ClinVar for MedGen (Select 1386785) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362376	NM_004393.6(DAG1):c.41C>T (p.Ser14Leu)	DAG1 (S14L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GLikely pathogenic
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 3246914	NC_000003.11:g.(?_49568210)_(49570632_?)del	DAG1	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GPathogenic
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +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 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 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)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2951837	NM_004393.6(DAG1):c.2475C>T (p.Pro825=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2951836	NM_004393.6(DAG1):c.2031G>T (p.Leu677=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2945507	NM_004393.6(DAG1):c.1083T>C (p.Pro361=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2944013	NM_004393.6(DAG1):c.1596C>T (p.Asp532=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	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 2941854	NM_004393.6(DAG1):c.969C>G (p.Ala323=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +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 +1 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)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2938056	NM_004393.6(DAG1):c.1824C>T (p.Phe608=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2930571	NM_004393.6(DAG1):c.534A>G (p.Val178=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
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 2927767	NM_004393.6(DAG1):c.435C>T (p.Ile145=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2926453	NM_004393.6(DAG1):c.1329C>A (p.Thr443=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2922515	NM_004393.6(DAG1):c.993C>T (p.Ile331=)	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 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)	Autosomal recessive limb-girdle muscular dystrophy type 2P +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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
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 2414152	NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu)	DAG1 (R457L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	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
Select item 2196700	NM_004393.6(DAG1):c.2439C>T (p.Ser813=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2194490	NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe)	DAG1 (S336F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 2187901	NM_004393.6(DAG1):c.2161G>A (p.Val721Met)	DAG1 (V721M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2182726	NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg)	DAG1 (S485R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2182541	NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser)	DAG1 (N694S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2180573	NM_004393.6(DAG1):c.716C>T (p.Ser239Leu)	DAG1 (S239L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2180571	NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser)	DAG1 (P741S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2178188	NM_004393.6(DAG1):c.2295C>T (p.Leu765=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2175389	NM_004393.6(DAG1):c.2612C>T (p.Ala871Val)	DAG1 (A871V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2170692	NM_004393.6(DAG1):c.1618C>G (p.Leu540Val)	DAG1 (L540V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2169220	NM_004393.6(DAG1):c.1681A>G (p.Met561Val)	DAG1 (M561V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2165539	NM_004393.6(DAG1):c.1389C>T (p.Thr463=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2163722	NM_004393.6(DAG1):c.2679C>T (p.Val893=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2163268	NM_004393.6(DAG1):c.2181G>T (p.Val727=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2162447	NM_004393.6(DAG1):c.2433C>T (p.Pro811=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2155101	NM_004393.6(DAG1):c.1783G>A (p.Val595Ile)	DAG1 (V595I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2153265	NM_004393.6(DAG1):c.2155A>G (p.Ile719Val)	DAG1 (I719V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2149705	NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe)	DAG1 (S807F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2147571	NM_004393.6(DAG1):c.984C>A (p.Thr328=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2146563	NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe)	DAG1 (L564F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2144591	NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln)	DAG1 (P810Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2144447	NM_004393.6(DAG1):c.1326C>T (p.Thr442=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2143855	NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala)	DAG1 (P363A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2143684	NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp)	DAG1 (R389W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2139571	NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala)	DAG1 (T482A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2139296	NM_004393.6(DAG1):c.1334C>T (p.Thr445Met)	DAG1 (T445M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2128703	NM_004393.6(DAG1):c.942C>T (p.Ile314=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2123832	NM_004393.6(DAG1):c.2206G>A (p.Val736Met)	DAG1 (V736M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
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 2119075	NM_004393.6(DAG1):c.889T>A (p.Trp297Arg)	DAG1 (W297R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2115158	NM_004393.6(DAG1):c.845G>T (p.Arg282Met)	DAG1 (R282M)	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 2114401	NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr)	DAG1 (K632T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2113949	NM_004393.6(DAG1):c.1569C>T (p.Phe523=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2102438	NM_004393.6(DAG1):c.1402A>G (p.Ile468Val)	DAG1 (I468V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2089568	NM_004393.6(DAG1):c.1317T>C (p.Thr439=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2088465	NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp)	DAG1 (N661D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2085104	NM_004393.6(DAG1):c.1185C>T (p.Thr395=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2080318	NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile)	DAG1 (T343I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2076681	NM_004393.6(DAG1):c.286-1_287del	DAG1	Deletion (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GUncertain significance
Select item 2075129	NM_004393.6(DAG1):c.1032T>A (p.Ser344=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2067646	NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg)	DAG1 (Q673R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2065511	NM_004393.6(DAG1):c.843C>T (p.Ala281=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2062285	NM_004393.6(DAG1):c.2268G>A (p.Pro756=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2061527	NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile)	DAG1 (T734I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2056749	NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)	DAG1 (T444I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2056178	NM_004393.6(DAG1):c.1815T>C (p.Pro605=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +1 more	GLikely benign
Select item 2048190	NM_004393.6(DAG1):c.286-4del	DAG1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2044484	NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)	DAG1 (R461W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 2038012	NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser)	DAG1 (A628S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2037303	NM_004393.6(DAG1):c.966T>G (p.Thr322=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GLikely benign
Select item 2031827	NM_004393.6(DAG1):c.2207T>G (p.Val736Gly)	DAG1 (V736G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +1 more	GUncertain significance
Select item 2031656	NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser)	DAG1 (P724S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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