ClinVar for Gene (Select 1605) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246914	NC_000003.11:g.(?_49568210)_(49570632_?)del	DAG1	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GPathogenic
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	AMT, ARIH2 +23 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GPathogenic
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 3233446	NM_004393.6(DAG1):c.256_259delinsCC (p.Leu86fs)	DAG1 (L86fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GLikely pathogenic
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 3079997	NM_004393.6(DAG1):c.68C>G (p.Ser23Cys)	DAG1 (S23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079996	NM_004393.6(DAG1):c.313C>T (p.Pro105Ser)	DAG1 (P105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079995	NM_004393.6(DAG1):c.1922A>T (p.Asn641Ile)	DAG1 (N641I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079994	NM_004393.6(DAG1):c.1664A>G (p.Asn555Ser)	DAG1 (N555S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3079992	NM_004393.6(DAG1):c.1226G>A (p.Gly409Asp)	DAG1 (G409D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064933	NM_004393.6(DAG1):c.1915G>A (p.Asp639Asn)	DAG1 (D639N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GUncertain significance
Select item 3035202	NM_004393.6(DAG1):c.897C>T (p.Ile299=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder	GLikely benign
Select item 2953783	NM_004393.6(DAG1):c.1362G>A (p.Arg454=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2952049	NM_004393.6(DAG1):c.1545G>A (p.Glu515=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2951837	NM_004393.6(DAG1):c.2475C>T (p.Pro825=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2951836	NM_004393.6(DAG1):c.2031G>T (p.Leu677=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2950337	NM_004393.6(DAG1):c.1381C>A (p.Arg461=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2950336	NM_004393.6(DAG1):c.1345C>T (p.Pro449Ser)	DAG1 (P449S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2949772	NM_004393.6(DAG1):c.2010C>T (p.Pro670=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2946845	NM_004393.6(DAG1):c.1599G>A (p.Lys533=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2945507	NM_004393.6(DAG1):c.1083T>C (p.Pro361=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2944013	NM_004393.6(DAG1):c.1596C>T (p.Asp532=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2942755	NM_004393.6(DAG1):c.5G>A (p.Arg2Lys)	DAG1 (R2K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2941854	NM_004393.6(DAG1):c.969C>G (p.Ala323=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2940807	NM_004393.6(DAG1):c.1801G>C (p.Gly601Arg)	DAG1 (G601R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2940702	NM_004393.6(DAG1):c.852C>G (p.Gly284=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2940513	NM_004393.6(DAG1):c.462C>T (p.Ile154=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GLikely benign
Select item 2940208	NM_004393.6(DAG1):c.1097C>T (p.Pro366Leu)	DAG1 (P366L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2938125	NM_004393.6(DAG1):c.285+7C>T	DAG1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2938056	NM_004393.6(DAG1):c.1824C>T (p.Phe608=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 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 2937051	NM_004393.6(DAG1):c.1224T>C (p.Pro408=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2937015	NM_004393.6(DAG1):c.1908C>T (p.Ala636=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2935970	NM_004393.6(DAG1):c.777C>T (p.Ser259=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2935935	NM_004393.6(DAG1):c.2598A>G (p.Pro866=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2935799	NM_004393.6(DAG1):c.463G>A (p.Glu155Lys)	DAG1 (E155K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2933146	NM_004393.6(DAG1):c.2280C>T (p.Val760=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2932544	NM_004393.6(DAG1):c.810T>C (p.Ser270=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2931445	NM_004393.6(DAG1):c.294G>T (p.Ala98=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2930571	NM_004393.6(DAG1):c.534A>G (p.Val178=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2928944	NM_004393.6(DAG1):c.147C>T (p.Ser49=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2927767	NM_004393.6(DAG1):c.435C>T (p.Ile145=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2926453	NM_004393.6(DAG1):c.1329C>A (p.Thr443=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2922515	NM_004393.6(DAG1):c.993C>T (p.Ile331=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2688916	NM_004393.6(DAG1):c.2590C>T (p.Gln864Ter)	DAG1 (Q864*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2688915	NM_004393.6(DAG1):c.2560C>T (p.Arg854Trp)	DAG1 (R854W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688914	NM_004393.6(DAG1):c.2022C>G (p.Ile674Met)	DAG1 (I674M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688913	NM_004393.6(DAG1):c.1486C>T (p.Arg496Cys)	DAG1 (R496C)	Single nucleotide variant (missense variant)	not provided	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 2688911	NM_004393.6(DAG1):c.2319C>G (p.Ile773Met)	DAG1 (I773M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688910	NM_004393.6(DAG1):c.375T>A (p.Asp125Glu)	DAG1 (D125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688909	NM_004393.6(DAG1):c.1985A>G (p.Asn662Ser)	DAG1 (N662S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682832	NM_004393.6(DAG1):c.442A>C (p.Thr148Pro)	DAG1 (T148P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653828	NM_004393.6(DAG1):c.1149C>A (p.Gly383=)	DAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653827	NM_004393.6(DAG1):c.631C>T (p.Leu211=)	DAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613464	NM_004393.6(DAG1):c.2602C>T (p.Pro868Ser)	DAG1 (P868S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589593	NM_004393.6(DAG1):c.1958G>T (p.Gly653Val)	DAG1 (G653V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551780	NM_004393.6(DAG1):c.1204C>T (p.Arg402Cys)	DAG1 (R402C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539880	NM_004393.6(DAG1):c.2407G>A (p.Glu803Lys)	DAG1 (E803K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2524000	NM_004393.6(DAG1):c.2636G>T (p.Arg879Leu)	DAG1 (R879L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440705	NM_004393.6(DAG1):c.898G>A (p.Ala300Thr)	DAG1 (A300T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440704	NM_004393.6(DAG1):c.724A>G (p.Met242Val)	DAG1 (M242V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440703	NM_004393.6(DAG1):c.425G>A (p.Gly142Glu)	DAG1 (G142E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440701	NM_004393.6(DAG1):c.1462C>T (p.Pro488Ser)	DAG1 (P488S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440700	NM_004393.6(DAG1):c.1588A>G (p.Thr530Ala)	DAG1 (T530A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440699	NM_004393.6(DAG1):c.947C>G (p.Ala316Gly)	DAG1 (A316G)	Single nucleotide variant (missense variant)	not provided	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 2440697	NM_004393.6(DAG1):c.226C>T (p.Arg76Cys)	DAG1 (R76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440696	NM_004393.6(DAG1):c.2639C>A (p.Pro880His)	DAG1 (P880H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440695	NM_004393.6(DAG1):c.2506G>A (p.Val836Met)	DAG1 (V836M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440694	NM_004393.6(DAG1):c.2308A>G (p.Ile770Val)	DAG1 (I770V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440693	NM_004393.6(DAG1):c.836C>G (p.Ala279Gly)	DAG1 (A279G)	Single nucleotide variant (missense variant)	not provided	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 2440690	NM_004393.6(DAG1):c.1946A>G (p.Asn649Ser)	DAG1 (N649S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440689	NM_004393.6(DAG1):c.1808G>A (p.Arg603Lys)	DAG1 (R603K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440688	NM_004393.6(DAG1):c.1639G>T (p.Gly547Cys)	DAG1 (G547C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440687	NM_004393.6(DAG1):c.1720G>A (p.Glu574Lys)	DAG1 (E574K)	Single nucleotide variant (missense variant)	not provided	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 2440684	NM_004393.6(DAG1):c.285+1dup	DAG1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2440683	NM_004393.6(DAG1):c.1728C>A (p.Phe576Leu)	DAG1 (F576L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440682	NM_004393.6(DAG1):c.2486C>T (p.Pro829Leu)	DAG1 (P829L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440681	NM_004393.6(DAG1):c.2272G>A (p.Val758Met)	DAG1 (V758M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440680	NM_004393.6(DAG1):c.945T>G (p.His315Gln)	DAG1 (H315Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440679	NM_004393.6(DAG1):c.1985A>C (p.Asn662Thr)	DAG1 (N662T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440678	NM_004393.6(DAG1):c.2041A>T (p.Ile681Phe)	DAG1 (I681F)	Single nucleotide variant (missense 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 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 2419976	NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg)	DAG1 (P827R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2418757	NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter)	DAG1 (R640*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2418567	NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg)	DAG1 (K582R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2418360	NM_004393.6(DAG1):c.1817C>T (p.Ala606Val)	DAG1 (A606V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2417063	NM_004393.6(DAG1):c.971T>C (p.Ile324Thr)	DAG1 (I324T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2414613	NM_004393.6(DAG1):c.59T>A (p.Leu20His)	DAG1 (L20H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2414152	NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu)	DAG1 (R457L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2310313	NM_004393.6(DAG1):c.643C>G (p.Arg215Gly)	DAG1 (R215G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281826	NM_004393.6(DAG1):c.2164G>A (p.Val722Ile)	DAG1 (V722I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222881	NM_004393.6(DAG1):c.1126A>G (p.Ile376Val)	DAG1 (I376V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202267	NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr)	DAG1 (P724T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance

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