ClinVar for MedGen (Select 1386785) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24203321.	NM_004393.6(DAG1):c.32T>C (p.Leu11Pro) GRCh37: Chr3:49547999 GRCh38: Chr3:49510566	DAG1	L11P	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 24199762.	NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg) GRCh37: Chr3:49570424 GRCh38: Chr3:49532991	DAG1	P827R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 24187573.	NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter) GRCh37: Chr3:49569862 GRCh38: Chr3:49532429	DAG1	R640*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 24185674.	NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg) GRCh37: Chr3:49569689 GRCh38: Chr3:49532256	DAG1	K582R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 24183605.	NM_004393.6(DAG1):c.1817C>T (p.Ala606Val) GRCh37: Chr3:49569761 GRCh38: Chr3:49532328	DAG1	A606V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 24170636.	NM_004393.6(DAG1):c.971T>C (p.Ile324Thr) GRCh37: Chr3:49568915 GRCh38: Chr3:49531482	DAG1	I324T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 24146137.	NM_004393.6(DAG1):c.59T>A (p.Leu20His) GRCh37: Chr3:49548026 GRCh38: Chr3:49510593	DAG1	L20H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 24141528.	NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu) GRCh37: Chr3:49569314 GRCh38: Chr3:49531881	DAG1	R457L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 22022679.	NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr) GRCh37: Chr3:49570114 GRCh38: Chr3:49532681	DAG1	P724T	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 219670010.	NM_004393.6(DAG1):c.2439C>T (p.Ser813=) GRCh37: Chr3:49570383 GRCh38: Chr3:49532950	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 219449011.	NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe) GRCh37: Chr3:49568951 GRCh38: Chr3:49531518	DAG1	S336F	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 218790112.	NM_004393.6(DAG1):c.2161G>A (p.Val721Met) GRCh37: Chr3:49570105 GRCh38: Chr3:49532672	DAG1	V721M	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218272613.	NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg) GRCh37: Chr3:49569399 GRCh38: Chr3:49531966	DAG1	S485R	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 218254114.	NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser) GRCh37: Chr3:49570025 GRCh38: Chr3:49532592	DAG1	N694S	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 218057315.	NM_004393.6(DAG1):c.716C>T (p.Ser239Leu) GRCh37: Chr3:49568660 GRCh38: Chr3:49531227	DAG1	S239L	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 218057116.	NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser) GRCh37: Chr3:49570165 GRCh38: Chr3:49532732	DAG1	P741S	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 217818817.	NM_004393.6(DAG1):c.2295C>T (p.Leu765=) GRCh37: Chr3:49570239 GRCh38: Chr3:49532806	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 217538918.	NM_004393.6(DAG1):c.2612C>T (p.Ala871Val) GRCh37: Chr3:49570556 GRCh38: Chr3:49533123	DAG1	A871V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 217069219.	NM_004393.6(DAG1):c.1618C>G (p.Leu540Val) GRCh37: Chr3:49569562 GRCh38: Chr3:49532129	DAG1	L540V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 216922020.	NM_004393.6(DAG1):c.1681A>G (p.Met561Val) GRCh37: Chr3:49569625 GRCh38: Chr3:49532192	DAG1	M561V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 216553921.	NM_004393.6(DAG1):c.1389C>T (p.Thr463=) GRCh37: Chr3:49569333 GRCh38: Chr3:49531900	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216372222.	NM_004393.6(DAG1):c.2679C>T (p.Val893=) GRCh37: Chr3:49570623 GRCh38: Chr3:49533190	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 216326823.	NM_004393.6(DAG1):c.2181G>T (p.Val727=) GRCh37: Chr3:49570125 GRCh38: Chr3:49532692	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 216244724.	NM_004393.6(DAG1):c.2433C>T (p.Pro811=) GRCh37: Chr3:49570377 GRCh38: Chr3:49532944	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 215510125.	NM_004393.6(DAG1):c.1783G>A (p.Val595Ile) GRCh37: Chr3:49569727 GRCh38: Chr3:49532294	DAG1	V595I	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 215326526.	NM_004393.6(DAG1):c.2155A>G (p.Ile719Val) GRCh37: Chr3:49570099 GRCh38: Chr3:49532666	DAG1	I719V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 214970527.	NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe) GRCh37: Chr3:49570364 GRCh38: Chr3:49532931	DAG1	S807F	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 214757128.	NM_004393.6(DAG1):c.984C>A (p.Thr328=) GRCh37: Chr3:49568928 GRCh38: Chr3:49531495	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 214656329.	NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe) GRCh37: Chr3:49569634 GRCh38: Chr3:49532201	DAG1	L564F	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214459130.	NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln) GRCh37: Chr3:49570373 GRCh38: Chr3:49532940	DAG1	P810Q	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 214444731.	NM_004393.6(DAG1):c.1326C>T (p.Thr442=) GRCh37: Chr3:49569270 GRCh38: Chr3:49531837	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214385532.	NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala) GRCh37: Chr3:49569031 GRCh38: Chr3:49531598	DAG1	P363A	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214368433.	NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp) GRCh37: Chr3:49569109 GRCh38: Chr3:49531676	DAG1	R389W	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 213957134.	NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala) GRCh37: Chr3:49569388 GRCh38: Chr3:49531955	DAG1	T482A	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 213929635.	NM_004393.6(DAG1):c.1334C>T (p.Thr445Met) GRCh37: Chr3:49569278 GRCh38: Chr3:49531845	DAG1	T445M	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 212870336.	NM_004393.6(DAG1):c.942C>T (p.Ile314=) GRCh37: Chr3:49568886 GRCh38: Chr3:49531453	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 212383237.	NM_004393.6(DAG1):c.2206G>A (p.Val736Met) GRCh37: Chr3:49570150 GRCh38: Chr3:49532717	DAG1	V736M	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 212015538.	NM_004393.6(DAG1):c.237A>G (p.Arg79=) GRCh37: Chr3:49548204 GRCh38: Chr3:49510771	DAG1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 211907539.	NM_004393.6(DAG1):c.889T>A (p.Trp297Arg) GRCh37: Chr3:49568833 GRCh38: Chr3:49531400	DAG1	W297R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211515840.	NM_004393.6(DAG1):c.845G>T (p.Arg282Met) GRCh37: Chr3:49568789 GRCh38: Chr3:49531356	DAG1	R282M	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211470741.	NM_004393.6(DAG1):c.5G>C (p.Arg2Thr) GRCh37: Chr3:49547972 GRCh38: Chr3:49510539	DAG1	R2T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211440142.	NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr) GRCh37: Chr3:49569839 GRCh38: Chr3:49532406	DAG1	K632T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 211394943.	NM_004393.6(DAG1):c.1569C>T (p.Phe523=) GRCh37: Chr3:49569513 GRCh38: Chr3:49532080	DAG1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 210243844.	NM_004393.6(DAG1):c.1402A>G (p.Ile468Val) GRCh37: Chr3:49569346 GRCh38: Chr3:49531913	DAG1	I468V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 208956845.	NM_004393.6(DAG1):c.1317T>C (p.Thr439=) GRCh37: Chr3:49569261 GRCh38: Chr3:49531828	DAG1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 208846546.	NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp) GRCh37: Chr3:49569925 GRCh38: Chr3:49532492	DAG1	N661D	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 208510447.	NM_004393.6(DAG1):c.1185C>T (p.Thr395=) GRCh37: Chr3:49569129 GRCh38: Chr3:49531696	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 208031848.	NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile) GRCh37: Chr3:49568972 GRCh38: Chr3:49531539	DAG1	T343I	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207668149.	NM_004393.6(DAG1):c.286-1_287del GRCh37: Chr3:49568229-49568231 GRCh38: Chr3:49530796-49530798	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 207512950.	NM_004393.6(DAG1):c.1032T>A (p.Ser344=) GRCh37: Chr3:49568976 GRCh38: Chr3:49531543	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 206764651.	NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg) GRCh37: Chr3:49569962 GRCh38: Chr3:49532529	DAG1	Q673R	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 206551152.	NM_004393.6(DAG1):c.843C>T (p.Ala281=) GRCh37: Chr3:49568787 GRCh38: Chr3:49531354	DAG1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 206228553.	NM_004393.6(DAG1):c.2268G>A (p.Pro756=) GRCh37: Chr3:49570212 GRCh38: Chr3:49532779	DAG1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 206152754.	NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile) GRCh37: Chr3:49570145 GRCh38: Chr3:49532712	DAG1	T734I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 205674955.	NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile) GRCh37: Chr3:49569275 GRCh38: Chr3:49531842	DAG1	T444I	not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205617856.	NM_004393.6(DAG1):c.1815T>C (p.Pro605=) GRCh37: Chr3:49569759 GRCh38: Chr3:49532326	DAG1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 204819057.	NM_004393.6(DAG1):c.286-4del GRCh37: Chr3:49568226 GRCh38: Chr3:49530793	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 204448458.	NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp) GRCh37: Chr3:49569325 GRCh38: Chr3:49531892	DAG1	R461W	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203801259.	NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser) GRCh37: Chr3:49569826 GRCh38: Chr3:49532393	DAG1	A628S	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 203730360.	NM_004393.6(DAG1):c.966T>G (p.Thr322=) GRCh37: Chr3:49568910 GRCh38: Chr3:49531477	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 203182761.	NM_004393.6(DAG1):c.2207T>G (p.Val736Gly) GRCh37: Chr3:49570151 GRCh38: Chr3:49532718	DAG1	V736G	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 203165662.	NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser) GRCh37: Chr3:49570114 GRCh38: Chr3:49532681	DAG1	P724S	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 201947563.	NM_004393.6(DAG1):c.1479C>T (p.Pro493=) GRCh37: Chr3:49569423 GRCh38: Chr3:49531990	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 201872964.	NM_004393.6(DAG1):c.2124_2127del (p.Gly709fs) GRCh37: Chr3:49570067-49570070 GRCh38: Chr3:49532634-49532637	DAG1	G709fs	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 201797765.	NM_004393.6(DAG1):c.479_482dup (p.His161fs) GRCh37: Chr3:49568422-49568423 GRCh38: Chr3:49530989-49530990	DAG1	H161fs	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 201488966.	NM_004393.6(DAG1):c.1410A>T (p.Arg470Ser) GRCh37: Chr3:49569354 GRCh38: Chr3:49531921	DAG1	R470S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 201010767.	NM_004393.6(DAG1):c.914C>T (p.Pro305Leu) GRCh37: Chr3:49568858 GRCh38: Chr3:49531425	DAG1	P305L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200544468.	NM_004393.6(DAG1):c.14T>G (p.Val5Gly) GRCh37: Chr3:49547981 GRCh38: Chr3:49510548	DAG1	V5G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200303869.	NM_004393.6(DAG1):c.1423_1424insTT (p.Ser475fs) GRCh37: Chr3:49569366-49569367 GRCh38: Chr3:49531933-49531934	DAG1	S475fs	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 200165370.	NM_004393.6(DAG1):c.2072C>T (p.Ala691Val) GRCh37: Chr3:49570016 GRCh38: Chr3:49532583	DAG1	A691V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199341071.	NM_004393.6(DAG1):c.1874A>G (p.Lys625Arg) GRCh37: Chr3:49569818 GRCh38: Chr3:49532385	DAG1	K625R	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 199222972.	NM_004393.6(DAG1):c.1226G>T (p.Gly409Val) GRCh37: Chr3:49569170 GRCh38: Chr3:49531737	DAG1	G409V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 199055373.	NM_004393.6(DAG1):c.1833G>A (p.Lys611=) GRCh37: Chr3:49569777 GRCh38: Chr3:49532344	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 198847874.	NM_004393.6(DAG1):c.686C>T (p.Pro229Leu) GRCh37: Chr3:49568630 GRCh38: Chr3:49531197	DAG1	P229L	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 197861675.	NM_004393.6(DAG1):c.827G>T (p.Gly276Val) GRCh37: Chr3:49568771 GRCh38: Chr3:49531338	DAG1	G276V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 196684676.	NM_004393.6(DAG1):c.98G>T (p.Ser33Ile) GRCh37: Chr3:49548065 GRCh38: Chr3:49510632	DAG1	S33I	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 195939577.	NM_004393.6(DAG1):c.1329C>T (p.Thr443=) GRCh37: Chr3:49569273 GRCh38: Chr3:49531840	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 195927978.	NM_004393.6(DAG1):c.1842T>A (p.Gly614=) GRCh37: Chr3:49569786 GRCh38: Chr3:49532353	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 195636079.	NM_004393.6(DAG1):c.1673G>T (p.Ser558Ile) GRCh37: Chr3:49569617 GRCh38: Chr3:49532184	DAG1	S558I	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 195545380.	NM_004393.6(DAG1):c.524G>T (p.Gly175Val) GRCh37: Chr3:49568468 GRCh38: Chr3:49531035	DAG1	G175V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 195447781.	NM_004393.6(DAG1):c.2205A>C (p.Glu735Asp) GRCh37: Chr3:49570149 GRCh38: Chr3:49532716	DAG1	E735D	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 195300982.	NM_004393.6(DAG1):c.1040T>C (p.Ile347Thr) GRCh37: Chr3:49568984 GRCh38: Chr3:49531551	DAG1	I347T	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 195178883.	NM_004393.6(DAG1):c.2478A>G (p.Leu826=) GRCh37: Chr3:49570422 GRCh38: Chr3:49532989	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 194426784.	NM_004393.6(DAG1):c.462C>G (p.Ile154Met) GRCh37: Chr3:49568406 GRCh38: Chr3:49530973	DAG1	I154M	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 194339385.	NM_004393.6(DAG1):c.944A>G (p.His315Arg) GRCh37: Chr3:49568888 GRCh38: Chr3:49531455	DAG1	H315R	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 194171786.	NM_004393.6(DAG1):c.2200A>G (p.Thr734Ala) GRCh37: Chr3:49570144 GRCh38: Chr3:49532711	DAG1	T734A	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 193465387.	NM_004393.6(DAG1):c.1837G>T (p.Val613Leu) GRCh37: Chr3:49569781 GRCh38: Chr3:49532348	DAG1	V613L	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 192952088.	NM_004393.6(DAG1):c.1999G>A (p.Glu667Lys) GRCh37: Chr3:49569943 GRCh38: Chr3:49532510	DAG1	E667K	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 192930589.	NM_004393.6(DAG1):c.160C>G (p.Leu54Val) GRCh37: Chr3:49548127 GRCh38: Chr3:49510694	DAG1	L54V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 192908290.	NM_004393.6(DAG1):c.1639G>C (p.Gly547Arg) GRCh37: Chr3:49569583 GRCh38: Chr3:49532150	DAG1	G547R	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 192564591.	NM_004393.6(DAG1):c.1610C>T (p.Thr537Ile) GRCh37: Chr3:49569554 GRCh38: Chr3:49532121	DAG1	T537I	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 192255292.	NM_004393.6(DAG1):c.843C>G (p.Ala281=) GRCh37: Chr3:49568787 GRCh38: Chr3:49531354	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 190570593.	NM_004393.6(DAG1):c.1677G>A (p.Gln559=) GRCh37: Chr3:49569621 GRCh38: Chr3:49532188	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 190396394.	NM_004393.6(DAG1):c.1211C>T (p.Thr404Met) GRCh37: Chr3:49569155 GRCh38: Chr3:49531722	DAG1	T404M	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 190395495.	NM_004393.6(DAG1):c.420C>T (p.Ala140=) GRCh37: Chr3:49568364 GRCh38: Chr3:49530931	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 190257196.	NM_004393.6(DAG1):c.1392C>G (p.Thr464=) GRCh37: Chr3:49569336 GRCh38: Chr3:49531903	DAG1		Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 190197397.	NM_004393.6(DAG1):c.1324A>T (p.Thr442Ser) GRCh37: Chr3:49569268 GRCh38: Chr3:49531835	DAG1	T442S	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 189836298.	NM_004393.6(DAG1):c.2503A>T (p.Ser835Cys) GRCh37: Chr3:49570447 GRCh38: Chr3:49533014	DAG1	S835C	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 189781899.	NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr) GRCh37: Chr3:49569452 GRCh38: Chr3:49532019	DAG1	I503T	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, not provided	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1806871100.	NM_004393.6(DAG1):c.1729A>G (p.Met577Val) GRCh37: Chr3:49569673 GRCh38: Chr3:49532240	DAG1	M577V	Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, not provided	Uncertain significance (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts

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