DAG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1232166	NM_001177643.2(DAG1):c.-332dup	DAG1	Duplication	not provided	GBenign
Select item 1269929	NM_001177643.2(DAG1):c.-320dup	DAG1	Duplication	not provided	GBenign
Select item 1227418	NM_001177643.2(DAG1):c.-306C>T	DAG1	Single nucleotide variant	not provided	GBenign
Select item 983418	NM_001177643.3(DAG1):c.-117+1G>T	DAG1	Single nucleotide variant (splice donor variant)	Intellectual disability	GUncertain significance
Select item 1237933	NM_001177643.3(DAG1):c.-117+1024T>G	LOC129936758, DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31763	NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del	DAG1, LOC129936758	Deletion	not provided	Gnot provided
Select item 380775	NM_004393.6(DAG1):c.-136G>A	DAG1, LOC129936758	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 382769	NM_004393.6(DAG1):c.-130C>T	DAG1, LOC129936758	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1189124	NM_004393.6(DAG1):c.-117+6669A>G	DAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179379	NM_004393.6(DAG1):c.-117+16912G>C	DAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1293349	NM_004393.6(DAG1):c.-117+17230A>G	DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223881	NM_004393.6(DAG1):c.-117+18092T>C	DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292613	NM_004393.6(DAG1):c.-117+18096G>T	DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252410	NM_004393.6(DAG1):c.-117+18178A>T	DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202821	NM_004393.6(DAG1):c.-117+18178del	DAG1	Deletion (intron variant)	not provided	GLikely benign
Select item 1251824	NM_004393.6(DAG1):c.-117+18434C>T	DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668114	NM_004393.6(DAG1):c.-116-291T>C	DAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31761	NM_004393.6(DAG1):c.-116-291T>G	DAG1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 420471	NM_004393.6(DAG1):c.-116-4dup	DAG1	Duplication (intron variant)	not provided	GBenign
Select item 508199	NM_004393.6(DAG1):c.-34C>T	DAG1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 668182	NM_004393.6(DAG1):c.-24G>T	DAG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2942755	NM_004393.6(DAG1):c.5G>A (p.Arg2Lys)	DAG1 (R2K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2114707	NM_004393.6(DAG1):c.5G>C (p.Arg2Thr)	DAG1 (R2T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2005444	NM_004393.6(DAG1):c.14T>G (p.Val5Gly)	DAG1 (V5G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1176024	NM_004393.6(DAG1):c.15G>A (p.Val5=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GConflicting classifications of pathogenicity
Select item 1149061	NM_004393.6(DAG1):c.21C>G (p.Leu7=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 582771	NM_004393.6(DAG1):c.23C>T (p.Ser8Leu)	DAG1 (S8L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 539136	NM_004393.6(DAG1):c.24G>A (p.Ser8=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2420332	NM_004393.6(DAG1):c.32T>C (p.Leu11Pro)	DAG1 (L11P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1576930	NM_004393.6(DAG1):c.39C>T (p.Leu13=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 1073860	NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)	DAG1 (S14*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GPathogenic
Select item 501482	NM_004393.6(DAG1):c.41del (p.Ser14fs)	DAG1 (S14fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 226558	NM_004393.6(DAG1):c.41C>G (p.Ser14Trp)	DAG1 (S14W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 31752	NM_004393.6(DAG1):c.41= (p.Ser14=)	DAG1 (W14S)	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign
Select item 970816	NM_004393.6(DAG1):c.42G>C (p.Ser14=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 1500239	NM_004393.6(DAG1):c.43G>T (p.Gly15Trp)	DAG1 (G15W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1115810	NM_004393.6(DAG1):c.45G>A (p.Gly15=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 1440158	NM_004393.6(DAG1):c.49A>G (p.Thr17Ala)	DAG1 (T17A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1417879	NM_004393.6(DAG1):c.55C>T (p.Leu19Phe)	DAG1 (L19F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 539138	NM_004393.6(DAG1):c.57C>T (p.Leu19=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2414613	NM_004393.6(DAG1):c.59T>A (p.Leu20His)	DAG1 (L20H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1579008	NM_004393.6(DAG1):c.63G>T (p.Leu21=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 3079997	NM_004393.6(DAG1):c.68C>G (p.Ser23Cys)	DAG1 (S23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1475256	NM_004393.6(DAG1):c.80C>G (p.Ala27Gly)	DAG1 (A27G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 3079998	NM_004393.6(DAG1):c.88C>G (p.His30Asp)	DAG1 (H30D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 290922	NM_004393.6(DAG1):c.93G>T (p.Trp31Cys)	DAG1 (W31C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2440686	NM_004393.6(DAG1):c.98G>C (p.Ser33Thr)	DAG1 (S33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966846	NM_004393.6(DAG1):c.98G>T (p.Ser33Ile)	DAG1 (S33I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1091408	NM_004393.6(DAG1):c.108A>C (p.Ser36=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 3233447	NM_004393.6(DAG1):c.112del (p.Ala38fs)	DAG1 (A38fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GLikely pathogenic
Select item 1043203	NM_004393.6(DAG1):c.123C>G (p.Asp41Glu)	DAG1 (D41E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 945866	NM_004393.6(DAG1):c.126G>C (p.Trp42Cys)	DAG1 (W42C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2537987	NM_004393.6(DAG1):c.133C>G (p.Gln45Glu)	DAG1 (Q45E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2928944	NM_004393.6(DAG1):c.147C>T (p.Ser49=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 284116	NM_004393.6(DAG1):c.148A>G (p.Met50Val)	DAG1 (M50V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 1497352	NM_004393.6(DAG1):c.153C>G (p.His51Gln)	DAG1 (H51Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 3079993	NM_004393.6(DAG1):c.154T>C (p.Ser52Pro)	DAG1 (S52P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1929305	NM_004393.6(DAG1):c.160C>G (p.Leu54Val)	DAG1 (L54V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2688912	NM_004393.6(DAG1):c.161T>C (p.Leu54Pro)	DAG1 (L54P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782225	NM_004393.6(DAG1):c.162C>G (p.Leu54=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 1385190	NM_004393.6(DAG1):c.173A>T (p.His58Leu)	DAG1 (H58L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1653873	NM_004393.6(DAG1):c.174C>T (p.His58=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 1431137	NM_004393.6(DAG1):c.175G>A (p.Glu59Lys)	DAG1 (E59K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 620516	NM_004393.6(DAG1):c.175G>T (p.Glu59Ter)	DAG1 (E59*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GConflicting classifications of pathogenicity
Select item 1391264	NM_004393.6(DAG1):c.181G>A (p.Val61Ile)	DAG1 (V61I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 195221	NM_004393.6(DAG1):c.183T>C (p.Val61=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 282776	NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)	DAG1 (P62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2440698	NM_004393.6(DAG1):c.188C>T (p.Thr63Ile)	DAG1 (T63I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 471770	NM_004393.6(DAG1):c.193G>A (p.Val65Ile)	DAG1 (V65I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 1060047	NM_004393.6(DAG1):c.210C>T (p.Gly70=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 576217	NM_004393.6(DAG1):c.212C>A (p.Thr71Lys)	DAG1 (T71K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 508690	NM_004393.6(DAG1):c.213G>A (p.Thr71=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GLikely benign
Select item 2937628	NM_004393.6(DAG1):c.216T>C (p.Ala72=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 500026	NM_004393.6(DAG1):c.219C>T (p.Val73=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +3 more	GConflicting classifications of pathogenicity
Select item 208540	NM_004393.6(DAG1):c.220G>A (p.Val74Ile)	DAG1 (V74I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2440692	NM_004393.6(DAG1):c.221T>C (p.Val74Ala)	DAG1 (V74A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595033	NM_004393.6(DAG1):c.222C>T (p.Val74=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2440697	NM_004393.6(DAG1):c.226C>T (p.Arg76Cys)	DAG1 (R76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851256	NM_004393.6(DAG1):c.227G>A (p.Arg76His)	DAG1 (R76H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 834479	NM_004393.6(DAG1):c.229T>C (p.Ser77Pro)	DAG1 (S77P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 654870	NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)	DAG1 (R79*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GPathogenic
Select item 2120155	NM_004393.6(DAG1):c.237A>G (p.Arg79=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 707071	NM_004393.6(DAG1):c.243C>G (p.Thr81=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 286716	NM_004393.6(DAG1):c.244A>G (p.Ile82Val)	DAG1 (I82V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3338231	NM_004393.6(DAG1):c.255_258delinsCC (p.Leu86fs)	DAG1 (L86fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GLikely pathogenic
Select item 195220	NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)	DAG1 (L86F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128884	NM_004393.6(DAG1):c.259A>G (p.Ile87Val)	DAG1 (I87V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +3 more	GBenign/Likely benign
Select item 758895	NM_004393.6(DAG1):c.261T>C (p.Ile87=)	DAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668507	NM_004393.6(DAG1):c.264C>T (p.Ala88=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 1309192	NM_004393.6(DAG1):c.268A>C (p.Ser90Arg)	DAG1 (S90R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 539129	NM_004393.6(DAG1):c.268A>G (p.Ser90Gly)	DAG1 (S90G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 1441329	NM_004393.6(DAG1):c.271G>A (p.Gly91Arg)	DAG1 (G91R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 1030790	NM_004393.6(DAG1):c.272G>A (p.Gly91Glu)	DAG1 (G91E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 281825	NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)	DAG1 (I93T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2440684	NM_004393.6(DAG1):c.285+1dup	DAG1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2440677	NM_004393.6(DAG1):c.284A>G (p.Lys95Arg)	DAG1 (K95R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842859	NM_004393.6(DAG1):c.285+1G>A	DAG1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GPathogenic

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