"Revvity Omics, Revvity"[submitter] AND "DAG1"[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 582771	NM_004393.6(DAG1):c.23C>T (p.Ser8Leu)	DAG1 (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 284116	NM_004393.6(DAG1):c.148A>G (p.Met50Val)	DAG1 (M50V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 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 282776	NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)	DAG1 (P62L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +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 576217	NM_004393.6(DAG1):c.212C>A (p.Thr71Lys)	DAG1 (T71K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 208540	NM_004393.6(DAG1):c.220G>A (p.Val74Ile)	DAG1 (V74I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +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 2440697	NM_004393.6(DAG1):c.226C>T (p.Arg76Cys)	DAG1 (R76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281825	NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)	DAG1 (I93T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +3 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 2688910	NM_004393.6(DAG1):c.375T>A (p.Asp125Glu)	DAG1 (D125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285446	NM_004393.6(DAG1):c.403G>T (p.Ala135Ser)	DAG1 (A135S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 539128	NM_004393.6(DAG1):c.424G>A (p.Gly142Arg)	DAG1 (G142R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	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 1335524	NM_004393.6(DAG1):c.440A>G (p.Gln147Arg)	DAG1 (Q147R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596416	NM_004393.6(DAG1):c.532G>T (p.Val178Leu)	DAG1 (V178L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804734	NM_004393.6(DAG1):c.535T>A (p.Ser179Thr)	DAG1 (S179T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1805724	NM_004393.6(DAG1):c.568G>C (p.Val190Leu)	DAG1 (V190L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497562	NM_004393.6(DAG1):c.623T>C (p.Ile208Thr)	DAG1 (I208T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +3 more	GUncertain significance
Select item 282130	NM_004393.6(DAG1):c.634C>A (p.His212Asn)	DAG1 (H212N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 840679	NM_004393.6(DAG1):c.643C>T (p.Arg215Trp)	DAG1 (R215W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1011197	NM_004393.6(DAG1):c.644G>A (p.Arg215Gln)	DAG1 (R215Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 1053926	NM_004393.6(DAG1):c.659T>C (p.Val220Ala)	DAG1 (V220A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 284520	NM_004393.6(DAG1):c.695A>G (p.Asn232Ser)	DAG1 (N232S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	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 943130	NM_004393.6(DAG1):c.835G>T (p.Ala279Ser)	DAG1 (A279S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +3 more	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 2440705	NM_004393.6(DAG1):c.898G>A (p.Ala300Thr)	DAG1 (A300T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858009	NM_004393.6(DAG1):c.920C>G (p.Pro307Arg)	DAG1 (P307R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 374069	NM_004393.6(DAG1):c.932G>A (p.Arg311Gln)	DAG1 (R311Q)	Single nucleotide variant (missense variant)	not provided +3 more	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 2440699	NM_004393.6(DAG1):c.947C>G (p.Ala316Gly)	DAG1 (A316G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196383	NM_004393.6(DAG1):c.965C>T (p.Thr322Ile)	DAG1 (T322I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 283316	NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)	DAG1 (T341I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 283029	NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu)	DAG1 (P349L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 501731	NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala)	DAG1 (T369A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 861785	NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp)	DAG1 (R371W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 595933	NM_004393.6(DAG1):c.1205G>A (p.Arg402His)	DAG1 (R402H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 282307	NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu)	DAG1 (R402L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +3 more	GUncertain significance
Select item 593206	NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser)	DAG1 (T414S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 285462	NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu)	DAG1 (P427L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 429305	NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln)	DAG1 (R428Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 291208	NM_004393.6(DAG1):c.1307C>T (p.Thr436Met)	DAG1 (T436M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 2056749	NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)	DAG1 (T444I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 196381	NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp)	DAG1 (R454W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 286606	NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln)	DAG1 (R457Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 2044484	NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)	DAG1 (R461W)	Single nucleotide variant (missense variant)	not provided +2 more	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 1517315	NM_004393.6(DAG1):c.1466G>A (p.Arg489His)	DAG1 (R489H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	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 1897818	NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr)	DAG1 (I503T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 471769	NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile)	DAG1 (T512I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 581955	NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys)	DAG1 (E515K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	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 596375	NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln)	DAG1 (R541Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	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 431866	NM_004393.6(DAG1):c.1708G>A (p.Val570Met)	DAG1 (V570M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1356937	NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr)	DAG1 (K572T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	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 2440683	NM_004393.6(DAG1):c.1728C>A (p.Phe576Leu)	DAG1 (F576L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418909	NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro)	DAG1 (S586P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 539131	NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu)	DAG1 (S586L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 290274	NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys)	DAG1 (E592K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 597468	NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys)	DAG1 (R598C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1353288	NM_004393.6(DAG1):c.1793G>A (p.Arg598His)	DAG1 (R598H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 502400	NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg)	DAG1 (Q600R)	Single nucleotide variant (missense variant)	not provided +2 more	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 539132	NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg)	DAG1 (K609R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GUncertain significance
Select item 650337	NM_004393.6(DAG1):c.1829C>T (p.Ala610Val)	DAG1 (A610V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	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 285302	NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp)	DAG1 (R652W)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of alpha-dystroglycan +3 more	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 2440679	NM_004393.6(DAG1):c.1985A>C (p.Asn662Thr)	DAG1 (N662T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208542	NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)	DAG1 (C669F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GConflicting classifications of pathogenicity
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 1483294	NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg)	DAG1 (G676R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290088	NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln)	DAG1 (R680Q)	Single nucleotide variant (missense variant)	not provided +2 more	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 597686	NM_004393.6(DAG1):c.2123C>T (p.Thr708Met)	DAG1 (T708M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 471772	NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln)	DAG1 (R714Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	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 2440694	NM_004393.6(DAG1):c.2308A>G (p.Ile770Val)	DAG1 (I770V)	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 286222	NM_004393.6(DAG1):c.2416G>A (p.Asp806Asn)	DAG1 (D806N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434895	NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser)	DAG1 (P811S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +3 more	GUncertain significance
Select item 1398586	NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr)	DAG1 (P828T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	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 2440695	NM_004393.6(DAG1):c.2506G>A (p.Val836Met)	DAG1 (V836M)	Single nucleotide variant (missense variant)	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 2688916	NM_004393.6(DAG1):c.2590C>T (p.Gln864Ter)	DAG1 (Q864*)	Single nucleotide variant (nonsense)	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 596255	NM_004393.6(DAG1):c.2647A>G (p.Met883Val)	DAG1 (M883V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 95