCh38: Chr10:110577873	SMC3		Cornelia de Lange syndrome 3	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 208908431.	NM_005445.4(SMC3):c.15+12G>A GRCh37: Chr10:112327601 GRCh38: Chr10:110567843	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 208546132.	NM_005445.4(SMC3):c.15+11C>T GRCh37: Chr10:112327600 GRCh38: Chr10:110567842	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 208098533.	NM_005445.4(SMC3):c.33T>C (p.Phe11=) GRCh37: Chr10:112328713 GRCh38: Chr10:110568955	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 207919234.	NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg) GRCh37: Chr10:112344078 GRCh38: Chr10:110584320	SMC3	K410R	Cornelia de Lange syndrome 3	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207555235.	NM_005445.4(SMC3):c.969+17A>G GRCh37: Chr10:112343323 GRCh38: Chr10:110583565	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 207555136.	NM_005445.4(SMC3):c.350+21dup GRCh37: Chr10:112337685-112337686 GRCh38: Chr10:110577927-110577928	SMC3		Cornelia de Lange syndrome 3	Benign (Sep 15, 2022)	criteria provided, single submitter
Select item 207123137.	NM_005445.4(SMC3):c.430-18T>A GRCh37: Chr10:112340644 GRCh38: Chr10:110580886	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 207077038.	NM_005445.4(SMC3):c.3106-8_3106-4del GRCh37: Chr10:112362220-112362224 GRCh38: Chr10:110602462-110602466	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 206167839.	NM_005445.4(SMC3):c.1670+6del GRCh37: Chr10:112350334 GRCh38: Chr10:110590576	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 206131740.	NM_005445.4(SMC3):c.3476-18A>G GRCh37: Chr10:112362924 GRCh38: Chr10:110603166	SMC3		Cornelia de Lange syndrome 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 205362841.	NM_005445.4(SMC3):c.1091+19A>G GRCh37: Chr10:112343739 GRCh38: Chr10:110583981	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 205077242.	NM_005445.4(SMC3):c.624A>C (p.Glu208Asp) GRCh37: Chr10:112341757 GRCh38: Chr10:110581999	SMC3	E208D	Cornelia de Lange syndrome 3	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 204996143.	NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly) GRCh37: Chr10:112343666 GRCh38: Chr10:110583908	SMC3	E346G	Cornelia de Lange syndrome 3	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 204963344.	NM_005445.4(SMC3):c.2982C>G (p.Ser994=) GRCh37: Chr10:112361813 GRCh38: Chr10:110602055	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 204085145.	NM_005445.4(SMC3):c.1670+20A>G GRCh37: Chr10:112350350 GRCh38: Chr10:110590592	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 203959546.	NM_005445.4(SMC3):c.1409+8T>C GRCh37: Chr10:112349474 GRCh38: Chr10:110589716	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 203917847.	NM_005445.4(SMC3):c.1964-15_1964-14del GRCh37: Chr10:112356139-112356140 GRCh38: Chr10:110596381-110596382	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 203635448.	NM_005445.4(SMC3):c.199-15T>G GRCh37: Chr10:112337164 GRCh38: Chr10:110577406	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 203601449.	NM_005445.4(SMC3):c.1813-19G>A GRCh37: Chr10:112352812 GRCh38: Chr10:110593054	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 202979550.	NM_005445.4(SMC3):c.909T>G (p.Thr303=) GRCh37: Chr10:112343246 GRCh38: Chr10:110583488	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202861751.	NM_005445.4(SMC3):c.363G>A (p.Val121=) GRCh37: Chr10:112338398 GRCh38: Chr10:110578640	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 201836752.	NM_005445.4(SMC3):c.2688G>A (p.Glu896=) GRCh37: Chr10:112361438 GRCh38: Chr10:110601680	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 201701753.	NM_005445.4(SMC3):c.2943T>C (p.His981=) GRCh37: Chr10:112361774 GRCh38: Chr10:110602016	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201532354.	NM_005445.4(SMC3):c.2273G>A (p.Arg758His) GRCh37: Chr10:112359416 GRCh38: Chr10:110599658	SMC3	R758H	Cornelia de Lange syndrome 3	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 200847055.	NM_005445.4(SMC3):c.2117-15C>T GRCh37: Chr10:112357882 GRCh38: Chr10:110598124	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 199764056.	NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser) GRCh37: Chr10:112343976 GRCh38: Chr10:110584218	SMC3	Y376S	Cornelia de Lange syndrome 3	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 199685957.	NM_005445.4(SMC3):c.1803T>C (p.Pro601=) GRCh37: Chr10:112350881 GRCh38: Chr10:110591123	SMC3		Cornelia de Lange syndrome 3	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 198366158.	NM_005445.4(SMC3):c.1644A>G (p.Thr548=) GRCh37: Chr10:112350304 GRCh38: Chr10:110590546	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 198255159.	NM_005445.4(SMC3):c.1032G>C (p.Leu344=) GRCh37: Chr10:112343661 GRCh38: Chr10:110583903	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 197571360.	NM_005445.4(SMC3):c.430-19A>T GRCh37: Chr10:112340643 GRCh38: Chr10:110580885	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 196661961.	NM_005445.4(SMC3):c.2645-13C>T GRCh37: Chr10:112361382 GRCh38: Chr10:110601624	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 195119362.	NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu) GRCh37: Chr10:112361489 GRCh38: Chr10:110601731	SMC3	D913E	Cornelia de Lange syndrome 3	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 195108363.	NM_005445.4(SMC3):c.2535+11G>T GRCh37: Chr10:112360315 GRCh38: Chr10:110600557	SMC3		Cornelia de Lange syndrome 3	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 193727264.	NM_005445.4(SMC3):c.577T>C (p.Leu193=) GRCh37: Chr10:112341710 GRCh38: Chr10:110581952	SMC3		Cornelia de Lange syndrome 3	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 193523565.	NM_005445.4(SMC3):c.913T>G (p.Leu305Val) GRCh37: Chr10:112343250 GRCh38: Chr10:110583492	SMC3	L305V	Cornelia de Lange syndrome 3	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 191162966.	NM_005445.4(SMC3):c.3298-17_3298-13del GRCh37: Chr10:112362564-112362568 GRCh38: Chr10:110602806-110602810	SMC3		Cornelia de Lange syndrome 3	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 190950567.	NM_005445.4(SMC3):c.2893-15A>G GRCh37: Chr10:112361709 GRCh38: Chr10:110601951	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 190934068.	NM_005445.4(SMC3):c.271-6T>G GRCh37: Chr10:112337587 GRCh38: Chr10:110577829	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 190875069.	NM_005445.4(SMC3):c.270+17_270+18del GRCh37: Chr10:112337260-112337261 GRCh38: Chr10:110577502-110577503	SMC3		Cornelia de Lange syndrome 3	Benign (May 9, 2022)	criteria provided, single submitter
Select item 189705470.	NM_005445.4(SMC3):c.1963+16T>C GRCh37: Chr10:112352997 GRCh38: Chr10:110593239	SMC3		Cornelia de Lange syndrome 3	Benign (Aug 30, 2022)	criteria provided, single submitter
Select item 189539471.	NM_005445.4(SMC3):c.2399T>C (p.Leu800Pro) GRCh37: Chr10:112359542 GRCh38: Chr10:110599784	SMC3	L800P	Cornelia de Lange syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 180609672.	NM_005445.4(SMC3):c.2653A>C (p.Asn885His) GRCh37: Chr10:112361403 GRCh38: Chr10:110601645	SMC3	N885H	Cornelia de Lange syndrome 3	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 175655873.	NM_005445.4(SMC3):c.69C>T (p.Phe23=) GRCh37: Chr10:112328749 GRCh38: Chr10:110568991	SMC3		Inborn genetic diseases, Cornelia de Lange syndrome 3	Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173226874.	NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala) GRCh37: Chr10:112362986 GRCh38: Chr10:110603228	SMC3	T1174A	Inborn genetic diseases, Cornelia de Lange syndrome 3	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172114375.	NM_005445.4(SMC3):c.386G>T (p.Gly129Val) GRCh37: Chr10:112338421 GRCh38: Chr10:110578663	SMC3	G129V	Cornelia de Lange syndrome 3	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 172004476.	NM_005445.4(SMC3):c.786T>A (p.Asp262Glu) GRCh37: Chr10:112342382 GRCh38: Chr10:110582624	SMC3	D262E	Cornelia de Lange syndrome 3	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 169649177.	NM_005445.4(SMC3):c.1580A>G (p.His527Arg) GRCh37: Chr10:112350240 GRCh38: Chr10:110590482	SMC3	H527R	Cornelia de Lange syndrome 3	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 168622078.	NM_005445.4(SMC3):c.2044G>A (p.Val682Ile) GRCh37: Chr10:112356236 GRCh38: Chr10:110596478	SMC3	V682I	Cornelia de Lange syndrome 3	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167970679.	NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) GRCh37: Chr10:112361533 GRCh38: Chr10:110601775	SMC3	R928Q	Cornelia de Lange syndrome 3	Uncertain significance (Jun 10, 2021)	criteria provided, single submitter
Select item 167656780.	NM_005445.4(SMC3):c.1343dup (p.Glu449fs)	SMC3	E449fs	Cornelia de Lange syndrome 3	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 167468881.	NM_005445.4(SMC3):c.3582+19_3582+24del GRCh37: Chr10:112363065-112363070 GRCh38: Chr10:110603307-110603312	SMC3		Cornelia de Lange syndrome 3	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 164498882.	NM_005445.4(SMC3):c.969+16A>G GRCh37: Chr10:112343322 GRCh38: Chr10:110583564	SMC3		Cornelia de Lange syndrome 3	Likely benign (Apr 2, 2021)	criteria provided, single submitter
Select item 163028683.	NM_005445.4(SMC3):c.372C>T (p.Leu124=) GRCh37: Chr10:112338407 GRCh38: Chr10:110578649	SMC3		Cornelia de Lange syndrome 3	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 162073684.	NM_005445.4(SMC3):c.2535+18T>G GRCh37: Chr10:112360322 GRCh38: Chr10:110600564	SMC3		Cornelia de Lange syndrome 3	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 161864085.	NM_005445.4(SMC3):c.1410-20G>A GRCh37: Chr10:112349630 GRCh38: Chr10:110589872	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 160151986.	NM_005445.4(SMC3):c.3298-3dup GRCh37: Chr10:112362575-112362576 GRCh38: Chr10:110602817-110602818	SMC3		Cornelia de Lange syndrome 3	Benign (Aug 30, 2022)	criteria provided, single submitter
Select item 154004087.	NM_005445.4(SMC3):c.2658C>T (p.Ser886=) GRCh37: Chr10:112361408 GRCh38: Chr10:110601650	SMC3		Cornelia de Lange syndrome 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 151953388.	NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro) GRCh37: Chr10:112356291 GRCh38: Chr10:110596533	SMC3	L700P	Cornelia de Lange syndrome 3	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 146149489.	NM_005445.4(SMC3):c.3106-18A>G GRCh37: Chr10:112362214 GRCh38: Chr10:110602456	SMC3		Cornelia de Lange syndrome 3	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 139474690.	NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) GRCh37: Chr10:112357993 GRCh38: Chr10:110598235	SMC3	E738A	Cornelia de Lange syndrome 3	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 135933091.	NM_005445.4(SMC3):c.2427+6T>C GRCh37: Chr10:112359576 GRCh38: Chr10:110599818	SMC3		Cornelia de Lange syndrome 3	Uncertain significance (Apr 3, 2021)	criteria provided, single submitter
Select item 134917492.	NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys) GRCh37: Chr10:112350877 GRCh38: Chr10:110591119	SMC3	Y600C	Cornelia de Lange syndrome 3	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 133609893.	NM_005445.4(SMC3):c.621G>A (p.Lys207=) GRCh37: Chr10:112341754 GRCh38: Chr10:110581996	SMC3		not specified, Cornelia de Lange syndrome 3, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 29, 2022)	criteria provided, conflicting interpretations
Select item 133051894.	NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) GRCh37: Chr10:112356216 GRCh38: Chr10:110596458	SMC3	R675Q	Cornelia de Lange syndrome 3	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132023595.	NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr) GRCh37: Chr10:112360282 GRCh38: Chr10:110600524	SMC3	K838T	Cornelia de Lange syndrome 3	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 131992496.	NM_005445.4(SMC3):c.3442G>T (p.Ala1148Ser) GRCh37: Chr10:112362727 GRCh38: Chr10:110602969	SMC3	A1148S	Cornelia de Lange syndrome 3	Likely pathogenic (Sep 14, 2021)	no assertion criteria provided
Select item 130427197.	NM_005445.4(SMC3):c.1417T>G (p.Trp473Gly) GRCh37: Chr10:112349657 GRCh38: Chr10:110589899	SMC3	W473G	not provided, Cornelia de Lange syndrome 3	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations
Select item 127579598.	NM_005445.4(SMC3):c.2464G>T (p.Glu822Ter) GRCh37: Chr10:112360233 GRCh38: Chr10:110600475	SMC3	E822*	Cornelia de Lange syndrome 3	Uncertain significance (Jul 21, 2023)	criteria provided, single submitter
Select item 106757399.	NM_005445.4(SMC3):c.1901G>A (p.Arg634His) GRCh37: Chr10:112352919 GRCh38: Chr10:110593161	SMC3	R634H	Cornelia de Lange syndrome 3	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 1028889100.	NM_005445.4(SMC3):c.130+11C>G GRCh37: Chr10:112333514 GRCh38: Chr10:110573756	SMC3		Cornelia de Lange syndrome 3	Uncertain significance (Dec 9, 2019)	criteria provided, single submitter

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