ClinVar for MedGen (Select 443952) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 570

<< First< Prev

Page of 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24258521.	NC_000001.10:g.(?_63836639)_(63902701_?)del GRCh37: Chr1:63836639-63902701	ALG6		ALG6-congenital disorder of glycosylation 1C	Pathogenic (Oct 27, 2021)	criteria provided, single submitter
Select item 24199932.	NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr) GRCh37: Chr1:63894778 GRCh38: Chr1:63429107	ALG6	S436Y	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 22025853.	NM_013339.4(ALG6):c.619G>A (p.Ala207Thr) GRCh37: Chr1:63876941 GRCh38: Chr1:63411270	ALG6	A207T	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 22025394.	NM_013339.4(ALG6):c.104T>C (p.Phe35Ser) GRCh37: Chr1:63862205 GRCh38: Chr1:63396534	ALG6	F35S	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 22011065.	NM_013339.4(ALG6):c.258-19T>C GRCh37: Chr1:63870105 GRCh38: Chr1:63404434	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 21946986.	NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile) GRCh37: Chr1:63894466 GRCh38: Chr1:63428795	ALG6	T374I	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 21930517.	NM_013339.4(ALG6):c.604A>G (p.Met202Val) GRCh37: Chr1:63876926 GRCh38: Chr1:63411255	ALG6	M202V	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 21901148.	NM_013339.4(ALG6):c.399T>A (p.Cys133Ter) GRCh37: Chr1:63872040 GRCh38: Chr1:63406369	ALG6	C133*	ALG6-congenital disorder of glycosylation 1C	Pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 21859509.	NM_013339.4(ALG6):c.988-14del GRCh37: Chr1:63885021 GRCh38: Chr1:63419350	ALG6		ALG6-congenital disorder of glycosylation 1C	Benign (Jun 8, 2022)	criteria provided, single submitter
Select item 218123310.	NM_013339.4(ALG6):c.553T>C (p.Cys185Arg) GRCh37: Chr1:63876875 GRCh38: Chr1:63411204	ALG6	C185R	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 217952411.	NM_013339.4(ALG6):c.419C>T (p.Thr140Ile) GRCh37: Chr1:63872060 GRCh38: Chr1:63406389	ALG6	T140I	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 217838812.	NM_013339.4(ALG6):c.288T>C (p.Ala96=) GRCh37: Chr1:63870154 GRCh38: Chr1:63404483	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 217727113.	NM_013339.4(ALG6):c.431T>C (p.Ile144Thr) GRCh37: Chr1:63872734 GRCh38: Chr1:63407063	ALG6	I144T	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 217660114.	NM_013339.4(ALG6):c.346+19G>A GRCh37: Chr1:63870231 GRCh38: Chr1:63404560	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 217431815.	NM_013339.4(ALG6):c.137A>G (p.Glu46Gly) GRCh37: Chr1:63862238 GRCh38: Chr1:63396567	ALG6	E46G	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 217396616.	NM_013339.4(ALG6):c.1031A>G (p.His344Arg) GRCh37: Chr1:63885084 GRCh38: Chr1:63419413	ALG6	H344R	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 216964817.	NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln) GRCh37: Chr1:63885086 GRCh38: Chr1:63419415	ALG6	E345Q	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 216924018.	NM_013339.4(ALG6):c.712G>A (p.Val238Ile) GRCh37: Chr1:63877628 GRCh38: Chr1:63411957	ALG6	V238I	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 216888819.	NM_013339.4(ALG6):c.778C>G (p.Leu260Val) GRCh37: Chr1:63877694 GRCh38: Chr1:63412023	ALG6	L260V	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 216808920.	NM_013339.4(ALG6):c.1134A>G (p.Leu378=) GRCh37: Chr1:63894605 GRCh38: Chr1:63428934	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 216793821.	NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser) GRCh37: Chr1:63894405 GRCh38: Chr1:63428734	ALG6	P354S	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 216774822.	NM_013339.4(ALG6):c.988-18C>T GRCh37: Chr1:63885023 GRCh38: Chr1:63419352	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 216754423.	NM_013339.4(ALG6):c.681-18C>G GRCh37: Chr1:63877579 GRCh38: Chr1:63411908	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 216737324.	NM_013339.4(ALG6):c.889C>T (p.Gln297Ter) GRCh37: Chr1:63879804 GRCh38: Chr1:63414133	ALG6	Q297*	ALG6-congenital disorder of glycosylation 1C	Pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 216588325.	NM_013339.4(ALG6):c.338G>T (p.Arg113Leu) GRCh37: Chr1:63870204 GRCh38: Chr1:63404533	ALG6	R113L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 216483126.	NM_013339.4(ALG6):c.680+11T>G GRCh37: Chr1:63877013 GRCh38: Chr1:63411342	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 216238527.	NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr) GRCh37: Chr1:63877623 GRCh38: Chr1:63411952	ALG6	C236Y	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 216093328.	NM_013339.4(ALG6):c.6G>T (p.Glu2Asp) GRCh37: Chr1:63836654 GRCh38: Chr1:63370983	ALG6	E2D	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 216077629.	NM_013339.4(ALG6):c.151T>A (p.Leu51Ile) GRCh37: Chr1:63862252 GRCh38: Chr1:63396581	ALG6	L51I	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 216061130.	NM_013339.4(ALG6):c.256G>A (p.Val86Met) GRCh37: Chr1:63868013 GRCh38: Chr1:63402342	ALG6	V86M	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 216015031.	NM_013339.4(ALG6):c.816+16T>C GRCh37: Chr1:63877748 GRCh38: Chr1:63412077	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 215895732.	NM_013339.4(ALG6):c.656T>C (p.Phe219Ser) GRCh37: Chr1:63876978 GRCh38: Chr1:63411307	ALG6	F219S	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 215747733.	NM_013339.4(ALG6):c.711TGT[1] (p.Val239del) GRCh37: Chr1:63877626-63877628 GRCh38: Chr1:63411955-63411957	ALG6	V239del	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 215700534.	NM_013339.4(ALG6):c.817-8C>G GRCh37: Chr1:63879724 GRCh38: Chr1:63414053	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 215479535.	NM_013339.4(ALG6):c.625C>T (p.Pro209Ser) GRCh37: Chr1:63876947 GRCh38: Chr1:63411276	ALG6	P209S	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 215470936.	NM_013339.4(ALG6):c.1327-15T>C GRCh37: Chr1:63902479 GRCh38: Chr1:63436808	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 215458637.	NM_013339.4(ALG6):c.681-17C>G GRCh37: Chr1:63877580 GRCh38: Chr1:63411909	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 215012538.	NM_013339.4(ALG6):c.1116G>T (p.Val372=) GRCh37: Chr1:63894461 GRCh38: Chr1:63428790	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 214921939.	NM_013339.4(ALG6):c.4G>A (p.Glu2Lys) GRCh37: Chr1:63836652 GRCh38: Chr1:63370981	ALG6	E2K	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 214893440.	NM_013339.4(ALG6):c.429+9T>C GRCh37: Chr1:63872079 GRCh38: Chr1:63406408	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 214838141.	NM_013339.4(ALG6):c.346+5A>G GRCh37: Chr1:63870217 GRCh38: Chr1:63404546	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 214651942.	NM_013339.4(ALG6):c.726C>G (p.Phe242Leu) GRCh37: Chr1:63877642 GRCh38: Chr1:63411971	ALG6	F242L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 214632543.	NM_013339.4(ALG6):c.257+17T>C GRCh37: Chr1:63868031 GRCh38: Chr1:63402360	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 214507944.	NM_013339.4(ALG6):c.692T>C (p.Leu231Pro) GRCh37: Chr1:63877608 GRCh38: Chr1:63411937	ALG6	L231P	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 214428645.	NM_013339.4(ALG6):c.1272T>A (p.Ser424=) GRCh37: Chr1:63894743 GRCh38: Chr1:63429072	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 214408746.	NM_013339.4(ALG6):c.100A>G (p.Met34Val) GRCh37: Chr1:63862201 GRCh38: Chr1:63396530	ALG6	M34V	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 214332347.	NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly) GRCh37: Chr1:63894762 GRCh38: Chr1:63429091	ALG6	C431G	ALG6-congenital disorder of glycosylation 1C, Inborn genetic diseases	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214195848.	NM_013339.4(ALG6):c.857T>G (p.Leu286Arg) GRCh37: Chr1:63879772 GRCh38: Chr1:63414101	ALG6	L286R	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214045149.	NM_013339.4(ALG6):c.301C>T (p.Arg101Cys) GRCh37: Chr1:63870167 GRCh38: Chr1:63404496	ALG6	R101C	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 213983450.	NM_013339.4(ALG6):c.19A>G (p.Met7Val) GRCh37: Chr1:63836667 GRCh38: Chr1:63370996	ALG6	M7V	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 213877351.	NM_013339.4(ALG6):c.794C>T (p.Pro265Leu) GRCh37: Chr1:63877710 GRCh38: Chr1:63412039	ALG6	P265L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 213277552.	NM_013339.4(ALG6):c.846C>G (p.Phe282Leu) GRCh37: Chr1:63879761 GRCh38: Chr1:63414090	ALG6	F282L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213205253.	NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu) GRCh37: Chr1:63902509 GRCh38: Chr1:63436838	ALG6	I448L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 213154454.	NM_013339.4(ALG6):c.178A>G (p.Ser60Gly) GRCh37: Chr1:63867935 GRCh38: Chr1:63402264	ALG6	S60G	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212900555.	NM_013339.4(ALG6):c.628T>G (p.Phe210Val) GRCh37: Chr1:63876950 GRCh38: Chr1:63411279	ALG6	F210V	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 212756356.	NM_013339.4(ALG6):c.495-6G>A GRCh37: Chr1:63876811 GRCh38: Chr1:63411140	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212410657.	NM_013339.4(ALG6):c.816+19C>T GRCh37: Chr1:63877751 GRCh38: Chr1:63412080	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212349258.	NM_013339.4(ALG6):c.816+8T>A GRCh37: Chr1:63877740 GRCh38: Chr1:63412069	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 212338859.	NM_013339.4(ALG6):c.742C>A (p.Pro248Thr) GRCh37: Chr1:63877658 GRCh38: Chr1:63411987	ALG6	P248T	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212328260.	NM_013339.4(ALG6):c.987G>A (p.Leu329=) GRCh37: Chr1:63881628 GRCh38: Chr1:63415957	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 211889961.	NM_013339.4(ALG6):c.680+4A>G GRCh37: Chr1:63877006 GRCh38: Chr1:63411335	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211872562.	NM_013339.4(ALG6):c.663dup (p.Gly222fs) GRCh37: Chr1:63876979-63876980 GRCh38: Chr1:63411308-63411309	ALG6	G222fs	ALG6-congenital disorder of glycosylation 1C	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 211851263.	NM_013339.4(ALG6):c.180C>G (p.Ser60Arg) GRCh37: Chr1:63867937 GRCh38: Chr1:63402266	ALG6	S60R	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211783664.	NM_013339.4(ALG6):c.346+8A>G GRCh37: Chr1:63870220 GRCh38: Chr1:63404549	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 211650365.	NM_013339.4(ALG6):c.681-16T>G GRCh37: Chr1:63877581 GRCh38: Chr1:63411910	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 211296266.	NM_013339.4(ALG6):c.1326+8C>T GRCh37: Chr1:63894805 GRCh38: Chr1:63429134	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 210728767.	NM_013339.4(ALG6):c.823G>A (p.Val275Ile) GRCh37: Chr1:63879738 GRCh38: Chr1:63414067	ALG6	V275I	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 210528368.	NM_013339.4(ALG6):c.429+2T>C GRCh37: Chr1:63872072 GRCh38: Chr1:63406401	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 210303169.	NM_013339.4(ALG6):c.816+12C>A GRCh37: Chr1:63877744 GRCh38: Chr1:63412073	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 210215770.	NM_013339.4(ALG6):c.171T>C (p.Tyr57=) GRCh37: Chr1:63867928 GRCh38: Chr1:63402257	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 210070271.	NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu) GRCh37: Chr1:63894663 GRCh38: Chr1:63428992	ALG6	F398L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209914072.	NM_013339.4(ALG6):c.999G>C (p.Ala333=) GRCh37: Chr1:63885052 GRCh38: Chr1:63419381	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 209771873.	NM_013339.4(ALG6):c.682T>C (p.Phe228Leu) GRCh37: Chr1:63877598 GRCh38: Chr1:63411927	ALG6	F228L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 209736474.	NM_013339.4(ALG6):c.430-10G>C GRCh37: Chr1:63872723 GRCh38: Chr1:63407052	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 209348675.	NM_013339.4(ALG6):c.1327-5T>G GRCh37: Chr1:63902489 GRCh38: Chr1:63436818	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 209323176.	NM_013339.4(ALG6):c.867G>A (p.Lys289=) GRCh37: Chr1:63879782 GRCh38: Chr1:63414111	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 209229477.	NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe) GRCh37: Chr1:63902625 GRCh38: Chr1:63436954	ALG6	L486F	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 208901678.	NM_013339.4(ALG6):c.1260C>A (p.Ser420=) GRCh37: Chr1:63894731 GRCh38: Chr1:63429060	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 208826079.	NM_013339.4(ALG6):c.681-6T>G GRCh37: Chr1:63877591 GRCh38: Chr1:63411920	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 208662480.	NM_013339.4(ALG6):c.236A>T (p.His79Leu) GRCh37: Chr1:63867993 GRCh38: Chr1:63402322	ALG6	H79L	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208608681.	NM_013339.4(ALG6):c.415T>C (p.Ser139Pro) GRCh37: Chr1:63872056 GRCh38: Chr1:63406385	ALG6	S139P	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208389882.	NM_013339.4(ALG6):c.258-3C>T GRCh37: Chr1:63870121 GRCh38: Chr1:63404450	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 208190083.	NM_013339.4(ALG6):c.282G>T (p.Trp94Cys) GRCh37: Chr1:63870148 GRCh38: Chr1:63404477	ALG6	W94C	Inborn genetic diseases, ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208110684.	NM_013339.4(ALG6):c.82+1G>A GRCh37: Chr1:63836731 GRCh38: Chr1:63371060	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 207957385.	NM_013339.4(ALG6):c.677A>T (p.Lys226Met) GRCh37: Chr1:63876999 GRCh38: Chr1:63411328	ALG6	K226M	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 207825686.	NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn) GRCh37: Chr1:63902663 GRCh38: Chr1:63436992	ALG6	S499N	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 207322187.	NM_013339.4(ALG6):c.780A>G (p.Leu260=) GRCh37: Chr1:63877696 GRCh38: Chr1:63412025	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 206479388.	NM_013339.4(ALG6):c.44T>A (p.Leu15Gln) GRCh37: Chr1:63836692 GRCh38: Chr1:63371021	ALG6	L15Q	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 206288089.	NM_013339.4(ALG6):c.83-8G>T GRCh37: Chr1:63862176 GRCh38: Chr1:63396505	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 206271290.	NM_013339.4(ALG6):c.495-10A>C GRCh37: Chr1:63876807 GRCh38: Chr1:63411136	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 205610191.	NM_013339.4(ALG6):c.816+11del GRCh37: Chr1:63877741 GRCh38: Chr1:63412070	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205057192.	NM_013339.4(ALG6):c.880C>T (p.Arg294Cys) GRCh37: Chr1:63879795 GRCh38: Chr1:63414124	ALG6	R294C	ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 204907893.	NM_013339.4(ALG6):c.1371T>C (p.Thr457=) GRCh37: Chr1:63902538 GRCh38: Chr1:63436867	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 204587794.	NM_013339.4(ALG6):c.510T>C (p.Ser170=) GRCh37: Chr1:63876832 GRCh38: Chr1:63411161	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204534295.	NM_013339.4(ALG6):c.100_101del (p.Met34fs) GRCh37: Chr1:63862200-63862201 GRCh38: Chr1:63396529-63396530	ALG6	M34fs	ALG6-congenital disorder of glycosylation 1C	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 204066396.	NM_013339.4(ALG6):c.680+10T>C GRCh37: Chr1:63877012 GRCh38: Chr1:63411341	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 204053597.	NM_013339.4(ALG6):c.919T>C (p.Leu307=) GRCh37: Chr1:63881560 GRCh38: Chr1:63415889	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 203870998.	NM_013339.4(ALG6):c.903-7T>C GRCh37: Chr1:63881537 GRCh38: Chr1:63415866	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 203163199.	NM_013339.4(ALG6):c.1005A>T (p.Ser335=) GRCh37: Chr1:63885058 GRCh38: Chr1:63419387	ALG6		ALG6-congenital disorder of glycosylation 1C	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 2029707100.	NM_013339.4(ALG6):c.843C>T (p.Ser281=) GRCh37: Chr1:63879758 GRCh38: Chr1:63414087	ALG6		ALG6-congenital disorder of glycosylation 1C	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter

<< First< Prev

Page of 6